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	8848
Gene name	TSC22 domain family member 1
Gene symbol	TSC22D1
Synonyms (NCBI Gene)	HUCEP-2Ptg-2TGFB1I4TSC22
Chromosome	13
Chromosome location	13q14.11
Summary	This gene encodes a member of the TSC22 domain family of leucine zipper transcription factors. The encoded protein is stimulated by transforming growth factor beta, and regulates the transcription of multiple genes including C-type natriuretic peptide. Th

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miRTarBase ID	miRNA	Experiments	Reference
MIRT048416	hsa-miR-100-5p	CLASH	23622248
MIRT486481	hsa-miR-6758-5p	PAR-CLIP	23592263
MIRT486482	hsa-miR-6856-5p	PAR-CLIP	23592263
MIRT486480	hsa-miR-28-5p	PAR-CLIP	23592263
MIRT486479	hsa-miR-3139	PAR-CLIP	23592263
MIRT486478	hsa-miR-708-5p	PAR-CLIP	23592263
MIRT486477	hsa-miR-1825	PAR-CLIP	23592263
MIRT486476	hsa-miR-199a-5p	PAR-CLIP	23592263
MIRT486475	hsa-miR-199b-5p	PAR-CLIP	23592263
MIRT486474	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT486473	hsa-miR-4784	PAR-CLIP	23592263
MIRT486472	hsa-miR-4689	PAR-CLIP	23592263
MIRT486471	hsa-miR-6858-5p	PAR-CLIP	23592263
MIRT441495	hsa-miR-590-3p	PAR-CLIP	22100165
MIRT441494	hsa-miR-9-3p	PAR-CLIP	22100165
MIRT441495	hsa-miR-590-3p	PAR-CLIP	22100165
MIRT441494	hsa-miR-9-3p	PAR-CLIP	22100165
MIRT486481	hsa-miR-6758-5p	PAR-CLIP	23592263
MIRT486482	hsa-miR-6856-5p	PAR-CLIP	23592263
MIRT486480	hsa-miR-28-5p	PAR-CLIP	23592263
MIRT486479	hsa-miR-3139	PAR-CLIP	23592263
MIRT486478	hsa-miR-708-5p	PAR-CLIP	23592263
MIRT486477	hsa-miR-1825	PAR-CLIP	23592263
MIRT486476	hsa-miR-199a-5p	PAR-CLIP	23592263
MIRT486475	hsa-miR-199b-5p	PAR-CLIP	23592263
MIRT486474	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT486473	hsa-miR-4784	PAR-CLIP	23592263
MIRT486472	hsa-miR-4689	PAR-CLIP	23592263
MIRT486471	hsa-miR-6858-5p	PAR-CLIP	23592263
MIRT441495	hsa-miR-590-3p	PAR-CLIP	22100165
MIRT441494	hsa-miR-9-3p	PAR-CLIP	22100165
MIRT441495	hsa-miR-590-3p	PAR-CLIP	22100165
MIRT441494	hsa-miR-9-3p	PAR-CLIP	22100165
MIRT1458131	hsa-miR-125a-3p	CLIP-seq
MIRT1458132	hsa-miR-1284	CLIP-seq
MIRT1458133	hsa-miR-190	CLIP-seq
MIRT1458134	hsa-miR-190b	CLIP-seq
