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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9320
Gene name	Thyroid hormone receptor interactor 12
Gene symbol	TRIP12
Synonyms (NCBI Gene)	MRD49TRIP-12TRIPCULF
Chromosome	2
Chromosome location	2q36.3
Summary	The protein encoded by this gene is an E3 ubiquitin-protein ligase involved in the degradation of the p19ARF/ARF isoform of CDKN2A, a tumor suppressor. The encoded protein also plays a role in the DNA damage response by regulating the stability of USP7, w

Show/Hide all (24)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1064796861	A>G	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1468657712	A>G,T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, synonymous variant
rs1553591922	GAGT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553602821	C>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1553610240	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553610329	CT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, splice acceptor variant
rs1553612358	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1553614300	TG>-	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553616463	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1553620494	->T	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553636520	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553639854	A>G	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1553655558	A>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant, genic downstream transcript variant
rs1553704327	CT>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553704696	T>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1574994308	G>A	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1575023205	C>T	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs1575073974	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1575105918	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1575124128	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1575161164	G>A	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1575203936	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1575409311	CTATGTCTCCGTGACAACATCTCCA>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1575419803	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant

Show/Hide all (74)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022779	hsa-miR-124-3p	Proteomics	18668037
MIRT028570	hsa-miR-30a-5p	Proteomics	18668040
MIRT032415	hsa-let-7b-5p	Proteomics	18668040
MIRT049069	hsa-miR-92a-3p	CLASH	23622248
MIRT045482	hsa-miR-149-5p	CLASH	23622248
MIRT044332	hsa-miR-106b-5p	CLASH	23622248
MIRT041560	hsa-miR-193b-3p	CLASH	23622248
MIRT040856	hsa-miR-18a-3p	CLASH	23622248
MIRT040237	hsa-miR-615-3p	CLASH	23622248
MIRT1456569	hsa-miR-3120-3p	CLIP-seq
MIRT1456570	hsa-miR-330-3p	CLIP-seq
MIRT1456571	hsa-miR-377	CLIP-seq
MIRT1456572	hsa-miR-4422	CLIP-seq
MIRT1456573	hsa-miR-545	CLIP-seq
MIRT1456574	hsa-miR-548ac	CLIP-seq
MIRT1456575	hsa-miR-548ae	CLIP-seq
MIRT1456576	hsa-miR-548aj	CLIP-seq
MIRT1456577	hsa-miR-548am	CLIP-seq
MIRT1456578	hsa-miR-548d-3p	CLIP-seq
