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

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 (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal dominant Opitz G/BBB syndrome	Likely pathogenic	rs1556226291, rs1601294872	RCV000677691 RCV001027683	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oculomaxillofacial dysostosis	Pathogenic	rs387907108	RCV000024097	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPECC1L-related syndrome	Likely pathogenic; Pathogenic	rs1555874726	RCV001270753	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Teebi hypertelorism syndrome	Pathogenic; Likely pathogenic	rs786201030, rs1555874726, rs1569420568, rs1569420590, rs1569438496, rs1569420537, rs1569420596, rs111653895, rs1601294872	RCV000754995 RCV000755001 RCV000754996 RCV000754997 RCV000755000 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Teebi hypertelorism syndrome 1	Pathogenic; Likely pathogenic	rs2040735453, rs786201030, rs1555874726, rs1569420568, rs1569420590, rs111653895	RCV002221427 RCV002221206 RCV002221238 RCV002221246 RCV002221247 RCV002221251 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (15)

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.
COMMISSURAL FACIAL CLEFT	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis syndrome	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOCUTANEOUS LYMPH NODE SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPECC1L-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TEEBI SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESSIER NUMBER 4 FACIAL CLEFT	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESSIER NUMBER 7 FACIAL CLEFT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (77)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	33144287	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	32954677	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coloboma	Coloboma	Pubtator	32807111	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of the kidney	Multicystic renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniofacial Abnormalities	Craniofacial abnormalities	Pubtator	30472488	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	21703590		★★★★★ ★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	25412741		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectopic kidney	Ectopic kidney	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Female Pseudohermaphroditism	Female Pseudohermaphroditism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder, Agenesis Of	Agenesis Of Gallbladder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hiatal Hernia	Hiatal Hernia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	25412741		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Laryngeal cleft	Laryngeal cleft	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngitis	Laryngitis	Pubtator	30472488	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	ORPHANET_DG	21703590		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmia Syndromic 6	Microphthalmia	Pubtator	30472488	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	36412101	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29327718		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculomaxillofacial dysostosis	Oculomaxillofacial Dysostosis	UNIPROT_DG	21703590		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oculomaxillofacial dysostosis	Oculomaxillofacial Dysostosis	GENOMICS_ENGLAND_DG	21703590, 25412741, 26111080		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oculomaxillofacial dysostosis	Oculomaxillofacial Dysostosis	ORPHANET_DG	21703590		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oculomaxillofacial dysostosis	Oculomaxillofacial Dysostosis	BEFREE	25412741, 30472488		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oculomaxillofacial dysostosis	Oculomaxillofacial Dysostosis	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oculomaxillofacial dysostosis	Oculomaxillofacial Dysostosis	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Opitz GBBB Syndrome, X-Linked	Opitz GBBB Syndrome, X-Linked	BEFREE	30472488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Opitz-G syndrome, type 2	Opitz GBBB syndrome	GENOMICS_ENGLAND_DG	25412741, 26111080		★★★★★ ★☆☆☆☆ Found in Text Mining only
Opitz-G syndrome, type 2	Opitz GBBB syndrome	UNIPROT_DG	25412741		★★★★★ ★☆☆☆☆ Found in Text Mining only
Opitz-G syndrome, type 2	Opitz GBBB syndrome	ORPHANET_DG	25412741		★★★★★ ★☆☆☆☆ Found in Text Mining only
Opitz-G syndrome, type 2	Opitz GBBB syndrome	BEFREE	26111080, 30472488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Opitz-G syndrome, type 2	Opitz GBBB syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Opitz-G syndrome, type 2	Opitz GBBB syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oral cleft	Oral cleft	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	33144287	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spade-like hand	Spade-Like Hand	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SPECC1L-related hypertelorism syndrome	Hypertelorism Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Teebi syndrome	Teebi Syndrome	BEFREE	26111080		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Teebi syndrome	Teebi Syndrome	GENOMICS_ENGLAND_DG	26111080		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Teebi syndrome	Teebi Syndrome	ORPHANET_DG	26111080		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Teebi syndrome	Teebi Syndrome	UNIPROT_DG	26111080		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Teebi syndrome	Teebi Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

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