TENM3 - teneurin transmembrane protein 3 Gene

Also Known as ODZ3; TEN3; TNM3; ten-3; Ten-m3; MCOPCB9; MCOPS15

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55714

About TENM3

Cytogenetic location: 4q34.3-q35.1 Genomic coordinates (GRCh38): 4:181,447,613-182,803,024 (from NCBI)

This gene has 6 transcripts (splice variants), 327 orthologues, 4 paralogues and is associated with 3 phenotypes. Broad expression in placenta (RPKM 7.1), brain (RPKM 4.3) and 14 other tissues.

Summary

This gene encodes a large transmembrane protein that may be involved in the regulation of neuronal development. Mutation in this gene causes microphthalmia. [provided by RefSeq, Aug 2015]

TENM3 Products (1)

mRNA Protein Name
NM_001080477.4 NP_001073946.1 teneurin-3
Biological Process GO Annotation Evidence References Source
involved in camera-type eye morphogenesis IMP
IMP: Inferred from mutant phenotype
22766609 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TENM3 Protein Structure

Ten_N

Ten_N: Teneurin Intracellular Region (11 - 175)

Ten_N

Ten_N: Teneurin Intracellular Region (170 - 308)

Tox-GHH

Tox-GHH: GHH signature containing HNH/Endo VII superfamily nuclease toxin (2614 - 2692)

  • 0
  • 500
  • 1000
  • 1500
  • 2000
  • 2500
  • 2699 a.a.
Protein Preferred Names Protein Names

teneurin-3

  • ODZ3-like protein

Related Diseases

Diseases Alias
Microphthalmia, Isolated, With Coloboma 9
  • MCOPCB9

  • Microphthalmia, Syndromic 15

  • Microphthalmia, Isolated, With Coloboma, 9

  • Isolated Colobomatous Microphthalmia 9

  • Microphthalmia, Syndromic, 15

  • MCOPS15

  • Microphthalmia And/Or Coloboma With Developmental Delay

  • Microphthalmia, Isolated, With Coloboma, Type 9

Colobomatous Microphthalmia
  • Anophthalmia-Microphthalmia Syndrome

  • Mac

  • Microphthalmia With Colobomatous Cyst

  • Microphthalmia-Anophthalmia-Coloboma Syndrome

  • Microphthalmia-Anophthalmia-Coloboma

  • Microphthalmia And Mental Deficiency

Microphthalmia
  • Microphthalmos

  • Isolated Anophthalmia-Microphthalmia Syndrome

  • Isolated Microphthalmia-Anophthalmia-Coloboma

  • Simple Microphthalmos

  • Clinical Anophthalmia

  • Isolated Anophthalmia - Microphthalmia

  • Isolated Pure Microphthalmia

  • Mac Spectrum

  • Microphthalmia-Anophthalmia-Coloboma Spectrum

  • Primitive Anophthalmia

  • Globe Of Eye Small

  • Small Eyeball

  • Hypoplasia Of Eye

  • Isolated Nanophthalmos

  • Rudimentary Eye

  • Dysplasia Of Eye

Sclerocornea
  • Isolated Congenital Sclerocornea

Spinocerebellar Ataxia, Autosomal Recessive 12
  • Autosomal Recessive Spinocerebellar Ataxia 12

  • SCAR12

  • Spinocerebellar Ataxia With Mental Retardation And Epilepsy

  • Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency

  • Autosomal Recessive Spinocerebellar Ataxia Type 12

  • Spinocerebellar Ataxia, Autosomal Recessive, 12

  • Ataxia, Spinocerebellar, Autosomal Recessive, Type 12

Anterior Segment Dysgenesis
  • Anterior Segment Developmental Anomaly

  • Anterior Segment Mesenchymal Dysgenesis

  • Corneal Opacification And Other Ocular Anomalies

  • Sclerocornea With Other Ocular Anomalies

  • Asmd

  • Asod

  • Anterior Segment Ocular Dysgenesis

  • Foxe3-Related Ocular Disorder

  • Familial Ocular Anterior Segment Mesenchymal Dysgenesis

  • Dysgenesis, Anterior Segment

  • Irido-Corneal Dysgenesis

  • Axenfeld-Rieger Syndrome, Type 3

Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
  • Wilson-Turner Syndrome

  • WTS

  • Mrxs6

  • X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome

  • Mrxswt

  • Wilson-Turner X-Linked Mental Retardation Syndrome

  • Mental Retardation, X-Linked, Syndromic 6

  • Mental Retardation, X-Linked, With Gynecomastia And Obesity

  • Intellectual Disability, X-Linked, Syndromic 6

  • Intellectual Disability, X-Linked, With Gynecomastia And Obesity

  • Wilson Turner Intellectual Disability Syndrome

  • X-Linked Intellectual Disability - Gynecomastia - Obesity

Ptosis
  • Blepharoptosis

  • Drooping Eyelid

  • Droopy Eyelid

  • Ptosis Of Eyelid

  • Paralysis Of Levator Palpebrae Superioris

Syndromic X-Linked Intellectual Disability
  • X-Linked Syndromic Intellectual Disability

Coloboma Of Macula
  • Coloboma

  • Congenital Ocular Coloboma

  • Microphthalmia, Isolated, With Coloboma

  • Agenesis Of Macula

  • Hereditary Macular Coloboma

  • Ocular Coloboma

  • Coloboma Of Eye

  • Macular Coloboma

  • Uveoretinal Coloboma

Syndromic Intellectual Disability
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus TENM3 MGD MGI:1345183
Macaca mulatta TENM3 VGNC VGNC:100277
Felis catus TENM3 VGNC VGNC:66071
Rattus norvegicus TENM3 RGD RGD:1306641
Canis familiaris TENM3 VGNC VGNC:47248
Bos taurus TENM3 VGNC VGNC:35743