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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	92521
Gene name	Sperm antigen with calponin homology and coiled-coil domains 1
Gene symbol	SPECC1
Synonyms (NCBI Gene)	CYTSBHCMOGT-1HCMOGT1NSPNSP5
Chromosome	17
Chromosome location	17p11.2
Summary	The protein encoded by this gene belongs to the cytospin-A family. It is localized in the nucleus, and highly expressed in testis and some cancer cell lines. A chromosomal translocation involving this gene and platelet-derived growth factor receptor, beta

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miRTarBase ID	miRNA	Experiments	Reference
MIRT020795	hsa-miR-155-5p	Proteomics	18668040
MIRT047508	hsa-miR-10a-5p	CLASH	23622248
MIRT045245	hsa-miR-186-5p	CLASH	23622248
MIRT709375	hsa-miR-6768-5p	HITS-CLIP	19536157
MIRT709374	hsa-miR-4438	HITS-CLIP	19536157
MIRT709373	hsa-miR-103b	HITS-CLIP	19536157
MIRT709372	hsa-miR-6499-3p	HITS-CLIP	19536157
MIRT709371	hsa-miR-6847-3p	HITS-CLIP	19536157
MIRT709370	hsa-miR-3135b	HITS-CLIP	19536157
MIRT709369	hsa-miR-504-3p	HITS-CLIP	19536157
MIRT709368	hsa-miR-122-5p	HITS-CLIP	19536157
MIRT709367	hsa-miR-3652	HITS-CLIP	19536157
MIRT709366	hsa-miR-4430	HITS-CLIP	19536157
MIRT709365	hsa-miR-143-5p	HITS-CLIP	19536157
MIRT709364	hsa-miR-377-3p	HITS-CLIP	19536157
MIRT709363	hsa-miR-5698	HITS-CLIP	19536157
MIRT653191	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT653190	hsa-miR-6871-5p	HITS-CLIP	23824327
MIRT653189	hsa-miR-4717-3p	HITS-CLIP	23824327
MIRT618402	hsa-miR-5007-5p	HITS-CLIP	23824327
MIRT618401	hsa-miR-3976	HITS-CLIP	23824327
MIRT618400	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT709375	hsa-miR-6768-5p	HITS-CLIP	19536157
MIRT709374	hsa-miR-4438	HITS-CLIP	19536157
MIRT709373	hsa-miR-103b	HITS-CLIP	19536157
MIRT709372	hsa-miR-6499-3p	HITS-CLIP	19536157
MIRT709371	hsa-miR-6847-3p	HITS-CLIP	19536157
MIRT709370	hsa-miR-3135b	HITS-CLIP	19536157
MIRT709369	hsa-miR-504-3p	HITS-CLIP	19536157
MIRT709368	hsa-miR-122-5p	HITS-CLIP	19536157
MIRT709367	hsa-miR-3652	HITS-CLIP	19536157
MIRT709366	hsa-miR-4430	HITS-CLIP	19536157
MIRT709365	hsa-miR-143-5p	HITS-CLIP	19536157
MIRT709364	hsa-miR-377-3p	HITS-CLIP	19536157
MIRT709363	hsa-miR-5698	HITS-CLIP	19536157
MIRT653191	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT653190	hsa-miR-6871-5p	HITS-CLIP	23824327
MIRT653189	hsa-miR-4717-3p	HITS-CLIP	23824327
MIRT618402	hsa-miR-5007-5p	HITS-CLIP	23824327
MIRT618401	hsa-miR-3976	HITS-CLIP	23824327
MIRT618400	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT1383538	hsa-miR-1184	CLIP-seq
MIRT1383539	hsa-miR-1205	CLIP-seq
MIRT1383540	hsa-miR-1231	CLIP-seq
MIRT1383541	hsa-miR-1343	CLIP-seq
MIRT1383542	hsa-miR-2116	CLIP-seq
MIRT1383543	hsa-miR-3157-5p	CLIP-seq
MIRT1383544	hsa-miR-3158-5p	CLIP-seq
MIRT1383545	hsa-miR-378g	CLIP-seq
MIRT1383546	hsa-miR-4288	CLIP-seq
MIRT1383547	hsa-miR-4418	CLIP-seq
MIRT1383548	hsa-miR-4427	CLIP-seq
MIRT1383549	hsa-miR-4437	CLIP-seq
MIRT1383550	hsa-miR-4674	CLIP-seq
MIRT1383551	hsa-miR-4677-5p	CLIP-seq
MIRT1383552	hsa-miR-4680-3p	CLIP-seq
MIRT1383553	hsa-miR-4691-3p	CLIP-seq
MIRT1383554	hsa-miR-509-3-5p	CLIP-seq
MIRT1383555	hsa-miR-509-5p	CLIP-seq
MIRT1383556	hsa-miR-544	CLIP-seq
MIRT1383557	hsa-miR-632	CLIP-seq
MIRT1383558	hsa-miR-1273f	CLIP-seq
MIRT1383559	hsa-miR-150	CLIP-seq
MIRT1383560	hsa-miR-3138	CLIP-seq
MIRT1383561	hsa-miR-3942-3p	CLIP-seq
MIRT1383562	hsa-miR-4491	CLIP-seq
MIRT1383563	hsa-miR-4657	CLIP-seq
MIRT1383564	hsa-miR-4698	CLIP-seq
MIRT1383565	hsa-miR-4733-5p	CLIP-seq
MIRT1383566	hsa-miR-4800-5p	CLIP-seq
MIRT1383567	hsa-miR-515-5p	CLIP-seq
MIRT1383568	hsa-miR-518d-5p	CLIP-seq
MIRT1383569	hsa-miR-519b-5p	CLIP-seq
MIRT1383570	hsa-miR-519c-5p	CLIP-seq
MIRT1383571	hsa-miR-520c-5p	CLIP-seq
MIRT1383572	hsa-miR-526a	CLIP-seq
MIRT1383573	hsa-miR-579	CLIP-seq
MIRT1383574	hsa-miR-604	CLIP-seq
MIRT1383575	hsa-miR-647	CLIP-seq
MIRT2631087	hsa-miR-320e	CLIP-seq
MIRT2631087	hsa-miR-320e	CLIP-seq

