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

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	23384
Gene name Gene Name - the full gene name approved by the HGNC.	Sperm antigen with calponin homology and coiled-coil domains 1 like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SPECC1L
Synonyms (NCBI Gene) Gene synonyms aliases	CYTSA, GBBB2, OBLFC1, TBHS, TBHS1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	OBLFC1, TBHS1
Chromosome Chromosome number	22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	22q11.23
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique facial clefting-1. Alternatively splice

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miRTarBase ID	miRNA	Experiments	Reference
MIRT029692	hsa-miR-26b-5p	Microarray	19088304
MIRT045308	hsa-miR-186-5p	CLASH	23622248
MIRT042765	hsa-miR-339-5p	CLASH	23622248
MIRT042319	hsa-miR-484	CLASH	23622248
MIRT040797	hsa-miR-18a-3p	CLASH	23622248
MIRT039398	hsa-miR-421	CLASH	23622248
MIRT036003	hsa-miR-1301-3p	CLASH	23622248
MIRT1383576	hsa-miR-1229	CLIP-seq
MIRT1383577	hsa-miR-1254	CLIP-seq
MIRT1383578	hsa-miR-1273e	CLIP-seq
MIRT1383579	hsa-miR-185	CLIP-seq
MIRT1383580	hsa-miR-190	CLIP-seq
MIRT1383581	hsa-miR-190b	CLIP-seq
MIRT1383582	hsa-miR-2115	CLIP-seq
MIRT1383583	hsa-miR-24	CLIP-seq
MIRT1383584	hsa-miR-296-5p	CLIP-seq
MIRT1383585	hsa-miR-3116	CLIP-seq
MIRT1383586	hsa-miR-3117-5p	CLIP-seq
MIRT1383587	hsa-miR-3125	CLIP-seq
MIRT1383588	hsa-miR-3176	CLIP-seq
MIRT1383589	hsa-miR-3180	CLIP-seq
MIRT1383590	hsa-miR-3180-3p	CLIP-seq
MIRT1383591	hsa-miR-3180-5p	CLIP-seq
MIRT1383592	hsa-miR-3187-3p	CLIP-seq
MIRT1383593	hsa-miR-3196	CLIP-seq
MIRT1383594	hsa-miR-338-3p	CLIP-seq
MIRT1383595	hsa-miR-342-3p	CLIP-seq
MIRT1383596	hsa-miR-3652	CLIP-seq
MIRT1383597	hsa-miR-3667-3p	CLIP-seq
MIRT1383598	hsa-miR-378g	CLIP-seq
MIRT1383599	hsa-miR-382	CLIP-seq
MIRT1383600	hsa-miR-3916	CLIP-seq
MIRT1383601	hsa-miR-3922-3p	CLIP-seq
MIRT1383602	hsa-miR-4258	CLIP-seq
MIRT1383603	hsa-miR-4284	CLIP-seq
MIRT1383604	hsa-miR-4306	CLIP-seq
MIRT1383605	hsa-miR-4310	CLIP-seq
MIRT1383606	hsa-miR-4327	CLIP-seq
MIRT1383607	hsa-miR-4430	CLIP-seq
MIRT1383608	hsa-miR-4433	CLIP-seq
MIRT1383609	hsa-miR-4437	CLIP-seq
MIRT1383610	hsa-miR-4487	CLIP-seq
MIRT1383611	hsa-miR-4488	CLIP-seq
MIRT1383612	hsa-miR-4529-5p	CLIP-seq
MIRT1383613	hsa-miR-4530	CLIP-seq
MIRT1383614	hsa-miR-4640-5p	CLIP-seq
