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  2. TBATA - thymus, brain and testes associated Gene

TBATA - thymus, brain and testes associated Gene

中文名称:胸腺、大脑和睾丸相关

种属: Homo sapiens

同用名: SPATIAL; C10orf27

基因 ID: 219793 | 基因类型: protein coding

关于 TBATA

Cytogenetic location: 10q22.1 Genomic coordinates (GRCh38): 10:70,771,238-70,785,377 (from NCBI)

This gene has 10 transcripts (splice variants) and 142 orthologues. Restricted expression toward testis (RPKM 6.9).

功能概要

该基因编码一种调节胸腺上皮细胞增殖和胸腺大小的蛋白质。它已被鉴定为胸腺中 I 类人类白细胞抗原 (HLA-I) 的配体。对直系同源小鼠蛋白的研究表明,它也可能在精子细胞分化以及神经元形态发生和突触可塑性中发挥作用。该基因的多态性与多发性硬化症 (MS) 的易感性相关。可变剪接导致多个转录本变体。[RefSeq 提供,2015 年 12 月]

This gene encodes a protein that regulates thymic epithelial cell proliferation and thymus size. It has been identified as a ligand for the class I human leukocyte antigen (HLA-I) in thymus. Studies of the orthologous mouse protein suggest that it may also play a role in spermatid differentiation, as well as in neuronal morphogenesis and synaptic plasticity. Polymorphisms in this gene are associated with susceptibility for multiple sclerosis (MS). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

TBATA 基因产物(4)

mRNA Protein Name
NM_001318241.2 NP_001305170.1 protein TBATA isoform a
NM_001318242.2 NP_001305171.1 protein TBATA isoform b
NM_001318243.2 NP_001305172.1 protein TBATA isoform c
NM_152710.4 NP_689923.3 protein TBATA isoform b
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
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in ciliary basal body IDA
IDA: 通过直接分析推断
29257953 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

TBATA 蛋白结构

SPATIAL

SPATIAL: SPATIAL (77 - 271)

  • 0
  • 100
  • 200
  • 300
  • 351 a.a.
蛋白主名 其他名称

protein TBATA

stromal protein associated with thymii and lymph node homolog

关联疾病

疾病名称 别名
Monofixation Syndrome
Hirschsprung Disease 1

Hirschsprung Disease

Aganglionic Megacolon

Hscr

Hirschsprung'S Disease

Congenital Megacolon

Congenital Intestinal Aganglionosis

Colonic Aganglionosis

Hirschsprung Disease, Susceptibility To, 1

Hirschsprung Disease, Protection Against

HSCR1

Mgc

Pelvirectal Achalasia

Total Intestinal Aganglionosis

Megacolon, Aganglionic

Macrocolon

Hscr 1

Hirschsprung Disease Type 1

Hirschsprung Disease, Type 1

Congenital Dilatation Of Colon

Aganglionosis

Congenital Aganglionic Megacolon

Aganglionosis Of Colon

Bowel Aganglionosis

Colon Aganglionosis

Hirschsprung Megacolon

Janus Kinase-3 Deficiency
Multiple Sclerosis

MS

Multiple Sclerosis, Susceptibility To

Disseminated Sclerosis

Multiple Sclerosis, Disease Progression, Modifier Of

Insular Sclerosis

Multiple Sclerosis Modifier Of Disease Progression

Multiple Sclerosis, Susceptibility To 1

Multiple Sclerosis, Susceptibility To, 1

Multiple Sclerosis 1

Generalized Multiple Sclerosis

Multiple Sclerosis Variant

Multiple Sclerosis Susceptibility To

Cerebrospinal Sclerosis

Generalised Multiple Sclerosis

Ms - [Multiple Sclerosis]

Disseminated Cerebrospinal Sclerosis

Disseminated Multiple Sclerosis

Disseminated Nervous System Myelosclerosis

Multiple Cerebrospinal Sclerosis

Multiple Combined Sclerosis

Multiple Sclerosis Generalised

Disseminated Brain Sclerosis

Disseminated Spinal Sclerosis

Insular Brain Sclerosis

Miliary Brain Sclerosis

Multiple Combined Sclerosis Of Spinal Cord

Multiple Ascending Sclerosis

Multiple Brain Sclerosis

Multiple Sclerosis Of Brain Stem

Multiple Sclerosis Of The Brain Stem

Multiple Sclerosis Of Cord

Sclérose En Plaques

Plaque Sclerosis

Multiple Sclerosis Of The Spinal Cord

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Berdon Syndrome

MMIHS

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Megacystis, Microcolon, Hypoperistalsis Syndrome

Visceral Myopathy

Mmih Syndrome

Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome

MMIHS1

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Mmih

Mmhs

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 TBATA MGD MGI:1923820
Macaca mulatta TBATA VGNC VGNC:78198
Felis catus TBATA VGNC VGNC:65968
Rattus norvegicus TBATA RGD RGD:1561665
Canis familiaris TBATA VGNC VGNC:47128
Bos taurus TBATA VGNC VGNC:35622