ENSG00000173040


Homo sapiens

Features
Gene ID: ENSG00000173040
  
Biological name :EVC2
  
Synonyms : EVC2 / EvC ciliary complex subunit 2 / Q86UK5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: -1
Band: p16.2
Gene start: 5542772
Gene end: 5709548
  
Corresponding Affymetrix probe sets: 1555256_at (Human Genome U133 Plus 2.0 Array)   229974_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000423876
Ensembl peptide - ENSP00000431981
Ensembl peptide - ENSP00000311683
Ensembl peptide - ENSP00000342144
NCBI entrez gene - 132884     See in Manteia.
OMIM - 607261
RefSeq - XM_017007739
RefSeq - NM_147127
RefSeq - XM_017007735
RefSeq - XM_017007736
RefSeq - XM_017007737
RefSeq - XM_017007738
RefSeq - NM_001166136
RefSeq Peptide - NP_001159608
RefSeq Peptide - NP_667338
swissprot - E9PFT2
swissprot - Q86UK5
swissprot - A0A0C4DGE7
Ensembl - ENSG00000173040
  
Related genetic diseases (OMIM): 193530 - Weyers acrofacial dysostosis, 193530
  225500 - Ellis-van Creveld syndrome, 225500
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
 EVC2ENSGALG00000015029Gallus gallus
 Evc2ENSMUSG00000050248Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR022076  Limbin
 IPR026501  Limbin/Ellis-van Creveld protein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007224 smoothened signaling pathway IEA
 cellular_componentGO:0005634 nucleus ISS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005929 cilium ISS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0060170 ciliary membrane TAS
 cellular_componentGO:0098797 plasma membrane protein complex IEA


Pathways (from Reactome)
Pathway description
Hedgehog on state
Activation of SMO


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:0000008 Abnormality of female internal genitalia 
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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:0000039 Epispadias "Displacement of the urethral opening on the dorsal (superior) surface of the penis." [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:0000072 Hydroureter "The distention of the ureter with urine." [HPO:curators]
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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: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:0000233 Thin vermillion border 
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 HP:0000395 Prominent antihelix "Abnormally prominent antihelix." [HPO:curators]
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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:0000601 Hypotelorism 
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 HP:0000668 Hypodontia "Hypodontia describes a situation when there are fewer than the normal number of teeth, whereby 6 teeth or fewer teeth are missing (oligodontia refers to the condition of missing more than 6 teeth and the congenital absence of all teeth is called anodontia)." [HPO:curators]
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 HP:0000684 Delayed dentition "Delayed eruption of teeth." [HPO:curators]
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 HP:0000691 Microdontia 
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 HP:0000695 Neonatal teeth 
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 HP:0000698 Conical teeth 
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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:0000773 Short ribs 
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 HP:0000774 Narrow chest 
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 HP:0000888 Short, horizontal ribs 
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 HP:0000968 Ectodermal dysplasia 
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 HP:0001156 Brachydactyly 
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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:0001231 Abnormality of the fingernails "An abnormality of the `fingernails` (FMA:54327)." [HPO:probinson]
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 HP:0001241 Capitate-hamate fusion 
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 HP:0001249 Mental retardation 
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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:0001508 Failure to thrive 
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 HP:0001511 Intrauterine growth retardation 
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 HP:0001629 Ventricular septal defect "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators]
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 HP:0001631 Atrial septal defect "Atrial septal defect (ASD) is a congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The three common types of ASD are sinus venosus defects, ostium secundum defects, and ostium primum defects." [HPO:curators]
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 HP:0001654 Abnormality of the heart valves "An abnormality of a `Cardiac valve` (FMA:7110)." [HPO:probinson]
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 HP:0001696 Situs inversus "A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs." [HPO:curators]
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 HP:0001762 Talipes equinovarus "Also called clubfoot typically has 4 main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus." [HPO:curators]
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 HP:0001792 Nail hypoplasia "Underdeveloped `fingernails` (FMA:54327) or `toenails` (FMA:54328)." [HPO:probinson]
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 HP:0001800 Hypoplastic toenails "Underdeveloped toenails." [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:0002006 Facial cleft 
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 HP:0002097 Emphysema 
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 HP:0002164 Nail dysplasia 
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 HP:0002488 Acute leukemia 
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 HP:0002644 Abnormality of the pelvis "An abnormality of the bony pelvis (pelvic girdle); which is a ring of bones connecting the vertebral column to the femurs." [HPO:curators]
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 HP:0002750 Delayed skeletal maturation "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators]
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 HP:0002857 Genu valgum 
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 HP:0002866 Hypoplastic iliac wings 
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 HP:0002967 Cubitus valgus 
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 HP:0002983 Micromelia 
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 HP:0003026 Short long bones 
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 HP:0003502 Mild short stature "A mild degree of short stature." [HPO:curators]
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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:0004279 Hypoplastic hand 
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 HP:0005048 fusion of carpal bones, especially capitate and hamate 
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 HP:0005561 Generalized abnormality of the bone marrow 
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 HP:0006035 Cone-shaped epiphyses of phalanges 2 to 5 
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 HP:0006288 Premature eruption of teeth 
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 HP:0006315 Single median maxillary central incisor "The presence of a single, centrally located maxillary `Incisor tooth` (FMA:12823) instead of the normal complement of a left and a right maxillary incisor tooth." [HPO:curators]
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 HP:0006477 Abnormality of the alveolar ridges "Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth." [HPO:curators]
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 HP:0006695 Tricuspid and mitral valves are replaced by a single inlet valve 
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 HP:0006703 Aplasia/Hypoplasia of the lungs 
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 HP:0008404 Nail dystrophy, variable 
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 HP:0008678 Renal hypoplasia/aplasia 
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 HP:0008921 Neonatal short-limbed dwarfism 
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 HP:0009738 Abnormal antihelix "An abnormal form of the antihelix, which is the curved prominence of cartilage, parallel with and in front of the helix, and which divides into the crura antihelicis, between which is a triangular depression, the fossa triangularis." [HPO:curators]
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 HP:0009882 Hypoplasia of the distal phalanges of the hand 
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 HP:0010306 Short thorax "Reduced inferior to superior extent of the thorax." [HPO:curators]
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 HP:0010454 Acetabular spurs "The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum." [HPO:curators]
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 HP:0010557 Overlapping fingers "Overlapping of the fingers occuring as the result of a deviation of the fingers from their normal position." [HPO:curators]
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 HP:0011065 Conical incisor "An abnormal `conical` (PATO:0002021) morphology of the `incisor tooth` (FMA:12823)." [HPO:ibailleulforestier]
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 HP:0011362 Abnormal hair quantity "An abnormal amount of hair." [DDD:cmoss]
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 HP:0011565 Common atrium "Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections." [DDD:dbrown, HPO:probinson]
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 HP:0011830 Abnormality of oral mucosa "Abnormality of the `oral mucosa` (FMA:59660)." [HPO:probinson]
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 HP:0100797 Toenail dysplasia "An abnormality of the development of the toenails." [HPO:probinson]
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 HP:0200055 Small hands 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000072840 EVC / P57679 / EvC ciliary complex subunit 1  / complex
 ENSG00000128602 SMO / Q99835 / smoothened, frizzled class receptor  / reaction / complex
 ENSG00000106012 IQCE / Q6IPM2 / IQ motif containing E  / reaction / complex
 ENSG00000203965 A8K855 / EFCAB7 / EF-hand calcium binding domain 7  / complex / reaction






 

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