SOX13 SRY-box transcription factor 13 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SOX13provided by HGNC
Official Full Name: SRY-box transcription factor 13provided by HGNC
Primary source: HGNC:HGNC:11192
See related: Ensembl:ENSG00000143842 MIM:604748; AllianceGenome:HGNC:11192
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ICA12; Sox-13
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 cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. It has also been determined to be a type-1 diabetes autoantigen, also known as islet cell antibody 12. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in placenta (RPKM 12.7), endometrium (RPKM 11.6) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q32.1

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (204073115..204127743)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (203337265..203391900)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (204042243..204096871)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

THAP9-AS1 promotes nasopharyngeal carcinoma progression through targeted regulation of the miR-185-5p/SOX13 axis.
Title: THAP9-AS1 promotes nasopharyngeal carcinoma progression through targeted regulation of the miR-185-5p/SOX13 axis.
Sox13 and M2-like leukemia-associated macrophages contribute to endogenous IL-34 caused accelerated progression of acute myeloid leukemia.
Title: Sox13 and M2-like leukemia-associated macrophages contribute to endogenous IL-34 caused accelerated progression of acute myeloid leukemia.
Sex-determining Region Y-box transcription factor 13 promotes breast cancer cell proliferation and glycolysis by activating the tripartite motif containing 11-mediated Wnt/beta-catenin signaling pathway.
Title: Sex-determining Region Y-box transcription factor 13 promotes breast cancer cell proliferation and glycolysis by activating the tripartite motif containing 11-mediated Wnt/β-catenin signaling pathway.
SOX13 gene downregulation in peripheral blood mononuclear cells of patients with Klinefelter syndrome.
Title: SOX13 gene downregulation in peripheral blood mononuclear cells of patients with Klinefelter syndrome.
Sox13 promotes hepatocellular carcinoma metastasis by transcriptionally activating Twist1.
Title: Sox13 promotes hepatocellular carcinoma metastasis by transcriptionally activating Twist1.
SOX13 promotes colorectal cancer metastasis by transactivating SNAI2 and c-MET.
Title: SOX13 promotes colorectal cancer metastasis by transactivating SNAI2 and c-MET.
combined SOX13 and PAX8 expression regulate the proliferation of gastric cancer cells
Title: SOX13 dependent PAX8 expression promotes the proliferation of gastric carcinoma cells.
the interaction between Hhex and SOX13 may contribute to control Wnt/TCF1 signaling in the early embryo.
Title: Interaction between Hhex and SOX13 modulates Wnt/TCF activity.
Observational study of gene-disease association. (HuGE Navigator)
Title: Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SOX13_415 (e-PCR)
- UniSTS:277761

L17688 (e-PCR)
- UniSTS:74509

L17705 (e-PCR)
- UniSTS:66091

D8S2279 (e-PCR)
- UniSTS:473907

D1S2668 (e-PCR)
- UniSTS:5688

WI-10728 (e-PCR)
- UniSTS:2421

SHGC-76123 (e-PCR)
- UniSTS:18557

G59948 (e-PCR)
- UniSTS:137089

D1S2717 (e-PCR), detects polymorphism
- UniSTS:59033

GDB:631802 (e-PCR)
- UniSTS:158429

G54597 (e-PCR)
- UniSTS:117733

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription repressor activity	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IMP Inferred from Mutant Phenotype more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in anatomical structure morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in cell fate commitment	IBA Inferred from Biological aspect of Ancestor more info
involved_in gamma-delta T cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of brown fat cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of gamma-delta T cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in spinal cord oligodendrocyte cell differentiation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: transcription factor SOX-13

Names: SRY (sex determining region Y)-box 13; SRY-box 13; SRY-related HMG-box gene 13; islet cell antibody 12; islet cell antigen 12; type 1 diabetes autoantigen ICA12

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_005686.3 → NP_005677.2 transcription factor SOX-13

See identical proteins and their annotated locations for NP_005677.2

Status: REVIEWED

Source sequence(s)

AF098915, AF116571, AL592146, BM450236, BQ216323, BQ935858

Consensus CDS

CCDS44299.1

UniProtKB/Swiss-Prot

B4E2B0, O95275, O95826, Q3KQV7, Q5SXX1, Q9UHW7, Q9UN79

Related

ENSP00000356172.1, ENST00000367204.6

Conserved Domains (1) summary

cd01388
Location:423 → 494

SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

204073115..204127743

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005245623.4 → XP_005245680.1 transcription factor SOX-13 isoform X2

Conserved Domains (1) summary

cd01388
Location:422 → 493

SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
XM_047435006.1 → XP_047290962.1 transcription factor SOX-13 isoform X1

UniProtKB/Swiss-Prot

B4E2B0, O95275, O95826, Q3KQV7, Q5SXX1, Q9UHW7, Q9UN79
XM_047435007.1 → XP_047290963.1 transcription factor SOX-13 isoform X2