SOX5 - SRY-box transcription factor 5 Gene

Homo sapiens

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

Gene ID: 6660 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13596	SOX5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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