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  2. HOXD3 - homeobox D3 Gene

HOXD3 - homeobox D3 Gene

中文名称:同源框 D3

种属: Homo sapiens

同用名: HOX4; HOX1D; HOX4A; Hox-4.1

基因 ID: 3232 | 基因类型: protein coding

关于 HOXD3

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:176,152,529-176,173,098 (from NCBI)

This gene has 5 transcripts (splice variants), 193 orthologues and 42 paralogues. Biased expression in kidney (RPKM 1.9), endometrium (RPKM 1.4) and 11 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。该基因编码的蛋白质可能在细胞粘附过程的调节中发挥作用。[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 the regulation of cell adhesion processes. [provided by RefSeq, Jul 2008]

HOXD3 基因产物(1)

mRNA Protein Name
NM_006898.5 NP_008829.3 homeobox protein Hox-D3
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 DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
14610084 GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
7913891 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
23088713 GOA
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 DNA-templated transcription IMP
IMP: 通过突变表型推断
12836255 GOA
involved in Notch signaling pathway IMP
IMP: 通过突变表型推断
12836255 GOA
involved in cell-matrix adhesion IDA
IDA: 通过直接分析推断
7742539 GOA
involved in positive regulation of gene expression IMP
IMP: 通过突变表型推断
12836255 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
14610084 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

HOXD3 蛋白结构

Homeobox

Homeobox: Homeobox domain (195 - 251)

DUF4074

DUF4074: Domain of unknown function (DUF4074) (368 - 430)

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

homeobox protein Hox-D3

Hox-4.1, mouse, homolog of

HOXD3 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 HOXD3 P31249 NFKBID Homo sapiens Q8NI38
Validated Y2H
32296183
Intra HOXD3 P31249 IGFN1 Homo sapiens Q86VF2-5
Validated Y2H
32296183
Intra HOXD3 P31249 HOXC8 Homo sapiens P31273
Validated Y2H
32296183
Intra HOXD3 P31249 SMARCD1 Homo sapiens Q96GM5
Validated Y2H
32296183
Cross HOXD3 P31249 Hoxa1 Mus musculus P09022
Pull Down
23088713
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
Duane Retraction Syndrome

Stilling-Turk-Duane Syndrome

Duane'S Syndrome

Duane Syndrome

Isolated Duane Retraction Syndrome

Co-Contractive Retraction Syndrome

Duane Anomaly, Isolated

Ocular Retraction Syndrome

Drs

Durs

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 HOXD3 VGNC VGNC:29933
Canis familiaris HOXD3 VGNC VGNC:41765
Macaca mulatta HOXD3 VGNC VGNC:104538
Felis catus HOXD3 VGNC VGNC:67634
Mus musculus HOXD3 MGD MGI:96207
Rattus norvegicus HOXD3 RGD RGD:1588601