MIRT1458135	hsa-miR-3689a-5p	CLIP-seq
MIRT1458136	hsa-miR-3689b	CLIP-seq
MIRT1458137	hsa-miR-3689e	CLIP-seq
MIRT1458138	hsa-miR-3689f	CLIP-seq
MIRT1458139	hsa-miR-410	CLIP-seq
MIRT1458140	hsa-miR-448	CLIP-seq
MIRT1458141	hsa-miR-4639-3p	CLIP-seq
MIRT1458142	hsa-miR-494	CLIP-seq
MIRT1458143	hsa-miR-552	CLIP-seq
MIRT1458144	hsa-miR-586	CLIP-seq
MIRT1458145	hsa-miR-606	CLIP-seq
MIRT1458146	hsa-miR-668	CLIP-seq
MIRT1458147	hsa-miR-1227	CLIP-seq
MIRT1458148	hsa-miR-1228	CLIP-seq
MIRT1458149	hsa-miR-1244	CLIP-seq
MIRT1458150	hsa-miR-1262	CLIP-seq
MIRT1458151	hsa-miR-1324	CLIP-seq
MIRT1458152	hsa-miR-134	CLIP-seq
MIRT1458153	hsa-miR-1827	CLIP-seq
MIRT1458154	hsa-miR-1910	CLIP-seq
MIRT1458155	hsa-miR-203	CLIP-seq
MIRT1458156	hsa-miR-205	CLIP-seq
MIRT1458157	hsa-miR-214	CLIP-seq
MIRT1458158	hsa-miR-300	CLIP-seq
MIRT1458159	hsa-miR-3118	CLIP-seq
MIRT1458160	hsa-miR-3121-3p	CLIP-seq
MIRT1458161	hsa-miR-3163	CLIP-seq
MIRT1458162	hsa-miR-3174	CLIP-seq
MIRT1458163	hsa-miR-338-5p	CLIP-seq
MIRT1458164	hsa-miR-3605-3p	CLIP-seq
MIRT1458165	hsa-miR-3609	CLIP-seq
MIRT1458166	hsa-miR-3612	CLIP-seq
MIRT1458167	hsa-miR-3619-5p	CLIP-seq
MIRT1458168	hsa-miR-3664-5p	CLIP-seq
MIRT1458169	hsa-miR-3668	CLIP-seq
MIRT1458170	hsa-miR-3679-3p	CLIP-seq
MIRT1458171	hsa-miR-3682-5p	CLIP-seq
MIRT1458172	hsa-miR-381	CLIP-seq
MIRT1458173	hsa-miR-3908	CLIP-seq
MIRT1458174	hsa-miR-3909	CLIP-seq
MIRT1458175	hsa-miR-3917	CLIP-seq
MIRT1458176	hsa-miR-3924	CLIP-seq
MIRT1458177	hsa-miR-3935	CLIP-seq
MIRT1458178	hsa-miR-3941	CLIP-seq
MIRT1458179	hsa-miR-3942-3p	CLIP-seq
MIRT1458139	hsa-miR-410	CLIP-seq
MIRT1458180	hsa-miR-4267	CLIP-seq
MIRT1458181	hsa-miR-4272	CLIP-seq
MIRT1458182	hsa-miR-4276	CLIP-seq
MIRT1458183	hsa-miR-4281	CLIP-seq
MIRT1458184	hsa-miR-4287	CLIP-seq
MIRT1458185	hsa-miR-4291	CLIP-seq
MIRT1458186	hsa-miR-4318	CLIP-seq
MIRT1458187	hsa-miR-4328	CLIP-seq
MIRT1458188	hsa-miR-4330	CLIP-seq
MIRT1458189	hsa-miR-4443	CLIP-seq
MIRT1458190	hsa-miR-4449	CLIP-seq
MIRT1458191	hsa-miR-4469	CLIP-seq
MIRT1458192	hsa-miR-4474-5p	CLIP-seq
MIRT1458140	hsa-miR-448	CLIP-seq
MIRT1458193	hsa-miR-4480	CLIP-seq
MIRT1458194	hsa-miR-4506	CLIP-seq
MIRT1458195	hsa-miR-4645-3p	CLIP-seq
MIRT1458196	hsa-miR-466	CLIP-seq
