SHOX2 - short stature homeobox 2 Gene

中文名称：身材矮小的同源盒 2

种属: Homo sapiens

同用名: OG12; SHOT; OG12X

基因 ID: 6474 | 基因类型: protein coding

关于 SHOX2

Cytogenetic location: 3q25.32 Genomic coordinates (GRCh38): 3:158,095,905-158,106,420 (from NCBI)

This gene has 5 transcripts (splice variants), 195 orthologues and 50 paralogues. Biased expression in fat (RPKM 3.0), lymph node (RPKM 1.2) and 4 other tissues.

功能概要

该基因是同源盒基因家族的成员，该基因编码的蛋白质含有代表 DNA 结合域的 60 个氨基酸残基基序。同源框基因已被广泛描述为参与无脊椎动物和脊椎动物物种模式形成的转录调节因子。几种人类遗传疾病是由人类同源盒基因的畸变引起的。该基因座代表假常染色体同源盒基因，该基因被认为与特发性身材矮小有关，并且与特纳综合征患者的身材矮小表型有关。该基因被认为是 Cornelia de Lange 综合征的候选基因。可变剪接导致多个转录本变体。[RefSeq 提供，2009 年 7 月]

This gene is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeobox genes have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species. Several human genetic disorders are caused by aberrations in human homeobox genes. This locus represents a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature, and it is implicated in the short stature phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]

SHOX2 基因产物(3)

mRNA	Protein	Name
NM_001163678.2	NP_001157150.1	short stature homeobox protein 2 isoform c
NM_003030.4	NP_003021.3	short stature homeobox protein 2 isoform b
NM_006884.3	NP_006875.2	short stature homeobox protein 2 isoform a

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	32814053	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

SHOX2 蛋白结构

Homeobox

OAR

0
100
190 a.a.

蛋白主名

其他名称

short stature homeobox protein 2

SHOX homologous gene on chromosome 3

关联疾病

疾病名称

别名

Turner Syndrome

Monosomy X	Gonadal Dysgenesis Turner Type
Ullrich-Turner Syndrome	Bonnevie-Ullrich Syndrome
Karyotype 45, X	Genital Dwarfism, Turner Type
Gonadal Dysgenesis	45,X
Turner'S Syndrome	Gonadal Dysgenesis - Turner
Monosomy X Syndrome	Xo Syndrome
Genital Dwarfism	45, X Syndrome
Bonnevie-Ulrich Syndrome	Chromosome X Monosomy X
Schereshevkii Turner Syndrome	Turner Varny Syndrome
Ts	45,X Syndrome
45,X/46,Xx Syndrome	Turners Syndrome
Gonadal Dysgenesis, 45,X	X0 Syndrome

Cornelia De Lange Syndrome

De Lange Syndrome	Brachmann De Lange Syndrome
Brachmann-De Lange Syndrome	Cdls
Bdls	Typus Degenerativus Amstelodamensis

Shox-Related Short Stature

Idiopathic Familial Short Stature

Leri-Weill Dyschondrosteosis

LWD	Dyschondrosteosis
Dco	Léri-Weill Dyschondrosteosis
Leri Weill Dyschondrosteosis	Leri-Weill Syndrome
Leri-Weil Syndrome	Dyschondrosteosis, Leri-Weill

Sinoatrial Node Disease

Sa Node	Sinuatrial Node
Sinus Node Dysfunction

Cleft Palate, Isolated

Cleft Palate	Isolated Cleft Palate
CPI	Cp
Palatoschisis	Cleft Palate Isolated
Uranostaphyloschisis	Congenital Fissure Of Palate
Cleft Of Secondary Palate

Familial Atrial Fibrillation

Atrial Fibrillation, Familial	Atfb
Atrial Fibrillation Autosomal Dominant	Autosomal Dominant Atrial Fibrillation
Auricular Fibrillation	Atrial Fibrillation
Atrial Fibrillation, Familial, 1

Orofacial Cleft

Cleft, Orofacial

Osteochondrodysplasia

Skeletal Dysplasia	Chondrodystrophy
Congenital Anomaly Of Cartilage	Osteochondrodysplasias
Cartilage Development Disorder	Osteochondrodysplasia Syndrome
Dysplasia, Skeletal	Mucopolysaccharidosis Iv

West Syndrome

Infantile Spasms	Infantile Spasms Syndrome
Infantile Spasm	X-Linked Infantile Spasm Syndrome
X-Linked Infantile Spasms	Epileptic Encephalopathy, Early Infantile, 1
Is	Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
West'S Syndrome	Spasms, Infantile
Is -[Infantile Spasm]	Salaam Spasm
Salaam Tic

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-RS12880	SHOX2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	SHOX2	VGNC	VGNC:102842
Macaca mulatta	SHOX2	VGNC	VGNC:77212
Mus musculus	SHOX2	MGD	MGI:1201673
Bos taurus	SHOX2	VGNC	VGNC:34606
Canis familiaris	SHOX2	VGNC	VGNC:46154
Rattus norvegicus	SHOX2	RGD	RGD:3674

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

SHOX2 - short stature homeobox 2 Gene

关于 SHOX2

功能概要

SHOX2 基因产物(3)

SHOX2 蛋白结构

关联疾病

直系同源

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SHOX2 - short stature homeobox 2 Gene

关于 SHOX2

功能概要

SHOX2 基因产物(3)

SHOX2 蛋白结构

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z