MIRT1383615	hsa-miR-4644	CLIP-seq
MIRT1383616	hsa-miR-4645-5p	CLIP-seq
MIRT1383617	hsa-miR-4670-5p	CLIP-seq
MIRT1383618	hsa-miR-4673	CLIP-seq
MIRT1383619	hsa-miR-4674	CLIP-seq
MIRT1383620	hsa-miR-4691-5p	CLIP-seq
MIRT1383621	hsa-miR-4697-5p	CLIP-seq
MIRT1383622	hsa-miR-4701-5p	CLIP-seq
MIRT1383623	hsa-miR-4709-5p	CLIP-seq
MIRT1383624	hsa-miR-4717-3p	CLIP-seq
MIRT1383625	hsa-miR-4726-5p	CLIP-seq
MIRT1383626	hsa-miR-4742-5p	CLIP-seq
MIRT1383627	hsa-miR-4757-5p	CLIP-seq
MIRT1383628	hsa-miR-516a-3p	CLIP-seq
MIRT1383629	hsa-miR-548ac	CLIP-seq
MIRT1383630	hsa-miR-548ae	CLIP-seq
MIRT1383631	hsa-miR-548aj	CLIP-seq
MIRT1383632	hsa-miR-548am	CLIP-seq
MIRT1383633	hsa-miR-548d-3p	CLIP-seq
MIRT1383634	hsa-miR-548x	CLIP-seq
MIRT1383635	hsa-miR-548z	CLIP-seq
MIRT1383636	hsa-miR-561	CLIP-seq
MIRT1383637	hsa-miR-588	CLIP-seq
MIRT1383638	hsa-miR-593	CLIP-seq
MIRT1383639	hsa-miR-661	CLIP-seq
MIRT1383640	hsa-miR-7	CLIP-seq
MIRT1383641	hsa-miR-744	CLIP-seq
MIRT1383642	hsa-miR-922	CLIP-seq
MIRT1383643	hsa-miR-1270	CLIP-seq
MIRT1383644	hsa-miR-1825	CLIP-seq
MIRT1383645	hsa-miR-1915	CLIP-seq
MIRT1383646	hsa-miR-199a-5p	CLIP-seq
MIRT1383647	hsa-miR-199b-5p	CLIP-seq
MIRT1383648	hsa-miR-3064-3p	CLIP-seq
MIRT1383649	hsa-miR-3169	CLIP-seq
MIRT1383588	hsa-miR-3176	CLIP-seq
MIRT1383601	hsa-miR-3922-3p	CLIP-seq
MIRT1383650	hsa-miR-3925-3p	CLIP-seq
MIRT1383651	hsa-miR-4300	CLIP-seq
MIRT1383652	hsa-miR-432	CLIP-seq
MIRT1383653	hsa-miR-4324	CLIP-seq
MIRT1383654	hsa-miR-4419a	CLIP-seq
MIRT1383655	hsa-miR-4459	CLIP-seq
MIRT1383610	hsa-miR-4487	CLIP-seq
MIRT1383656	hsa-miR-4510	CLIP-seq
MIRT1383657	hsa-miR-4531	CLIP-seq
MIRT1383658	hsa-miR-4676-5p	CLIP-seq
MIRT1383659	hsa-miR-4700-3p	CLIP-seq
MIRT1383660	hsa-miR-4726-3p	CLIP-seq
MIRT1383661	hsa-miR-4740-5p	CLIP-seq
MIRT1383662	hsa-miR-4779	CLIP-seq
MIRT1383663	hsa-miR-4796-3p	CLIP-seq
MIRT1383664	hsa-miR-515-5p	CLIP-seq
MIRT1383665	hsa-miR-517a	CLIP-seq
MIRT1383666	hsa-miR-517c	CLIP-seq
MIRT1383667	hsa-miR-520g	CLIP-seq
MIRT1383668	hsa-miR-520h	CLIP-seq
MIRT1383669	hsa-miR-575	CLIP-seq
MIRT1383670	hsa-miR-620	CLIP-seq
MIRT1383671	hsa-miR-766	CLIP-seq
MIRT1383672	hsa-miR-920	CLIP-seq
MIRT2114760	hsa-miR-1225-3p	CLIP-seq
MIRT2114761	hsa-miR-1233	CLIP-seq
MIRT2114762	hsa-miR-1253	CLIP-seq
MIRT1383577	hsa-miR-1254	CLIP-seq
MIRT1383578	hsa-miR-1273e	CLIP-seq
MIRT2114763	hsa-miR-1287	CLIP-seq
MIRT2114764	hsa-miR-1291	CLIP-seq