MIRT1458197	hsa-miR-4666-3p	CLIP-seq
MIRT1458198	hsa-miR-4672	CLIP-seq
MIRT1458199	hsa-miR-4680-5p	CLIP-seq
MIRT1458200	hsa-miR-4685-3p	CLIP-seq
MIRT1458201	hsa-miR-4686	CLIP-seq
MIRT1458202	hsa-miR-4699-3p	CLIP-seq
MIRT1458203	hsa-miR-4701-3p	CLIP-seq
MIRT1458204	hsa-miR-4704-5p	CLIP-seq
MIRT1458205	hsa-miR-4713-5p	CLIP-seq
MIRT1458206	hsa-miR-4714-3p	CLIP-seq
MIRT1458207	hsa-miR-4719	CLIP-seq
MIRT1458208	hsa-miR-4727-5p	CLIP-seq
MIRT1458209	hsa-miR-4731-3p	CLIP-seq
MIRT1458210	hsa-miR-4753-3p	CLIP-seq
MIRT1458211	hsa-miR-4769-3p	CLIP-seq
MIRT1458212	hsa-miR-4783-3p	CLIP-seq
MIRT1458213	hsa-miR-4801	CLIP-seq
MIRT1458214	hsa-miR-488	CLIP-seq
MIRT1458142	hsa-miR-494	CLIP-seq
MIRT1458215	hsa-miR-513a-3p	CLIP-seq
MIRT1458216	hsa-miR-520g	CLIP-seq
MIRT1458217	hsa-miR-520h	CLIP-seq
MIRT1458218	hsa-miR-548ah	CLIP-seq
MIRT1458219	hsa-miR-548n	CLIP-seq
MIRT1458220	hsa-miR-548p	CLIP-seq
MIRT1458221	hsa-miR-548t	CLIP-seq
MIRT1458222	hsa-miR-548u	CLIP-seq
MIRT1458223	hsa-miR-582-5p	CLIP-seq
MIRT1458144	hsa-miR-586	CLIP-seq
MIRT1458145	hsa-miR-606	CLIP-seq
MIRT1458224	hsa-miR-646	CLIP-seq
MIRT1458225	hsa-miR-650	CLIP-seq
MIRT1458226	hsa-miR-761	CLIP-seq
MIRT1458227	hsa-miR-922	CLIP-seq
MIRT1458228	hsa-miR-942	CLIP-seq
MIRT1458229	hsa-miR-943	CLIP-seq
MIRT1458133	hsa-miR-190	CLIP-seq
MIRT1458134	hsa-miR-190b	CLIP-seq
MIRT2137492	hsa-miR-298	CLIP-seq
MIRT2137493	hsa-miR-3123	CLIP-seq
MIRT2137494	hsa-miR-3153	CLIP-seq
MIRT2137495	hsa-miR-3925-5p	CLIP-seq
MIRT1458139	hsa-miR-410	CLIP-seq
MIRT2137496	hsa-miR-4646-5p	CLIP-seq
MIRT2137497	hsa-miR-4668-5p	CLIP-seq
MIRT2137498	hsa-miR-4732-5p	CLIP-seq
MIRT1458214	hsa-miR-488	CLIP-seq
MIRT1458142	hsa-miR-494	CLIP-seq
MIRT1458215	hsa-miR-513a-3p	CLIP-seq
MIRT1458142	hsa-miR-494	CLIP-seq
MIRT1458148	hsa-miR-1228	CLIP-seq
MIRT1458150	hsa-miR-1262	CLIP-seq
MIRT1458151	hsa-miR-1324	CLIP-seq
MIRT1458152	hsa-miR-134	CLIP-seq
MIRT1458153	hsa-miR-1827	CLIP-seq
MIRT1458155	hsa-miR-203	CLIP-seq
MIRT2358314	hsa-miR-2113	CLIP-seq
MIRT1458157	hsa-miR-214	CLIP-seq
MIRT2358315	hsa-miR-223	CLIP-seq
MIRT1458159	hsa-miR-3118	CLIP-seq
MIRT2137493	hsa-miR-3123	CLIP-seq
MIRT1458166	hsa-miR-3612	CLIP-seq
MIRT1458167	hsa-miR-3619-5p	CLIP-seq
