1. Gene
  2. FAM136A - family with sequence similarity 136 member A Gene

FAM136A - family with sequence similarity 136 member A Gene

中文名称:具有序列相似性的家族 136 成员 A

种属: Homo sapiens

基因 ID: 84908 | 基因类型: protein coding

关于 FAM136A

Cytogenetic location: 2p13.3 Genomic coordinates (GRCh38): 2:70,295,976-70,302,067 (from NCBI)

This gene has 6 transcripts (splice variants) and 219 orthologues. Ubiquitous expression in duodenum (RPKM 18.8), thyroid (RPKM 18.0) and 25 other tissues.

功能概要

该基因编码一种跨物种高度保守的线粒体定位蛋白。该基因在多种组织中表达,包括人淋巴母细胞和大鼠壶腹的神经感觉上皮细胞。该基因的突变与家族性梅尼埃病有关,这是一种慢性内耳疾病。在其他染色体上发现了该基因的几个假基因。可变剪接导致多个转录本变体。[RefSeq 提供,2016 年 8 月]

This gene encodes a mitochondrially localized protein that is highly conserved across species. The gene is expressed in a variety of tissues including human lymphoblast cells and rat neurosensorial epithelium of the cristaampullaris. A mutation in this gene has been associated with familial Meniere's disease, a chronic disorder of the inner ear. Several pseudogenes of this gene are found on Other chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]

FAM136A 基因产物(6)

mRNA Protein Name
NM_001329752.2 NP_001316681.1 protein FAM136A isoform 2
NM_001329753.2 NP_001316682.1 protein FAM136A isoform 3
NM_001329755.2 NP_001316684.1 protein FAM136A isoform 4
NM_001329757.2 NP_001316686.1 protein FAM136A isoform 4
NM_001329758.2 NP_001316687.1 protein FAM136A isoform 4
NM_032822.3 NP_116211.2 protein FAM136A isoform 1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 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

FAM136A 蛋白结构

DUF842

DUF842: Eukaryotic protein of unknown function (DUF842) (5 - 133)

  • 0
  • 100
  • 138 a.a.
蛋白主名 其他名称

protein FAM136A

FAM136A 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
FAM136A Q96C01 ANKRD11 Homo sapiens X5D778 32296183
种属内
FAM136A Q96C01 SMARCD1 Homo sapiens Q96GM5 32296183
种属内
FAM136A Q96C01 NTAQ1 Homo sapiens Q96HA8 32296183
种属内
FAM136A Q96C01 DPY30 Homo sapiens Q9C005 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Meniere Disease

Meniere'S Disease

Otogenic Vertigo

Ménière Disease

Ménière'S Disease

Mnire'S Vertigo

Auditory Vertigo

Aural Vertigo

Meniere'S Syndrome

Ménière'S Vertigo

Primary Endolymphatic Hydrops

Menieres Disease

Vertigo, Aural

Labyrinth Hydrops

Labyrinthine Hydrops

Labyrinthine Vertigo

Ménière Syndrome

Ménière Vertigo

Idiopathic Endolymphatic Hydrops

Peripheral Vertigo

Vertigo, Peripheral

Vestibular Disease

Vestibular Diseases

Vertigo, Vestibular Disorder

Vestibular Disorder

Diseases Of Inner Ear

Deafness, Autosomal Dominant 28

DFNA28

Autosomal Dominant Nonsyndromic Deafness 28

Autosomal Dominant Deafness 28

Deafness, Autosomal Dominant, 28

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 28

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 28

Deafness, Autosomal Dominant, Type 28

Deafness, Autosomal Dominant 9

DFNA9

Autosomal Dominant Nonsyndromic Deafness 9

Autosomal Dominant Deafness 9

Deafness, Autosomal Dominant, 9

Deafness, Autosomal Dominant, Type 9

Vertigo, Benign Recurrent

Benign Paroxysmal Positional Vertigo

Bppv

Vestibulopathy, Familial

BRV

Vertigo, Benign Paroxysmal Positional

Benign Paroxysmal Positional Nystagmus

Benign Recurrent Vertigo

Familial Benign Recurrent Vertigo

Familial Vestibulopathy

Benign Paroxysmal Nystagmus

Bppv - [Benign Positional Paroxysmal Vertigo]

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
Rattus norvegicus FAM136A RGD RGD:1304825
Mus musculus FAM136A MGD MGI:1913738