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	9882
Gene name	TBC1 domain family member 4
Gene symbol	TBC1D4
Synonyms (NCBI Gene)	AS160NIDDM5
Chromosome	13
Chromosome location	13q22.2
Summary	This gene is a member of the Tre-2/BUB2/CDC16 domain family. The protein encoded by this gene is a Rab-GTPase-activating protein, and contains two phopshotyrosine-binding domains (PTB1 and PTB2), a calmodulin-binding domain (CBD), a Rab-GTPase domain, and

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SNP ID	Visualize variation	Clinical significance	Consequence
rs61736969	G>A,C	Pathogenic, benign, likely-benign	Missense variant, stop gained, genic upstream transcript variant, intron variant, coding sequence variant
rs199560195	C>A,T	Pathogenic	Coding sequence variant, missense variant

272

Show/Hide all (272)

miRTarBase ID	miRNA	Experiments	Reference
MIRT027631	hsa-miR-98-5p	Microarray	19088304
MIRT028587	hsa-miR-30a-5p	Proteomics	18668040
MIRT031138	hsa-miR-19b-3p	Sequencing	20371350
MIRT561483	hsa-miR-4463	PAR-CLIP	20371350
MIRT561482	hsa-miR-4494	PAR-CLIP	20371350
MIRT561481	hsa-miR-4456	PAR-CLIP	20371350
MIRT561480	hsa-miR-8069	PAR-CLIP	20371350
MIRT561479	hsa-miR-1909-3p	PAR-CLIP	20371350
MIRT561478	hsa-miR-6722-3p	PAR-CLIP	20371350
MIRT561477	hsa-miR-1193	PAR-CLIP	20371350
MIRT561476	hsa-miR-1207-5p	PAR-CLIP	20371350
MIRT561475	hsa-miR-4763-3p	PAR-CLIP	20371350
MIRT561474	hsa-miR-4736	PAR-CLIP	20371350
MIRT561473	hsa-miR-7150	PAR-CLIP	20371350
MIRT561472	hsa-miR-29b-2-5p	PAR-CLIP	20371350
MIRT561483	hsa-miR-4463	PAR-CLIP	20371350
MIRT561482	hsa-miR-4494	PAR-CLIP	20371350
MIRT561481	hsa-miR-4456	PAR-CLIP	20371350
MIRT561480	hsa-miR-8069	PAR-CLIP	20371350
MIRT561479	hsa-miR-1909-3p	PAR-CLIP	20371350
MIRT561478	hsa-miR-6722-3p	PAR-CLIP	20371350
MIRT561477	hsa-miR-1193	PAR-CLIP	20371350
MIRT561476	hsa-miR-1207-5p	PAR-CLIP	20371350
MIRT561475	hsa-miR-4763-3p	PAR-CLIP	20371350
MIRT561474	hsa-miR-4736	PAR-CLIP	20371350
MIRT561473	hsa-miR-7150	PAR-CLIP	20371350
MIRT561472	hsa-miR-29b-2-5p	PAR-CLIP	20371350
MIRT561483	hsa-miR-4463	PAR-CLIP	20371350
MIRT561482	hsa-miR-4494	PAR-CLIP	20371350
MIRT561481	hsa-miR-4456	PAR-CLIP	20371350
MIRT561480	hsa-miR-8069	PAR-CLIP	20371350
MIRT561479	hsa-miR-1909-3p	PAR-CLIP	20371350
MIRT561478	hsa-miR-6722-3p	PAR-CLIP	20371350
MIRT561477	hsa-miR-1193	PAR-CLIP	20371350
MIRT561476	hsa-miR-1207-5p	PAR-CLIP	20371350
MIRT561475	hsa-miR-4763-3p	PAR-CLIP	20371350
MIRT561474	hsa-miR-4736	PAR-CLIP	20371350
MIRT561473	hsa-miR-7150	PAR-CLIP	20371350
MIRT561472	hsa-miR-29b-2-5p	PAR-CLIP	20371350
MIRT561483	hsa-miR-4463	PAR-CLIP	20371350
MIRT561482	hsa-miR-4494	PAR-CLIP	20371350
MIRT561481	hsa-miR-4456	PAR-CLIP	20371350
MIRT561480	hsa-miR-8069	PAR-CLIP	20371350
