SOX30 - SRY-box transcription factor 30 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 11063

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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

HMG_box: HMG (high mobility group) box (337 - 404)

  • 0
  • 200
  • 400
  • 600
  • 753 a.a.
Protein Preferred Names Protein Names

transcription factor SOX-30

  • SRY (sex determining region Y)-box 30

SOX30 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SOX30 O94993 FLI1 Homo sapiens Q01543 25416956
Intra
SOX30 O94993 FLI1 Homo sapiens Q01543 25416956
Intra
SOX30 O94993 AHCYL1 Homo sapiens O43865 25416956
Intra
SOX30 O94993 AHCYL1 Homo sapiens O43865 25416956
Intra
SOX30 O94993 FHL2 Homo sapiens Q14192 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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
Others SOX30 NCBI