ENSG00000166813


Homo sapiens

Features
Gene ID: ENSG00000166813
  
Biological name :KIF7
  
Synonyms : KIF7 / kinesin family member 7 / Q2M1P5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 15
Strand: -1
Band: q26.1
Gene start: 89608789
Gene end: 89655451
  
Corresponding Affymetrix probe sets: 229405_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000377934
Ensembl peptide - ENSP00000395906
NCBI entrez gene - 374654     See in Manteia.
OMIM - 611254
RefSeq - XM_011521531
RefSeq - NM_198525
RefSeq Peptide - NP_940927
swissprot - Q2M1P5
swissprot - F8WD21
Ensembl - ENSG00000166813
  
Related genetic diseases (OMIM): 200990 - Acrocallosal syndrome, 200990
  607131 - ?Al-Gazali-Bakalinova syndrome, 607131
  614120 - ?Hydrolethalus syndrome 2, 614120
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 kif7ENSDARG00000033099Danio rerio
 KIF7ENSGALG00000006611Gallus gallus
 Kif7ENSMUSG00000050382Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KIF27 / Q86VH2 / kinesin family member 27ENSG0000016511543
KIF21B / O75037 / kinesin family member 21BENSG0000011685224
KIF21A / Q7Z4S6 / kinesin family member 21AENSG0000013911623
KIF4A / O95239 / kinesin family member 4AENSG0000009088922
KIF4B / Q2VIQ3 / kinesin family member 4BENSG0000022665021
CENPE / Q02224 / centromere protein EENSG0000013877821
KIF17 / Q9P2E2 / kinesin family member 17ENSG0000011724519
KIF15 / Q9NS87 / kinesin family member 15ENSG0000016380818
KIF5A / Q12840 / kinesin family member 5AENSG0000015598018
KIF5C / O60282 / kinesin family member 5CENSG0000016828018
KIF11 / P52732 / kinesin family member 11ENSG0000013816017
KIF5B / P33176 / kinesin family member 5BENSG0000017075917
KIF3C / O14782 / kinesin family member 3CENSG0000008473116
KIF3B / O15066 / kinesin family member 3BENSG0000010135015
KIF3A / Q9Y496 / kinesin family member 3AENSG0000013143715


Protein motifs (from Interpro)
Interpro ID Name
 IPR001752  Kinesin motor domain
 IPR019821  Kinesin motor domain, conserved site
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR027640  Kinesin-like protein
 IPR036961  Kinesin motor domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007018 microtubule-based movement IEA
 biological_processGO:0045879 negative regulation of smoothened signaling pathway ISS
 biological_processGO:0045880 positive regulation of smoothened signaling pathway ISS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005871 kinesin complex IBA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0036064 ciliary basal body ISS
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0097542 ciliary tip TAS
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003774 motor activity IEA
 molecular_functionGO:0003777 microtubule motor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008017 microtubule binding IEA
 molecular_functionGO:0008574 ATP-dependent microtubule motor activity, plus-end-directed IBA


Pathways (from Reactome)
Pathway description
Hedgehog off state
Hedgehog on state


