Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	8082
Gene name Gene Name - the full gene name approved by the HGNC.	Sarcospan
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SSPN
Synonyms (NCBI Gene) Gene synonyms aliases	DAGA5, KRAG, NSPN, SPN1, SPN2
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12p12.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the dystrophin-glycoprotein complex (DGC). The DGC spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal

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miRTarBase ID	miRNA	Experiments	Reference
MIRT018051	hsa-miR-335-5p	Microarray	18185580
MIRT540824	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT540823	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT540822	hsa-miR-567	HITS-CLIP	21572407
MIRT540821	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT540820	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT540819	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT540818	hsa-miR-297	HITS-CLIP	21572407
MIRT545616	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT540817	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT635960	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT635958	hsa-miR-3907	HITS-CLIP	23824327
MIRT635959	hsa-miR-4775	HITS-CLIP	23824327
MIRT635957	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT635960	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT635958	hsa-miR-3907	HITS-CLIP	23824327
MIRT635959	hsa-miR-4775	HITS-CLIP	23824327
MIRT635957	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT570256	hsa-miR-3173-3p	PAR-CLIP	20371350
MIRT570255	hsa-miR-6891-5p	PAR-CLIP	20371350
MIRT491415	hsa-miR-4779	PAR-CLIP	20371350
MIRT491416	hsa-miR-296-3p	PAR-CLIP	20371350
MIRT570254	hsa-miR-6134	PAR-CLIP	20371350
MIRT491413	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT491412	hsa-miR-6077	PAR-CLIP	20371350
MIRT491411	hsa-miR-765	PAR-CLIP	20371350
MIRT570253	hsa-miR-3689d	PAR-CLIP	20371350
MIRT570252	hsa-miR-6851-5p	PAR-CLIP	20371350
MIRT570251	hsa-miR-3190-3p	PAR-CLIP	20371350
MIRT540824	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT540823	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT540822	hsa-miR-567	PAR-CLIP	20371350
MIRT540821	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT540820	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT540819	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT540818	hsa-miR-297	PAR-CLIP	20371350
MIRT545616	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT540817	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT540824	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT540823	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT552217	hsa-miR-3653-5p	PAR-CLIP	21572407
MIRT552216	hsa-miR-1976	PAR-CLIP	21572407
MIRT540822	hsa-miR-567	PAR-CLIP	21572407
MIRT540821	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT540820	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT540819	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT552215	hsa-miR-378a-5p	PAR-CLIP	21572407
MIRT540818	hsa-miR-297	PAR-CLIP	21572407
MIRT545616	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT540817	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT540824	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT540823	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT540822	hsa-miR-567	PAR-CLIP	21572407
MIRT540821	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT540820	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT540819	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT540818	hsa-miR-297	PAR-CLIP	21572407
MIRT545616	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT540817	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT540824	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT540823	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT540822	hsa-miR-567	PAR-CLIP	21572407
MIRT540821	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT540820	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT540819	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT540818	hsa-miR-297	PAR-CLIP	21572407
MIRT540817	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT491415	hsa-miR-4779	PAR-CLIP	23592263
MIRT491416	hsa-miR-296-3p	PAR-CLIP	23592263
MIRT491414	hsa-miR-4719	PAR-CLIP	23592263
MIRT491413	hsa-miR-7-5p	PAR-CLIP	23592263
MIRT491412	hsa-miR-6077	PAR-CLIP	23592263
MIRT491411	hsa-miR-765	PAR-CLIP	23592263
MIRT540824	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT540823	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT540822	hsa-miR-567	HITS-CLIP	21572407
MIRT540821	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT540820	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT540819	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT540818	hsa-miR-297	HITS-CLIP	21572407
MIRT545616	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT540817	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT635960	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT635958	hsa-miR-3907	HITS-CLIP	23824327