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GO ID	Ontology	Definition	Evidence
GO:0001650	Component	Fibrillar center	IDA
GO:0001824	Process	Blastocyst development	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005815	Component	Microtubule organizing center	IBA
GO:0005829	Component	Cytosol	IDA
GO:0008306	Process	Associative learning	IEA
GO:0016020	Component	Membrane	IEA
GO:0030036	Process	Actin cytoskeleton organization	IBA
GO:0031941	Component	Filamentous actin	IBA
GO:0045177	Component	Apical part of cell	IEA

MIM	HGNC	e!Ensembl
608793	30615	ENSG00000128487

Q5M775

Protein name

Cytospin-B (Nuclear structure protein 5) (NSP5) (Sperm antigen HCMOGT-1) (Sperm antigen with calponin homology and coiled-coil domains 1)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00307	CH	962 → 1068	Calponin homology (CH) domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in testis. Barely detectable in other tissues. Also highly expressed in some cancer cell lines. {ECO:0000269|PubMed:15602574}.

Sequence

MRSAAKPWNPAIRAGGHGPDRVRPLPAASSGMKSSKSSTSLAFESRLSRLKRASSEDTLN
KPGSTAASGVVRLKKTATAGAISELTESRLRSGTGAFTTTKRTGIPAPREFSVTVSRERS
VPRGPSNPRKSVSSPTSSNTPTPTKHLRTPSTKPKQENEGGEKAALESQVRELLAEAKAK
DSEINRLRSELKKYKEKRTLNAEGTDALGPNVDGTSVSPGDTEPMIRALEEKNKNFQKEL
SDLEEENRVLKEKLIYLEHSPNSEGAASHTGDSSCPTSITQESSFGSPTGNQMSSDIDEY
KKNIHGNALRTSGSSSSDVTKASLSPDASDFEHITAETPSRPLSSTSNPFKSSKCSTAGS
SPNSVSELSLASLTEKIQKMEENHHSTAEELQATLQELSDQQQMVQELTAENEKLVDEKT
ILETSFHQHRERAEQLSQENEKLMNLLQERVKNEEPTTQEGKIIELEQKCTGILEQGRFE
REKLLNIQQQLTCSLRKVEEENQGALEMIKRLKEENEKLNEFLELERHNNNMMAKTLEEC
RVTLEGLKMENGSLKSHLQGEKQKATEASAVEQTAESCEVQEMLKVARAEKDLLELSCNE
LRQELLKANGEIKHVSSLLAKVEKDYSYLKEICDHQAEQLSRTSLKLQEKASESDAEIKD
MKETIFELEDQVEQHRAVKLHNNQLISELESSVIKLEEQKSDLERQLKTLTKQMKEETEE
WRRFQADLQTAVVVANDIKCEAQQELRTVKRKLLEEEEKNARLQKELGDVQGHGRVVTSR
AAPPPVDEEPESSEVDAAGRWPGVCVSRTSPTPPESATTVKSLIKSFDLGRPGGAGQNIS
VHKTPRSPLSGIPVRTAPAAAVSPMQRHSTYSSVRPASRGVTQRLDLPDLPLSDILKGRT
ETLKPDPHLRKSPSLESLSRPPSLGFGDTRLLSASTRAWKPQSKLSVERKDPLAALAREY
GGSKRNALLKWCQKKTQGYANIDITNFSSSWSDGLAFCALLHTYLPAHIPYQELNSQEKK
RNLLLAFEAAESVGIKPSLELSEMLYTDRPDWQSVMQYVAQIYKYFET

Sequence length

1068

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Myoepithelial tumor	Likely pathogenic	rs2544718723	RCV002463885	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Coronavirus Infections	Associate	39237598	★★★★★ ★☆☆☆☆ Found in Text Mining only
COVID 19	Associate	32344305, 33173052, 35328105, 35389264, 35707000	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diarrhea	Associate	25121549	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Associate	32852391	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Associate	23299920	★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Inflammatory Response Syndrome	Associate	32852391	★★★★★ ★☆☆☆☆ Found in Text Mining only

SPECC1 (sperm antigen with calponin homology and coiled-coil domains 1)