1. Gene
  2. TTC39B - tetratricopeptide repeat domain 39B Gene

TTC39B - tetratricopeptide repeat domain 39B Gene

中文名称:四肽重复结构域 39B

种属: Homo sapiens

同用名: C9orf52

基因 ID: 158219 | 基因类型: protein coding

关于 TTC39B

Cytogenetic location: 9p22.3 Genomic coordinates (GRCh38): 9:15,163,622-15,307,216 (from NCBI)

This gene has 9 transcripts (splice variants), 257 orthologues and 2 paralogues. Ubiquitous expression in kidney (RPKM 3.7), gall bladder (RPKM 3.5) and 25 other tissues.

功能概要

预计参与多个过程,包括胆固醇稳态;胆固醇储存的负调节;和调节胆固醇流出。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to be involved in several processes, including Cholesterol homeostasis; negative regulation of Cholesterol storage; and regulation of Cholesterol efflux. [provided by Alliance of Genome Resources, Apr 2022]

TTC39B 基因产物(5)

mRNA Protein Name
NM_001168339.2 NP_001161811.2 tetratricopeptide repeat protein 39B isoform 2
NM_001168340.2 NP_001161812.2 tetratricopeptide repeat protein 39B isoform 3
NM_001168341.2 NP_001161813.2 tetratricopeptide repeat protein 39B isoform 4
NM_001168342.2 NP_001161814.1 tetratricopeptide repeat protein 39B isoform 5
NM_152574.3 NP_689787.3 tetratricopeptide repeat protein 39B 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
25416956 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

TTC39B 蛋白结构

DUF3808

DUF3808: Protein of unknown function (DUF3808) (142 - 598)

TPR_8

TPR_8: Tetratricopeptide repeat (629 - 652)

  • 0
  • 200
  • 400
  • 600
  • 682 a.a.
蛋白主名 其他名称

tetratricopeptide repeat protein 39B

TPR repeat protein 39B

关联疾病

疾病名称 别名
Hypoalphalipoproteinemia, Primary, 1

Familial Hdl Deficiency

Fha

High Density Lipoprotein Deficiency

Familial Hypoalphalipoproteinemia

Hypoalphalipoproteinemia, Familial

Hdld

Fhd

Hdl Deficiency, Type 2

Primary Hypoalphalipoproteinemia 1

Hdl Cholesterol, Low Serum

Hdlc

Hdl Deficiency, Familial, 1

Hypoalphalipoproteinemia, Primary

Low Serum Hdl Cholesterol

Primary Hypoalphalipoproteinemia

FHA1

Hdld2

High Density Lipoprotein Deficiency 2

Hypoalphalipoproteinemias

Apolipoprotein A-I Deficiency

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
Canis familiaris TTC39B VGNC VGNC:47957
Mus musculus TTC39B MGD MGI:1917113
Bos taurus TTC39B VGNC VGNC:36476
Felis catus TTC39B VGNC VGNC:66671
Rattus norvegicus TTC39B RGD RGD:1305797
Macaca mulatta TTC39B VGNC VGNC:79402