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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55553
Gene name	SRY-box transcription factor 6
Gene symbol	SOX6
Synonyms (NCBI Gene)	HSSOX6SOXDTOLCAS
Chromosome	11
Chromosome location	11p15.2
Summary	This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The e

302

Show/Hide all (302)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004658	hsa-miR-499a-5p	Luciferase reporter assay	20081117
MIRT003203	hsa-miR-1-3p	Luciferase reporter assay	20081117
MIRT006113	hsa-miR-155-5p	Luciferase reporter assayqRT-PCRWestern blot	21989846
MIRT006113	hsa-miR-155-5p	Luciferase reporter assayqRT-PCRWestern blot	21989846
MIRT006113	hsa-miR-155-5p	Luciferase reporter assayqRT-PCRWestern blot	21989846
MIRT006113	hsa-miR-155-5p	Luciferase reporter assayqRT-PCRWestern blot	21989846
MIRT006113	hsa-miR-155-5p	Luciferase reporter assayqRT-PCRWestern blot	21989846
MIRT006113	hsa-miR-155-5p	Luciferase reporter assayqRT-PCRWestern blot	21989846
MIRT006113	hsa-miR-155-5p	Luciferase reporter assayqRT-PCRWestern blot	21989846
MIRT006113	hsa-miR-155-5p	Luciferase reporter assayqRT-PCRWestern blot	21989846
MIRT006113	hsa-miR-155-5p	Luciferase reporter assayqRT-PCRWestern blot	21989846
MIRT052901	hsa-miR-16-5p	Luciferase reporter assayqRT-PCRWestern blot	24852767
MIRT052901	hsa-miR-16-5p	Luciferase reporter assayqRT-PCRWestern blot	24852767
MIRT438545	hsa-miR-208a-3p	Luciferase reporter assayWestern blot	25023649
MIRT438545	hsa-miR-208a-3p	Luciferase reporter assayWestern blot	25023649
MIRT438545	hsa-miR-208a-3p	Luciferase reporter assayWestern blot	25023649
MIRT438545	hsa-miR-208a-3p	Luciferase reporter assayWestern blot	25023649
MIRT438545	hsa-miR-208a-3p	Luciferase reporter assayWestern blot	25023649
MIRT438545	hsa-miR-208a-3p	Luciferase reporter assayWestern blot	25023649
MIRT554050	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT554049	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT554048	hsa-miR-548n	PAR-CLIP	21572407
MIRT554047	hsa-miR-651-3p	PAR-CLIP	21572407
MIRT554046	hsa-miR-562	PAR-CLIP	21572407
MIRT554044	hsa-miR-3148	PAR-CLIP	21572407
MIRT554045	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT732043	hsa-miR-1269a	Luciferase reporter assayqRT-PCR	26692953
MIRT732043	hsa-miR-1269a	Luciferase reporter assayqRT-PCR	26692953
MIRT004658	hsa-miR-499a-5p	Luciferase reporter assayWestern blottingqRT-PCR	31938895
MIRT735531	hsa-miR-342-3p	Luciferase reporter assayqRT-PCRWestern blotting	31746345
MIRT736668	hsa-miR-17-3p	Luciferase reporter assayWestern blottingqRT-PCR	32946669
MIRT737252	hsa-miR-21-5p	Luciferase reporter assayWestern blottingqRT-PCR	32757994
MIRT554050	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT554049	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT554048	hsa-miR-548n	PAR-CLIP	21572407
MIRT554047	hsa-miR-651-3p	PAR-CLIP	21572407
MIRT554046	hsa-miR-562	PAR-CLIP	21572407
MIRT554044	hsa-miR-3148	PAR-CLIP	21572407
MIRT554045	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT756245	hsa-miR-23a-3p	Luciferase reporter assay	37372085
