ENSG00000218336


Homo sapiens

Features
Gene ID: ENSG00000218336
  
Biological name :TENM3
  
Synonyms : Q9P273 / teneurin transmembrane protein 3 / TENM3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: 1
Band: q34.3
Gene start: 182143987
Gene end: 182803024
  
Corresponding Affymetrix probe sets: 1559661_at (Human Genome U133 Plus 2.0 Array)   219523_s_at (Human Genome U133 Plus 2.0 Array)   227050_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000424226
Ensembl peptide - ENSP00000426914
Ensembl peptide - ENSP00000421320
NCBI entrez gene - 55714     See in Manteia.
OMIM - 610083
RefSeq - XM_017008396
RefSeq - XM_017008391
RefSeq - XM_017008392
RefSeq - XM_017008393
RefSeq - XM_017008394
RefSeq - XM_017008395
RefSeq - NM_001080477
RefSeq - XM_017008385
RefSeq - XM_017008386
RefSeq - XM_017008387
RefSeq - XM_017008388
RefSeq - XM_017008389
RefSeq - XM_017008390
RefSeq Peptide - NP_001073946
swissprot - D6RGC5
swissprot - H0YAF0
swissprot - A0A140VJW8
swissprot - Q9P273
Ensembl - ENSG00000218336
  
Related genetic diseases (OMIM): 615145 - Microphthalmia, isolated, with coloboma 9, 615145
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
 tenm3ENSDARG00000005479Danio rerio
 TENM3ENSDARG00000087599Danio rerio
 ENSGALG00000043815Gallus gallus
 ENSGALG00000033966Gallus gallus
 Tenm3ENSMUSG00000031561Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TENM4 / Q6N022 / teneurin transmembrane protein 4ENSG0000014925669
TENM2 / Q9NT68 / teneurin transmembrane protein 2ENSG0000014593465
TENM1 / Q9UKZ4 / teneurin transmembrane protein 1ENSG0000000969460
VWDE / Q8N2E2 / von Willebrand factor D and EGF domainsENSG000001465309
WIF1 / Q9Y5W5 / WNT inhibitory factor 1ENSG000001560763


Protein motifs (from Interpro)
Interpro ID Name
 IPR000742  EGF-like domain
 IPR006530  YD repeat
 IPR008969  Carboxypeptidase-like, regulatory domain superfamily
 IPR009471  Teneurin intracellular, N-terminal
 IPR011042  Six-bladed beta-propeller, TolB-like
 IPR013032  EGF-like, conserved site
 IPR022385  Rhs repeat-associated core
 IPR027688  Teneurin-1/4
 IPR027689  Teneurin-2/3
 IPR028916  Tox-GHH domain
 IPR036322  WD40-repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000902 cell morphogenesis IBA
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules ISS
 biological_processGO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules IBA
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0010976 positive regulation of neuron projection development ISS
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0048593 camera-type eye morphogenesis IMP
 biological_processGO:0048666 neuron development IBA
 biological_processGO:0097264 self proteolysis IEA
 cellular_componentGO:0005887 integral component of plasma membrane IBA
 cellular_componentGO:0016020 membrane ISS
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043005 neuron projection IBA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IBA
 molecular_functionGO:0046982 protein heterodimerization activity IBA
 molecular_functionGO:0050839 cell adhesion molecule binding IBA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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:0000482 Microcornea "A congenital abnormality of the `cornea` (FMA:58238) in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood." [HPO:probinson]
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 HP:0000505 Impaired vision 
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 HP:0000541 Detached retina 
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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:0000612 Iris coloboma "A `coloboma` (HP:0000589) of the `iris` (FMA:58235)." [HPO:probinson]
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 HP:0007663 Decreased central vision 
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 HP:0012043 Pendular nystagmus "Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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