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  2. HOXD4 - homeobox D4 Gene

HOXD4 - homeobox D4 Gene

中文名称:同源框 D4

种属: Homo sapiens

同用名: HOX4; HOX4B; HHO.C13; HOX-5.1; Hox-4.2

基因 ID: 3233 | 基因类型: protein coding

关于 HOXD4

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:176,151,550-176,153,226 (from NCBI)

This gene has 1 transcript (splice variant), 204 orthologues and 42 paralogues. Biased expression in endometrium (RPKM 14.5), kidney (RPKM 10.9) and 13 other tissues.

功能概要

该基因属于同源盒基因家族。同源框基因编码一个高度保守的转录因子家族,在所有多细胞生物的形态发生中起着重要作用。哺乳动物拥有 4 个相似的同源盒基因簇 HOXA、HOXB、HOXC 和 HOXD,分别位于不同的染色体上,由 9~11 个串联排列的基因组成。该基因是位于 2q31-2q37 染色体区域的几个同源框 HOXD 基因之一。移除整个 HOXD 基因簇或该簇 5' 端的缺失与严重的肢体和生殖器异常有关。由该基因编码的蛋白质可能在决定肢芽发育过程中的位置值方面发挥作用。已经描述了选择性剪接变体,但尚未确定其全长性质。[RefSeq 提供,2008 年 7 月]

This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in determining positional values in developing limb buds. Alternatively spliced variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]

HOXD4 基因产物(1)

mRNA Protein Name
NM_014621.3 NP_055436.2 homeobox protein Hox-D4
基因本体论
  • 分子功能
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in embryonic organ development IEP
IEP: 通过表达模式推断
2879245 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
1756725 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

HOXD4 蛋白结构

Homeobox

Homeobox: Homeobox domain (155 - 211)

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

homeobox protein Hox-D4

Hox-4.2, mouse, homolog of homeo box X

HOXD4 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
HOXD4 P09016 PBX4 Homo sapiens Q9BYU1 32296183
种属内
HOXD4 P09016 FANCL Homo sapiens Q9NW38 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
Rhizomelic Chondrodysplasia Punctata, Type 3

Rhizomelic Chondrodysplasia Punctata Type 3

RCDP3

Alkyldihydroxyacetonephosphate Synthase Deficiency

Alkylglycerone-Phosphate Synthase Deficiency

Agps Deficiency

Rhizomelic Chondrodysplasia Punctata 3

Chondrodysplasia Punctata, Rhizomelic, Type 3

Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias

Guttmacher Syndrome

Preaxial Deficiency, Postaxial Polydactyly And Hypospadias

Autosomal Dominant Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias

Preaxial Deficiency-Postaxial Polydactyly-Hypospadias Syndrome

GUTTS

Synpolydactyly

Syndactyly Type 2

Syndactyly, Type 2

Spd

Clubfoot

Congenital Talipes Equinovarus

Congenital Clubfoot

Congenital Equinovarus

Equinovarus Deformity Of Foot

Club Foot

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 HOXD4 VGNC VGNC:97278
Felis catus HOXD4 VGNC VGNC:107559
Rattus norvegicus HOXD4 RGD RGD:1309690
Mus musculus HOXD4 MGD MGI:96208