HOXD9 - homeobox D9 Gene

中文名称：同源框 D9

种属: Homo sapiens

同用名: HOX4; HOX4C; Hox-4.3; Hox-5.2

基因 ID: 3235 | 基因类型: protein coding

关于 HOXD9

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:176,122,719-176,124,937 (from NCBI)

This gene has 1 transcript (splice variant), 201 orthologues and 42 paralogues. Biased expression in endometrium (RPKM 16.0), kidney (RPKM 11.1) and 10 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。该基因的确切作用尚未确定。[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 exact role of this gene has not been determined. [provided by RefSeq, Jul 2008]

HOXD9 基因产物(1)

mRNA	Protein	Name
NM_014213.4	NP_055028.3	homeobox protein Hox-D9

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 repressor activity, RNA polymerase II-specific	IDA IDA: 通过直接分析推断	1756725	GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA IDA: 通过直接分析推断	1756725	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 negative 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

HOXD9 蛋白结构

Hox9_act

Homeobox

0
100
200
300
352 a.a.

蛋白主名

其他名称

homeobox protein Hox-D9

Hox-4.3, mouse, homolog of

关联疾病

疾病名称

别名

Synpolydactyly

Syndactyly Type 2	Syndactyly, Type 2
Spd

Ovarian Serous Cystadenofibroma

Ovarian Serous Adenofibroma

Brachydactyly-Syndactyly Syndrome

BDSD	Brachydactyly-Syndactyly-Oligodactyly Syndrome
Brachydactyly-Syndactyly, Zhao Type	BDSDO

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

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

Brachydactyly

Hand-Foot-Genital Syndrome

Hand-Foot-Uterus Syndrome	Hfgs
Hfg Syndrome	Hfu Syndrome
HFG	Hfu
Hand Foot Uterus Syndrome	Hand Foot Genital Syndrome

Clubfoot

Congenital Talipes Equinovarus	Congenital Clubfoot
Congenital Equinovarus	Equinovarus Deformity Of Foot
Club Foot

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

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS06330	HOXD9 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	HOXD9	VGNC	VGNC:99370
Rattus norvegicus	HOXD9	RGD	RGD:1582908
Felis catus	HOXD9	VGNC	VGNC:80233
Mus musculus	HOXD9	MGD	MGI:96210
Bos taurus	HOXD9	VGNC	VGNC:29934

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