ENSG00000170381


Homo sapiens

Features
Gene ID: ENSG00000170381
  
Biological name :SEMA3E
  
Synonyms : O15041 / SEMA3E / semaphorin 3E
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: -1
Band: q21.11
Gene start: 83363238
Gene end: 83649113
  
Corresponding Affymetrix probe sets: 206941_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000496491
Ensembl peptide - ENSP00000303212
Ensembl peptide - ENSP00000405052
Ensembl peptide - ENSP00000415184
Ensembl peptide - ENSP00000494064
NCBI entrez gene - 9723     See in Manteia.
OMIM - 608166
RefSeq - NM_001178129
RefSeq - NM_012431
RefSeq Peptide - NP_001171600
RefSeq Peptide - NP_036563
swissprot - F8WCZ5
swissprot - O15041
Ensembl - ENSG00000170381
  
Related genetic diseases (OMIM): 214800 - ?CHARGE syndrome, 214800
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
 sema3eENSDARG00000036571Danio rerio
 SEMA3EENSGALG00000038225Gallus gallus
 P70275ENSMUSG00000063531Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9NS98 / SEMA3G / semaphorin 3GENSG0000001031950
Q14563 / SEMA3A / semaphorin 3AENSG0000007521347
O95025 / SEMA3D / semaphorin 3DENSG0000015399345
Q13214 / SEMA3B / semaphorin 3BENSG0000001217144
Q13275 / SEMA3F / semaphorin 3FENSG0000000161743
Q99985 / SEMA3C / semaphorin 3CENSG0000007522342
Q9NTN9 / SEMA4G / semaphorin 4GENSG0000009553929
Q9C0C4 / SEMA4C / semaphorin 4CENSG0000016875828
Q92854 / SEMA4D / semaphorin 4DENSG0000018776428
SEMA4B / semaphorin 4BENSG0000018503328
Q9H3S1 / SEMA4A / semaphorin 4AENSG0000019618925
O95754 / SEMA4F / ssemaphorin 4FENSG0000013562225


Protein motifs (from Interpro)
Interpro ID Name
 IPR001627  Sema domain
 IPR007110  Immunoglobulin-like domain
 IPR013151  Immunoglobulin
 IPR013783  Immunoglobulin-like fold
 IPR015513  Semaphorin 3E
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR016201  PSI domain
 IPR027231  Semaphorin
 IPR036179  Immunoglobulin-like domain superfamily
 IPR036352  Sema domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001525 angiogenesis IEA
 biological_processGO:0001569 branching involved in blood vessel morphogenesis ISS
 biological_processGO:0001953 negative regulation of cell-matrix adhesion ISS
 biological_processGO:0002040 sprouting angiogenesis ISS
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0008360 regulation of cell shape ISS
 biological_processGO:0016525 negative regulation of angiogenesis ISS
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0050808 synapse organization ISS
 biological_processGO:0050919 negative chemotaxis IBA
 biological_processGO:0071526 semaphorin-plexin signaling pathway ISS
 biological_processGO:2000249 regulation of actin cytoskeleton reorganization ISS
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0030215 semaphorin receptor binding IPI
 molecular_functionGO:0038191 neuropilin binding IBA