MIRT1458171	hsa-miR-3682-5p	CLIP-seq
MIRT1458173	hsa-miR-3908	CLIP-seq
MIRT2137495	hsa-miR-3925-5p	CLIP-seq
MIRT1458182	hsa-miR-4276	CLIP-seq
MIRT1458184	hsa-miR-4287	CLIP-seq
MIRT1458185	hsa-miR-4291	CLIP-seq
MIRT1458186	hsa-miR-4318	CLIP-seq
MIRT1458189	hsa-miR-4443	CLIP-seq
MIRT1458191	hsa-miR-4469	CLIP-seq
MIRT1458194	hsa-miR-4506	CLIP-seq
MIRT1458141	hsa-miR-4639-3p	CLIP-seq
MIRT1458200	hsa-miR-4685-3p	CLIP-seq
MIRT2358316	hsa-miR-4697-3p	CLIP-seq
MIRT1458202	hsa-miR-4699-3p	CLIP-seq
MIRT1458203	hsa-miR-4701-3p	CLIP-seq
MIRT1458205	hsa-miR-4713-5p	CLIP-seq
MIRT2137498	hsa-miR-4732-5p	CLIP-seq
MIRT1458210	hsa-miR-4753-3p	CLIP-seq
MIRT1458214	hsa-miR-488	CLIP-seq
MIRT1458142	hsa-miR-494	CLIP-seq
MIRT1458215	hsa-miR-513a-3p	CLIP-seq
MIRT2358317	hsa-miR-515-5p	CLIP-seq
MIRT1458219	hsa-miR-548n	CLIP-seq
MIRT1458221	hsa-miR-548t	CLIP-seq
MIRT2358318	hsa-miR-592	CLIP-seq
MIRT2358319	hsa-miR-597	CLIP-seq
MIRT2358320	hsa-miR-599	CLIP-seq
MIRT2358321	hsa-miR-622	CLIP-seq
MIRT1458224	hsa-miR-646	CLIP-seq
MIRT1458225	hsa-miR-650	CLIP-seq
MIRT1458146	hsa-miR-668	CLIP-seq
MIRT1458226	hsa-miR-761	CLIP-seq
MIRT1458227	hsa-miR-922	CLIP-seq
MIRT1458229	hsa-miR-943	CLIP-seq
MIRT2358322	hsa-miR-4282	CLIP-seq
MIRT1458215	hsa-miR-513a-3p	CLIP-seq
MIRT1458152	hsa-miR-134	CLIP-seq
MIRT1458159	hsa-miR-3118	CLIP-seq
MIRT2137493	hsa-miR-3123	CLIP-seq
MIRT2396398	hsa-miR-3659	CLIP-seq
MIRT2137495	hsa-miR-3925-5p	CLIP-seq
MIRT1458186	hsa-miR-4318	CLIP-seq
MIRT1458195	hsa-miR-4645-3p	CLIP-seq
MIRT2396399	hsa-miR-4658	CLIP-seq
MIRT2137498	hsa-miR-4732-5p	CLIP-seq
MIRT2396400	hsa-miR-542-3p	CLIP-seq
MIRT2396401	hsa-miR-574-5p	CLIP-seq
MIRT1458229	hsa-miR-943	CLIP-seq
MIRT1458160	hsa-miR-3121-3p	CLIP-seq
MIRT2651599	hsa-miR-101	CLIP-seq
MIRT1458149	hsa-miR-1244	CLIP-seq
MIRT2651600	hsa-miR-1253	CLIP-seq
MIRT1458131	hsa-miR-125a-3p	CLIP-seq
MIRT1458132	hsa-miR-1284	CLIP-seq
MIRT2651601	hsa-miR-1305	CLIP-seq
MIRT1458133	hsa-miR-190	CLIP-seq
MIRT1458134	hsa-miR-190b	CLIP-seq
MIRT1458154	hsa-miR-1910	CLIP-seq
MIRT2358314	hsa-miR-2113	CLIP-seq
MIRT2137492	hsa-miR-298	CLIP-seq
MIRT1458160	hsa-miR-3121-3p	CLIP-seq
MIRT2137493	hsa-miR-3123	CLIP-seq
MIRT2137494	hsa-miR-3153	CLIP-seq
