Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9882
Gene name Gene Name - the full gene name approved by the HGNC.
TBC1 domain family member 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TBC1D4
Synonyms (NCBI Gene) Gene synonyms aliases
AS160, NIDDM5
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q22.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity IBA 21873635
GO:0005515 Function Protein binding IPI 15161933, 28514442
GO:0005829 Component Cytosol IDA
GO:0006886 Process Intracellular protein transport IBA 21873635
GO:0016192 Process Vesicle-mediated transport IMP 22908308
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612465 19165 ENSG00000136111
Protein
UniProt ID 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
AMKEDAK
PSKDNEDAFYNSQKFEVLYCGKVTVTHKKAPSSLIDDCMEKFSLHEQQRLKIQ
GEQRGPDPGEDLADLEVVVPGSPGDCLPEEADGTDTHLGLPAGASQPALTSSRVCFPERI
LEDSGFDEQQEFRSRCSSVTGVQRRVHEGSQKSQPRRRHASAPSHVQPSDSEKNRTMLFQ
VGRFEINLISPDTKSVVLEKNFKDISSCSQGIKHVDHFGFICRESPEPGLSQYICYVFQC
ASESLVDEVMLTLKQAFSTAAALQSAK
TQIKLCEACPMHSLHKLCERIEGLYPPRAKLVI
QRHLSSLTDNEQADIFERVQKMKPVSDQEENELVILHLRQLCEAKQKTHVHIGEGPSTIS
NSTIPENATSSGRFKLDILKNKAKRSLTSSLENIFSRGANRMRGRLGSVDSFERSNSLAS
EKDYSPGDSPPGTPPASPPSSAWQTFPEEDSDSPQFRRRAHTFSHPPSSTKRKLNLQDGR
AQGVRSPLLRQSSSEQCSNLSSVRRMYKESNSSSSLPSLHTSFSAPSFTAPSFLKSFYQN
SGRLSPQYENEIRQDTASESSDGEGRKRTSSTCSNESLSVGGTSVTPRRISWRQRIFLRV
ASPMNKSPSAMQQQDGLDRNELLPLSPLSPTMEEEPLVVFLSGEDDPEKIEERKKSKELR
SLWRKAIHQQILLLRMEKENQKLE
ASRDELQSRKVKLDYEEVGACQKEVLITWDKKLLNC
RAKIRCDMEDIHTLLKEGVPKSRRGEIWQFLALQYRLRHRLPNKQQPPDISYKELLKQLT
AQQHAILVDLGRTFPTHPYFSVQLGPGQLSLFNLLKAYSLLDKEVGYCQGISFVAGVLLL
HMSEEQAFEMLKFLMYDLGFRKQYRPDMMSLQIQMYQLSRLLHDYHRDLYNHLEENEISP
SLYAAPWFLTLFASQFSLGFVARVFDIIFLQGTEVIFKVALSLLSSQETLIM
ECESFENI
VEFLKNTLPDMNTSEMEKIITQVFEMDISKQLHAYEVEYHVLQDELQESSYSCEDSETLE
KLERANSQLKRQNMDLLEKLQVAHTKIQALESNLENLLTRETKMKSLIRTLEQEKMAYQK
TVEQLRKLLPADALVNCDLLLRDLNCNPNNKAKIGNKP
Sequence length 1298
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Thyroid hormone signaling pathway
Insulin resistance
Diabetic cardiomyopathy
 
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Diabetes mellitus DIABETES MELLITUS, NONINSULIN-DEPENDENT, 5 rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
Unknown
Disease term Disease name Evidence References Source
Diabetes Diabetes GWAS
Oligodendroglioma Oligodendroglioma GWAS
Associations from Text Mining
Disease Name Relationship Type References
Acanthosis Nigricans Associate 19470471
Albuminuria Associate 36944026
COVID 19 Associate 35579274
Dermatitis Atopic Associate 15304337
Diabetes Mellitus Associate 36944026
Diabetes Mellitus Type 1 Associate 33912980
Diabetes Mellitus Type 2 Inhibit 17327455
Diabetes Mellitus Type 2 Associate 25043022, 27655316, 29926116, 37129117
Diabetic Retinopathy Associate 23562823
Gastrointestinal Stromal Tumors Associate 35655923