Pathways (from Reactome)
Pathway description
Other semaphorin interactions


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:0000044 Hypogonadotrophic hypogonadism "Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [HPO:curators]
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 HP:0000048 Bifid scrotum "Separation of the two halves of the scrotum, whereby commonly the 2 halves of the scrotum meet above the penis." [HPO:curators]
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 HP:0000054 Micropenis 
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 HP:0000066 Labial hypoplasia 
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 HP:0000076 Vesicoureteral reflux "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:curators]
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 HP:0000085 Horseshoe kidney 
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 HP:0000089 Renal hypoplasia 
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 HP:0000104 Renal agenesis 
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 HP:0000126 Hydronephrosis 
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 HP:0000160 Microstomia "The presence of an abnormally small `mouth` (FMA:49184)." [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: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:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
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 HP:0000272 Malar hypoplasia "Underdeveloped midface region." [HPO:curators]
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 HP:0000275 Narrow face 
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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:0000316 Hypertelorism 
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 HP:0000321 Square face 
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 HP:0000324 Facial asymmetry 
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 HP:0000347 Mandibular hypoplasia "Underdevelopment of the mandible." [HPO:curators]
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 HP:0000365 Hearing loss 
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 HP:0000368 Low-set, posteriorly rotated ears 
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 HP:0000378 Cup-shaped ears "Small auricles that grow forward over the meatus (ear canal)." [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:0000394 Lop ears "The term lop ear refers to excessive protrusion of the ear from the side of the head, that is, the external ear stands away from the head at a greater than normal angle (Normal angle of the auricle to the median plane averages 25 degrees in boys and 18 degrees in girls). Lop ears are usually larger than normal ears." [HPO:curators]
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 HP:0000396 Overfolded helices "A condition in which the upper edge of the ear is folded over to a greater degree than normal." [HPO:curators]
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 HP:0000410 Mixed hearing loss 
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 HP:0000453 Choanal atresia "Absence or abnormal closure of the choana (the posterior nasal aperture)." [HPO:curators]
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 HP:0000458 Anosmia "An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell." [HPO:curators]
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 HP:0000465 Webbed neck 
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 HP:0000480 Retinal coloboma 
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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:0000494 Downward slanting palpebral fissures 
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 HP:0000504 Abnormality of vision "Abnormality of eyesight (visual perception)." [HPO:curators]
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 HP:0000508 Ptosis "Drooping of the eyelid." [HPO:curators]
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 HP:0000528 Anophthalmia "Absence of a true eyeball." [HPO:curators]
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 HP:0000567 Chorioretinal coloboma 
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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:0000612 Iris coloboma "A `coloboma` (HP:0000589) of the `iris` (FMA:58235)." [HPO:probinson]
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 HP:0000625 Eyelid, cleft "A short discontinuity of the margin of the lower or upper eyelid." [pmid:19125427]
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 HP:0000632 Lacrimation abnormality 
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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:0000684 Delayed dentition "Delayed eruption of teeth." [HPO:curators]
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 HP:0000717 Autism 
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 HP:0000722 Obsessive-compulsive disorder 
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 HP:0000771 Gynecomastia 
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 HP:0000772 Abnormality of the ribs 
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 HP:0000786 Primary amenorrhea 
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 HP:0000789 Infertility 
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 HP:0000821 Hypothyroidism 
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 HP:0000823 Delayed puberty 
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 HP:0000824 Growth hormone deficiency "Insufficient production of growth hormone, which is produced by the anterior pituitary gland." [HPO:curators]
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 HP:0000830 Hypopituitarism "A condition of reduced function of the pituitary gland characterized by decreased secretion of one or more of the eight pituitary hormones." [HPO:curators]
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 HP:0000834 Abnormality of the adrenal glands "Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys." [HPO:curators]
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 HP:0000860 Parathyroid hypoplasia 
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 HP:0001018 Abnormal palmar dermatoglyphics "An abnormality of the dermatoglyphs of the palms." [HPO:curators]
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 HP:0001156 Brachydactyly 
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 HP:0001161 Polydactyly (hands) 
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 HP:0001249 Mental retardation 
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 HP:0001252 Muscular hypotonia "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [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: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:0001360 Holoprosencephaly "Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles." [gc:hpe]
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 HP:0001511 Intrauterine growth retardation 
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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:0001539 Omphalocele 
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 HP:0001561 Polyhydramnios 
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 HP:0001601 Laryngomalacia 
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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:0001636 Tetralogy of Fallot "A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present." [HPO:curators]