MIRT561479	hsa-miR-1909-3p	PAR-CLIP	20371350
MIRT561478	hsa-miR-6722-3p	PAR-CLIP	20371350
MIRT561477	hsa-miR-1193	PAR-CLIP	20371350
MIRT561476	hsa-miR-1207-5p	PAR-CLIP	20371350
MIRT561475	hsa-miR-4763-3p	PAR-CLIP	20371350
MIRT561474	hsa-miR-4736	PAR-CLIP	20371350
MIRT561473	hsa-miR-7150	PAR-CLIP	20371350
MIRT561472	hsa-miR-29b-2-5p	PAR-CLIP	20371350
MIRT561483	hsa-miR-4463	PAR-CLIP	20371350
MIRT561482	hsa-miR-4494	PAR-CLIP	20371350
MIRT561481	hsa-miR-4456	PAR-CLIP	20371350
MIRT561480	hsa-miR-8069	PAR-CLIP	20371350
MIRT561479	hsa-miR-1909-3p	PAR-CLIP	20371350
MIRT561478	hsa-miR-6722-3p	PAR-CLIP	20371350
MIRT561477	hsa-miR-1193	PAR-CLIP	20371350
MIRT561476	hsa-miR-1207-5p	PAR-CLIP	20371350
MIRT561475	hsa-miR-4763-3p	PAR-CLIP	20371350
MIRT561474	hsa-miR-4736	PAR-CLIP	20371350
MIRT561473	hsa-miR-7150	PAR-CLIP	20371350
MIRT561472	hsa-miR-29b-2-5p	PAR-CLIP	20371350
MIRT561483	hsa-miR-4463	PAR-CLIP	20371350
MIRT561482	hsa-miR-4494	PAR-CLIP	20371350
MIRT561481	hsa-miR-4456	PAR-CLIP	20371350
MIRT561480	hsa-miR-8069	PAR-CLIP	20371350
MIRT561479	hsa-miR-1909-3p	PAR-CLIP	20371350
MIRT561478	hsa-miR-6722-3p	PAR-CLIP	20371350
MIRT561477	hsa-miR-1193	PAR-CLIP	20371350
MIRT561476	hsa-miR-1207-5p	PAR-CLIP	20371350
MIRT561475	hsa-miR-4763-3p	PAR-CLIP	20371350
MIRT561474	hsa-miR-4736	PAR-CLIP	20371350
MIRT561473	hsa-miR-7150	PAR-CLIP	20371350
MIRT561472	hsa-miR-29b-2-5p	PAR-CLIP	20371350
MIRT1413410	hsa-miR-1185	CLIP-seq
MIRT1413411	hsa-miR-1246	CLIP-seq
MIRT1413412	hsa-miR-128	CLIP-seq
MIRT1413413	hsa-miR-1324	CLIP-seq
MIRT1413414	hsa-miR-23a	CLIP-seq
MIRT1413415	hsa-miR-23b	CLIP-seq
MIRT1413416	hsa-miR-23c	CLIP-seq
MIRT1413417	hsa-miR-27a	CLIP-seq
MIRT1413418	hsa-miR-27b	CLIP-seq
MIRT1413419	hsa-miR-3166	CLIP-seq
MIRT1413420	hsa-miR-3200-3p	CLIP-seq
MIRT1413421	hsa-miR-323-3p	CLIP-seq
MIRT1413422	hsa-miR-329	CLIP-seq
MIRT1413423	hsa-miR-3605-5p	CLIP-seq
MIRT1413424	hsa-miR-362-3p	CLIP-seq
MIRT1413425	hsa-miR-3653	CLIP-seq
MIRT1413426	hsa-miR-3658	CLIP-seq
MIRT1413427	hsa-miR-3674	CLIP-seq
MIRT1413428	hsa-miR-3675-5p	CLIP-seq
MIRT1413429	hsa-miR-3679-5p	CLIP-seq
MIRT1413430	hsa-miR-375	CLIP-seq
MIRT1413431	hsa-miR-376a	CLIP-seq
MIRT1413432	hsa-miR-376b	CLIP-seq
MIRT1413433	hsa-miR-3915	CLIP-seq
MIRT1413434	hsa-miR-3921	CLIP-seq
MIRT1413435	hsa-miR-3925-5p	CLIP-seq
MIRT1413436	hsa-miR-3927	CLIP-seq
MIRT1413437	hsa-miR-3928	CLIP-seq
MIRT1413438	hsa-miR-3929	CLIP-seq
MIRT1413439	hsa-miR-3941	CLIP-seq
MIRT1413440	hsa-miR-4277	CLIP-seq
MIRT1413441	hsa-miR-4279	CLIP-seq
MIRT1413442	hsa-miR-4310	CLIP-seq
MIRT1413443	hsa-miR-4311	CLIP-seq
MIRT1413444	hsa-miR-4320	CLIP-seq
MIRT1413445	hsa-miR-4326	CLIP-seq
MIRT1413446	hsa-miR-4419b	CLIP-seq
MIRT1413447	hsa-miR-4451	CLIP-seq
MIRT1413448	hsa-miR-4477b	CLIP-seq
MIRT1413449	hsa-miR-4478	CLIP-seq
