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  2. TENM3 - teneurin transmembrane protein 3 Gene

TENM3 - teneurin transmembrane protein 3 Gene

中文名称:肌腱蛋白跨膜蛋白 3

种属: Homo sapiens

同用名: ODZ3; TEN3; TNM3; ten-3; Ten-m3; MCOPCB9; MCOPS15

基因 ID: 55714 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种可能参与神经元发育调节的大型跨膜蛋白。该基因的突变会导致小眼症。[RefSeq 提供,2015 年 8 月]

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 基因产物(1)

mRNA Protein Name
NM_001080477.4 NP_001073946.1 teneurin-3
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in camera-type eye morphogenesis IMP
IMP: 通过突变表型推断
22766609 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

TENM3 蛋白结构

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.
蛋白主名 其他名称

teneurin-3

ODZ3-like protein

关联疾病

疾病名称 别名
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
疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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