2. Gene
  3. TTC7B - tetratricopeptide repeat domain 7B Gene

TTC7B - tetratricopeptide repeat domain 7B Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：四肽重复域 7B

种属: Homo sapiens

同用名: TTC7L1; c14_5685

基因 ID: 145567 | 基因类型: protein coding

关于 TTC7B

Cytogenetic location: 14q32.11 Genomic coordinates (GRCh38): 14:90,524,564-90,816,430 (from NCBI)

This gene has 15 transcripts (splice variants), 211 orthologues and 14 paralogues. Ubiquitous expression in brain (RPKM 16.7), fat (RPKM 9.9) and 25 other tissues.

功能概要

参与磷脂酰肌醇磷酸盐生物合成过程和蛋白质在质膜上的定位。位于胞质溶胶和质膜中。 [由基因组资源联盟提供，2022 年 4 月]

Involved in phosphatidylinositol phosphate biosynthetic process and protein localization to plasma membrane. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

TTC7B 基因产物(3)

mRNA Protein Name
NM_001010854.2 NP_001010854.1 tetratricopeptide repeat protein 7B isoform 1
NM_001320421.2 NP_001307350.1 tetratricopeptide repeat protein 7B isoform 2
NM_001401365.1 NP_001388294.1 tetratricopeptide repeat protein 7B isoform 3
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 protein binding IPI
IPI: 通过物理相互作用推断
23229899 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in phosphatidylinositol phosphate biosynthetic process IDA
IDA: 通过直接分析推断
23229899 GOA
involved in protein localization to plasma membrane IDA
IDA: 通过直接分析推断
23229899 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
23229899 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
23229899 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

TTC7B 蛋白结构

TPR_9

TPR_9: Tetratricopeptide repeat (375 - 439)

TPR_11

TPR_11: TPR repeat (695 - 761)

TPR_8

TPR_8: Tetratricopeptide repeat (768 - 794)

TPR_2

TPR_2: Tetratricopeptide repeat (799 - 828)

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

tetratricopeptide repeat protein 7B

TPR repeat protein 7-like-1

关联疾病

疾病名称 别名
Hypomyelinating Leukoencephalopathy
Gastrointestinal Defects And Immunodeficiency Syndrome 1

Familial Intestinal Polyatresia Syndrome

Fipa

Gastrointestinal Defects And Immunodeficiency Syndrome

Multiple Gastrointestinal Atresias

Familial Isolated Pituitary Adenoma

Intestinal Atresia, Multiple

Multiple Intestinal Atresia

GIDID1

Multiple Intestinal Atresia And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency

Minat

Gidid

Meddra:10028210

Familial Isolated Pituitary Adenoma Syndrome

Intestinal Atresia Multiple

Combined Immunodeficiency-Enteropathy Spectrum

Cid-Mia/Early-Onset Ibd

Intestinal Atresia, Multiple And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency

Mia

Gastrointestinal Defect And Immunodeficiency Syndrome

Pituitary Adenoma Predisposition

Pituitary Adenoma, Familial Isolated
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS15219 TTC7B Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus TTC7B RGD RGD:1305920
Mus musculus TTC7B MGD MGI:2144724
Macaca mulatta TTC7B VGNC VGNC:79205
Bos taurus TTC7B VGNC VGNC:36481
Felis catus TTC7B VGNC VGNC:66676
Canis familiaris TTC7B VGNC VGNC:47962
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