MIRT1413450	hsa-miR-4519	CLIP-seq
MIRT1413451	hsa-miR-4528	CLIP-seq
MIRT1413452	hsa-miR-4653-5p	CLIP-seq
MIRT1413453	hsa-miR-4670-3p	CLIP-seq
MIRT1413454	hsa-miR-4680-3p	CLIP-seq
MIRT1413455	hsa-miR-4709-3p	CLIP-seq
MIRT1413456	hsa-miR-4724-3p	CLIP-seq
MIRT1413457	hsa-miR-4724-5p	CLIP-seq
MIRT1413458	hsa-miR-4738-3p	CLIP-seq
MIRT1413459	hsa-miR-4766-3p	CLIP-seq
MIRT1413460	hsa-miR-4766-5p	CLIP-seq
MIRT1413461	hsa-miR-4777-5p	CLIP-seq
MIRT1413462	hsa-miR-4789-5p	CLIP-seq
MIRT1413463	hsa-miR-4790-3p	CLIP-seq
MIRT1413464	hsa-miR-486-3p	CLIP-seq
MIRT1413465	hsa-miR-511	CLIP-seq
MIRT1413466	hsa-miR-513a-3p	CLIP-seq
MIRT1413467	hsa-miR-513a-5p	CLIP-seq
MIRT1413468	hsa-miR-518d-5p	CLIP-seq
MIRT1413469	hsa-miR-519b-5p	CLIP-seq
MIRT1413470	hsa-miR-519c-5p	CLIP-seq
MIRT1413471	hsa-miR-520c-5p	CLIP-seq
MIRT1413472	hsa-miR-526a	CLIP-seq
MIRT1413473	hsa-miR-543	CLIP-seq
MIRT1413474	hsa-miR-548ag	CLIP-seq
MIRT1413475	hsa-miR-548ai	CLIP-seq
MIRT1413476	hsa-miR-548g	CLIP-seq
MIRT1413477	hsa-miR-603	CLIP-seq
MIRT1413478	hsa-miR-610	CLIP-seq
MIRT1413479	hsa-miR-769-5p	CLIP-seq
MIRT2124073	hsa-miR-1206	CLIP-seq
MIRT1413412	hsa-miR-128	CLIP-seq
MIRT2124074	hsa-miR-132	CLIP-seq
MIRT2124075	hsa-miR-194	CLIP-seq
MIRT2124076	hsa-miR-212	CLIP-seq
MIRT2124077	hsa-miR-216a	CLIP-seq
MIRT2124078	hsa-miR-216b	CLIP-seq
MIRT1413417	hsa-miR-27a	CLIP-seq
MIRT1413418	hsa-miR-27b	CLIP-seq
MIRT2124079	hsa-miR-3065-5p	CLIP-seq
MIRT2124080	hsa-miR-3127-5p	CLIP-seq
MIRT2124081	hsa-miR-3189-3p	CLIP-seq
MIRT1413422	hsa-miR-329	CLIP-seq
MIRT2124082	hsa-miR-345	CLIP-seq
MIRT2124083	hsa-miR-3591-3p	CLIP-seq
MIRT2124084	hsa-miR-3618	CLIP-seq
MIRT1413424	hsa-miR-362-3p	CLIP-seq
MIRT1413430	hsa-miR-375	CLIP-seq
MIRT1413434	hsa-miR-3921	CLIP-seq
MIRT1413439	hsa-miR-3941	CLIP-seq
MIRT2124085	hsa-miR-410	CLIP-seq
MIRT2124086	hsa-miR-4256	CLIP-seq
MIRT1413440	hsa-miR-4277	CLIP-seq
MIRT1413445	hsa-miR-4326	CLIP-seq
MIRT2124087	hsa-miR-433	CLIP-seq
MIRT1413451	hsa-miR-4528	CLIP-seq
MIRT2124088	hsa-miR-4539	CLIP-seq
MIRT1413452	hsa-miR-4653-5p	CLIP-seq
MIRT1413453	hsa-miR-4670-3p	CLIP-seq
MIRT1413462	hsa-miR-4789-5p	CLIP-seq
MIRT2124089	hsa-miR-502-5p	CLIP-seq
MIRT1413467	hsa-miR-513a-5p	CLIP-seq
MIRT2124090	hsa-miR-548aa	CLIP-seq
MIRT2124091	hsa-miR-548ac	CLIP-seq
MIRT2124092	hsa-miR-548d-3p	CLIP-seq
MIRT2124093	hsa-miR-548z	CLIP-seq
MIRT2124094	hsa-miR-555	CLIP-seq
MIRT2124095	hsa-miR-579	CLIP-seq
MIRT1413477	hsa-miR-603	CLIP-seq
MIRT2124096	hsa-miR-658	CLIP-seq
MIRT2124097	hsa-miR-664	CLIP-seq
MIRT2346422	hsa-miR-1236	CLIP-seq
MIRT2346423	hsa-miR-1245b-3p	CLIP-seq
MIRT1413412	hsa-miR-128	CLIP-seq
MIRT2346424	hsa-miR-1290	CLIP-seq
MIRT2346425	hsa-miR-1305	CLIP-seq
MIRT2124074	hsa-miR-132	CLIP-seq
MIRT2346426	hsa-miR-134	CLIP-seq