MIRT756255	hsa-miR-23b-3p	Luciferase reporter assay	37372085
MIRT1380641	hsa-let-7a	CLIP-seq
MIRT1380642	hsa-let-7b	CLIP-seq
MIRT1380643	hsa-let-7c	CLIP-seq
MIRT1380644	hsa-let-7d	CLIP-seq
MIRT1380645	hsa-let-7e	CLIP-seq
MIRT1380646	hsa-let-7f	CLIP-seq
MIRT1380647	hsa-let-7g	CLIP-seq
MIRT1380648	hsa-let-7i	CLIP-seq
MIRT1380649	hsa-miR-1202	CLIP-seq
MIRT1380650	hsa-miR-1207-3p	CLIP-seq
MIRT1380651	hsa-miR-1227	CLIP-seq
MIRT1380652	hsa-miR-1231	CLIP-seq
MIRT1380653	hsa-miR-1302	CLIP-seq
MIRT1380654	hsa-miR-132	CLIP-seq
MIRT1380655	hsa-miR-186	CLIP-seq
MIRT1380656	hsa-miR-1910	CLIP-seq
MIRT1380657	hsa-miR-19a	CLIP-seq
MIRT1380658	hsa-miR-19b	CLIP-seq
MIRT1380659	hsa-miR-202	CLIP-seq
MIRT1380660	hsa-miR-2117	CLIP-seq
MIRT1380661	hsa-miR-212	CLIP-seq
MIRT1380662	hsa-miR-3121-5p	CLIP-seq
MIRT1380663	hsa-miR-3133	CLIP-seq
MIRT1380664	hsa-miR-3138	CLIP-seq
MIRT1380665	hsa-miR-3194-5p	CLIP-seq
MIRT1380666	hsa-miR-3646	CLIP-seq
MIRT1380667	hsa-miR-375	CLIP-seq
MIRT1380668	hsa-miR-3972	CLIP-seq
MIRT1380669	hsa-miR-4273	CLIP-seq
MIRT1380670	hsa-miR-4298	CLIP-seq
MIRT1380671	hsa-miR-4458	CLIP-seq
MIRT1380672	hsa-miR-4500	CLIP-seq
MIRT1380673	hsa-miR-4520a-3p	CLIP-seq
MIRT1380674	hsa-miR-455-5p	CLIP-seq
MIRT1380675	hsa-miR-4642	CLIP-seq
MIRT1380676	hsa-miR-4677-5p	CLIP-seq
MIRT1380677	hsa-miR-4711-5p	CLIP-seq
MIRT1380678	hsa-miR-4744	CLIP-seq
MIRT1380679	hsa-miR-4773	CLIP-seq
MIRT1380680	hsa-miR-4782-5p	CLIP-seq
MIRT1380681	hsa-miR-4800-5p	CLIP-seq
MIRT1380682	hsa-miR-526b	CLIP-seq
MIRT1380683	hsa-miR-576-3p	CLIP-seq
MIRT1380684	hsa-miR-654-3p	CLIP-seq
MIRT1380685	hsa-miR-98	CLIP-seq
MIRT1380686	hsa-miR-223	CLIP-seq
MIRT1380687	hsa-miR-3121-3p	CLIP-seq
MIRT1380688	hsa-miR-3163	CLIP-seq
MIRT1380689	hsa-miR-338-3p	CLIP-seq
MIRT1380690	hsa-miR-34b	CLIP-seq
MIRT1380691	hsa-miR-34c-3p	CLIP-seq
MIRT1380692	hsa-miR-382	CLIP-seq
MIRT1380693	hsa-miR-4668-3p	CLIP-seq
MIRT1380694	hsa-miR-4672	CLIP-seq
MIRT1380695	hsa-miR-4697-3p	CLIP-seq
MIRT1380696	hsa-miR-4768-3p	CLIP-seq
MIRT1380697	hsa-miR-494	CLIP-seq
MIRT1380649	hsa-miR-1202	CLIP-seq
MIRT1380650	hsa-miR-1207-3p	CLIP-seq
MIRT1380698	hsa-miR-1207-5p	CLIP-seq
MIRT1380651	hsa-miR-1227	CLIP-seq
MIRT1380653	hsa-miR-1302	CLIP-seq
MIRT1380699	hsa-miR-208a	CLIP-seq
MIRT1380700	hsa-miR-208b	CLIP-seq
MIRT1380701	hsa-miR-3177-5p	CLIP-seq
MIRT1380665	hsa-miR-3194-5p	CLIP-seq
MIRT1380702	hsa-miR-3658	CLIP-seq
MIRT1380668	hsa-miR-3972	CLIP-seq
MIRT1380703	hsa-miR-4269	CLIP-seq
MIRT1380670	hsa-miR-4298	CLIP-seq
MIRT1380704	hsa-miR-4432	CLIP-seq
MIRT1380705	hsa-miR-4514	CLIP-seq
MIRT1380674	hsa-miR-455-5p	CLIP-seq
MIRT1380706	hsa-miR-4692	CLIP-seq
MIRT1380707	hsa-miR-4742-5p	CLIP-seq
MIRT1380708	hsa-miR-4763-3p	CLIP-seq
MIRT1380709	hsa-miR-499-5p	CLIP-seq
MIRT1380710	hsa-miR-548v	CLIP-seq
MIRT1380683	hsa-miR-576-3p	CLIP-seq
MIRT1380711	hsa-miR-940	CLIP-seq
MIRT1380712	hsa-miR-1179	CLIP-seq
MIRT1380689	hsa-miR-338-3p	CLIP-seq
MIRT1380713	hsa-miR-4310	CLIP-seq
MIRT1380697	hsa-miR-494	CLIP-seq
MIRT1380714	hsa-miR-548m	CLIP-seq