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000023 Inguinal hernia 
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 HP:0000028 Cryptorchidism "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators]
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 HP:0000047 Hypospadias "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators]
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 HP:0000054 Micropenis 
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 HP:0000098 Increased body height 
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 HP:0000104 Renal agenesis 
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 HP:0000143 Rectovaginal fistula "The presence of a fistula between the rectum and the vagina." [HPO:curators]
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 HP:0000175 Cleft palate "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators]
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 HP:0000176 Submucous cleft palate "A cleft palate that is covered by the mucous membrane of the roof of the mouth, which can make the cleft more difficult to observe upon physical examination. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue. Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate. It may be possible to detect a submucous cleft palate upon palpation as a notch in the bony palate." [HPO:curators, pmid:19779505]
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 HP:0000180 Lobulated tongue 
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 HP:0000190 Frenular abnormality "An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth." [HPO:probinson]
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 HP:0000193 Bifid uvula "A split or cleft uvula." [HPO:curators]
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 HP:0000194 Open mouth 
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 HP:0000199 Tongue nodules 
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 HP:0000204 Cleft lip "A gap in the `upper lip` (FMA:59817). This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development." [HPO:probinson]
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 HP:0000207 Triangular mouth 
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 HP:0000218 High palate "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428]
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 HP:0000233 Thin vermillion border 
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 HP:0000238 Hydrocephalus 
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 HP:0000256 Macrocephaly "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson]
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 HP:0000260 Wide anterior fontanel "Enlargement of the anterior fontanelle with respect to age-dependent norms." [HPO:curators]
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 HP:0000269 Prominent occiput 
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 HP:0000272 Malar hypoplasia "Underdeveloped midface region." [HPO:curators]
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 HP:0000276 Long face 
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 HP:0000278 Retrognathia 
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 HP:0000286 Epicanthus "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators]
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 HP:0000308 Microretrognathia 
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 HP:0000316 Hypertelorism 
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 HP:0000319 Flat philtrum 
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 HP:0000322 Short philtrum 
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 HP:0000337 Broad forehead "Abnormally large side-to-side distance of the forehead." [HPO:curators]
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 HP:0000340 Sloping forehead "A form of the forehead that slopes from top to bottom in an anterior direction." [HPO:curators]
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 HP:0000343 Long philtrum 
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 HP:0000347 Mandibular hypoplasia "Underdevelopment of the mandible." [HPO:curators]
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 HP:0000358 Posteriorly rotated ears "A type of `abnormal location of the ears` (HP:0000357) in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)." [HPO:probinson]
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 HP:0000365 Hearing loss 
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 HP:0000368 Low-set, posteriorly rotated ears 
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 HP:0000369 Low-set ears "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators]
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 HP:0000377 Abnormal form of ears "Abnormal form of the out part of the ear (also referred to as the auricle or pinna)." [HPO:curators]
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 HP:0000384 Preauricular skin tag "A rudimentary tag of ear tissue often containing a core of cartilage and located just in front of the auricle (outer part of the ear)." [HPO:curators]
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 HP:0000405 Hearing loss, conductive 
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0000426 Prominent nasal bridge 
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 HP:0000431 Broad nasal bridge "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators]
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 HP:0000455 Broad nasal tip 
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 HP:0000470 Short neck 
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 HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
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 HP:0000490 Deep set eyes 
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 HP:0000494 Downward slanting palpebral fissures 
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 HP:0000528 Anophthalmia "Absence of a true eyeball." [HPO:curators]
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 HP:0000565 Esotropia 
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 HP:0000568 Microphthalmos "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators]
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 HP:0000589 Coloboma "A developmental defect characterized by a cleft of some portion of the `eye` (FMA:54448`) or ocular adnexa." [HPO:probinson]
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 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
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 HP:0000648 Optic atrophy 
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 HP:0000685 Hypoplastic teeth 
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 HP:0000767 Pectus excavatum "A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance." [HPO:curators]
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 HP:0000768 Pectus carinatum "A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum." [HPO:curators]
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 HP:0000776 Diaphragmatic hernia "Diaphragmatic hernia is the result of a developmental defect causing an abnormal opening in the diaphragm, through which abdominal organs (stomach, spleen, liver, and intestines) can protrude into the thoracic cavity. This usually causes respiratory distress in the newborn period." [HPO:curators]
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 HP:0000889 Abnormality of the clavicles "Any abnormality of the clavicles (collar bones)." [HPO:curators]
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 HP:0001004 Lymphedema 
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 HP:0001156 Brachydactyly 
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 HP:0001159 Syndactyly "Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators]
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 HP:0001161 Polydactyly (hands) 
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 HP:0001162 Postaxial polydactyly (hands) "Supernumerary digits located at the ulnar side of the hand." [HPO:curators]
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 HP:0001177 Preaxial polydactyly (hands) "Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits." [HPO:curators]
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 HP:0001182 Tapered fingers 
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 HP:0001199 Triphalangeal thumb "In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin. The thumb normally consists of the first metacarpal and a proximal and distal phalanx. All other digits have an additional middle phalanx. This term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb." [HPO:curators]
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 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001251 Ataxia "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001274 Agenesis of corpus callosum "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators]
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 HP:0001288 Gait disturbance "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001305 Dandy-Walker malformation "A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman s terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the body s ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal." [HPO:curators]
