1. Gene
  2. DMRT2 - doublesex and mab-3 related transcription factor 2 Gene

DMRT2 - doublesex and mab-3 related transcription factor 2 Gene

中文名称:双性和 mab-3 相关转录因子 2

种属: Homo sapiens

同用名: DSXL-2

基因 ID: 10655 | 基因类型: protein coding

关于 DMRT2

Cytogenetic location: 9p24.3 Genomic coordinates (GRCh38): 9:1,050,357-1,057,552 (from NCBI)

This gene has 9 transcripts (splice variants), 210 orthologues and 8 paralogues. Biased expression in kidney (RPKM 4.2), fat (RPKM 1.8) and 2 other tissues.

功能概要

该基因编码的蛋白质属于 DMRT 基因家族,与果蝇“doublesex” (dsx) 和秀丽隐杆线虫 mab3 共享一个 DM DNA 结合域,这些基因参与这些生物体的性别决定。此外,该基因位于与性腺发育不全和 XY 性反转相关的人类基因组区域 (染色体 9p24.3) 。因此,该基因是第 9 位性别决定基因的候选基因之一。[RefSeq 提供,2010 年 4 月]

The protein encoded by this gene belongs to the DMRT gene family, sharing a DM DNA-binding domain with Drosophila 'doublesex' (dsx) and C. elegans mab3, genes involved in sex determination in these organisms. Also, this gene is located in a region of the human genome (chromosome 9p24.3) associated with gonadal dysgenesis and XY sex reversal. Hence this gene is one of the candidates for sex-determining gene(s) on chr 9. [provided by RefSeq, Apr 2010]

DMRT2 基因产物(10)

mRNA Protein Name
NM_001130865.3 NP_001124337.1 doublesex- and mab-3-related transcription factor 2 isoform 1
NM_001370531.1 NP_001357460.1 doublesex- and mab-3-related transcription factor 2 isoform 1
NM_001370532.1 NP_001357461.1 doublesex- and mab-3-related transcription factor 2 isoform 3
NM_001370533.1 NP_001357462.1 doublesex- and mab-3-related transcription factor 2 isoform 1
NM_001387557.1 NP_001374486.1 doublesex- and mab-3-related transcription factor 2 isoform 1
NM_001387558.1 NP_001374487.1 doublesex- and mab-3-related transcription factor 2 isoform 2
NM_001387559.1 NP_001374488.1 doublesex- and mab-3-related transcription factor 2 isoform 2
NM_001387560.1 NP_001374489.1 doublesex- and mab-3-related transcription factor 2 isoform 4
NM_006557.7 NP_006548.1 doublesex- and mab-3-related transcription factor 2 isoform 1
NM_181872.6 NP_870987.2 doublesex- and mab-3-related transcription factor 2 isoform 2
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
32296183 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

DMRT2 蛋白结构

DM

DM: DM DNA binding domain (119 - 165)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 561 a.a.
蛋白主名 其他名称

doublesex- and mab-3-related transcription factor 2

doublesex-like 2 protein

DMRT2 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
DMRT2 Q9Y5R5 TLE5 Homo sapiens Q08117-2 32296183
种属内
DMRT2 Q9Y5R5 TLE5 Homo sapiens Q08117-2 32296183
种属内
DMRT2 Q9Y5R5 MAGED1 Homo sapiens Q9Y5V3 32296183
种属内
DMRT2 Q9Y5R5 MAGED1 Homo sapiens Q9Y5V3 32296183
种属内
DMRT2 Q9Y5R5 MAGED1 Homo sapiens Q9Y5V3 32296183
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
Ovarian Gonadoblastoma
Gonadal Dysgenesis

Gonadal Dysgenesis Syndrome

Turner Syndrome

Hermaphroditism
Chromosome 9p Deletion Syndrome

Monosomy 9p

Monosomy 9p Syndrome

Alfi Syndrome

9p Syndrome

Chromosome 9p Deletion

9p Deletion

9p Monosomy

Deletion 9p

Partial Monosomy 9p

9p Deletion Syndrome

9p- Syndrome

Alfi'S Syndrome

Chromosome 9, Partial Trisomy 9p

46,Xy Sex Reversal

Swyer Syndrome

Pure Gonadal Dysgenesis 46,Xy

Gonadal Dysgenesis, Xy Female Type

Gonadal Dysgenesis, 46,Xy

46,Xy Cgd

46,Xy Complete Gonadal Dysgenesis

46,Xy Pure Gonadal Dysgenesis

46 Xy Gonadal Dysgenesis

46, Xy Cgd

46, Xy Complete Gonadal Dysgenesis

46, Xy Pure Gonadal Dysgenesis

Xy Pure Gonadal Dysgenesis

Female With 46,Xy Karyotype

Xy Females

Spondylocostal Dysostosis

Jarcho-Levin Syndrome

Costovertebral Dysplasia

Spondylothoracic Dysostosis

Spondylothoracic Dysplasia

Scdo

Dysostosis, Spondylocostal

Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome

Wagr Syndrome

11p Partial Monosomy Syndrome

Chromosome 11p13 Deletion Syndrome

Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome

11p Deletion Syndrome

Chromosome 11p Deletion Syndrome

Wagr Complex

Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome

Deletion 11p13

WAGR

Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome

Chromosome 11p Deletion

11p Deletion

11p Monosomy

Deletion 11p

Monosomy 11p

Partial Monosomy 11p

Agr Triad

Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome

Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome

Wagr Contiguous Gene Syndrome

Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome

Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome

Del(11)(P13)

Monosomy 11p13

Chromosome 11, Deletion 11p

Spermatocytoma

Spermatocytic Seminoma

Disorder Of Sexual Development

Disorder Of Sex Development

Disorders Of Sex Development

Sex Development Disorder

Sex Differentiation Disease

Dsd

Sex Differentiation Disorders

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
Rattus norvegicus DMRT2 RGD RGD:1309047
Canis familiaris DMRT2 VGNC VGNC:56916
Macaca mulatta DMRT2 VGNC VGNC:71934
Mus musculus DMRT2 MGD MGI:1330307
Felis catus DMRT2 VGNC VGNC:61529
Bos taurus DMRT2 VGNC VGNC:28111