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	23384
Gene name	Sperm antigen with calponin homology and coiled-coil domains 1 like
Gene symbol	SPECC1L
Synonyms (NCBI Gene)	CYTSAGBBB2OBLFC1TBHSTBHS1
Chromosome	22
Chromosome location	22q11.23
Summary	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 (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	28514442, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005815	Component	Microtubule organizing center	IBA
GO:0005815	Component	Microtubule organizing center	IEA
GO:0005819	Component	Spindle	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005911	Component	Cell-cell junction	IEA
GO:0005921	Component	Gap junction	IEA
GO:0007026	Process	Negative regulation of microtubule depolymerization	IEA
GO:0007155	Process	Cell adhesion	IDA	21703590
GO:0008013	Function	Beta-catenin binding	IEA
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0016477	Process	Cell migration	IEA
GO:0030036	Process	Actin cytoskeleton organization	IBA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030835	Process	Negative regulation of actin filament depolymerization	IEA
GO:0031941	Component	Filamentous actin	IBA
GO:0031941	Component	Filamentous actin	IEA
GO:0034332	Process	Adherens junction organization	IEA
GO:0036032	Process	Neural crest cell delamination	IEA
GO:0051301	Process	Cell division	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0061713	Process	Anterior neural tube closure	IEA
GO:0070161	Component	Anchoring junction	IEA

MIM	HGNC	e!Ensembl
614140	29022	ENSG00000100014

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

127

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal dominant Opitz G/BBB syndrome	Likely pathogenic	rs1556226291, rs1601294872	RCV000677691 RCV001027683
Oculomaxillofacial dysostosis	Pathogenic	rs387907108	RCV000024097
SPECC1L-related syndrome	Likely pathogenic; Pathogenic	rs1555874726	RCV001270753
Teebi hypertelorism syndrome	Pathogenic; Likely pathogenic	rs786201030, rs1555874726, rs1569420568, rs1569420590, rs1569438496, rs1569420537, rs1569420596, rs111653895, rs1601294872	RCV000754995 RCV000755001 RCV000754996 RCV000754997 RCV000755000 RCV000710291 RCV000710292 RCV000787310 RCV001027683
Teebi hypertelorism syndrome 1	Pathogenic; Likely pathogenic	rs2040735453, rs786201030, rs1555874726, rs1569420568, rs1569420590, rs111653895	RCV002221427 RCV002221206 RCV002221238 RCV002221246 RCV002221247 RCV002221251

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Craniosynostosis syndrome	Uncertain significance; Conflicting classifications of pathogenicity	rs1601553546, rs140698674	RCV000984627 RCV000985265
Intellectual disability	Conflicting classifications of pathogenicity	rs200870836, rs190313411	RCV001775472 RCV005626759
Prostate cancer	Uncertain significance	rs193920978	RCV000149071
See cases	Uncertain significance	rs754533880	RCV004584513
SPECC1L-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs139167350, rs2146477777, rs56112030, rs62233134, rs143004795, rs144546045, rs747047404, rs575022840, rs2517609406, rs2517654341, rs2517845382, rs1178766585, rs2517653749, rs1423862723, rs2517652091 View all (27 more)	RCV003973214 RCV003394248 RCV003931350 RCV003931351 RCV003926305 RCV004753495 RCV003395690 RCV003410276 RCV003391408 RCV003402459 RCV003391641 RCV003400277 RCV003418977 RCV003404604 RCV003414426 RCV004753726 RCV003898937 RCV003898979 RCV003904450 RCV003913878 RCV003914083 RCV003934517 RCV003947197 RCV003942219 RCV003392435 RCV003925943 RCV003915820 RCV003943199 RCV003960848 RCV003968035 RCV003955866 RCV004753067 RCV003955799 RCV003930601 RCV003940819 RCV003983264 RCV003950548 RCV003912954 RCV003968357 RCV003970524 RCV003970629 RCV003942918

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)