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SOX5 - SRY-box transcription factor 5 Gene

Also Known as L-SOX5; LAMSHF; L-SOX5B; L-SOX5F

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6660

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21262861	GOA
enables transcription cis-regulatory region binding	IDA IDA: Inferred from direct assay	26525805	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in asymmetric neuroblast division	IGI IGI: Inferred from genetic interaction	23946438	GOA
involved in cellular response to transforming growth factor beta stimulus	IDA IDA: Inferred from direct assay	21401405	GOA
involved in positive regulation of cartilage development	IDA IDA: Inferred from direct assay	21401405	GOA
involved in positive regulation of chondrocyte differentiation	IDA IDA: Inferred from direct assay	21401405	GOA
involved in positive regulation of mesenchymal stem cell differentiation	IDA IDA: Inferred from direct assay	21401405	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SOX5 Protein Structure

HMG_box

0
200
400
600
763 a.a.

Protein Preferred Names	Protein Names
transcription factor SOX-5	SRY (sex determining region Y)-box 5

SOX5 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SOX5	P35711	PRR20C	Homo sapiens	P86479	Y2H Prey Pooling	25416956
Intra	SOX5	P35711	PRR20C	Homo sapiens	P86479	Validated Y2H	25416956
Intra	SOX5	P35711	PRR20C	Homo sapiens	P86479	Y2H Array	25416956
Intra	SOX5	P35711	SUMO1P1	Homo sapiens	G2XKQ0	Validated Y2H	25416956
Intra	SOX5	P35711	SUMO1P1	Homo sapiens	G2XKQ0	Y2H Array	25416956
Intra	SOX5	P35711	KIFC3	Homo sapiens	Q9BVG8	Y2H Prey Pooling	25416956
Intra	SOX5	P35711	KIFC3	Homo sapiens	Q9BVG8	Validated Y2H	25416956
Intra	SOX5	P35711	KIFC3	Homo sapiens	Q9BVG8	Y2H Array	25416956
Intra	SOX5	P35711	SHOX	Homo sapiens	O15266	Y2H	21262861
Intra	SOX5	P35711	SHOX	Homo sapiens	O15266	Anti Tag CoIP	21262861
Intra	SOX5	P35711	CDC23	Homo sapiens	Q9UJX2	Y2H Array	25416956
Intra	SOX5	P35711	CDC23	Homo sapiens	Q9UJX2	Y2H Prey Pooling	25416956
Intra	SOX5	P35711	CDC23	Homo sapiens	Q9UJX2	Validated Y2H	25416956
Intra	SOX5	P35711	KAT5	Homo sapiens	Q92993	Validated Y2H	25416956
Intra	SOX5	P35711	KAT5	Homo sapiens	Q92993	Y2H Array	25416956
Intra	SOX5	P35711	CBX8	Homo sapiens	Q9HC52	Validated Y2H	25416956
Intra	SOX5	P35711	CBX8	Homo sapiens	Q9HC52	Y2H Array	25416956
Intra	SOX5	P35711	TLE5	Homo sapiens	Q08117	BioID	35140242
Intra	SOX5	P35711	TLE5	Homo sapiens	Q08117	Y2H Prey Pooling	25416956
Intra	SOX5	P35711	TLE5	Homo sapiens	Q08117	Y2H Array	25416956
Intra	SOX5	P35711	TLE5	Homo sapiens	Q08117	Validated Y2H	25416956
Intra	SOX5	P35711	LMO2	Homo sapiens	P25791	Validated Y2H	25416956
Intra	SOX5	P35711	ZNF581	Homo sapiens	Q9P0T4	Y2H Array	25416956
Intra	SOX5	P35711	ZNF581	Homo sapiens	Q9P0T4	Y2H Prey Pooling	25416956
Intra	SOX5	P35711	CRX	Homo sapiens	O43186	Y2H Array	25416956
Intra	SOX5	P35711	CRX	Homo sapiens	O43186	Y2H Array	31515488
Intra	SOX5	P35711	CRX	Homo sapiens	O43186	Validated Y2H	25416956
Intra	SOX5	P35711	TENT5B	Homo sapiens	Q96A09	Validated Y2H	25416956
Intra	SOX5	P35711	TENT5B	Homo sapiens	Q96A09	Y2H Array	25416956
Intra	SOX5	P35711	LMO1	Homo sapiens	P25800	Y2H Prey Pooling	25416956
Intra	SOX5	P35711	MORN3	Homo sapiens	Q6PF18	Y2H Array	25416956
Cross	SOX5	P35711	tax	Human T-cell leukemia virus	P03410	MAPPIT	22458338
Cross	SOX5	P35711	tax	Human T-cell leukemia virus	P03410	Y2H Pooling	22458338

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS20822	Sox5 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS13596	SOX5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W092110	Phe-Tyr	Inhibitor	/	Unkown
HY-RS27336	Sox5 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	SOX5	NCBI