1. Gene
  2. TDRD7 - tudor domain containing 7 Gene

TDRD7 - tudor domain containing 7 Gene

中文名称:含 Tudor 域 7

种属: Homo sapiens

同用名: TRAP; CATC4; PCTAIRE2BP

基因 ID: 23424 | 基因类型: protein coding

关于 TDRD7

Cytogenetic location: 9q22.33 Genomic coordinates (GRCh38): 9:97,412,096-97,496,125 (from NCBI)

This gene has 2 transcripts (splice variants), 265 orthologues, 6 paralogues and is associated with 3 phenotypes. Broad expression in testis (RPKM 24.1), duodenum (RPKM 7.8) and 24 other tissues.

功能概要

该基因编码的蛋白质属于 Tudor 蛋白质家族。该蛋白质包含保守的 Tudor 结构域和 LOTUS 结构域。它是 RNA 颗粒的组成部分,在 RNA 加工中发挥作用。该基因的突变与小鼠和人类的白内障形成有关。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 11 月]

The protein encoded by this gene belongs to the Tudor family of proteins. This protein contains conserved Tudor domains and LOTUS domains. It is a component of RNA granules, which function in RNA processing. Mutations in this gene have been associated with cataract formation in mouse and human. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

TDRD7 基因产物(2)

mRNA Protein Name
NM_001302884.2 NP_001289813.1 tudor domain-containing protein 7 isoform 2
NM_014290.3 NP_055105.2 tudor domain-containing protein 7 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 mRNA binding IDA
IDA: 通过直接分析推断
21436445 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
14603251 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in lens fiber cell differentiation IMP
IMP: 通过突变表型推断
21436445 GOA
involved in lens morphogenesis in camera-type eye IMP
IMP: 通过突变表型推断
21436445 GOA
involved in post-transcriptional regulation of gene expression IMP
IMP: 通过突变表型推断
21436445 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in ribonucleoprotein granule IDA
IDA: 通过直接分析推断
21436445 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

TDRD7 蛋白结构

OST-HTH

OST-HTH: OST-HTH/LOTUS domain (8 - 69)

TUDOR

TUDOR: Tudor domain (460 - 581)

TUDOR

TUDOR: Tudor domain (649 - 774)

TUDOR

TUDOR: Tudor domain (909 - 1026)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1098 a.a.
蛋白主名 其他名称

tudor domain-containing protein 7

PCTAIRE2-binding protein

TDRD7 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
TDRD7 Q8NHU6 CDKN2A Homo sapiens P42771
Anti Tag CoIP
21988832
种属内
TDRD7 Q8NHU6 GABPB1 Homo sapiens Q06547
Y2H Prey Pooling
25416956
种属内
TDRD7 Q8NHU6 TACC1 Homo sapiens O75410-1
Anti Bait CoIP
14603251
种属内
TDRD7 Q8NHU6 TACC1 Homo sapiens O75410-1
Anti Tag CoIP
14603251
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
Cataract 36

CTRCT36

Catc4

Autosomal Recessive Congenital Cataract 4

Cataract, Autosomal Recessive Congenital 4

Cataract, Type 36

Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Deprivation Amblyopia

Disuse Amblyopia

Stimulus Deprivation Amblyopia

Deafness, Autosomal Dominant 5

DFNA5

Autosomal Dominant Nonsyndromic Deafness 5

Autosomal Dominant Deafness 5

Deafness, Autosomal Dominant, 5

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 5

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 5

Deafness, Autosomal Dominant, Type 5

Ayme-Gripp Syndrome

AYGRP

Cataracts, Congenital, With Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, And Mental Retardation

Aymé-Gripp Syndrome

Fine-Lubinsky Syndrome

Brachycephaly-Deafness-Cataract-Intellectual Disability Syndrome

Brachycephaly-Hearing Loss-Cataract-Intellectual Disability Syndrome

Differentiating Neuroblastoma
Juvenile Glaucoma

Glaucoma Of Childhood

Hydrophthalmos

Amblyopia

Lazy Eye

Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly

Anterior Segment Mesenchymal Dysgenesis

Corneal Opacification And Other Ocular Anomalies

Sclerocornea With Other Ocular Anomalies

Asmd

Asod

Anterior Segment Ocular Dysgenesis

Foxe3-Related Ocular Disorder

Familial Ocular Anterior Segment Mesenchymal Dysgenesis

Dysgenesis, Anterior Segment

Irido-Corneal Dysgenesis

Axenfeld-Rieger Syndrome, Type 3

Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism

Nanophthalmos

Nanophthalmia

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
Macaca mulatta TDRD7 VGNC VGNC:79886
Rattus norvegicus TDRD7 RGD RGD:619724
Bos taurus TDRD7 VGNC VGNC:35721
Mus musculus TDRD7 MGD MGI:2140279
Felis catus TDRD7 VGNC VGNC:66050
Canis familiaris TDRD7 VGNC VGNC:47225