MIRT2114765	hsa-miR-146b-3p	CLIP-seq
MIRT2114766	hsa-miR-181a	CLIP-seq
MIRT2114767	hsa-miR-181b	CLIP-seq
MIRT2114768	hsa-miR-181c	CLIP-seq
MIRT2114769	hsa-miR-181d	CLIP-seq
MIRT1383579	hsa-miR-185	CLIP-seq
MIRT2114770	hsa-miR-1972	CLIP-seq
MIRT1383582	hsa-miR-2115	CLIP-seq
MIRT2114771	hsa-miR-218	CLIP-seq
MIRT1383648	hsa-miR-3064-3p	CLIP-seq
MIRT2114772	hsa-miR-3074-5p	CLIP-seq
MIRT1383585	hsa-miR-3116	CLIP-seq
MIRT1383586	hsa-miR-3117-5p	CLIP-seq
MIRT2114773	hsa-miR-3135	CLIP-seq
MIRT2114774	hsa-miR-3135b	CLIP-seq
MIRT2114775	hsa-miR-3151	CLIP-seq
MIRT1383649	hsa-miR-3169	CLIP-seq
MIRT2114776	hsa-miR-3173-5p	CLIP-seq
MIRT1383588	hsa-miR-3176	CLIP-seq
MIRT2114777	hsa-miR-3179	CLIP-seq
MIRT2114778	hsa-miR-320a	CLIP-seq
MIRT2114779	hsa-miR-320b	CLIP-seq
MIRT2114780	hsa-miR-320c	CLIP-seq
MIRT2114781	hsa-miR-320d	CLIP-seq
MIRT2114782	hsa-miR-324-5p	CLIP-seq
MIRT2114783	hsa-miR-328	CLIP-seq
MIRT1383594	hsa-miR-338-3p	CLIP-seq
MIRT2114784	hsa-miR-34a	CLIP-seq
MIRT2114785	hsa-miR-34c-5p	CLIP-seq
MIRT2114786	hsa-miR-3622b-5p	CLIP-seq
MIRT1383596	hsa-miR-3652	CLIP-seq
MIRT2114787	hsa-miR-3663-5p	CLIP-seq
MIRT2114788	hsa-miR-3665	CLIP-seq
MIRT1383597	hsa-miR-3667-3p	CLIP-seq
MIRT2114789	hsa-miR-3672	CLIP-seq
MIRT2114790	hsa-miR-3688-5p	CLIP-seq
MIRT2114791	hsa-miR-370	CLIP-seq
MIRT1383598	hsa-miR-378g	CLIP-seq
MIRT1383599	hsa-miR-382	CLIP-seq
MIRT2114792	hsa-miR-3907	CLIP-seq
MIRT2114793	hsa-miR-3913-3p	CLIP-seq
MIRT1383601	hsa-miR-3922-3p	CLIP-seq
MIRT2114794	hsa-miR-4254	CLIP-seq
MIRT2114795	hsa-miR-4262	CLIP-seq
MIRT2114796	hsa-miR-4279	CLIP-seq
MIRT1383604	hsa-miR-4306	CLIP-seq
MIRT2114797	hsa-miR-4308	CLIP-seq
MIRT1383652	hsa-miR-432	CLIP-seq
MIRT2114798	hsa-miR-4429	CLIP-seq
MIRT1383607	hsa-miR-4430	CLIP-seq
MIRT2114799	hsa-miR-4434	CLIP-seq
MIRT2114800	hsa-miR-4436b-5p	CLIP-seq
MIRT1383609	hsa-miR-4437	CLIP-seq
MIRT2114801	hsa-miR-4447	CLIP-seq
MIRT2114802	hsa-miR-4456	CLIP-seq
MIRT2114803	hsa-miR-4472	CLIP-seq
MIRT2114804	hsa-miR-4474-3p	CLIP-seq
MIRT2114805	hsa-miR-449a	CLIP-seq
MIRT2114806	hsa-miR-449b	CLIP-seq
MIRT2114807	hsa-miR-4505	CLIP-seq
MIRT2114808	hsa-miR-450b-5p	CLIP-seq
MIRT2114809	hsa-miR-4516	CLIP-seq
MIRT1383613	hsa-miR-4530	CLIP-seq
MIRT2114810	hsa-miR-4635	CLIP-seq
MIRT1383615	hsa-miR-4644	CLIP-seq
MIRT1383616	hsa-miR-4645-5p	CLIP-seq
MIRT2114811	hsa-miR-4650-5p	CLIP-seq
MIRT2114812	hsa-miR-4667-5p	CLIP-seq