MIRT1380715	hsa-miR-634	CLIP-seq
MIRT1380641	hsa-let-7a	CLIP-seq
MIRT1380642	hsa-let-7b	CLIP-seq
MIRT1380643	hsa-let-7c	CLIP-seq
MIRT1380644	hsa-let-7d	CLIP-seq
MIRT1380645	hsa-let-7e	CLIP-seq
MIRT1380646	hsa-let-7f	CLIP-seq
MIRT1380647	hsa-let-7g	CLIP-seq
MIRT1380648	hsa-let-7i	CLIP-seq
MIRT1380659	hsa-miR-202	CLIP-seq
MIRT1380687	hsa-miR-3121-3p	CLIP-seq
MIRT1380666	hsa-miR-3646	CLIP-seq
MIRT1380671	hsa-miR-4458	CLIP-seq
MIRT1380672	hsa-miR-4500	CLIP-seq
MIRT1380682	hsa-miR-526b	CLIP-seq
MIRT1380685	hsa-miR-98	CLIP-seq
MIRT2113971	hsa-miR-1290	CLIP-seq
MIRT2113972	hsa-miR-1343	CLIP-seq
MIRT2113973	hsa-miR-2113	CLIP-seq
MIRT1380686	hsa-miR-223	CLIP-seq
MIRT2113974	hsa-miR-3140-3p	CLIP-seq
MIRT2113975	hsa-miR-3150b-3p	CLIP-seq
MIRT2113976	hsa-miR-335	CLIP-seq
MIRT2113977	hsa-miR-3941	CLIP-seq
MIRT2113978	hsa-miR-3976	CLIP-seq
MIRT1380669	hsa-miR-4273	CLIP-seq
MIRT2113979	hsa-miR-4450	CLIP-seq
MIRT2113980	hsa-miR-4476	CLIP-seq
MIRT2113981	hsa-miR-450b-5p	CLIP-seq
MIRT2113982	hsa-miR-4667-5p	CLIP-seq
MIRT1380676	hsa-miR-4677-5p	CLIP-seq
MIRT2113983	hsa-miR-4693-3p	CLIP-seq
MIRT1380695	hsa-miR-4697-3p	CLIP-seq
MIRT2113984	hsa-miR-4698	CLIP-seq
MIRT2113985	hsa-miR-4700-5p	CLIP-seq
MIRT2113986	hsa-miR-4784	CLIP-seq
MIRT2113987	hsa-miR-485-3p	CLIP-seq
MIRT2113988	hsa-miR-507	CLIP-seq
MIRT2113989	hsa-miR-520f	CLIP-seq
MIRT2113990	hsa-miR-539	CLIP-seq
MIRT2113991	hsa-miR-557	CLIP-seq
MIRT2113992	hsa-miR-574-5p	CLIP-seq
MIRT1380641	hsa-let-7a	CLIP-seq
MIRT1380642	hsa-let-7b	CLIP-seq
MIRT1380643	hsa-let-7c	CLIP-seq
MIRT1380644	hsa-let-7d	CLIP-seq
MIRT1380645	hsa-let-7e	CLIP-seq
MIRT1380646	hsa-let-7f	CLIP-seq
MIRT1380647	hsa-let-7g	CLIP-seq
MIRT1380648	hsa-let-7i	CLIP-seq
MIRT2336924	hsa-miR-1200	CLIP-seq
MIRT2336925	hsa-miR-1206	CLIP-seq
MIRT2336926	hsa-miR-128	CLIP-seq
MIRT2336927	hsa-miR-1297	CLIP-seq
MIRT1380654	hsa-miR-132	CLIP-seq
MIRT2336928	hsa-miR-142-3p	CLIP-seq
MIRT2336929	hsa-miR-15a	CLIP-seq
MIRT2336930	hsa-miR-15b	CLIP-seq
MIRT2336931	hsa-miR-16	CLIP-seq
MIRT1380656	hsa-miR-1910	CLIP-seq
MIRT2336932	hsa-miR-195	CLIP-seq
MIRT1380659	hsa-miR-202	CLIP-seq
MIRT1380661	hsa-miR-212	CLIP-seq
MIRT2336933	hsa-miR-2355-5p	CLIP-seq
MIRT2336934	hsa-miR-23a	CLIP-seq
MIRT2336935	hsa-miR-23b	CLIP-seq
MIRT2336936	hsa-miR-23c	CLIP-seq
MIRT2336937	hsa-miR-2467-5p	CLIP-seq
MIRT2336938	hsa-miR-2682	CLIP-seq
MIRT2336939	hsa-miR-26a	CLIP-seq
MIRT2336940	hsa-miR-26b	CLIP-seq
MIRT2336941	hsa-miR-27a	CLIP-seq
MIRT2336942	hsa-miR-27b	CLIP-seq
MIRT2336943	hsa-miR-3117-5p	CLIP-seq
MIRT1380687	hsa-miR-3121-3p	CLIP-seq
MIRT2336944	hsa-miR-3132	CLIP-seq
MIRT2336945	hsa-miR-3135b	CLIP-seq
MIRT2113975	hsa-miR-3150b-3p	CLIP-seq
MIRT2336946	hsa-miR-3188	CLIP-seq
MIRT2336947	hsa-miR-3194-3p	CLIP-seq
MIRT2336948	hsa-miR-320e	CLIP-seq
MIRT2336949	hsa-miR-330-3p	CLIP-seq
MIRT2113976	hsa-miR-335	CLIP-seq
MIRT2336950	hsa-miR-338-5p	CLIP-seq
MIRT1380666	hsa-miR-3646	CLIP-seq
MIRT2336951	hsa-miR-3691-3p	CLIP-seq
MIRT1380667	hsa-miR-375	CLIP-seq
MIRT2336952	hsa-miR-3921	CLIP-seq
MIRT2336953	hsa-miR-3942-3p	CLIP-seq
