SFSWAP - splicing factor SWAP Gene

Homo sapiens

Also known as SWAP; SFRS8

Gene ID: 6433 | Gene type: protein coding

About SFSWAP

Cytogenetic location: 12q24.33 Genomic coordinates (GRCh38): 12:131,711,090-131,799,738 (from NCBI)

This gene has 11 transcripts (splice variants), 209 orthologues and 1 paralogue. Ubiquitous expression in bone marrow (RPKM 11.1), spleen (RPKM 9.4) and 25 other tissues.

Summary

This gene encodes a human homolog of Drosophila splicing regulatory protein. This gene autoregulates its expression by control of splicing of its first two introns. In addition, it also regulates the splicing of fibronectin and CD45 genes. Two transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012]

SFSWAP Products(2)

mRNA	Protein	Name
NM_001261411.2	NP_001248340.1	splicing factor, suppressor of white-apricot homolog isoform 1
NM_004592.4	NP_004583.2	splicing factor, suppressor of white-apricot homolog isoform 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	26420826	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

SFSWAP Protein Structure

DRY_EERY

Surp

0
200
400
600
800
951 a.a.

Protein Preferred Names

Protein Names

splicing factor, suppressor of white-apricot homolog

splicing factor SWAP homolog

Related Diseases

Diseases

Alias

Deafness, Autosomal Dominant 41

DFNA41	Autosomal Dominant Nonsyndromic Deafness 41
Autosomal Dominant Deafness 41	Deafness, Autosomal Dominant, 41
Deafness, Autosomal Dominant, Type 41

Pulmonary Subvalvular Stenosis

Pulmonary Infundibular Stenosis	Congenital Infundibular Stenosis
Infundibular Pulmonic Stenosis	Infundibular Pulmonic Stenosis, Congenital
Subvalvular Pulmonic Stenosis

Meninges Sarcoma

Meningeal Sarcoma	Sarcoma Of Meninges
Meningothelial Sarcoma	Leptomeningeal Sarcoma

Deafness, Autosomal Dominant 27

DFNA27	Autosomal Dominant Nonsyndromic Deafness 27
Autosomal Dominant Deafness 27	Deafness, Autosomal Dominant, 27

Supraglottis Neoplasm

Neoplasm Of Supraglottis

Supraglottic Tumor

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-RS12778	SFSWAP Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SFSWAP	VGNC	VGNC:77188
Mus musculus	SFSWAP	MGD	MGI:101760
Bos taurus	SFSWAP	VGNC	VGNC:34524
Rattus norvegicus	SFSWAP	RGD	RGD:1305004
Felis catus	SFSWAP	VGNC	VGNC:65065
Canis familiaris	SFSWAP	VGNC	VGNC:46084
Others	SFSWAP	NCBI

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