MIRT1458135	hsa-miR-3689a-5p	CLIP-seq
MIRT1458136	hsa-miR-3689b	CLIP-seq
MIRT1458137	hsa-miR-3689e	CLIP-seq
MIRT1458138	hsa-miR-3689f	CLIP-seq
MIRT1458174	hsa-miR-3909	CLIP-seq
MIRT2137495	hsa-miR-3925-5p	CLIP-seq
MIRT2651602	hsa-miR-3973	CLIP-seq
MIRT1458139	hsa-miR-410	CLIP-seq
MIRT1458180	hsa-miR-4267	CLIP-seq
MIRT1458181	hsa-miR-4272	CLIP-seq
MIRT1458182	hsa-miR-4276	CLIP-seq
MIRT1458140	hsa-miR-448	CLIP-seq
MIRT1458141	hsa-miR-4639-3p	CLIP-seq
MIRT2137496	hsa-miR-4646-5p	CLIP-seq
MIRT2137497	hsa-miR-4668-5p	CLIP-seq
MIRT1458206	hsa-miR-4714-3p	CLIP-seq
MIRT2137498	hsa-miR-4732-5p	CLIP-seq
MIRT1458214	hsa-miR-488	CLIP-seq
MIRT1458142	hsa-miR-494	CLIP-seq
MIRT1458215	hsa-miR-513a-3p	CLIP-seq
MIRT1458216	hsa-miR-520g	CLIP-seq
MIRT1458217	hsa-miR-520h	CLIP-seq
MIRT2651603	hsa-miR-548l	CLIP-seq
MIRT1458222	hsa-miR-548u	CLIP-seq
MIRT1458143	hsa-miR-552	CLIP-seq
MIRT2651604	hsa-miR-580	CLIP-seq
MIRT1458223	hsa-miR-582-5p	CLIP-seq
MIRT2651605	hsa-miR-583	CLIP-seq
MIRT1458144	hsa-miR-586	CLIP-seq
MIRT2358318	hsa-miR-592	CLIP-seq
MIRT2358319	hsa-miR-597	CLIP-seq
MIRT2358320	hsa-miR-599	CLIP-seq
MIRT1458145	hsa-miR-606	CLIP-seq
MIRT2651606	hsa-miR-607	CLIP-seq
MIRT1458146	hsa-miR-668	CLIP-seq
MIRT2651599	hsa-miR-101	CLIP-seq
MIRT1458149	hsa-miR-1244	CLIP-seq
MIRT2651600	hsa-miR-1253	CLIP-seq
MIRT1458131	hsa-miR-125a-3p	CLIP-seq
MIRT1458132	hsa-miR-1284	CLIP-seq
MIRT2651601	hsa-miR-1305	CLIP-seq
MIRT1458133	hsa-miR-190	CLIP-seq
MIRT1458134	hsa-miR-190b	CLIP-seq
MIRT1458154	hsa-miR-1910	CLIP-seq
MIRT2358314	hsa-miR-2113	CLIP-seq
MIRT2137492	hsa-miR-298	CLIP-seq
MIRT1458160	hsa-miR-3121-3p	CLIP-seq
MIRT2137493	hsa-miR-3123	CLIP-seq
MIRT2137494	hsa-miR-3153	CLIP-seq
MIRT1458135	hsa-miR-3689a-5p	CLIP-seq
MIRT1458136	hsa-miR-3689b	CLIP-seq
MIRT1458137	hsa-miR-3689e	CLIP-seq
MIRT1458138	hsa-miR-3689f	CLIP-seq
MIRT1458174	hsa-miR-3909	CLIP-seq
MIRT2137495	hsa-miR-3925-5p	CLIP-seq
MIRT2651602	hsa-miR-3973	CLIP-seq
MIRT1458139	hsa-miR-410	CLIP-seq
MIRT1458180	hsa-miR-4267	CLIP-seq
MIRT1458181	hsa-miR-4272	CLIP-seq
MIRT1458182	hsa-miR-4276	CLIP-seq
MIRT1458140	hsa-miR-448	CLIP-seq
MIRT1458141	hsa-miR-4639-3p	CLIP-seq
MIRT1458195	hsa-miR-4645-3p	CLIP-seq
