1. Gene
  2. OTOS - otospiralin Gene

OTOS - otospiralin Gene

中文名称:耳螺旋素

种属: Homo sapiens

同用名: OTOSP

基因 ID: 150677 | 基因类型: protein coding

关于 OTOS

Cytogenetic location: 2q37.3 Genomic coordinates (GRCh38): 2:240,139,026-240,140,658 (from NCBI)

This gene has 2 transcripts (splice variants) and 185 orthologues. Restricted expression toward thyroid (RPKM 6.1).

功能概要

耳螺旋素由内耳的非感觉细胞 (纤维细胞) 合成,豚鼠中耳螺旋素的下调会导致耳聋 (Lavigne-Rebillard 等人,2003 [PubMed 12687421]) 。[OMIM 提供,2008 年 3 月]

Otospiralin is synthesized by nonsensory cells (fibrocytes) of the inner ear, and downregulation of otospiralin in guinea pigs leads to deafness (Lavigne-Rebillard et al., 2003 [PubMed 12687421]).[supplied by OMIM, Mar 2008]

OTOS 基因产物(1)

mRNA Protein Name
NM_148961.4 NP_683764.1 otospiralin precursor

OTOS 蛋白结构

OTOS

OTOS: Otospiralin (21 - 89)

  • 0
  • 89 a.a.
蛋白主名 其他名称

otospiralin

关联疾病

疾病名称 别名
Deafness, X-Linked 2

Progressive Deafness With Stapes Fixation

DFNX2

Dfn3

Nance Deafness

Perilymphatic Gusher-Deafness Syndrome

Stapedo-Vestibular Ankylosis

Sensorineural Deafness, Profound, With Or Without A Conductive Component, Associated With A Unique Developmental Abnormality Of The Ear

X-Linked Deafness 2

X-Linked Mixed Conductive And Neurosensory Deafness

X-Linked Mixed Conductive And Sensorineural Deafness

Deafness 3 Conductive With Stapes Fixation

Deafness Conductive With Stapes Fixation

Deafness Mixed With Perilymphatic Gusher

Thies-Reis Syndrome

Deafness, Conductive, With Stapes Fixation

Deafness 3, Conductive, With Stapes Fixation

Deafness, Mixed, With Perilymphatic Gusher

Conductive Deafness 3 With Stapes Fixation

Conductive Deafness With Stapes Fixation

Mixed Deafness With Perilymphatic Gusher

X-Linked Deafness Type 2

X-Linked Mixed Conductive And Neurosensory Hearing Loss

X-Linked Mixed Conductive And Sensorineural Hearing Loss

X-Linked Sensorineural Deafness

X-Linked Stapes Gusher Syndrome

Deafness Mixed With Perilymphatic Gusher, X-Linked

Dfn 3 Nonsyndromic Hearing Loss And Deafness

Gusher Syndrome

Thies Reis Syndrome

Progressive Hearing Loss With Stapes Fixation

Deafness, X-Linked, 2

Deafness Mixed With Perilymph Gusher X-Linked

Deafness, X-Linked, Type 2

Progressive Hearing Loss Stapes Fixation

X-Linked Nonsyndromic Deafness

X-Linked Deafness

Deafness, X-Linked

Usher Syndrome, Type Ic

USH1C

Usher Syndrome Type 1c

Usher Syndrome, Type 1c

Usher Syndrome Type I Acadian Variety

Usher Syndrome Type Ic

Usher Syndrome, Type I, Acadian Variety

Usher Syndrome 1c

Acadian Usher Syndrome

Usher'S Syndrome Type 1c

Deafness, Autosomal Dominant 9

DFNA9

Autosomal Dominant Nonsyndromic Deafness 9

Autosomal Dominant Deafness 9

Deafness, Autosomal Dominant, 9

Deafness, Autosomal Dominant, Type 9

Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness

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
Macaca mulatta OTOS VGNC VGNC:104547
Rattus norvegicus OTOS RGD RGD:708465
Bos taurus OTOS VGNC VGNC:55642
Felis catus OTOS VGNC VGNC:63998
Mus musculus OTOS MGD MGI:2672814
Canis familiaris OTOS VGNC VGNC:44181