MIRT1383617	hsa-miR-4670-5p	CLIP-seq
MIRT1383618	hsa-miR-4673	CLIP-seq
MIRT1383619	hsa-miR-4674	CLIP-seq
MIRT2114813	hsa-miR-4691-3p	CLIP-seq
MIRT1383620	hsa-miR-4691-5p	CLIP-seq
MIRT1383659	hsa-miR-4700-3p	CLIP-seq
MIRT2114814	hsa-miR-4700-5p	CLIP-seq
MIRT1383622	hsa-miR-4701-5p	CLIP-seq
MIRT2114815	hsa-miR-4728-5p	CLIP-seq
MIRT1383661	hsa-miR-4740-5p	CLIP-seq
MIRT2114816	hsa-miR-4764-3p	CLIP-seq
MIRT2114817	hsa-miR-4773	CLIP-seq
MIRT1383663	hsa-miR-4796-3p	CLIP-seq
MIRT2114818	hsa-miR-486-3p	CLIP-seq
MIRT2114819	hsa-miR-489	CLIP-seq
MIRT2114820	hsa-miR-491-5p	CLIP-seq
MIRT2114821	hsa-miR-507	CLIP-seq
MIRT1383665	hsa-miR-517a	CLIP-seq
MIRT1383666	hsa-miR-517c	CLIP-seq
MIRT1383667	hsa-miR-520g	CLIP-seq
MIRT1383668	hsa-miR-520h	CLIP-seq
MIRT1383629	hsa-miR-548ac	CLIP-seq
MIRT1383630	hsa-miR-548ae	CLIP-seq
MIRT1383631	hsa-miR-548aj	CLIP-seq
MIRT1383632	hsa-miR-548am	CLIP-seq
MIRT1383633	hsa-miR-548d-3p	CLIP-seq
MIRT1383634	hsa-miR-548x	CLIP-seq
MIRT1383635	hsa-miR-548z	CLIP-seq
MIRT2114822	hsa-miR-557	CLIP-seq
MIRT1383636	hsa-miR-561	CLIP-seq
MIRT2114823	hsa-miR-570	CLIP-seq
MIRT1383637	hsa-miR-588	CLIP-seq
MIRT1383638	hsa-miR-593	CLIP-seq
MIRT2114824	hsa-miR-618	CLIP-seq
MIRT2114825	hsa-miR-622	CLIP-seq
MIRT2114826	hsa-miR-636	CLIP-seq
MIRT2114827	hsa-miR-637	CLIP-seq
MIRT2114828	hsa-miR-657	CLIP-seq
MIRT1383639	hsa-miR-661	CLIP-seq
MIRT1383640	hsa-miR-7	CLIP-seq
MIRT2114829	hsa-miR-711	CLIP-seq
MIRT2114830	hsa-miR-764	CLIP-seq
MIRT2114831	hsa-miR-874	CLIP-seq
MIRT2337565	hsa-miR-298	CLIP-seq
MIRT2114762	hsa-miR-1253	CLIP-seq
MIRT1383577	hsa-miR-1254	CLIP-seq
MIRT1383643	hsa-miR-1270	CLIP-seq
MIRT1383578	hsa-miR-1273e	CLIP-seq
MIRT2114771	hsa-miR-218	CLIP-seq
MIRT1383585	hsa-miR-3116	CLIP-seq
MIRT1383586	hsa-miR-3117-5p	CLIP-seq
MIRT2114777	hsa-miR-3179	CLIP-seq
MIRT2114778	hsa-miR-320a	CLIP-seq
MIRT2114779	hsa-miR-320b	CLIP-seq
MIRT2114780	hsa-miR-320c	CLIP-seq
MIRT2114781	hsa-miR-320d	CLIP-seq
MIRT1383598	hsa-miR-378g	CLIP-seq
MIRT1383603	hsa-miR-4284	CLIP-seq
MIRT1383652	hsa-miR-432	CLIP-seq
MIRT2114798	hsa-miR-4429	CLIP-seq
MIRT2114799	hsa-miR-4434	CLIP-seq
MIRT1383609	hsa-miR-4437	CLIP-seq
MIRT1383610	hsa-miR-4487	CLIP-seq
MIRT2114809	hsa-miR-4516	CLIP-seq
MIRT1383657	hsa-miR-4531	CLIP-seq
MIRT2114810	hsa-miR-4635	CLIP-seq
MIRT1383619	hsa-miR-4674	CLIP-seq
MIRT1383659	hsa-miR-4700-3p	CLIP-seq
MIRT1383663	hsa-miR-4796-3p	CLIP-seq