MIRT2137496	hsa-miR-4646-5p	CLIP-seq
MIRT2137497	hsa-miR-4668-5p	CLIP-seq
MIRT1458206	hsa-miR-4714-3p	CLIP-seq
MIRT2137498	hsa-miR-4732-5p	CLIP-seq
MIRT1458214	hsa-miR-488	CLIP-seq
MIRT1458142	hsa-miR-494	CLIP-seq
MIRT1458215	hsa-miR-513a-3p	CLIP-seq
MIRT1458216	hsa-miR-520g	CLIP-seq
MIRT1458217	hsa-miR-520h	CLIP-seq
MIRT2396400	hsa-miR-542-3p	CLIP-seq
MIRT2651603	hsa-miR-548l	CLIP-seq
MIRT1458222	hsa-miR-548u	CLIP-seq
MIRT1458143	hsa-miR-552	CLIP-seq
MIRT2651604	hsa-miR-580	CLIP-seq
MIRT1458223	hsa-miR-582-5p	CLIP-seq
MIRT2651605	hsa-miR-583	CLIP-seq
MIRT1458144	hsa-miR-586	CLIP-seq
MIRT2358318	hsa-miR-592	CLIP-seq
MIRT2358319	hsa-miR-597	CLIP-seq
MIRT2358320	hsa-miR-599	CLIP-seq
MIRT1458145	hsa-miR-606	CLIP-seq
MIRT2651606	hsa-miR-607	CLIP-seq
MIRT1458146	hsa-miR-668	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003713	Function	Transcription coactivator activity	IMP	15881652
GO:0005515	Function	Protein binding	IPI	15881652, 18325344, 21448135, 21791611, 25416956, 31515488, 32296183, 32814053, 34681573
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	34681573
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	21791611, 34681573
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA	34681573
GO:0005739	Component	Mitochondrion	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005886	Component	Plasma membrane	IDA	21791611
GO:0005886	Component	Plasma membrane	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006366	Process	Transcription by RNA polymerase II	TAS	9022669
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0016020	Component	Membrane	IEA
GO:0030511	Process	Positive regulation of transforming growth factor beta receptor signaling pathway	IMP	21791611
GO:0042802	Function	Identical protein binding	IDA	26752201
GO:0043065	Process	Positive regulation of apoptotic process	IMP	18325344
GO:0043066	Process	Negative regulation of apoptotic process	IBA
GO:0043068	Process	Positive regulation of programmed cell death	ISS
GO:0043069	Process	Negative regulation of programmed cell death	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:1902034	Process	Negative regulation of hematopoietic stem cell proliferation	ISS

