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  2. HOXD11 - homeobox D11 Gene

HOXD11 - homeobox D11 Gene

中文名称:同源框 D11

种属: Homo sapiens

同用名: HOX4; HOX4F

基因 ID: 3237 | 基因类型: protein coding

关于 HOXD11

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:176,107,280-176,115,679 (from NCBI)

This gene has 2 transcripts (splice variants), 185 orthologues, 42 paralogues and is associated with 32 phenotypes. Biased expression in endometrium (RPKM 10.2), colon (RPKM 4.5) and 2 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 2 号染色体簇中的几个同源框 HOXD 基因之一。删除整个 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。小鼠 Hoxd11 基因的产物在前肢形态发生中发挥作用。[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 in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. The product of the mouse Hoxd11 gene plays a role in forelimb morphogenesis. [provided by RefSeq, Jul 2008]

HOXD11 基因产物(1)

mRNA Protein Name
NM_021192.3 NP_067015.2 homeobox protein Hox-D11
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

HOXD11 蛋白结构

DUF3528

DUF3528: Protein of unknown function (DUF3528) (26 - 189)

Homeobox

Homeobox: Homeobox domain (267 - 323)

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

homeobox protein Hox-D11

Hox-4.6, mouse, homolog of

关联疾病

疾病名称 别名
Synpolydactyly

Syndactyly Type 2

Syndactyly, Type 2

Spd

Syndactyly, Type V

Syndactyly Type 5

SDTY5

Syndactyly With Metacarpal And Metatarsal Fusion

Syndactyly With Associated Metacarpal And Metatarsal Fusion

Postaxial Syndactyly With Metacarpal Synostosis

Sd5

Syndactyly 5

Syndactyly Type V

Brachydactyly-Syndactyly Syndrome

BDSD

Brachydactyly-Syndactyly-Oligodactyly Syndrome

Brachydactyly-Syndactyly, Zhao Type

BDSDO

Small-Cell Carcinoma Of The Ovary Of Hypercalcemic Type

Hypercalcemic Type Ovarian Small Cell Carcinoma

Small Cell Carcinoma Of The Ovary, Hypercalcemic Type

Ovarian Small Cell Carcinoma, Hypercalcemic Type

Laurin-Sandrow Syndrome

Sandrow Syndrome

Tetramelic Mirror-Image Polydactyly

Mirror-Image Polydactyly

Mirror Hands And Feet With Nasal Defects

Tmip

LSS

Mip

Mirror Hands And Feets-Nasal Defects Syndrome

Fibula And Ulna, Duplication Of, With Absence Of Tibia And Radius

Miccor Hands And Feet With Nasal Defects

Mipduplication Of Fibuland Ulna With Absence Of Tibia And Radius

Fibula Ulna Duplication Tibia Radius Absence

Laurin Sandrow Syndrome

Duplication Of Fibula And Ulna With Absence Of Tibia And Radius

Segmental Laurin-Sandrow Syndrome

Laurin-Sandrow Syndrome, Segmental

Clubfoot

Congenital Talipes Equinovarus

Congenital Clubfoot

Congenital Equinovarus

Equinovarus Deformity Of Foot

Club Foot

Brachydactyly
Chromosome 2q35 Duplication Syndrome

Syndactyly

Syndactyly Type 1

Sdty1

Zygodactyly

Syndactyly, Type I

Sd1

Syndactyly, Type 1, With Or Without Craniosynostosis

Symphalangism

Non-Syndromic Syndactyly

Symphalangy

Webbing Of Digits

Syndactyly, Type 1

Cakut

Renal Or Urinary Tract Malformation

Congenital Anomalies Of Kidney And Urinary Tract

Congenital Anomaly Of Kidney And Urinary Tract

Congenital Anomalies Of The Kidney And Urinary Tract

Kidney And Urinary Tract, Anomalies, Congenital

Renal Hypodysplasia, Nonsyndromic, 1

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 HOXD11 MGD MGI:96203
Macaca mulatta HOXD11 VGNC VGNC:104537
Felis catus HOXD11 VGNC VGNC:67632
Rattus norvegicus HOXD11 RGD RGD:7730597
Canis familiaris HOXD11 VGNC VGNC:41763
Bos taurus HOXD11 VGNC VGNC:29931