MIRT635959	hsa-miR-4775	HITS-CLIP	23824327
MIRT635957	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT635960	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT635958	hsa-miR-3907	HITS-CLIP	23824327
MIRT635959	hsa-miR-4775	HITS-CLIP	23824327
MIRT635957	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT570256	hsa-miR-3173-3p	PAR-CLIP	20371350
MIRT570255	hsa-miR-6891-5p	PAR-CLIP	20371350
MIRT491415	hsa-miR-4779	PAR-CLIP	20371350
MIRT491416	hsa-miR-296-3p	PAR-CLIP	20371350
MIRT570254	hsa-miR-6134	PAR-CLIP	20371350
MIRT491413	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT491412	hsa-miR-6077	PAR-CLIP	20371350
MIRT491411	hsa-miR-765	PAR-CLIP	20371350
MIRT570253	hsa-miR-3689d	PAR-CLIP	20371350
MIRT570252	hsa-miR-6851-5p	PAR-CLIP	20371350
MIRT570251	hsa-miR-3190-3p	PAR-CLIP	20371350
MIRT540824	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT540823	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT540822	hsa-miR-567	PAR-CLIP	20371350
MIRT540821	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT540820	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT540819	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT540818	hsa-miR-297	PAR-CLIP	20371350
MIRT545616	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT540817	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT540824	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT540823	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT552217	hsa-miR-3653-5p	PAR-CLIP	21572407
MIRT552216	hsa-miR-1976	PAR-CLIP	21572407
MIRT540822	hsa-miR-567	PAR-CLIP	21572407
MIRT540821	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT540820	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT540819	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT552215	hsa-miR-378a-5p	PAR-CLIP	21572407
MIRT540818	hsa-miR-297	PAR-CLIP	21572407
MIRT545616	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT540817	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT540824	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT540823	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT540822	hsa-miR-567	PAR-CLIP	21572407
MIRT540821	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT540820	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT540819	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT540818	hsa-miR-297	PAR-CLIP	21572407
MIRT545616	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT540817	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT540824	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT540823	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT540822	hsa-miR-567	PAR-CLIP	21572407
MIRT540821	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT540820	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT540819	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT540818	hsa-miR-297	PAR-CLIP	21572407
MIRT540817	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT491415	hsa-miR-4779	PAR-CLIP	23592263
MIRT491416	hsa-miR-296-3p	PAR-CLIP	23592263
MIRT491414	hsa-miR-4719	PAR-CLIP	23592263
MIRT491413	hsa-miR-7-5p	PAR-CLIP	23592263
MIRT491412	hsa-miR-6077	PAR-CLIP	23592263
MIRT491411	hsa-miR-765	PAR-CLIP	23592263
MIRT1392233	hsa-miR-1193	CLIP-seq
MIRT1392234	hsa-miR-1321	CLIP-seq
MIRT1392235	hsa-miR-1323	CLIP-seq
MIRT1392236	hsa-miR-154	CLIP-seq
MIRT1392237	hsa-miR-186	CLIP-seq
MIRT1392238	hsa-miR-2053	CLIP-seq
MIRT1392239	hsa-miR-3133	CLIP-seq
MIRT1392240	hsa-miR-4307	CLIP-seq
MIRT1392241	hsa-miR-4419a	CLIP-seq
MIRT1392242	hsa-miR-4422	CLIP-seq
MIRT1392243	hsa-miR-4493	CLIP-seq
MIRT1392244	hsa-miR-4510	CLIP-seq
MIRT1392245	hsa-miR-4534	CLIP-seq
MIRT1392246	hsa-miR-4711-3p	CLIP-seq
MIRT1392247	hsa-miR-4739	CLIP-seq
MIRT1392248	hsa-miR-4753-5p	CLIP-seq
MIRT1392249	hsa-miR-4756-5p	CLIP-seq
MIRT1392250	hsa-miR-511	CLIP-seq
MIRT1392251	hsa-miR-515-5p	CLIP-seq
MIRT1392252	hsa-miR-548o	CLIP-seq
MIRT1392253	hsa-miR-636	CLIP-seq
MIRT1392237	hsa-miR-186	CLIP-seq
MIRT1392254	hsa-miR-3119	CLIP-seq
MIRT1392255	hsa-miR-3942-3p	CLIP-seq
MIRT1392256	hsa-miR-4496	CLIP-seq
MIRT1392257	hsa-miR-599	CLIP-seq
MIRT2117544	hsa-miR-3143	CLIP-seq
MIRT2117545	hsa-miR-3180-5p	CLIP-seq
MIRT2117546	hsa-miR-3185	CLIP-seq
MIRT2117547	hsa-miR-320a	CLIP-seq
MIRT2117548	hsa-miR-320b	CLIP-seq
MIRT2117549	hsa-miR-320c	CLIP-seq
MIRT2117550	hsa-miR-320d	CLIP-seq
MIRT2117551	hsa-miR-4421	CLIP-seq
MIRT2117552	hsa-miR-4429	CLIP-seq
MIRT2117553	hsa-miR-4639-5p	CLIP-seq
MIRT2117554	hsa-miR-4797-5p	CLIP-seq
MIRT2117555	hsa-miR-509-3p	CLIP-seq
MIRT1392251	hsa-miR-515-5p	CLIP-seq
MIRT2117556	hsa-miR-520a-5p	CLIP-seq
MIRT2117557	hsa-miR-525-5p	CLIP-seq
MIRT2117558	hsa-miR-543	CLIP-seq
MIRT2117559	hsa-miR-556-3p	CLIP-seq
MIRT2117560	hsa-miR-595	CLIP-seq
MIRT2633561	hsa-miR-4263	CLIP-seq
MIRT2633562	hsa-miR-4436b-5p	CLIP-seq
MIRT2633563	hsa-miR-4659a-3p	CLIP-seq
MIRT2633564	hsa-miR-4659b-3p	CLIP-seq
MIRT2633565	hsa-miR-944	CLIP-seq
MIRT1392240	hsa-miR-4307	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
BTF3	Repression	17312387

