HOXD12 - homeobox D12 Gene

中文名称：同源框 D12

种属: Homo sapiens

同用名: HOX4H

基因 ID: 3238 | 基因类型: protein coding

关于 HOXD12

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:176,099,795-176,102,489 (from NCBI)

This gene has 2 transcripts (splice variants), 189 orthologues and 42 paralogues. Low expression observed in reference dataset.

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。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 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 exact role of this gene has not been determined. [provided by RefSeq, Jul 2008]

HOXD12 基因产物(1)

mRNA	Protein	Name
NM_021193.4	NP_067016.3	homeobox protein Hox-D12

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 protein binding	IPI IPI: 通过物理相互作用推断	25416956	GOA
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

HOXD12 蛋白结构

Homeobox

0
100
200
270 a.a.

蛋白主名

其他名称

homeobox protein Hox-D12

Hox-4.7, mouse, homolog of

HOXD12 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	HOXD12	P35452	TRAF1	Homo sapiens	Q13077	Y2H Prey Pooling	25416956

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

Synpolydactyly

Syndactyly Type 2	Syndactyly, Type 2
Spd

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

Syndactyly, Type Iv

Syndactyly Type 4	Polysyndactyly, Haas Type
SDTY4	Haas Type Syndactyly
Sd4	Polysyndactyly Type Haas
Syndactyly 4	Polysyndactyly Haas Type
Syndactyly Type Iv

Clubfoot

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

Tibia, Hypoplasia Or Aplasia Of, With Polydactyly

Hypoplastic Or Aplastic Tibia With Polydactyly	Absence Of Tibia With Polydactyly
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	THYP
Tibial Hemimelia-Polydactyly-Triphalangeal Thumbs With Fibular Dimelia	Absent Tibia-Polydactyly Syndrome
Werner Mesomelic Syndrome	Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Polydactyly With Absent Tibia	Werner Mesomelic Spectrum
Hypoplasia Or Aplasia Of Tibia With Polydactyly	Wms
Tibia, Hypoplasia Of, With Polydactyly

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

Hand-Foot-Genital Syndrome

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

Metacarpal 4-5 Fusion

Syndactyly Type 8	MF4
Fusion Of Metacarpals 4 And 5	Metacarpals 4 And 5 Fusion
Metacarpal 4 5 Fusion

Brachydactyly

Brachydactyly, Type E1

Brachydactyly Type E1	Brachydactyly Type E
BDE1	Brachydactyly, Type E
Bde	Type E Brachydactyly
Brachydactyly E1	Brachydactyly Syndrome Type E

Brachydactyly, Type D

Brachydactyly Type D	BDD
Stub Thumb	Brachydactyly D

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-RS06325	HOXD12 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	HOXD12	MGD	MGI:96204
Canis familiaris	HOXD12	VGNC	VGNC:41764
Felis catus	HOXD12	VGNC	VGNC:107558
Rattus norvegicus	HOXD12	RGD	RGD:1309797
Bos taurus	HOXD12	VGNC	VGNC:29932
Macaca mulatta	HOXD12	VGNC	VGNC:73508

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