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  2. SOX12 - SRY-box transcription factor 12 Gene

SOX12 - SRY-box transcription factor 12 Gene

中文名称:SRY-box 转录因子 12

种属: Homo sapiens

同用名: SOX22

基因 ID: 6666 | 基因类型: protein coding

关于 SOX12

Cytogenetic location: 20p13 Genomic coordinates (GRCh38): 20:325,552-330,224 (from NCBI)

This gene has 1 transcript (splice variant), 265 orthologues and 20 paralogues.

功能概要

SOX 转录因子家族成员的特征是存在一个 DNA 结合高迁移率基团 (HMG) 结构域,与性别决定区 Y (SRY) 的 HMG 盒同源。作为 HMG 结构域超家族的一个亚组,SOX 蛋白与多种发育过程中的细胞命运决定有关。 SOX 转录因子在早期发育过程中具有多种组织特异性表达模式,并已被提议用作靶标特异性转录因子和/或染色质结构调控元件。由该基因编码的蛋白质基于保守结构域被鉴定为 SOX 家族成员,其在各种组织中的表达表明在多种细胞类型的分化和维持中发挥作用。[RefSeq 提供,2013 年 1 月]

Members of the SOX family of transcription factors are characterized by the presence of a DNA-binding high mobility group (HMG) domain, homologous to the HMG box of sex-determining region Y (SRY). Forming a subgroup of the HMG domain superfamily, SOX proteins have been implicated in cell fate decisions in a diverse range of developmental processes. SOX transcription factors have diverse tissue-specific expression patterns during early development and have been proposed to act as target-specific transcription factors and/or as chromatin structure regulatory elements. The protein encoded by this gene was identified as a SOX family member based on conserved domains, and its expression in various tissues suggests a role in both differentiation and maintenance of several cell types. [provided by RefSeq, Jan 2013]

SOX12 基因产物(1)

mRNA Protein Name
NM_006943.4 NP_008874.2 transcription factor SOX-12
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 sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 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

SOX12 蛋白结构

HMG_box

HMG_box: HMG (high mobility group) box (40 - 108)

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

transcription factor SOX-12

SOX-22 protein

关联疾病

疾病名称 别名
Acromesomelic Dysplasia 2a

Chondrodysplasia, Grebe Type

Acromesomelic Dysplasia, Grebe Type

Grebe Chondrodysplasia

Amdg

Grebe Syndrome

AMD2A

Grebe Dysplasia

Achondrogenesis, Brazilian

Achondrogenesis, Type Ii, Formerly

Acromesomelic Dysplasia-2a

Achondrogenesis Type Ii

Brazilian Achondrogenesis

Acromesomelic Chondrodysplasia, Grebe Type

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 SOX12 MGD MGI:98360
Canis familiaris SOX12 VGNC VGNC:46673
Rattus norvegicus SOX12 RGD RGD:1586313
Bos taurus SOX12 VGNC VGNC:106945