SOX5 - SRY-box transcription factor 5 Gene

中文名称：SRY-box 转录因子 5

种属: Homo sapiens

同用名: L-SOX5; LAMSHF; L-SOX5B; L-SOX5F

基因 ID: 6660 | 基因类型: protein coding

关于 SOX5

Cytogenetic location: 12p12.1 Genomic coordinates (GRCh38): 12:23,529,504-24,562,650 (from NCBI)

This gene has 23 transcripts (splice variants), 210 orthologues, 20 paralogues and is associated with 4 phenotypes. Broad expression in testis (RPKM 2.2), brain (RPKM 1.6) and 22 other tissues.

功能概要

该基因编码参与胚胎发育调控和细胞命运决定的转录因子 SOX (SRY 相关 HMG 盒) 家族成员。编码的蛋白质在与其他蛋白质形成蛋白质复合物后可以充当转录调节剂。编码的蛋白质可能在软骨形成中发挥作用。该基因的假基因位于 8 号染色体上。已为该基因鉴定出编码不同亚型的多个转录变体。[RefSeq 提供，2008 年 7 月]

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with Other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

SOX5 基因产物(6)

mRNA	Protein	Name
NM_001261414.3	NP_001248343.1	transcription factor SOX-5 isoform d
NM_001261415.3	NP_001248344.1	transcription factor SOX-5 isoform e
NM_001330785.2	NP_001317714.1	transcription factor SOX-5 isoform f
NM_006940.6	NP_008871.3	transcription factor SOX-5 isoform a
NM_152989.5	NP_694534.1	transcription factor SOX-5 isoform b
NM_178010.4	NP_821078.1	transcription factor SOX-5 isoform c

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 protein binding	IPI IPI: 通过物理相互作用推断	21262861	GOA
enables transcription cis-regulatory region binding	IDA IDA: 通过直接分析推断	26525805	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in asymmetric neuroblast division	IGI IGI: 通过遗传相互作用推断	23946438	GOA
involved in cellular response to transforming growth factor beta stimulus	IDA IDA: 通过直接分析推断	21401405	GOA
involved in positive regulation of cartilage development	IDA IDA: 通过直接分析推断	21401405	GOA
involved in positive regulation of chondrocyte differentiation	IDA IDA: 通过直接分析推断	21401405	GOA
involved in positive regulation of mesenchymal stem cell differentiation	IDA IDA: 通过直接分析推断	21401405	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

SOX5 蛋白结构

HMG_box

0
200
400
600
763 a.a.

蛋白主名

其他名称

transcription factor SOX-5

SRY (sex determining region Y)-box 5

SOX5 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	SOX5	P35711	PRR20C	Homo sapiens	P86479	Y2H Prey Pooling	25416956
种属内	SOX5	P35711	PRR20C	Homo sapiens	P86479	Validated Y2H	25416956
种属内	SOX5	P35711	PRR20C	Homo sapiens	P86479	Y2H Array	25416956
种属内	SOX5	P35711	SUMO1P1	Homo sapiens	G2XKQ0	Validated Y2H	25416956
种属内	SOX5	P35711	SUMO1P1	Homo sapiens	G2XKQ0	Y2H Array	25416956
种属内	SOX5	P35711	KIFC3	Homo sapiens	Q9BVG8	Y2H Prey Pooling	25416956
种属内	SOX5	P35711	KIFC3	Homo sapiens	Q9BVG8	Validated Y2H	25416956
种属内	SOX5	P35711	KIFC3	Homo sapiens	Q9BVG8	Y2H Array	25416956
种属内	SOX5	P35711	SHOX	Homo sapiens	O15266	Y2H	21262861
种属内	SOX5	P35711	SHOX	Homo sapiens	O15266	Anti Tag CoIP	21262861
种属内	SOX5	P35711	CDC23	Homo sapiens	Q9UJX2	Y2H Array	25416956
种属内	SOX5	P35711	CDC23	Homo sapiens	Q9UJX2	Y2H Prey Pooling	25416956
种属内	SOX5	P35711	CDC23	Homo sapiens	Q9UJX2	Validated Y2H	25416956
种属内	SOX5	P35711	KAT5	Homo sapiens	Q92993	Validated Y2H	25416956
种属内	SOX5	P35711	KAT5	Homo sapiens	Q92993	Y2H Array	25416956
种属内	SOX5	P35711	CBX8	Homo sapiens	Q9HC52	Validated Y2H	25416956
种属内	SOX5	P35711	CBX8	Homo sapiens	Q9HC52	Y2H Array	25416956
种属内	SOX5	P35711	TLE5	Homo sapiens	Q08117	BioID	35140242
种属内	SOX5	P35711	TLE5	Homo sapiens	Q08117	Y2H Prey Pooling	25416956
种属内	SOX5	P35711	TLE5	Homo sapiens	Q08117	Y2H Array	25416956
种属内	SOX5	P35711	TLE5	Homo sapiens	Q08117	Validated Y2H	25416956
种属内	SOX5	P35711	LMO2	Homo sapiens	P25791	Validated Y2H	25416956
种属内	SOX5	P35711	ZNF581	Homo sapiens	Q9P0T4	Y2H Array	25416956
种属内	SOX5	P35711	ZNF581	Homo sapiens	Q9P0T4	Y2H Prey Pooling	25416956
种属内	SOX5	P35711	CRX	Homo sapiens	O43186	Y2H Array	25416956
种属内	SOX5	P35711	CRX	Homo sapiens	O43186	Y2H Array	31515488
种属内	SOX5	P35711	CRX	Homo sapiens	O43186	Validated Y2H	25416956
种属内	SOX5	P35711	TENT5B	Homo sapiens	Q96A09	Validated Y2H	25416956
种属内	SOX5	P35711	TENT5B	Homo sapiens	Q96A09	Y2H Array	25416956
种属内	SOX5	P35711	LMO1	Homo sapiens	P25800	Y2H Prey Pooling	25416956
种属内	SOX5	P35711	MORN3	Homo sapiens	Q6PF18	Y2H Array	25416956
种属间	SOX5	P35711	tax	Human T-cell leukemia virus	P03410	MAPPIT	22458338
种属间	SOX5	P35711	tax	Human T-cell leukemia virus	P03410	Y2H Pooling	22458338