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 HP:0001642 Pulmonic stenosis "A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis). Infundibular pulmonic stenosis is mostly caused by overgrowth of the heart muscle wall (hypertrophy of the septoparietal trabeculae). Pulmonic stenosis is often seen as a part of Fallot s tetralogy, in which case the events leading to the formation of the overriding aorta are also believed to be a cause of the pulmonic stenosis. The pulmonic stenosis is the major cause of the malformations seen in patients with Fallot tetralogy, with the other associated malformations acting as compensatory mechanisms to the pulmonic stenosis. The degree of stenosis varies between individuals with TOF, and is the primary determinant of symptoms and severity. This malformation is infrequently described as sub-pulmonary stenosis or subpulmonary obstruction." [HPO:curators]
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 HP:0001643 Patent ductus arteriosus 
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 HP:0001646 Abnormality of the aortic valve "Any abnormality of the `aortic valve` (FMA:7236)." [HPO:curators]
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 HP:0001671 Abnormality of the cardiac septa 
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 HP:0001719 Double outlet right ventricle 
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 HP:0001883 Talipes 
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 HP:0001888 Lymphopenia 
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 HP:0002015 Dysphagia "Difficulty in swallowing." [HPO:curators]
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 HP:0002020 Gastroesophageal reflux 
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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:0002025 Anal stenosis "Abnormal narrowing of the anal opening." [HPO:curators]
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 HP:0002032 Esophageal atresia "A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach." [HPO:curators]
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 HP:0002093 Respiratory insufficiency 
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 HP:0002139 Arrhinencephaly 
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 HP:0002215 Sparse axillary hair 
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 HP:0002225 Sparse pubic hair 
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 HP:0002247 Duodenal atresia "A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum." [HPO:curator]
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 HP:0002410 Aqueductal stenosis "Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum." [HPO:curators]
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 HP:0002553 Arched eyebrows 
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 HP:0002575 Tracheoesophageal fistula "An abnormal connection (fistula) between the esophagus and the trachea." [HPO:curators]
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0002901 Hypocalcemia "A level of blood calcium that is lower than normal." [HPO:curators]
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 HP:0002937 Hemivertebrae 
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 HP:0002992 Abnormality of the tibia "Abnormality of the tibia (shinbone)." [HPO:curators]
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 HP:0003022 Hypoplasia of the ulna "Underdevelopment of the ulna." [HPO:curators]
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 HP:0003745 Sporadic 
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 HP:0003812 Phenotypic variability 
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 HP:0003974 Absent ossification/absence of radius 
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 HP:0004058 Monodactyly 
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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:0004348 Abnormality of bone mineral density "This term applies to all changes in bone mineralisation and or ossification which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atypic calicfications of different origin and distribution. The overall amount of mineralisation of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient s age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ." [HPO:curators]
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 HP:0004496 Posterior choanal atresia "Absence or abnormal closure of the posterior portion of the choana (the posterior nasal aperture)." [HPO:curators]
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 HP:0005113 Dilatation of the aortic arch 
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 HP:0005280 Depressed nasal root and bridge 
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 HP:0007018 Attention deficit hyperactivity disorder "Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient." [HPO:curators]
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 HP:0007360 Aplasia/Hypoplasia of the cerebellum 
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 HP:0008213 Pituitary gonadotropin deficiency 
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 HP:0008551 Underdeveloped ears 
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 HP:0008572 External ear malformation 
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 HP:0008734 Decreased testicular size 
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 HP:0008872 Feeding problems in infancy 
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 HP:0008897 Growth retardation, progressive 
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 HP:0009778 Hypoplastic/small thumb 
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 HP:0009906 Aplasia/Hypoplasia of the earlobes "Absence or underdevelopment of the ear lobes." [HPO:curators]
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 HP:0010443 Bifid femur "A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side." [HPO:curators]
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 HP:0010515 Aplasia/Hypoplasia of the thymus "Absence or underdevelopment of the thymus." [HPO:curators]
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 HP:0010628 Facial muscle weakness "A weakness of any or all of the muscles of the face of any etiology." [HPO:curators]
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 HP:0010669 Hypoplasia of the zygomatic bone "Underdevelopment of the `zygomatic bone` (FMA:52747)." [HPO:probinson]
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 HP:0010751 Chin dimple "A persistent midline depression of the skin over the fat pad of the chin." [pmid:19125436]
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 HP:0010978 Abnormality of immune system physiology "A functional abnormality of the `immune system` (FMA:9825)." [HPO:probinson, MP:0001790]
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 HP:0011382 Hypoplasia of the semicircular canal "Underdevelopment of the semicircular canal." [DDD:dfitzpatrick]
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 HP:0011611 Interrupted aortic arch "Non-continuity of the aortic arch with an atretic point or absent segment." [DDD:dbrown]
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 HP:0011968 Feeding difficulties "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs]
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 HP:0100736 Abnormality of the soft palate "An abnormality of the `soft palate` (FMA:55021)." [HPO:probinson]
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 HP:0200021 Rounded shoulders 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000004399 PLXND1 / Q9Y4D7 / plexin D1  / complex / reaction






 

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