MIRT1383667	hsa-miR-520g	CLIP-seq
MIRT1383668	hsa-miR-520h	CLIP-seq
MIRT1383670	hsa-miR-620	CLIP-seq
MIRT2114826	hsa-miR-636	CLIP-seq
MIRT1383639	hsa-miR-661	CLIP-seq
MIRT2114829	hsa-miR-711	CLIP-seq
MIRT2114765	hsa-miR-146b-3p	CLIP-seq
MIRT2114776	hsa-miR-3173-5p	CLIP-seq
MIRT2114794	hsa-miR-4254	CLIP-seq
MIRT2395018	hsa-miR-4280	CLIP-seq
MIRT2114797	hsa-miR-4308	CLIP-seq
MIRT2114831	hsa-miR-874	CLIP-seq
MIRT2631088	hsa-miR-1207-5p	CLIP-seq
MIRT2114762	hsa-miR-1253	CLIP-seq
MIRT1383643	hsa-miR-1270	CLIP-seq
MIRT1383578	hsa-miR-1273e	CLIP-seq
MIRT2631089	hsa-miR-128	CLIP-seq
MIRT2631090	hsa-miR-1285	CLIP-seq
MIRT2114764	hsa-miR-1291	CLIP-seq
MIRT2114771	hsa-miR-218	CLIP-seq
MIRT2631091	hsa-miR-3130-3p	CLIP-seq
MIRT1383588	hsa-miR-3176	CLIP-seq
MIRT1383592	hsa-miR-3187-3p	CLIP-seq
MIRT2631092	hsa-miR-3187-5p	CLIP-seq
MIRT2114778	hsa-miR-320a	CLIP-seq
MIRT2114779	hsa-miR-320b	CLIP-seq
MIRT2114780	hsa-miR-320c	CLIP-seq
MIRT2114781	hsa-miR-320d	CLIP-seq
MIRT2114783	hsa-miR-328	CLIP-seq
MIRT1383598	hsa-miR-378g	CLIP-seq
MIRT2114793	hsa-miR-3913-3p	CLIP-seq
MIRT1383601	hsa-miR-3922-3p	CLIP-seq
MIRT2631093	hsa-miR-3934	CLIP-seq
MIRT2631094	hsa-miR-4299	CLIP-seq
MIRT1383652	hsa-miR-432	CLIP-seq
MIRT2114798	hsa-miR-4429	CLIP-seq
MIRT2631095	hsa-miR-4446-3p	CLIP-seq
MIRT2114802	hsa-miR-4456	CLIP-seq
MIRT2631096	hsa-miR-4486	CLIP-seq
MIRT2114808	hsa-miR-450b-5p	CLIP-seq
MIRT1383612	hsa-miR-4529-5p	CLIP-seq
MIRT1383657	hsa-miR-4531	CLIP-seq
MIRT2631097	hsa-miR-4632	CLIP-seq
MIRT2631098	hsa-miR-4656	CLIP-seq
MIRT2631099	hsa-miR-4763-3p	CLIP-seq
MIRT1383663	hsa-miR-4796-3p	CLIP-seq
MIRT2114819	hsa-miR-489	CLIP-seq
MIRT2114821	hsa-miR-507	CLIP-seq
MIRT1383664	hsa-miR-515-5p	CLIP-seq
MIRT1383667	hsa-miR-520g	CLIP-seq
MIRT1383668	hsa-miR-520h	CLIP-seq
MIRT2631100	hsa-miR-548q	CLIP-seq
MIRT2114822	hsa-miR-557	CLIP-seq
MIRT2631101	hsa-miR-612	CLIP-seq
MIRT1383670	hsa-miR-620	CLIP-seq
MIRT2114826	hsa-miR-636	CLIP-seq
MIRT2631102	hsa-miR-668	CLIP-seq
MIRT2114762	hsa-miR-1253	CLIP-seq
MIRT2631089	hsa-miR-128	CLIP-seq
MIRT1383652	hsa-miR-432	CLIP-seq
MIRT2691861	hsa-miR-4521	CLIP-seq
MIRT2691862	hsa-miR-4661-3p	CLIP-seq
MIRT1383663	hsa-miR-4796-3p	CLIP-seq
MIRT1383664	hsa-miR-515-5p	CLIP-seq
MIRT1383667	hsa-miR-520g	CLIP-seq
MIRT1383668	hsa-miR-520h	CLIP-seq
MIRT2691863	hsa-miR-548an	CLIP-seq
MIRT2631102	hsa-miR-668	CLIP-seq
MIRT2691864	hsa-miR-676	CLIP-seq