MIRT2336954	hsa-miR-3942-5p	CLIP-seq
MIRT2336955	hsa-miR-3975	CLIP-seq
MIRT2336956	hsa-miR-421	CLIP-seq
MIRT2336957	hsa-miR-424	CLIP-seq
MIRT1380703	hsa-miR-4269	CLIP-seq
MIRT2336958	hsa-miR-4272	CLIP-seq
MIRT2336959	hsa-miR-4282	CLIP-seq
MIRT2336960	hsa-miR-4451	CLIP-seq
MIRT1380671	hsa-miR-4458	CLIP-seq
MIRT2336961	hsa-miR-4465	CLIP-seq
MIRT2336962	hsa-miR-449c	CLIP-seq
MIRT1380672	hsa-miR-4500	CLIP-seq
MIRT2336963	hsa-miR-4504	CLIP-seq
MIRT1380705	hsa-miR-4514	CLIP-seq
MIRT2336964	hsa-miR-4649-3p	CLIP-seq
MIRT2336965	hsa-miR-4653-5p	CLIP-seq
MIRT2336966	hsa-miR-4659a-3p	CLIP-seq
MIRT2336967	hsa-miR-4659b-3p	CLIP-seq
MIRT2336968	hsa-miR-4666-3p	CLIP-seq
MIRT1380694	hsa-miR-4672	CLIP-seq
MIRT1380706	hsa-miR-4692	CLIP-seq
MIRT2113983	hsa-miR-4693-3p	CLIP-seq
MIRT2113984	hsa-miR-4698	CLIP-seq
MIRT2336969	hsa-miR-4703-3p	CLIP-seq
MIRT2336970	hsa-miR-4703-5p	CLIP-seq
MIRT2336971	hsa-miR-4704-5p	CLIP-seq
MIRT2336972	hsa-miR-4709-5p	CLIP-seq
MIRT2336973	hsa-miR-4715-3p	CLIP-seq
MIRT1380707	hsa-miR-4742-5p	CLIP-seq
MIRT2336974	hsa-miR-4775	CLIP-seq
MIRT2336975	hsa-miR-4779	CLIP-seq
MIRT2113986	hsa-miR-4784	CLIP-seq
MIRT2336976	hsa-miR-485-5p	CLIP-seq
MIRT1380697	hsa-miR-494	CLIP-seq
MIRT2336977	hsa-miR-497	CLIP-seq
MIRT2336978	hsa-miR-498	CLIP-seq
MIRT2336979	hsa-miR-505	CLIP-seq
MIRT1380682	hsa-miR-526b	CLIP-seq
MIRT2336980	hsa-miR-548p	CLIP-seq
MIRT2336981	hsa-miR-548u	CLIP-seq
MIRT1380710	hsa-miR-548v	CLIP-seq
MIRT2113992	hsa-miR-574-5p	CLIP-seq
MIRT2336982	hsa-miR-607	CLIP-seq
MIRT1380715	hsa-miR-634	CLIP-seq
MIRT2336983	hsa-miR-765	CLIP-seq
MIRT1380711	hsa-miR-940	CLIP-seq
MIRT1380685	hsa-miR-98	CLIP-seq
MIRT2460298	hsa-miR-1275	CLIP-seq
MIRT2460299	hsa-miR-3183	CLIP-seq
MIRT2460300	hsa-miR-326	CLIP-seq
MIRT2460301	hsa-miR-330-5p	CLIP-seq
MIRT2460302	hsa-miR-3943	CLIP-seq
MIRT2460303	hsa-miR-4271	CLIP-seq
MIRT2460304	hsa-miR-4525	CLIP-seq
MIRT2460305	hsa-miR-4665-5p	CLIP-seq
MIRT2113982	hsa-miR-4667-5p	CLIP-seq
MIRT2113983	hsa-miR-4693-3p	CLIP-seq
MIRT2113985	hsa-miR-4700-5p	CLIP-seq
MIRT2460306	hsa-miR-4723-3p	CLIP-seq
MIRT2460307	hsa-miR-4723-5p	CLIP-seq
MIRT2460308	hsa-miR-4725-3p	CLIP-seq
MIRT2113990	hsa-miR-539	CLIP-seq
MIRT2113992	hsa-miR-574-5p	CLIP-seq
MIRT1380683	hsa-miR-576-3p	CLIP-seq
MIRT2460309	hsa-miR-625	CLIP-seq
MIRT2460310	hsa-miR-637	CLIP-seq
MIRT2460311	hsa-miR-671-5p	CLIP-seq
MIRT2460298	hsa-miR-1275	CLIP-seq
MIRT2460299	hsa-miR-3183	CLIP-seq
MIRT2460300	hsa-miR-326	CLIP-seq
MIRT2460301	hsa-miR-330-5p	CLIP-seq
MIRT2460302	hsa-miR-3943	CLIP-seq
MIRT2460303	hsa-miR-4271	CLIP-seq
MIRT2460304	hsa-miR-4525	CLIP-seq
MIRT2460305	hsa-miR-4665-5p	CLIP-seq
MIRT2113982	hsa-miR-4667-5p	CLIP-seq
MIRT2113985	hsa-miR-4700-5p	CLIP-seq
MIRT2460306	hsa-miR-4723-3p	CLIP-seq
MIRT2460307	hsa-miR-4723-5p	CLIP-seq
MIRT2460308	hsa-miR-4725-3p	CLIP-seq
MIRT2460309	hsa-miR-625	CLIP-seq
MIRT2460310	hsa-miR-637	CLIP-seq
MIRT2460311	hsa-miR-671-5p	CLIP-seq
MIRT2630410	hsa-miR-3074-5p	CLIP-seq
MIRT2630411	hsa-miR-3136-3p	CLIP-seq
MIRT2630410	hsa-miR-3074-5p	CLIP-seq
MIRT2630411	hsa-miR-3136-3p	CLIP-seq

Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	26525805
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001217	Function	DNA-binding transcription repressor activity	ISS
GO:0001502	Process	Cartilage condensation	ISS
GO:0002062	Process	Chondrocyte differentiation	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	NAS	1614875
GO:0003700	Function	DNA-binding transcription factor activity	IMP	32442410
GO:0003700	Function	DNA-binding transcription factor activity	NAS	1614875
GO:0005515	Function	Protein binding	IPI	21262861
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IMP	32442410
GO:0005634	Component	Nucleus	NAS	1614875
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	1614875
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007417	Process	Central nervous system development	IBA
GO:0007420	Process	Brain development	IDA	32442410
GO:0007517	Process	Muscle organ development	NAS	11255018
GO:0021529	Process	Spinal cord oligodendrocyte cell differentiation	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0032332	Process	Positive regulation of chondrocyte differentiation	IBA
GO:0032332	Process	Positive regulation of chondrocyte differentiation	IDA	21401405
GO:0042803	Function	Protein homodimerization activity	IMP	32442410
GO:0045165	Process	Cell fate commitment	IBA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0051216	Process	Cartilage development	ISS
GO:0061036	Process	Positive regulation of cartilage development	IDA	21401405
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IDA	21401405
GO:2000726	Process	Negative regulation of cardiac muscle cell differentiation	IMP	20081117
GO:2000741	Process	Positive regulation of mesenchymal stem cell differentiation	IDA	21401405

