1. Gene
  2. TTYH2 - tweety family member 2 Gene

TTYH2 - tweety family member 2 Gene

中文名称:tweety 家族成员 2

种属: Homo sapiens

同用名: C17orf29

基因 ID: 94015 | 基因类型: protein coding

关于 TTYH2

Cytogenetic location: 17q25.1 Genomic coordinates (GRCh38): 17:74,213,571-74,262,020 (from NCBI)

This gene has 9 transcripts (splice variants), 283 orthologues and 2 paralogues. Biased expression in brain (RPKM 43.8), testis (RPKM 8.8) and 11 other tissues.

功能概要

该基因编码 tweety 蛋白质家族的成员。这个家族的成员起到氯离子通道的作用。编码的蛋白质作为钙 (2+) 激活的大电导氯化物 (-) 通道发挥作用,并可能在肾肿瘤发生中发挥作用。已经为该基因鉴定了编码不同亚型的两个转录物变体。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-activated large conductance chloride(-) channel, and may play a role in kidney tumorigenesis. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

TTYH2 基因产物(3)

mRNA Protein Name
NM_001330453.2 NP_001317382.1 protein tweety homolog 2 isoform 3
NM_032646.6 NP_116035.5 protein tweety homolog 2 isoform 1
NM_052869.1 NP_443101.1 protein tweety homolog 2 isoform 2
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
NOT enables chloride channel activity IDA
IDA: 通过直接分析推断
34385445 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
18577513 GOA
NOT enables volume-sensitive anion channel activity IDA
IDA: 通过直接分析推断
34385445 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in plasma membrane IDA
IDA: 通过直接分析推断
18260827 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

TTYH2 蛋白结构

Tweety

Tweety: Tweety (27 - 433)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 534 a.a.
蛋白主名 其他名称

protein tweety homolog 2

hTTY2

TTYH2 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
TTYH2 Q9BSA4 COPB1 Homo sapiens P53618
Y2H
30670146
种属内
TTYH2 Q9BSA4 COPB1 Homo sapiens P53618 30670146
种属内
TTYH2 Q9BSA4 COPB1 Homo sapiens P53618 30670146
种属内
TTYH2 Q9BSA4 COPB1 Homo sapiens P53618 30670146
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
Charcot-Marie-Tooth Disease, Axonal, Type 2cc

Charcot-Marie-Tooth Disease Axonal Type 2cc

CMT2CC

Charcot-Marie-Tooth Neuropathy, Type 2cc

Charcot-Marie-Tooth Neuropathy Type 2cc

Charcot-Marie-Tooth Disease 2cc

Immunodeficiency 50

Combined Immunodeficiency Due To Moesin Deficiency

IMD50

Immunodeficiency 50, X-Linked Recessive

Cid Due To Moesin Deficiency

Msn-Related Combined Immunodeficiency

X-Linked Moesin-Associated Immunodeficiency

Immunodeficiency 50 X Linked Recessive

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 TTYH2 MGD MGI:2157091
Canis familiaris TTYH2 VGNC VGNC:49681
Rattus norvegicus TTYH2 RGD RGD:1562969
Macaca mulatta TTYH2 VGNC VGNC:78939
Bos taurus TTYH2 VGNC VGNC:36501
Felis catus TTYH2 VGNC VGNC:66694