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

Lamb-Shaffer Syndrome

LAMSHF	12p12.1 Microdeletion Syndrome
Developmental And Speech Delay Due To Sox5 Deficiency	Del(12)(P12.1)
Monosomy 12p12.1	Sox5 Haploinsufficiency Syndrome

Optic Nerve Hypoplasia, Bilateral

Optic Nerve Hypoplasia	Bilateral Optic Nerve Hypoplasia
Optic Nerve Hypoplasia, Familial Bilateral	Familial Bilateral Optic Nerve Hypoplasia
Isolated Optic Nerve Hypoplasia/Aplasia	Optic Nerve Aplasia, Bilateral
Onh	BONH
Bilateral Optic Nerve Aplasia	Hypoplasia, Optic Nerve, Bilateral

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

Strabismus

Strabismus, Susceptibility To	Strabismus, Susceptibility To, 1
Strabismus 1

Campomelic Dysplasia

Acampomelic Campomelic Dysplasia	Camptomelic Dysplasia
Campomelic Dysplasia With Autosomal Sex Reversal	Cmpd
CMD1	Cmpd1
Cmpd1/Sra1	Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal
Campomelic Dwarfism	Campomelic Syndrome
Dysplasia, Campomelic	Chronic Myeloproliferative Disorder
Familial Dilated Cardiomyopathy

Myoclonic Epilepsy, Juvenile 3

Myoclonic Epilepsy, Juvenile, Susceptibility To, 3	EJM3
Epilepsy, Juvenile Myoclonic 3	Juvenile Myoclonic Epilepsy 3

Cartilage Disease

Cartilage Diseases	Cartilage
Cartilage Disorder	Chondropathy
Cartilage Disorders

Large Congenital Melanocytic Nevus

Giant Pigmented Hairy Nevus	Giant Congenital Melanocytic Nevus
Gmn	Congenital Pigmented Nevus
Lcmn	Gphn
Giant Congenital Nevus	Bathing Trunk Nevus
Congenital Giant Pigmented Nevus	Congenital Hairy Nevus
Giant Hairy Nevus	Giant Pigmented Nevus
Congenital Giant Pigmented Nevus Of Skin	Congenital Melanocytic Nevus Syndrome
Giant Congenital Melanocytic Nevi	Giant Congenital Pigmented Nevus
Melanocytic Nevus Syndrome, Congenital

Osteochondrodysplasia

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

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-RS13596	SOX5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	SOX5	VGNC	VGNC:77843
Bos taurus	SOX5	VGNC	VGNC:35149
Mus musculus	SOX5	MGD	MGI:98367
Rattus norvegicus	SOX5	RGD	RGD:620471
Canis familiaris	SOX5	VGNC	VGNC:46681

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