MIM	HGNC	e!Ensembl
607257	16421	ENSG00000110693

P35712

Protein name

Transcription factor SOX-6

Protein function

Transcription factor that plays a key role in several developmental processes, including neurogenesis, chondrocytes differentiation and cartilage formation (Probable). Specifically binds the 5'-AACAAT-3' DNA motif present in enhancers and super-

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00505	HMG_box	621 → 689	HMG (high mobility group) box	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in a wide variety of tissues, most abundantly in skeletal musclen. {ECO:0000269|PubMed:11255018}.

Sequence

MSSKQATSPFACAADGEDAMTQDLTSREKEEGSDQHVASHLPLHPIMHNKPHSEELPTLV
STIQQDADWDSVLSSQQRMESENNKLCSLYSFRNTSTSPHKPDEGSRDREIMTSVTFGTP
ERRKGSLADVVDTLKQKKLEEMTRTEQEDSSCMEKLLSKDWKEKMERLNTSELLGEIKGT
PESLAEKERQLSTMITQLISLREQLLAAHDEQKKLAASQIEKQRQQMDLARQQQEQIARQ
QQQLLQQQHKINLLQQQIQVQGHMPPLMIPIFPHDQRTLAAAAAAQQGFLFPPGITYKPG
DNYPVQFIPSTMAAAAASGLSPLQLQKGHVSHPQINQRLKGLSDRFGRNLDTFEHGGGHS
YNHKQIEQLYAAQLASMQVSPGAKMPSTPQPPNTAGTVSPTGIKNEKRGTSPVTQVKDEA
AAQPLNLSSRPKTAEPVKSPTSPTQNLFPASKTSPVNLPNKSSIPSPIGGSLGRGSSLDI
LSSLNSPALFGDQDTVMKAIQEARKMREQIQREQQQQQPHGVDGKLSSINNMGLNSCRNE
KERTRFENLGPQLTGKSNEDGKLGPGVIDLTRPEDAEGSKAMNGSAAKLQQYYCWPTGGA
TVAEARVYRDARGRASSEPHIKRPMNAFMVWAKDERRKILQAFPDMHNSNISKILGSRWK
SMSNQEKQPYYEEQARLSKIHLEKYPNYKYKPRPKRTCIVDGKKLRIGEYKQLMRSRRQE
MRQFFTVGQQPQIPITTGTGVVYPGAITMATTTPSPQMTSDCSSTSASPEPSLPVIQSTY
GMKTDGGSLAGNEMINGEDEMEMYDDYEDDPKSDYSSENEAPEAVSAN