MIRT2346427	hsa-miR-142-5p	CLIP-seq
MIRT2124075	hsa-miR-194	CLIP-seq
MIRT2124076	hsa-miR-212	CLIP-seq
MIRT2124077	hsa-miR-216a	CLIP-seq
MIRT2124078	hsa-miR-216b	CLIP-seq
MIRT1413417	hsa-miR-27a	CLIP-seq
MIRT1413418	hsa-miR-27b	CLIP-seq
MIRT2124079	hsa-miR-3065-5p	CLIP-seq
MIRT2346428	hsa-miR-3118	CLIP-seq
MIRT2346429	hsa-miR-3121-5p	CLIP-seq
MIRT2346430	hsa-miR-3124-3p	CLIP-seq
MIRT2346431	hsa-miR-3137	CLIP-seq
MIRT2346432	hsa-miR-3155	CLIP-seq
MIRT2346433	hsa-miR-3155b	CLIP-seq
MIRT2346434	hsa-miR-3167	CLIP-seq
MIRT2346435	hsa-miR-3183	CLIP-seq
MIRT2124081	hsa-miR-3189-3p	CLIP-seq
MIRT2346436	hsa-miR-3194-3p	CLIP-seq
MIRT1413422	hsa-miR-329	CLIP-seq
MIRT2124083	hsa-miR-3591-3p	CLIP-seq
MIRT2124084	hsa-miR-3618	CLIP-seq
MIRT2346437	hsa-miR-3622b-5p	CLIP-seq
MIRT1413424	hsa-miR-362-3p	CLIP-seq
MIRT2346438	hsa-miR-3650	CLIP-seq
MIRT2346439	hsa-miR-3683	CLIP-seq
MIRT2346440	hsa-miR-3691-5p	CLIP-seq
MIRT1413430	hsa-miR-375	CLIP-seq
MIRT2346441	hsa-miR-376c	CLIP-seq
MIRT2346442	hsa-miR-3911	CLIP-seq
MIRT1413434	hsa-miR-3921	CLIP-seq
MIRT1413439	hsa-miR-3941	CLIP-seq
MIRT2346443	hsa-miR-3942-3p	CLIP-seq
MIRT2346444	hsa-miR-409-3p	CLIP-seq
MIRT2124085	hsa-miR-410	CLIP-seq
MIRT2346445	hsa-miR-421	CLIP-seq
MIRT1413440	hsa-miR-4277	CLIP-seq
MIRT1413445	hsa-miR-4326	CLIP-seq
MIRT2124087	hsa-miR-433	CLIP-seq
MIRT2124088	hsa-miR-4539	CLIP-seq
MIRT2346446	hsa-miR-4640-5p	CLIP-seq
MIRT2346447	hsa-miR-4642	CLIP-seq
MIRT1413452	hsa-miR-4653-5p	CLIP-seq
MIRT1413453	hsa-miR-4670-3p	CLIP-seq
MIRT2346448	hsa-miR-4723-3p	CLIP-seq
MIRT1413456	hsa-miR-4724-3p	CLIP-seq
MIRT2346449	hsa-miR-4726-5p	CLIP-seq
MIRT2346450	hsa-miR-4752	CLIP-seq
MIRT1413462	hsa-miR-4789-5p	CLIP-seq
MIRT1413463	hsa-miR-4790-3p	CLIP-seq
MIRT2346451	hsa-miR-484	CLIP-seq
MIRT1413467	hsa-miR-513a-5p	CLIP-seq
MIRT2124090	hsa-miR-548aa	CLIP-seq
MIRT2124091	hsa-miR-548ac	CLIP-seq
MIRT2124092	hsa-miR-548d-3p	CLIP-seq
MIRT2124093	hsa-miR-548z	CLIP-seq
MIRT2124094	hsa-miR-555	CLIP-seq
MIRT1413477	hsa-miR-603	CLIP-seq
MIRT2346452	hsa-miR-618	CLIP-seq
MIRT2346453	hsa-miR-630	CLIP-seq
MIRT2346454	hsa-miR-635	CLIP-seq
MIRT2124096	hsa-miR-658	CLIP-seq
MIRT2346455	hsa-miR-876-5p	CLIP-seq
MIRT2346456	hsa-miR-9	CLIP-seq
MIRT2346445	hsa-miR-421	CLIP-seq
MIRT2395549	hsa-miR-4709-5p	CLIP-seq
MIRT2639086	hsa-miR-1270	CLIP-seq
MIRT2639087	hsa-miR-2116	CLIP-seq
MIRT2639088	hsa-miR-3647-3p	CLIP-seq
MIRT2639089	hsa-miR-369-3p	CLIP-seq
MIRT2639090	hsa-miR-374a	CLIP-seq
MIRT2639091	hsa-miR-374b	CLIP-seq
MIRT2639092	hsa-miR-4434	CLIP-seq
MIRT2639093	hsa-miR-4516	CLIP-seq
MIRT2639094	hsa-miR-4531	CLIP-seq
MIRT2639095	hsa-miR-4677-5p	CLIP-seq
MIRT2639096	hsa-miR-494	CLIP-seq
MIRT2639097	hsa-miR-620	CLIP-seq
MIRT2346456	hsa-miR-9	CLIP-seq
MIRT2639088	hsa-miR-3647-3p	CLIP-seq

Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	15161933, 28514442, 33961781, 35271311, 36931259
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0016192	Process	Vesicle-mediated transport	IBA
GO:0016192	Process	Vesicle-mediated transport	IMP	22908308
GO:0031339	Process	Negative regulation of vesicle fusion	IEA
GO:0031982	Component	Vesicle	IEA
GO:0032869	Process	Cellular response to insulin stimulus	IEA
GO:0032869	Process	Cellular response to insulin stimulus	IMP	22908308

MIM	HGNC	e!Ensembl
612465	19165	ENSG00000136111

O60343

Protein name

TBC1 domain family member 4 (Akt substrate of 160 kDa) (AS160)

Protein function

May act as a GTPase-activating protein for RAB2A, RAB8A, RAB10 and RAB14. Isoform 2 promotes insulin-induced glucose transporter SLC2A4/GLUT4 translocation at the plasma membrane, thus increasing glucose uptake. {ECO:0000269|PubMed:15971998, ECO

PDB

3QYB , 7NIX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00640	PID	108 → 187	Phosphotyrosine interaction domain (PTB/PID)	Domain
PF00640	PID	311 → 447	Phosphotyrosine interaction domain (PTB/PID)	Domain
PF11830	DUF3350	801 → 864	Domain of unknown function (DUF3350)	Family
PF00566	RabGAP-TBC	921 → 1132	Rab-GTPase-TBC domain	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Isoform 2 is the highest overexpressed in most tissues. Isoform 1 is highly expressed in skeletal muscle and heart, but was not detectable in the liver nor in adipose tissue. Isoform 2 is strongly expressed in adrenal

