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  2. HOXD10 - homeobox D10 Gene

HOXD10 - homeobox D10 Gene

中文名称:同源框 D10

种属: Homo sapiens

同用名: HOX4; HOX4D; HOX4E; Hox-4.4

基因 ID: 3236 | 基因类型: protein coding

关于 HOXD10

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:176,116,778-176,119,937 (from NCBI)

This gene has 3 transcripts (splice variants), 208 orthologues, 42 paralogues and is associated with 3 phenotypes. Biased expression in endometrium (RPKM 21.4), kidney (RPKM 9.2) and 4 other tissues.

功能概要

该基因是 Abd-B 同源框家族的成员,编码具有同源框 DNA 结合域的蛋白质。它包含在位于 2 号染色体上的同源框 D 基因簇中。编码的核蛋白作为序列特异性转录因子发挥作用,在发育中的肢芽中表达并参与分化和肢体发育。该基因的突变与 Wilm 肿瘤和先天性垂直距骨 (也称为“摇足底”畸形或先天性外翻足) 和/或类似于 Charcot-Marie-Tooth 病的足部畸形有关。[RefSeq 提供,2008 年 7 月]

This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence-specific transcription factor that is expressed in the developing limb buds and is involved in differentiation and limb development. Mutations in this gene have been associated with Wilm's tumor and congenital vertical talus (also known as "rocker-bottom foot" deformity or congenital convex pes valgus) and/or a foot deformity resembling that seen in Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008]

HOXD10 基因产物(1)

mRNA Protein Name
NM_002148.4 NP_002139.2 homeobox protein Hox-D10
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
28514442 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

HOXD10 蛋白结构

Homeobox

Homeobox: Homeobox domain (267 - 323)

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

homeobox protein Hox-D10

homeo box 4D

HOXD10 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
HOXD10 P28358 SERPINB4 Homo sapiens P48594 33961781
种属内
HOXD10 P28358 SERPINB4 Homo sapiens P48594 28514442
种属内
HOXD10 P28358 MPND Homo sapiens Q8N594 32814053
种属内
HOXD10 P28358 MPND Homo sapiens Q8N594 32814053
种属内
HOXD10 P28358 MPND Homo sapiens Q8N594 32814053
种属内
HOXD10 P28358 COPS3 Homo sapiens Q9UNS2 32814053
种属内
HOXD10 P28358 COPS3 Homo sapiens Q9UNS2 32814053
种属内
HOXD10 P28358 COPS3 Homo sapiens Q9UNS2 32814053
种属内
HOXD10 P28358 SKIC8 Homo sapiens Q9GZS3 32814053
种属内
HOXD10 P28358 SKIC8 Homo sapiens Q9GZS3 32814053
种属内
HOXD10 P28358 SKIC8 Homo sapiens Q9GZS3 32814053
种属内
HOXD10 P28358 RASSF1 Homo sapiens Q9NS23-4 32814053
种属内
HOXD10 P28358 RASSF1 Homo sapiens Q9NS23-4 32814053
种属内
HOXD10 P28358 RASSF1 Homo sapiens Q9NS23-4 32814053
种属内
HOXD10 P28358 PIAS1 Homo sapiens O75925 32814053
种属内
HOXD10 P28358 PIAS1 Homo sapiens O75925 32814053
种属内
HOXD10 P28358 PIAS1 Homo sapiens O75925 32814053
种属内
HOXD10 P28358 RNF183 Homo sapiens Q96D59 32814053
种属内
HOXD10 P28358 RNF183 Homo sapiens Q96D59 32814053
种属内
HOXD10 P28358 RNF183 Homo sapiens Q96D59 32814053
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
Vertical Talus, Congenital

Congenital Vertical Talus

CVT

Congenital Convex Pes Valgus

Rocker-Bottom Foot Deformity

Vertical Talus

Pes Valgus, Congenital Convex

Congenital Convex Foot

Congenital Rocker-Bottom Foot

Rocker Bottom Foot

Flatfoot

Rocker-Bottom Foot

Charcot-Marie-Tooth Disease, Foot Deformity Of

Congenital Vertical Talus, Unilateral
Congenital Vertical Talus, Bilateral
Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies

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

Clubfoot

Congenital Talipes Equinovarus

Congenital Clubfoot

Congenital Equinovarus

Equinovarus Deformity Of Foot

Club Foot

Tooth Disease

Tooth Diseases

Teeth Disease

Tooth Disorders

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
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

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
Felis catus HOXD10 VGNC VGNC:67631
Mus musculus HOXD10 MGD MGI:96202
Canis familiaris HOXD10 VGNC VGNC:41762
Macaca mulatta HOXD10 VGNC VGNC:99368
Rattus norvegicus HOXD10 RGD RGD:1306511
Bos taurus HOXD10 VGNC VGNC:29930