SOX30 - SRY-box transcription factor 30 Gene

Homo sapiens

Gene ID: 11063 | Gene type: protein coding

About SOX30

Cytogenetic location: 5q33.3 Genomic coordinates (GRCh38): 5:157,625,679-157,671,480 (from NCBI)

This gene has 3 transcripts (splice variants), 157 orthologues and 20 paralogues. Restricted expression toward testis (RPKM 26.2).

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 acts as a transcriptional regulator when present in a complex with other proteins. It can activate p53 transcription to promote tumor cell Apoptosis in lung Cancer. The protein may be involved in the differentiation of developing male germ cells. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Apr 2015]

SOX30 Products(3)

mRNA	Protein	Name
NM_001308165.2	NP_001295094.1	transcription factor SOX-30 isoform c
NM_007017.3	NP_008948.1	transcription factor SOX-30 isoform b
NM_178424.2	NP_848511.1	transcription factor SOX-30 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	10359848	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	10359848	GOA
enables beta-catenin binding	IPI IPI: Inferred from physical interaction	29739711	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21516116	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	29739711	GOA
involved in regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	10359848	GOA
involved in response to corticosteroid	IEP IEP: Inferred from expression pattern	18436822	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	29739711	GOA
located in nucleus	IDA IDA: Inferred from direct assay	10359848	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

SOX30 Protein Structure

HMG_box

0
200
400
600
753 a.a.

Protein Preferred Names

Protein Names

transcription factor SOX-30

SRY (sex determining region Y)-box 30

Related Diseases

Diseases

Alias

Male Infertility

Infertility, Male	Infertility Male
Male Sterility	Absolute Infertility

Lung Cancer

Lung Carcinoma	Non-Small Cell Lung Carcinoma
Lung Cancer, Susceptibility To	Lung Cancer, Protection Against
Adenocarcinoma Of Lung, Somatic	Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In
Nonsmall Cell Lung Cancer	Lung Neoplasm
Carcinoma Of Lung	Lung Non-Small Cell Carcinoma
Non-Small Cell Lung Cancer	Nsclc
Lung Neoplasms	Malignant Neoplasm Of Lung
Alveolar Cell Carcinoma	Nonsmall Cell Lung Cancer, Somatic
Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In	Nonsmall Cell Lung Cancer, Susceptibility To
Lung Cancer, Somatic	Lung Cancer, Resistance To
Cancer Of Lung	Cancer Of Bronchus
Cancer Of The Lung	Lung Malignancies
Lung Malignant Tumors	Malignant Lung Tumor
Malignant Tumor Of Lung	Pulmonary Cancer
Pulmonary Carcinoma	Pulmonary Neoplasms
Respiratory Carcinoma	LNCR
Adenocarcinoma Of Lung	Neoplasm Of Lung
Cancer Lung	Carcinoma Non-Small Cell Lung
Carcinoma, Non-Small-Cell Lung	Lung Cancers
Lung Carcinomas	Cancer, Lung
Cancer, Lung, Non-Small Cell	Primary Malignant Neoplasm Of Lung
Bronchioloalveolar Adenocarcinoma

Spermatogenic Failure, Y-Linked, 2

SPGFY2	Spermatogenic Failure, Nonobstructive, Y-Linked
Y-Linked Spermatogenic Failure 2	Azoospermia, Nonobstructive, Y-Linked
Oligozoospermia, Nonobstructive, Y-Linked	Oligospermia, Nonobstructive, Y-Linked
Spermatogenic Arrest, Y-Linked	Nonobstructive Y-Linked Spermatogenic Failure
Spermatogenic Failure Y-Linked 2	Azoospermia Non-Obstructive Y-Linked
Non-Obstructive Azoospermia And Infertility	Oligospermia Non-Obstructive Y-Linked
Oligozoospermia Non-Obstructive Y-Linked	Spermatogenic Arrest Y-Linked
Spermatogenic Failure Nonobstructive Y-Linked

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-RS13594	SOX30 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SOX30	VGNC	VGNC:35148
Rattus norvegicus	SOX30	RGD	RGD:1586382
Macaca mulatta	SOX30	VGNC	VGNC:78026
Canis familiaris	SOX30	VGNC	VGNC:46680
Felis catus	SOX30	VGNC	VGNC:65582
Mus musculus	SOX30	MGD	MGI:1341157

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