1. Gene
  2. GSC - goosecoid homeobox Gene

GSC - goosecoid homeobox Gene

中文名称:鹅卵石同源盒

种属: Homo sapiens

同用名: SAMS

基因 ID: 145258 | 基因类型: protein coding

关于 GSC

Cytogenetic location: 14q32.13 Genomic coordinates (GRCh38): 14:94,768,223-94,770,113 (from NCBI)

This gene has 1 transcript (splice variant), 189 orthologues, 50 paralogues and is associated with 2 phenotypes. Biased expression in fat (RPKM 1.7), brain (RPKM 0.2) and 8 other tissues.

功能概要

该基因编码成对 (PRD) 同源盒蛋白家族的二元亚科成员。编码的蛋白质充当转录因子并且可以是自动调节的。小鼠中的一种类似蛋白质在胚胎发生过程中的颅面和肋骨发育中发挥作用。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the bicoid subfamily of the paired (PRD) homeobox family of proteins. The encoded protein acts as a transcription factor and may be autoregulatory. A similar protein in mice plays a role in craniofacial and rib cage development during embryogenesis. [provided by RefSeq, Jul 2008]

GSC 基因产物(1)

mRNA Protein Name
NM_173849.3 NP_776248.1 homeobox protein goosecoid
基因本体论
  • 分子功能
  • 生物过程
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
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in neural crest cell fate specification IMP
IMP: 通过突变表型推断
24290375 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

GSC 蛋白结构

Homeobox

Homeobox: Homeobox domain (161 - 217)

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

homeobox protein goosecoid

关联疾病

疾病名称 别名
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities

Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities

Short Stature-Auditory Canal Atresia-Mandibular Hypoplasia-Skeletal Anomalies Syndrome

SAMS

Sams Syndrome

Stature, Short, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities

Fraser Syndrome 1

Fraser Syndrome

Cryptophthalmos With Other Malformations

Cryptophthalmos Syndrome

FRASRS1

Cryptophthalmos-Syndactyly Syndrome

Fraser-Francois Syndrome

Cyclopism

Meyer-Schwickerath'S Syndrome

Ulrich-Feichtiger Syndrome

Cryptophthalmos Syndactyly Syndrome

Fraser'S Syndrome

Meyer-Schwickerath Syndrome

Ullrich-Feichtiger Syndrome

Synostosis
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 GSC MGD MGI:95841
Bos taurus GSC VGNC VGNC:29672
Canis familiaris GSC VGNC VGNC:41525
Felis catus GSC VGNC VGNC:104397
Macaca mulatta GSC VGNC VGNC:108303
Rattus norvegicus GSC RGD RGD:631425