Show/Hide all(11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005815	Component	Microtubule organizing center	IBA	21873635
GO:0005819	Component	Spindle	IEA
GO:0005921	Component	Gap junction	IEA
GO:0007049	Process	Cell cycle	IEA
GO:0007155	Process	Cell adhesion	IDA	21703590
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0030036	Process	Actin cytoskeleton organization	IBA	21873635
GO:0031941	Component	Filamentous actin	IBA	21873635
GO:0051301	Process	Cell division	IEA

MIM	HGNC	e!Ensembl
614140	29022	ENSG00000100014

Protein

UniProt ID

Q69YQ0

Protein name

Cytospin-A (Renal carcinoma antigen NY-REN-22) (Sperm antigen with calponin homology and coiled-coil domains 1-like) (SPECC1-like protein)

Protein function

Involved in cytokinesis and spindle organization. May play a role in actin cytoskeleton organization and microtubule stabilization and hence required for proper cell adhesion and migration.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00307	CH	1011 → 1117	Calponin homology (CH) domain	Domain

Sequence

MKKASRSVGSVPKVSAISKTQTAEKIKPENSSSASTGGKLVKPGTAASLSKTKSSDDLLA
GMAGGVTVTNGVKGKKSTCPSAAPSASAPAMTTVENKSKISTGTASSTKRSTSTGNKESS
STRERLRERTRLNQSKKLPSAGQGANDMALAKRSRSRTATECDVRMSKSKSDNQISDRAA
LEAKVKDLLTLAKTKDVEILHLRNELRDMRAQLGINEDHSEGDEKSEKETIMAHQPTDVE
STLLQLQEQNTAIREELNQLKNENRMLKDRLNALGFSLEQRLDNSEKLFGYQSLSPEITP
DNQSDGGGTLTSSVEGSAPGSVEDLLSQDENTLMDHQHSNSMDNLDSECSEVYQPLTSSD
DALDAPSSSESEGIPSIERSRKGSSGNASEVSVACLTERIHQMEENQHSTSEELQATLQE
LADLQQITQELNSENERLGEEKVILMESLCQQSDKLEHFSRQIEYFRSLLDEHHISYVID
EDVKSGRYMELEQRYMDLAENARFEREQLLGVQQHLSNTLKMAEQDNKEAQEMIGALKER
SHHMERIIESEQKGKAALAATLEEYKATVASDQIEMNRLKAQLENEKQKVAELYSIHNSG
DKSDIQDLLESVRLDKEKAETLASSLQEDLAHTRNDANRLQDAIAKVEDEYRAFQEEAKK
QIEDLNMTLEKLRSDLDEKETERSDMKETIFELEDEVEQHRAVKLHDNLIISDLENTVKK
LQDQKHDMEREIKTLHRRLREESAEWRQFQADLQTAVVIANDIKSEAQEEIGDLKRRLHE
AQEKNEKLTKELEEIKSRKQEEERGRVYNYMNAVERDLAALRQGMGLSRRSSTSSEPTPT
VKTLIKSFDSASQVPNPAAAAIPRTPLSPSPMKTPPAAAVSPMQRHSISGPISTSKPLTA
LSDKRPNYGEIPVQEHLLRTSSASRPASLPRVPAMESAKTLSVSRRSSEEVKRDISAQEG
ASPASLMAMGTTSPQLSLSSSPTASVTPTTRSRIREERKDPLSALAREYGGSKRNALLKW
CQKKTEGYQNIDITNFSSSWNDGLAFCALLHTYLPAHIPYQELNSQDKRRNFMLAFQAAE
SVGIKSTLDINEMVRTERPDWQNVMLYVTAIYKYFET

Sequence length

1117

Interactions

View interactions

Show/Hide Causal Diseases (14)

Disease term	Disease name	dbSNP ID	References
Causal
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074 View all (25 more)