Show/Hide all(13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9395445
GO:0006936	Process	Muscle contraction	TAS	9395445
GO:0007155	Process	Cell adhesion	TAS	9395445
GO:0016010	Component	Dystrophin-associated glycoprotein complex	IEA
GO:0016010	Component	Dystrophin-associated glycoprotein complex	TAS	9395445
GO:0016020	Component	Membrane	IEA
GO:0030133	Component	Transport vesicle	IDA
GO:0042383	Component	Sarcolemma	IBA
GO:0042383	Component	Sarcolemma	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA

MIM	HGNC	e!Ensembl
601599	11322	ENSG00000123096

Protein

UniProt ID

Q14714

Protein name

Sarcospan (K-ras oncogene-associated protein) (Kirsten-ras-associated protein)

Protein function

Component of the dystrophin-glycoprotein complex (DGC), a complex that spans the muscle plasma membrane and forms a link between the F-actin cytoskeleton and the extracellular matrix. Preferentially associates with the sarcoglycan subcomplex of

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04103	CD20	55 → 210	CD20-like family	Family

Tissue specificity

TISSUE SPECIFICITY: Isoform 1 is expressed exclusively in heart and skeletal muscle. Isoform 2 is expressed in heart, skeletal muscle, thymus, prostate, testis, ovary, small intestine, colon and spleen.

Sequence

MGKNKQPRGQQRQGGPPAADAAGPDDMEPKKGTGAPKECGEEEPRTCCGCRFPLLLALLQ
LALGIAVTVVGFLMASISSSLLVRDTPFWAGIIVCLVAYLGLFMLCVSYQVDERTCIQFS
MKLLYFLLSALGLTVCVLAVAFAAHHYSQLTQFTCETTLDSCQCKLPSSEPLSRTFVYRD
VTDCTSVTGTFKLFLLIQMILNLVCGLVCLLACFVMWKHRYQVFYVGVRICSLTASEGPQ
QKI

Sequence length

243

Interactions

View interactions

	KEGG
	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Dilated cardiomyopathy Viral myocarditis

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Atrial Fibrillation	Atrial fibrillation	N/A	N/A	GWAS
Carcinoma	Basal cell carcinoma	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Alopecia	Associate	27060448
Atrial Fibrillation	Associate	30061737
Breast Neoplasms	Associate	36344993
Fibrosis of Extraocular Muscles Congenital 3B	Associate	11180757
Obesity	Associate	26449484

SSPN (sarcospan)