Sequence

MEPPSCIQDEPFPHPLEPEPGVSAQPGPGKPSDKRFRLWYVGGSCLDHRTTLPMLPWLMA
EIRRRSQKPEAGGCGAPAAREVILVLSAPFLRCVPAPGAGASGGTSPSATQPNPAVFIFE
HKAQHISRFIHNSHDLTYFAYLIKAQPDDPESQMACHVFRATDPSQVPDVISSIRQLSKA
AMKEDAKPSKDNEDAFYNSQKFEVLYCGKVTVTHKKAPSSLIDDCMEKFSLHEQQRLKIQ
GEQRGPDPGEDLADLEVVVPGSPGDCLPEEADGTDTHLGLPAGASQPALTSSRVCFPERI
LEDSGFDEQQEFRSRCSSVTGVQRRVHEGSQKSQPRRRHASAPSHVQPSDSEKNRTMLFQ
VGRFEINLISPDTKSVVLEKNFKDISSCSQGIKHVDHFGFICRESPEPGLSQYICYVFQC
ASESLVDEVMLTLKQAFSTAAALQSAKTQIKLCEACPMHSLHKLCERIEGLYPPRAKLVI
QRHLSSLTDNEQADIFERVQKMKPVSDQEENELVILHLRQLCEAKQKTHVHIGEGPSTIS
NSTIPENATSSGRFKLDILKNKAKRSLTSSLENIFSRGANRMRGRLGSVDSFERSNSLAS
EKDYSPGDSPPGTPPASPPSSAWQTFPEEDSDSPQFRRRAHTFSHPPSSTKRKLNLQDGR
AQGVRSPLLRQSSSEQCSNLSSVRRMYKESNSSSSLPSLHTSFSAPSFTAPSFLKSFYQN
SGRLSPQYENEIRQDTASESSDGEGRKRTSSTCSNESLSVGGTSVTPRRISWRQRIFLRV
ASPMNKSPSAMQQQDGLDRNELLPLSPLSPTMEEEPLVVFLSGEDDPEKIEERKKSKELR
SLWRKAIHQQILLLRMEKENQKLEASRDELQSRKVKLDYEEVGACQKEVLITWDKKLLNC
RAKIRCDMEDIHTLLKEGVPKSRRGEIWQFLALQYRLRHRLPNKQQPPDISYKELLKQLT
AQQHAILVDLGRTFPTHPYFSVQLGPGQLSLFNLLKAYSLLDKEVGYCQGISFVAGVLLL
HMSEEQAFEMLKFLMYDLGFRKQYRPDMMSLQIQMYQLSRLLHDYHRDLYNHLEENEISP
SLYAAPWFLTLFASQFSLGFVARVFDIIFLQGTEVIFKVALSLLSSQETLIMECESFENI
VEFLKNTLPDMNTSEMEKIITQVFEMDISKQLHAYEVEYHVLQDELQESSYSCEDSETLE
KLERANSQLKRQNMDLLEKLQVAHTKIQALESNLENLLTRETKMKSLIRTLEQEKMAYQK
TVEQLRKLLPADALVNCDLLLRDLNCNPNNKAKIGNKP

Sequence length

1298

Interactions

View interactions

	KEGG
	Thyroid hormone signaling pathway Insulin resistance Diabetic cardiomyopathy

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 (12)

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.
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Insulin resistance	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ORAL CAVITY CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TBC1D4-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES 5	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS 5, SUSCEPTIBILITY TO	risk factor	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (25)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acanthosis Nigricans	Acanthosis Nigricans	BEFREE	19470471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	15304337	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	15304337		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	LHGDN	15304337		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	27561922		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	27561922		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	36944026	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	33912980	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	17327455	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	25043022, 27655316, 29926116, 37129117	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	25043022, 27561922, 29784647, 29926116, 31627187		★★★★★ ★☆☆☆☆ Found in Text Mining only
DIABETES MELLITUS, NONINSULIN-DEPENDENT, 5	Diabetes Mellitus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
DIABETES MELLITUS, NONINSULIN-DEPENDENT, 5	Diabetes Mellitus	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	GWASDB_DG	23562823		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	23562823	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	15304337		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	35655923	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	16644684, 19252894, 19470471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	Pubtator	19470471	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	17227768, 18443205, 19470471, 22851577, 25043022, 37129117	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	17327455	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29784647, 31627187		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	LHGDN	17977950		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	25123125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	29431615	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

TBC1D4 (TBC1 domain family member 4)