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 HP:0001320 Cerebellar vermis hypoplasia 
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 HP:0001331 Absent septum pellucidum "Absence of the septum pellucidum." [HPO:curators]
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 HP:0001337 Tremor "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators]
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 HP:0001373 Joint dislocation "Displacement or malalignment of joints." [HPO:curators]
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 HP:0001425 Heterogeneous 
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 HP:0001508 Failure to thrive 
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 HP:0001510 Growth retardation 
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 HP:0001513 Obesity "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765]
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 HP:0001537 Umbilical hernia "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:curators]
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 HP:0001561 Polyhydramnios 
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 HP:0001601 Laryngomalacia 
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 HP:0001622 Premature birth 
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 HP:0001627 Cardiac abnormality "An abnormality of the `heart` (FMA:7088)." [HPO:probinson]
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 HP:0001641 Abnormality of the pulmonary valve "An abnormality of the `pulmonary valve` (FMA:7246)." [HPO:probinson]
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 HP:0001671 Abnormality of the cardiac septa 
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 HP:0001770 Toe syndactyly "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators]
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 HP:0001829 Polydactyly (feet) 
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 HP:0001830 Postaxial polydactyly (feet) "Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit." [HPO:curators]
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 HP:0001841 Preaxial polydactyly (feet) "This term applies for a wide variety of partial and/or complete duplications of the phalanges of the big toe (sometimes including the 1st metatarsal). A partial duplication can present itself on x-rays as a notched phalanx, bifid phalanx or a broadened phalanx. Polydactyly affecting the big toe is called preaxial or hallucal polydactyly of the feet." [HPO:curators]
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 HP:0001999 Facial dysmorphism 
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 HP:0002007 Frontal bossing "The presence of an unusually prominent forehead." [HPO:curators]
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 HP:0002023 Anal atresia "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators]
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 HP:0002104 Apnea "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event." [HPO:curators]
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 HP:0002119 Ventriculomegaly 
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 HP:0002139 Arrhinencephaly 
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 HP:0002269 Neuronal migration disorder 
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 HP:0002323 Anencephaly 
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 HP:0002419 Molar tooth sign on MRI 
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 HP:0002444 Hypothalamic hamartoma "Hypothalamic hamartoma is a malformation, not a tumor. Hypothalamic hamartomas grow at the rate of, or slower than, the surrounding brain tissue. A hamartoma of the hypothalamus appears as a non-enhancing mass in the floor of the third ventricle posterior to the optic chiasm that is isointense to grey matter on T1 and T2 pulse sequences of an MRI, but may have distinct intensity on FLAIR (neither cranial CT examination nor cranial ultrasound examination is adequate for diagnosis of hypothalamic hamartom). Individuals with hypothalamic hamartomas may have neurologic symptoms, although most are asymptomatic. Removal of the hypothalamic hamartoma is not indicated and often results in iatrogenic pituitary insufficiency." [HPO:curators]
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 HP:0002553 Arched eyebrows 
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 HP:0002654 Multiple epiphyseal dysplasia 
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 HP:0002758 Osteoarthritis 
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 HP:0002857 Genu valgum 
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 HP:0002876 Tachypnea, episodic 
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 HP:0002983 Micromelia 
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 HP:0003196 Nasal hypoplasia "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson]
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 HP:0003812 Phenotypic variability 
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 HP:0004209 Clinodactyly of the 5th finger "Clinodactyly refers to a bending or curvature of the `fifth finger` (FMA:24949) in the radial direction (i.e., towards the 4th finger)." [HPO:curators]
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0004408 Abnormality of the sense of smell 
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 HP:0004422 Biparietal narrowing "A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull)." [HPO:curators]
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 HP:0005930 Abnormality of the epiphyses 
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 HP:0006101 Finger syndactyly "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators]
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 HP:0006145 Central Y-shaped metacarpal "A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal." [HPO:curators]
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 HP:0007036 Hypoplasia of olfactory tract 
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 HP:0007360 Aplasia/Hypoplasia of the cerebellum 
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 HP:0007370 Aplasia/Hypoplasia of the corpus callosum "Absence or underdevelopment of the corpus callosum." [HPO:curators]
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 HP:0007894 Hypopigmentation of the fundus 
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 HP:0008689 Bilateral cryptorchidism 
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 HP:0008872 Feeding problems in infancy 
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 HP:0008897 Growth retardation, progressive 
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 HP:0009084 Midline notch of upper alveolar ridge 
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 HP:0009611 bifid distal phalanx of the thumb "Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones." [HPO:curators]
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 HP:0009942 Partial/complete duplication of phalanges of the thumb "Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:sdoelken]
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 HP:0010066 Partial/complete duplication of the phalanges of the hallux 
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 HP:0010576 Cystic malformations affecting the central nervous system 
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 HP:0010864 Mental retardation, severe "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [HPO:probinson]
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 HP:0011027 Abnormality of the fallopian tube "An abnormality of the `fallopian tube` (FMA:18245)." [HPO:probinson]
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 HP:0011220 Prominent forehead "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [pmid:19125436]
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 HP:0011802 Hamartoma of tongue 
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 HP:0012444 Brain atrophy "Partial or complete wasting (loss) of brain tissue that was once present." [HPO:probinson]
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 HP:0030084 Clinodactyly "An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe)." [pmid:16252026]
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 HP:0030680 Abnormality of cardiovascular system morphology "Any structural anomaly of the heart and great vessels." []
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 HP:0030690 Gingival cleft "A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla." []
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 HP:0040019 Finger clinodactyly 
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 HP:0100258 Preaxial polydactyly "A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe." [HPO:probinson]
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 HP:0100259 Postaxial polydactyly "A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe." [HPO:probinson]
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 HP:0100260 Central polydactyly 
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 HP:0100333 Unilateral cleft lip 
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 HP:0100682 Tracheal atresia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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