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  2. TNMD - tenomodulin Gene

TNMD - tenomodulin Gene

中文名称:肌腱调节素

种属: Homo sapiens

同用名: TEM; CHM1L; BRICD4

基因 ID: 64102 | 基因类型: protein coding

关于 TNMD

Cytogenetic location: Xq22.1 Genomic coordinates (GRCh38): X:100,584,936-100,599,885 (from NCBI)

This gene has 2 transcripts (splice variants), 200 orthologues and 1 paralogue. Biased expression in fat (RPKM 8.0), placenta (RPKM 1.2) and 2 other tissues.

功能概要

该基因编码一种与软骨调节素-I 相关的蛋白质,软骨调节素-I 是一种软骨特异性糖蛋白,具有刺激软骨细胞生长和抑制内皮细胞管形成的作用。这种蛋白质也是一种血管生成抑制剂。该基因的遗传变异以体型依赖的方式与 2 型糖尿病、中心性肥胖和全身免疫介质血清水平的风险相关。该基因也是与年龄相关的黄斑变性的候选基因,但其直接联系尚未得到证实。[RefSeq 提供,2009 年 9 月]

This gene encodes a protein that is related to chondromodulin-I, which is a cartilage-specific glycoprotein that functions to stimulate chondrocyte growth and to inhibit tube formation of endothelial cells. This protein is also an angiogenesis inhibitor. Genetic variation in this gene is associated with a risk for type 2 diabetes, central obesity and serum levels of systemic immune mediators in a body size-dependent manner. This gene is also a candidate gene for age-related macular degeneration, though a direct link has yet to be demonstrated. [provided by RefSeq, Sep 2009]

TNMD 基因产物(1)

mRNA Protein Name
NM_022144.3 NP_071427.2 tenomodulin
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

TNMD 蛋白结构

BRICHOS

BRICHOS: BRICHOS domain (94 - 186)

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

tenomodulin

BRICHOS domain containing 4

TNMD 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
Intra TNMD Q9H2S6 TMEM79 Homo sapiens Q9BSE2
Y2H Array
25416956
Intra TNMD Q9H2S6 TMEM79 Homo sapiens Q9BSE2
Y2H Array
31515488
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
Epicondylitis

Tennis Elbow

Lateral Epicondylitis

Golfer'S Elbow

Medial Epicondylitis

Andrel Epicondylitis

Archer'S Elbow

Hockey Elbow

Shooter'S Elbow

Tendinitis

Tendinopathy

Trichothiodystrophy 6, Nonphotosensitive

TTD6

Nonphotosensitive Trichothiodystrophy 6

Trichothiodystrophy 6, Non-Photosensitive

Nonphotosensitive Trichothiodystrophy

Trichothiodystrophy Nonphotosensitive

Amish Brittle Hair Brain Syndrome

Shoulder Impingement Syndrome

Impingement Syndrome Of Shoulder Region

Subacromial Impingement

Developmental And Epileptic Encephalopathy 9

Efmr

Epileptic Encephalopathy, Early Infantile, 9

Eiee9

DEE9

Juberg-Hellman Syndrome

Epilepsy, Female-Restricted, With Mental Retardation

Developmental And Epileptic Encephalopathy, 9

Early Infantile Epileptic Encephalopathy 9

Early Infantile Female-Limited Epilecptic Encephalopathy

Female Restricted Epilepsy With Mental Retardation

Juberg Hellman Syndrome

Pcdh19-Related Female-Limited Epilepsy

Epilepsy And Intellectual Disability Limited To Females

Epilepsy, Female Restricted, With Intellectual Disability

Familial Epilepsy And Intellectual Disability Limited To Females

Female Restricted Epilepsy With Intellectual Delays

Pcdh19-Related Fle

Pcdh19-Related Infantile Epileptic Encephalopathy

Female Restricted Epilepsy With Intellectual Disability

Encephalopathy, Epileptic, Early Infantile, Type 9

Bursitis

Bursitis, Not Otherwise Specified

Inflammation Of Bursa

De Quervain Disease

Radial Styloid Tenosynovitis

Tenosynovitis, De Quervain'S

De Quervain'S Disease

Tenosynovitis Of Radial Styloid Process

Stenosans Tenosynovitis

Calcific Tendinitis

Calcific Tendinitis Nos

Sclerocornea

Isolated Congenital Sclerocornea

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
Bos taurus TNMD VGNC VGNC:36187
Canis familiaris TNMD VGNC VGNC:47684
Macaca mulatta TNMD VGNC VGNC:79087
Mus musculus TNMD MGD MGI:1929885
Rattus norvegicus TNMD RGD RGD:620938