2. Gene
  3. SOX5 - SRY-box transcription factor 5 Gene

SOX5 - SRY-box transcription factor 5 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference 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 Reference 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

HMG_box: HMG (high mobility group) box (556 - 624)

  • 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 Reference
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
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