MIRT1456579	hsa-miR-548x	CLIP-seq
MIRT1456580	hsa-miR-548z	CLIP-seq
MIRT2136827	hsa-miR-1254	CLIP-seq
MIRT2136828	hsa-miR-125a-3p	CLIP-seq
MIRT2136829	hsa-miR-1296	CLIP-seq
MIRT2136830	hsa-miR-186	CLIP-seq
MIRT2136831	hsa-miR-217	CLIP-seq
MIRT2136832	hsa-miR-2861	CLIP-seq
MIRT2136833	hsa-miR-2909	CLIP-seq
MIRT2136834	hsa-miR-3116	CLIP-seq
MIRT1456569	hsa-miR-3120-3p	CLIP-seq
MIRT2136835	hsa-miR-3133	CLIP-seq
MIRT2136836	hsa-miR-3143	CLIP-seq
MIRT2136837	hsa-miR-3148	CLIP-seq
MIRT2136838	hsa-miR-3675-5p	CLIP-seq
MIRT2136839	hsa-miR-374a	CLIP-seq
MIRT2136840	hsa-miR-374b	CLIP-seq
MIRT1456571	hsa-miR-377	CLIP-seq
MIRT2136841	hsa-miR-3934	CLIP-seq
MIRT2136842	hsa-miR-4511	CLIP-seq
MIRT2136843	hsa-miR-4512	CLIP-seq
MIRT2136844	hsa-miR-4639-5p	CLIP-seq
MIRT2136845	hsa-miR-4744	CLIP-seq
MIRT2136846	hsa-miR-4753-3p	CLIP-seq
MIRT2136847	hsa-miR-510	CLIP-seq
MIRT2136848	hsa-miR-513a-3p	CLIP-seq
MIRT2136849	hsa-miR-543	CLIP-seq
MIRT2136850	hsa-miR-578	CLIP-seq
MIRT2136851	hsa-miR-593	CLIP-seq
MIRT2136852	hsa-miR-764	CLIP-seq
MIRT2136853	hsa-miR-875-3p	CLIP-seq
MIRT2136829	hsa-miR-1296	CLIP-seq
MIRT2357619	hsa-miR-194	CLIP-seq
MIRT2136832	hsa-miR-2861	CLIP-seq
MIRT2136833	hsa-miR-2909	CLIP-seq
MIRT2357620	hsa-miR-3166	CLIP-seq
MIRT2136843	hsa-miR-4512	CLIP-seq
MIRT2357621	hsa-miR-4514	CLIP-seq
MIRT2357622	hsa-miR-4692	CLIP-seq
MIRT2357623	hsa-miR-4718	CLIP-seq
MIRT2136828	hsa-miR-125a-3p	CLIP-seq
MIRT2136836	hsa-miR-3143	CLIP-seq
MIRT2136841	hsa-miR-3934	CLIP-seq
MIRT2651284	hsa-miR-433	CLIP-seq
MIRT2136847	hsa-miR-510	CLIP-seq
MIRT2136849	hsa-miR-543	CLIP-seq
MIRT2136852	hsa-miR-764	CLIP-seq
MIRT2136828	hsa-miR-125a-3p	CLIP-seq
MIRT2136836	hsa-miR-3143	CLIP-seq
MIRT2136841	hsa-miR-3934	CLIP-seq
MIRT2651284	hsa-miR-433	CLIP-seq
MIRT2357623	hsa-miR-4718	CLIP-seq
MIRT2136847	hsa-miR-510	CLIP-seq
MIRT2136849	hsa-miR-543	CLIP-seq
MIRT2136852	hsa-miR-764	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000209	Process	Protein polyubiquitination	IBA
GO:0000209	Process	Protein polyubiquitination	IDA	30982744
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0005515	Function	Protein binding	IPI	18627766, 20208519, 26514267, 36950384
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	20208519
GO:0005654	Component	Nucleoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IDA	18627766, 20208519, 30982744
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IMP	19028681
GO:0006974	Process	DNA damage response	IBA
GO:0006974	Process	DNA damage response	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016607	Component	Nuclear speck	IBA
GO:0016607	Component	Nuclear speck	IDA
GO:0016740	Function	Transferase activity	IEA
GO:0033696	Process	Heterochromatin boundary formation	IMP	22884692
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0045995	Process	Regulation of embryonic development	ISS
GO:0046966	Function	Nuclear thyroid hormone receptor binding	IDA	7776974
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	18627766, 20208519, 30982744
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IMP	19028681
GO:0140861	Process	DNA repair-dependent chromatin remodeling	IMP	22884692

