1. Gene
  2. TMEM94 - transmembrane protein 94 Gene

TMEM94 - transmembrane protein 94 Gene

中文名称:跨膜蛋白 94

种属: Homo sapiens

同用名: IDDCDF; KIAA0195

基因 ID: 9772 | 基因类型: protein coding

关于 TMEM94

Cytogenetic location: 17q25.1 Genomic coordinates (GRCh38): 17:75,456,635-75,500,452 (from NCBI)

This gene has 33 transcripts (splice variants), 206 orthologues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 13.2), testis (RPKM 12.0) and 25 other tissues.

功能概要

预计是膜的组成部分。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]

TMEM94 基因产物(5)

mRNA Protein Name
NM_001321148.2 NP_001308077.1 transmembrane protein 94 isoform 2
NM_001321149.2 NP_001308078.1 transmembrane protein 94 isoform 3
NM_001351202.2 NP_001338131.1 transmembrane protein 94 isoform 4
NM_001351203.2 NP_001338132.1 transmembrane protein 94 isoform 5
NM_014738.6 NP_055553.3 transmembrane protein 94 isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables P-type magnesium transporter activity IDA
IDA: 通过直接分析推断
38513662 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in magnesium ion transport from cytosol to endoplasmic reticulum IMP
IMP: 通过突变表型推断
38513662 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
38513662 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

TMEM94 蛋白结构

Cation_ATPase_C

Cation_ATPase_C: Cation transporting ATPase, C-terminus (1117 - 1329)

  • 0
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  • 1356 a.a.
蛋白主名 其他名称

transmembrane protein 94

关联疾病

疾病名称 别名
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies

IDDCDF

Tmem94-Associated Congenital Heart Defect-Facial Dysmorphism-Developmental Delay Syndrome

Body Dysmorphic Disorder

Dysmorphophobia

Body Dysmorphia

Dysmorphic Syndrome

Body Dysmorphic Disorders

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Hypertrichosis
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
Bos taurus TMEM94 VGNC VGNC:36128
Macaca mulatta TMEM94 VGNC VGNC:79760
Mus musculus TMEM94 MGD MGI:1919197
Canis familiaris TMEM94 VGNC VGNC:47616
Rattus norvegicus TMEM94 RGD RGD:7685108
Felis catus TMEM94 VGNC VGNC:66372