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  2. HOXB8 - homeobox B8 Gene

HOXB8 - homeobox B8 Gene

中文名称:同源框 B8

种属: Homo sapiens

同用名: HOX2; HOX2D; Hox-2.4

基因 ID: 3218 | 基因类型: protein coding

关于 HOXB8

Cytogenetic location: 17q21.32 Genomic coordinates (GRCh38): 17:48,612,346-48,615,292 (from NCBI)

This gene has 3 transcripts (splice variants), 204 orthologues and 42 paralogues. Biased expression in kidney (RPKM 4.3), colon (RPKM 4.2) and 7 other tissues.

功能概要

该基因是 Antp 同源框家族的成员,编码具有同源框 DNA 结合域的核蛋白。它包含在位于 17 号染色体上的同源框 B 基因簇中。编码的蛋白质作为参与发育的序列特异性转录因子发挥作用。该基因表达增加与结直肠癌有关。敲除该基因的小鼠直系同源物的小鼠表现出过度的病态梳理行为。这种行为类似于患有强迫症拔毛癖的人类的行为。[RefSeq 提供,2008 年 7 月]

This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with colorectal Cancer. Mice that have had the murine ortholog of this gene knocked out exhibit an excessive pathologic grooming behavior. This behavior is similar to the behavior of humans suffering from the obsessive-compulsive spectrum disorder trichotillomania. [provided by RefSeq, Jul 2008]

HOXB8 基因产物(1)

mRNA Protein Name
NM_024016.4 NP_076921.1 homeobox protein Hox-B8
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

HOXB8 蛋白结构

Homeobox

Homeobox: Homeobox domain (147 - 203)

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

homeobox protein Hox-B8

homeo box 2D

关联疾病

疾病名称 别名
Trichotillomania

TTM

Hair-Pulling Syndrome

Compulsive Hair Plucking

Hair Pulling Disorder

Impulse Control Disorder

Disruptive, Impulse Control, And Conduct Disorders

Fragile X Syndrome

FXS

Martin-Bell Syndrome

Fraxa Syndrome

Marker X Syndrome

X-Linked Mental Retardation And Macroorchidism

Fragile X Mental Retardation Syndrome

Fra Syndrome

Mental Retardation, X-Linked, Associated With Marxq28

X-Linked Intellectual Disability And Macroorchidism

Frax Syndrome

Symptomatic Form Of Fragile X Syndrome In Female Carriers

Fragile-X Syndrome

Fraxe Syndrome

Body Dysmorphic Disorder

Dysmorphophobia

Body Dysmorphia

Dysmorphic Syndrome

Body Dysmorphic Disorders

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

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 HOXB8 VGNC VGNC:99082
Rattus norvegicus HOXB8 RGD RGD:1586211
Macaca mulatta HOXB8 VGNC VGNC:73505
Bos taurus HOXB8 VGNC VGNC:106771
Mus musculus HOXB8 MGD MGI:96189
Canis familiaris HOXB8 VGNC VGNC:41754