MIM	HGNC	e!Ensembl
604506	12306	ENSG00000153827

Q14669

Protein name

E3 ubiquitin-protein ligase TRIP12 (EC 2.3.2.26) (E3 ubiquitin-protein ligase for Arf) (ULF) (HECT-type E3 ubiquitin transferase TRIP12) (Thyroid receptor-interacting protein 12) (TR-interacting protein 12) (TRIP-12)

Protein function

E3 ubiquitin-protein ligase involved in ubiquitin fusion degradation (UFD) pathway and regulation of DNA repair (PubMed:19028681, PubMed:22884692). Part of the ubiquitin fusion degradation (UFD) pathway, a process that mediates ubiquitination of

PDB

9BKR , 9BKS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00632	HECT	1636 → 1992	HECT-domain (ubiquitin-transferase)	Domain

Sequence

MSNRPNNNPGGSLRRSQRNTAGAQPQDDSIGGRSCSSSSAVIVPQPEDPDRANTSERQKT
GQVPKKDNSRGVKRSASPDYNRTNSPSSAKKPKALQHTESPSETNKPHSKSKKRHLDQEQ
QLKSAQSPSTSKAHTRKSGATGGSRSQKRKRTESSCVKSGSGSESTGAEERSAKPTKLAS
KSATSAKAGCSTITDSSSAASTSSSSSAVASASSTVPPGARVKQGKDQNKARRSRSASSP
SPRRSSREKEQSKTGGSSKFDWAARFSPKVSLPKTKLSLPGSSKSETSKPGPSGLQAKLA
SLRKSTKKRSESPPAELPSLRRSTRQKTTGSCASTSRRGSGLGKRGAAEARRQEKMADPE
SNQEAVNSSAARTDEAPQGAAGAVGMTTSGESESDDSEMGRLQALLEARGLPPHLFGPLG
PRMSQLFHRTIGSGASSKAQQLLQGLQASDESQQLQAVIEMCQLLVMGNEETLGGFPVKS
VVPALITLLQMEHNFDIMNHACRALTYMMEALPRSSAVVVDAIPVFLEKLQVIQCIDVAE
QALTALEMLSRRHSKAILQAGGLADCLLYLEFFSINAQRNALAIAANCCQSITPDEFHFV
ADSLPLLTQRLTHQDKKSVESTCLCFARLVDNFQHEENLLQQVASKDLLTNVQQLLVVTP
PILSSGMFIMVVRMFSLMCSNCPTLAVQLMKQNIAETLHFLLCGASNGSCQEQIDLVPRS
PQELYELTSLICELMPCLPKEGIFAVDTMLKKGNAQNTDGAIWQWRDDRGLWHPYNRIDS
RIIEQINEDTGTARAIQRKPNPLANSNTSGYSESKKDDARAQLMKEDPELAKSFIKTLFG
VLYEVYSSSAGPAVRHKCLRAILRIIYFADAELLKDVLKNHAVSSHIASMLSSQDLKIVV
GALQMAEILMQKLPDIFSVYFRREGVMHQVKHLAESESLLTSPPKACTNGSGSMGSTTSV
SSGTATAATHAAADLGSPSLQHSRDDSLDLSPQGRLSDVLKRKRLPKRGPRRPKYSPPRD
DDKVDNQAKSPTTTQSPKSSFLASLNPKTWGRLSTQSNSNNIEPARTAGGSGLARAASKD
TISNNREKIKGWIKEQAHKFVERYFSSENMDGSNPALNVLQRLCAATEQLNLQVDGGAEC
LVEIRSIVSESDVSSFEIQHSGFVKQLLLYLTSKSEKDAVSREIRLKRFLHVFFSSPLPG
EEPIGRVEPVGNAPLLALVHKMNNCLSQMEQFPVKVHDFPSGNGTGGSFSLNRGSQALKF
FNTHQLKCQLQRHPDCANVKQWKGGPVKIDPLALVQAIERYLVVRGYGRVREDDEDSDDD
GSDEEIDESLAAQFLNSGNVRHRLQFYIGEHLLPYNMTVYQAVRQFSIQAEDERESTDDE
SNPLGRAGIWTKTHTIWYKPVREDEESNKDCVGGKRGRAQTAPTKTSPRNAKKHDELWHD
GVCPSVSNPLEVYLIPTPPENITFEDPSLDVILLLRVLHAISRYWYYLYDNAMCKEIIPT
SEFINSKLTAKANRQLQDPLVIMTGNIPTWLTELGKTCPFFFPFDTRQMLFYVTAFDRDR
AMQRLLDTNPEINQSDSQDSRVAPRLDRKKRTVNREELLKQAESVMQDLGSSRAMLEIQY
ENEVGTGLGPTLEFYALVSQELQRADLGLWRGEEVTLSNPKGSQEGTKYIQNLQGLFALP
FGRTAKPAHIAKVKMKFRFLGKLMAKAIMDFRLVDLPLGLPFYKWMLRQETSLTSHDLFD
IDPVVARSVYHLEDIVRQKKRLEQDKSQTKESLQYALETLTMNGCSVEDLGLDFTLPGFP
NIELKKGGKDIPVTIHNLEEYLRLVIFWALNEGVSRQFDSFRDGFESVFPLSHLQYFYPE
ELDQLLCGSKADTWDAKTLMECCRPDHGYTHDSRAVKFLFEILSSFDNEQQRLFLQFVTG
SPRLPVGGFRSLNPPLTIVRKTFESTENPDDFLPSVMTCVNYLKLPDYSSIEIMREKLLI
AAREGQQSFHLS

Sequence length

1992

Interactions

View interactions

	KEGG		Reactome
	Ubiquitin mediated proteolysis		Antigen processing: Ubiquitination & Proteasome degradation