Sequence length

828

Interactions

View interactions

	Reactome
			Deactivation of the beta-catenin transactivating complex

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Craniosynostosis syndrome	Pathogenic	rs1855823129	RCV005626369	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs1849236698	RCV001254915	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs2134302287, rs2119819668, rs2119818229	RCV001374999 RCV001780035 RCV002272844	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tolchin-Le Caignec syndrome	Pathogenic; Likely pathogenic	rs2119818223, rs376018780, rs2133975843, rs2494128054, rs2493954647, rs2494155968, rs2493971978, rs2494128138, rs1554941241, rs1855823129, rs1853958124, rs1853841874	RCV003336421 RCV003883181 RCV002272978 RCV002283629 RCV003123274 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (24)

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.
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRACTURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	CTD, ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALIZED ANXIETY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SOX6-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ 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 (101)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	30833651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31729835		★★★★★ ★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	30994600		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	29074889, 29333458	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	29333458		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	26868133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	26868133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	32442410	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	31609809		★★★★★ ★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	28941328, 29333458, 30010219		★★★★★ ★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	29333458, 35577924	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	28941328, 30010219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	21625884	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	BEFREE	30902252		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30580904, 31729835		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34868396, 37103094	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36595751	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28475012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	26868133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	20966410	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	26973327	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	36804377	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	25634111		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostoses	Craniosynostosis	Pubtator	32442410	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	16258006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	31302420		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	32088305	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	27622494, 32442410, 36069193	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31118273		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31118273, 31506178		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	26868133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	31746345		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	25439488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	29983692, 36069193	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	30690078		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	21084391		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	21084391		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	24852767, 25023649, 33416035, 33432363	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Extraskeletal Myxoid Chondrosarcoma	Extraskeletal Myxoid Chondrosarcoma	BEFREE	30690078		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroparesis	Gastroparesis	BEFREE	29031500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	32388501	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	15696967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	19728337		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	30833651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	17537234	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	19714249	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	17412698		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	32442410, 36069193	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LAMB-SHAFFER SYNDROME	LAMB-SHAFFER SYNDROME	BEFREE	30902252		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	30833651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	30833651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23731550, 28892647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	30580904, 31729835	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	33432363	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29942085		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	30690078		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	21084391		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30580904, 31729835		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28475012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29369542		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	29355560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31356865, 31729835		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	31845298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	31845298	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	29857961, 30098430		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	GWASCAT_DG	29942085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	25439488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya disease	Pubtator	35368875	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	31105792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	38062424	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	28475012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	30833651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	33797657	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21084391, 23731550, 26119940, 26501866, 28475012, 29355560, 29369542, 29512775, 30580904		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	30911317		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	36069193	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30070324		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	19714249, 26893351, 30062780		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	GWASCAT_DG	19714249		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	19714249, 21976109	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis	Osteoarthritis	Pubtator	16735197	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	26973327, 31302420	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondroma	Osteochondroma	Pubtator	32442410	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	19714249, 20101412, 21625884, 30062780		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	GWASCAT_DG	19714249		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	Pubtator	19714249, 21625884, 25132170, 32187136, 32952123, 35373860	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	BEFREE	29512775		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28475012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29369542		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31845298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	31845298, 37108456	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29355560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Salivary Gland Adenoma Pleomorphic	Salivary gland disease	Pubtator	26501866	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	22983435		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	36069193	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	21084391, 24852767, 25023649, 28475012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	39739965	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Syringomyelia	Syringomyelia	BEFREE	24453155		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tremor	Tremor	Pubtator	36069193	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SOX6 (SRY-box transcription factor 6)