Autism	Autistic behavior	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852 View all (22 more)
Craniosynostosis	Craniosynostosis	rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Hearing loss	Conductive hearing loss	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)	25412741
Oculomaxillofacial dysostosis	Oculomaxillofacial dysostosis	rs387907108	26111080, 21703590, 25412741
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Pulmonary arterial hypertension	Pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension	rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424 View all (116 more)
Tetralogy of fallot	Tetralogy of Fallot	rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288 View all (1 more)
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Show/Hide Unknown Diseases (7)

Disease term	Disease name	Source
Unknown
Pulmonary hypoplasia	Congenital hypoplasia of lung	ClinVar
Ptosis	Blepharoptosis, Ptosis	ClinVar
Teebi Syndrome	hypertelorism, Teebi type	GenCC
Opitz GBBB Syndrome, X-Linked	autosomal dominant Opitz G/BBB syndrome	GenCC
Coronary artery disease	Coronary artery disease	GWAS
Acne	Acne	GWAS
Myocardial Infarction	Myocardial Infarction	GWAS

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text Mining
Anophthalmia plus syndrome	Associate	25412741
Bicornuate Uterus	Associate	32954677
Brain Neoplasms	Associate	33144287
Cleft Lip	Associate	32954677
Coloboma	Associate	32807111
Craniofacial Abnormalities	Associate	30472488
Fistula	Associate	30472488, 32954677
Genital Diseases Male	Associate	30472488
Hernia Diaphragmatic	Associate	30472488
Hernia Umbilical	Associate	30472488, 32954677
Hernias Diaphragmatic Congenital	Associate	32954677
Histiocytoma Benign Fibrous	Associate	29327718
Hypertelorism	Associate	32954677, 33811546
Hypertelorism with esophageal abnormality and hypospadias	Associate	25412741, 30472488, 32954677, 33811546
Laryngitis	Associate	30472488
Microphthalmia Syndromic 6	Associate	30472488
Nasopharyngeal Carcinoma	Associate	36412101
Neoplasms	Associate	31219820, 33144287
Niemann Pick Disease Type C	Associate	36412101
Oculomaxillofacial dysostosis	Associate	25412741, 30472488
Opitz GBBB Syndrome X Linked	Associate	30472488
Optic Nerve Hypoplasia	Associate	32807111
Sarcoma	Associate	33144287
Syndrome	Associate	30472488, 35205294
Uterine Didelphys	Associate	30472488

SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1 like)