187

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Clark-Baraitser syndrome	Pathogenic; Likely pathogenic	rs2036605188, rs2154255374, rs2154275777, rs2154256586, rs2154270715, rs2154245501, rs2471479385, rs2471181256, rs2469687265, rs2470271582, rs2471034166, rs2470100391, rs2472099074, rs2154264214, rs2472430261 View all (29 more)	RCV001329828 RCV001420158 RCV001788535 RCV001706865 RCV001786525 RCV001814767 RCV002280009 RCV002289383 RCV002290215 RCV002814352 RCV003127268 RCV003139301 RCV003148446 RCV005636853 RCV003219196 RCV003326690 RCV003314348 RCV003326205 RCV003327354 RCV003335943 RCV003384299 RCV003388276 RCV003988320 RCV003991122 RCV004515778 RCV004595110 RCV000515143 RCV000515148 RCV000515140 RCV000515144 RCV000515149 RCV000515138 RCV001262934 RCV000760182 RCV000987051 RCV000987052 RCV001003473 RCV006257326 RCV001078142 RCV001095645 RCV001197191 RCV002471071 RCV001293635 RCV001293770
Intellectual disability	Pathogenic; Likely pathogenic	rs1553620494, rs1574994308, rs2041937196, rs2043168875, rs2053141794	RCV004798840 RCV001003578 RCV001260790 RCV001260846 RCV001260842
Neurodevelopmental delay	Pathogenic	rs2154259932	RCV002274384
Neurodevelopmental disorder	Pathogenic; Likely pathogenic	rs2154278573, rs2469686143, rs2471540906	RCV001374934 RCV003389178 RCV004018269
See cases	Pathogenic	rs2154245555, rs2154257804, rs2043184881	RCV001420311 RCV001420294 RCV003128566
TRIP12 associated autism with facial dysmorphology	Pathogenic	rs1553655558	RCV000625976
TRIP12-related disorder	Likely pathogenic	rs2475940136	RCV003403066

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs111434821	RCV005903468
Cervical cancer	Benign	rs111434821	RCV005903471
Cholangiocarcinoma	Benign	rs7584686	RCV005918241
Clear cell carcinoma of kidney	Benign	rs111434821	RCV005903472
Colon adenocarcinoma	Benign	rs111434821	RCV005903467
Developmental disorder	Likely benign	rs2154275791, rs2471843588	RCV001843747 RCV003764462
Gastric cancer	Benign; Conflicting classifications of pathogenicity	rs6759674, rs1320218400, rs111434821	RCV005923580 RCV005922788 RCV005903474
Lung cancer	Benign	rs6759674, rs111434821	RCV005923581 RCV005903478
Malignant lymphoma, large B-cell, diffuse	Benign	rs7584686	RCV005918239
Malignant tumor of esophagus	Benign	rs111434821	RCV005903469
Melanoma	Benign	rs111434821	RCV005903477
Nonpapillary renal cell carcinoma	Benign	rs111434821	RCV005903470
Ovarian serous cystadenocarcinoma	Benign	rs111434821	RCV005903475
Prostate cancer	Uncertain significance	rs193921087	RCV000149157
Sarcoma	Benign	rs111434821	RCV005903473
Uterine carcinosarcoma	Benign	rs7584686, rs111434821	RCV005918240 RCV005903476
Uterine corpus endometrial carcinoma	Benign	rs111434821	RCV005903479

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Autism Spectrum Disorder	Associate	27848077, 28251352, 36747006
Autistic Disorder	Associate	25418537, 27848077, 36747006
Breast Neoplasms	Associate	36990278
Carcinogenesis	Associate	22884692
Clark Baraitser syndrome	Associate	36430143, 36747006
Congenital Abnormalities	Associate	28251352, 36747006
Delayed Cranial Ossification due to CBFB Haploinsufficiency	Associate	28251352
Developmental Disabilities	Associate	28251352, 36430143, 36747006
Epilepsy	Associate	36747006
Facial Dysmorphism with Multiple Malformations	Associate	28251352
GATA2 Deficiency	Associate	38031139
Hereditary Breast and Ovarian Cancer Syndrome	Associate	32755579
Intellectual Disability	Associate	27848077, 28251352, 36747006
Language Development Disorders	Associate	28251352
Language Disorders	Associate	36747006
Learning Disabilities	Associate	27848077
Leukemia Myeloid Acute	Associate	24961348
Neoplasms	Associate	33824312, 36990278
Neuroblastoma	Associate	19028681
Obesity	Associate	36747006
Plagiocephaly and X linked mental retardation	Associate	27848077
Seizures	Associate	25418537

TRIP12 (thyroid hormone receptor interactor 12)