MIM	HGNC	e!Ensembl
607715	16826	ENSG00000102804

Q15714

Protein name

TSC22 domain family protein 1 (Cerebral protein 2) (HUCEP-2) (Regulatory protein TSC-22) (TGFB-stimulated clone 22 homolog) (Transforming growth factor beta-1-induced transcript 4 protein)

Protein function

Transcriptional repressor (PubMed:10488076). Acts on the C-type natriuretic peptide (CNP) promoter (PubMed:9022669). Acts to promote CASP3-mediated apoptosis (PubMed:18325344). Positively regulates TGF-beta signaling by interacting with SMAD7 wh

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01166	TSC22	988 → 1044	TSC-22/dip/bun family	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed in adult tissues (PubMed:26752201, PubMed:8651929). Expressed in the postmitotic epithelial compartment at the top of intestinal mucosal villi (PubMed:12468551). {ECO:0000269|PubMed:12468551, ECO:0000269|PubMed:2

Sequence

MHQPPESTAAAAAAADISARKMAHPAMFPRRGSGSGSASALNAAGTGVGSNATSSEDFPP
PSLLQPPPPAASSTSGPQPPPPQSLNLLSQAQLQAQPLAPGGTQMKKKSGFQITSVTPAQ
ISASISSNNSIAEDTESYDDLDESHTEDLSSSEILDVSLSRATDLGEPERSSSEETLNNF
QEAETPGAVSPNQPHLPQPHLPHLPQQNVVINGNAHPHHLHHHHQIHHGHHLQHGHHHPS
HVAVASASITGGPPSSPVSRKLSTTGSSDSITPVAPTSAVSSSGSPASVMTNMRAPSTTG
GIGINSVTGTSTVNNVNITAVGSFNPNVTSSMLGNVNISTSNIPSAAGVSVGPGVTSGVN
VNILSGMGNGTISSSAAVSSVPNAAAGMTGGSVSSQQQQPTVNTSRFRVVKLDSSSEPFK
KGRWTCTEFYEKENAVPATEGVLINKVVETVKQNPIEVTSERESTSGSSVSSSVSTLSHY
TESVGSGEMGAPTVVVQQQQQQQQQQQQQPALQGVTLQQMDFGSTGPQSIPAVSIPQSIS
QSQISQVQLQSQELSYQQKQGLQPVPLQATMSAATGIQPSPVNVVGVTSALGQQPSISSL
AQPQLPYSQAAPPVQTPLPGAPPPQQLQYGQQQPMVSTQMAPGHVKSVTQNPASEYVQQQ
PILQTAMSSGQPSSAGVGAGTTVIPVAQPQGIQLPVQPTAVPAQPAGASVQPVGQAPAAV
SAVPTGSQIANIGQQANIPTAVQQPSTQVPPSVIQQGAPPSSQVVPPAQTGIIHQGVQTS
APSLPQQLVIASQSSLLTVPPQPQGVEPVAQGIVSQQLPAVSSLPSASSISVTSQVSSTG
PSGMPSAPTNLVPPQNIAQTPATQNGNLVQSVSQPPLIATNTNLPLAQQIPLSSTQFSAQ
SLAQAIGSQIEDARRAAEPSLVGLPQTISGDSGGMSAVSDGSSSSLAASASLFPLKVLPL
TTPLVDGEDESSSGASVVAIDNKIEQAMDLVKSHLMYAVREEVEVLKEQIKELIEKNSQL
EQENNLLKTLASPEQLAQFQAQLQTGSPPATTQPQGTTQPPAQPASQGSGPTA

Sequence length

1073

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 Unknown Diseases (8)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTI-NEUTROPHIL ANTIBODY ASSOCIATED VASCULITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (46)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult Medulloblastoma	Medulloblastoma	BEFREE	30912127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	12501169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	29935546	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	12501169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	16316942		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	12501169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	12501169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	12501169	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	9195978	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	CTD_human_DG	16316942		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma of lung	Lung carcinoma	BEFREE	27171439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	16316942		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	22870275, 29228668		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	22870275, 29228668		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	30912127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	12501169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphoproliferative Disorder of NK-Cells	Lymphoproliferative Disorder Of Natural Killer Cells	BEFREE	19329776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29481799		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	30649532	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	12757981, 17622752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	12757981, 17622752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	LHGDN	12757981		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	17622752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	12501169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	25605239, 37237254	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Large Granular Lymphocytic	Lymphoblastic Leukemia	BEFREE	19329776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	25605239		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Natural Killer Cell Large Granular Lymphocytic	Lymphoblastic Leukemia	BEFREE	19329776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	27171439	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27171439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16106424, 22473923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of salivary gland	Malignant neoplasm of salivary gland	BEFREE	10879745, 11944908, 15379637, 9458104		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15379637, 29481799		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	22870275, 29228668		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	18299979		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	30912127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12501169, 16106424, 19329776, 22473923, 22870275, 25605239, 29228668, 29481799, 30912127, 9458104		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31745979		★★★★★ ★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	12501169		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis	Osteoarthritis	Pubtator	15922185	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	18325344	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16106424, 22473923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	10879745, 12501169, 9459148	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	9210400	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	16316942		★★★★★ ★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	12501169		★★★★★ ★☆☆☆☆ Found in Text Mining only

TSC22D1 (TSC22 domain family member 1)