Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
11078
Gene name Gene Name - the full gene name approved by the HGNC.
TRIO and F-actin binding protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TRIOBP
Synonyms (NCBI Gene) Gene synonyms aliases
DFNB28, HRIHFB2122, TAP68, TARA, dJ37E16.4
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DFNB28
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein with an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. The protein interacts with trio, which is involved with neural tissue development and controlling actin cytoskeleton organization, cell motility
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs34066624 G>A Conflicting-interpretations-of-pathogenicity, likely-benign, not-provided, benign-likely-benign Genic upstream transcript variant, coding sequence variant, missense variant
rs55821172 G>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs118204026 C>G,T Pathogenic Missense variant, coding sequence variant, stop gained, genic upstream transcript variant
rs118204027 C>T Pathogenic Coding sequence variant, stop gained, genic upstream transcript variant
rs118204028 C>T Pathogenic Coding sequence variant, stop gained, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT029872 hsa-miR-26b-5p Microarray 19088304
MIRT716799 hsa-miR-4312 HITS-CLIP 19536157
MIRT716798 hsa-miR-3912-5p HITS-CLIP 19536157
MIRT716797 hsa-miR-670-3p HITS-CLIP 19536157
MIRT698071 hsa-miR-302f HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
GO:0005815 Component Microtubule organizing center IEA
GO:0005925 Component Focal adhesion HDA 21423176
GO:0007015 Process Actin filament organization IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609761 17009 ENSG00000100106
Protein
UniProt ID Q9H2D6
Protein name TRIO and F-actin-binding protein (Protein Tara) (TRF1-associated protein of 68 kDa) (Trio-associated repeat on actin)
Protein function [Isoform 1]: Regulates actin cytoskeletal organization, cell spreading and cell contraction by directly binding and stabilizing filamentous F-actin and prevents its depolymerization (PubMed:18194665, PubMed:28438837). May also serve as a linker
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH 1779 1887 PH domain Domain
Tissue specificity TISSUE SPECIFICITY: [Isoform 1]: Widely expressed. Highly expressed in heart and placenta. {ECO:0000269|PubMed:11148140}.; TISSUE SPECIFICITY: [Isoform 3]: Expressed in fetal brain, retina and cochlea but is not detectable in the other tissues. {ECO:00002
Sequence
MEEVPGDALCEHFEANILTQNRCQNCFHPEEAHGARYQELRSPSGAEVPYCDLPRCPPAP
EDPLSASTSGCQSVVDPGLRPGPKRGPSPSAGLPEEGPTAAPRSRSRELEAVPYLEGLTT
SLCGSCNEDPGSDPTSSPDSATPDDTSNSSSVDWDTVERQEEEAPSWDELAVMIPRRPRE
GPRADSSQRAPSLLTRSPVGGDAAGQKKEDTGGGGRSAGQHWARLRGESGLSLERHRSTL
TQASSMTPHSGPRSTTSQASPAQRDTAQAASTREIPRASSPHRITQRDTSRASSTQQEIS
RASSTQQETSRASSTQEDTPRASSTQEDTPRASSTQWNTPRASSPSRSTQLDNPRTSSTQ
QDNPQTSFPTCTPQRENPRTPCVQQDDPRASSPNRTTQRENSRTSCAQRDNPKASRTSSP
NRATRDNPRTSCAQRDNPRASSPSRATRDNPTTSCAQRDNPRASRTSSPNRATRDNPRTS
CAQRDNPRASSPSRATRDNPTTSCAQRDNPRASRTSSPNRATRDNPRTSCAQRDNPRASS
PNRAARDNPTTSCAQRDNPRASRTSSPNRATRDNPRTSCAQRDNPRASSPNRATRDNPTT
SCAQRDNPRASRTSSPNRATRDNPRTSCAQRDNPRASSPNRTTQQDSPRTSCARRDDPRA
SSPNRTIQQENPRTSCALRDNPRASSPSRTIQQENPRTSCAQRDDPRASSPNRTTQQENP
RTSCARRDNPRASSRNRTIQRDNPRTSCAQRDNPRASSPNRTIQQENLRTSCTRQDNPRT
SSPNRATRDNPRTSCAQRDNLRASSPIRATQQDNPRTCIQQNIPRSSSTQQDNPKTSCTK
RDNLRPTCTQRDRTQSFSFQRDNPGTSSSQCCTQKENLRPSSPHRSTQWNNPRNSSPHRT
NKDIPWASFPLRPTQSDGPRTSSPSRSKQSEVPWASIALRPTQGDRPQTSSPSRPAQHDP
PQSSFGPTQYNLPSRATSSSHNPGHQSTSRTSSPVYPAAYGAPLTSPEPSQPPCAVCIGH
RDAPRASSPPRYLQHDPFPFFPEPRAPESEPPHHEPPYIPPAVCIGHRDAPRASSPPRHT
QFDPFPFLPDTSDAEHQCQSPQHEPLQLPAPVCIGYRDAPRASSPPRQAPEPSLLFQDLP
RASTESLVPSMDSLHECPHIPTPVCIGHRDAPSFSSPPRQAPEPSLFFQDPPGTSMESLA
PSTDSLHGSPVLIPQVCIGHRDAPRASSPPRHPPSDLAFLAPSPSPGSSGGSRGSAPPGE
TRHNLEREEYTVLADLPPPRRLAQRQPGPQAQCSSGGRTHSPGRAEVERLFGQERRKSEA
AGAFQAQDEGRSQQPSQGQSQLLRRQSSPAPSRQVTMLPAKQAELTRRSQAEPPHPWSPE
KRPEGDRQLQGSPLPPRTSARTPERELRTQRPLESGQAGPRQPLGVWQSQEEPPGSQGPH
RHLERSWSSQEGGLGPGGWWGCGEPSLGAAKAPEGAWGGTSREYKESWGQPEAWEEKPTH
ELPRELGKRSPLTSPPENWGGPAESSQSWHSGTPTAVGWGAEGACPYPRGSERRPELDWR
DLLGLLRAPGEGVWARVPSLDWEGLLELLQARLPRKDPAGHRDDLARALGPELGPPGTND
VPEQESHSQPEGWAEATPVNGHSPALQSQSPVQLPSPACTSTQWPKIKVTRGPATATLAG
LEQTGPLGSRSTAKGPSLPELQFQPEEPEESEPSRGQDPLTDQKQADSADKRPAEGKAGS
PLKGRLVTSWRMPGDRPTLFNPFLLSLGVLRWRRPDLLNFKKGWMSILDEPGEPPSPSLT
TTSTSQWKKHWFVLTDSSLKYYRDSTAEEADELDGEIDLRSCTDVTEYAVQRNYGFQIHT
KDAVYTLSAMTSGIRRNWIEALRKTVR
PTSAPDVTKLSDSNKENALHSYSTQKGPLKAGE
QRAGSEVISRGGPRKADGQRQALDYVELSPLTQASPQRARTPARTPDRLAKQEELERDLA
QRSEERRKWFEATDSRTPEVPAGEGPRRGLGAPLTEDQQNRLSEEIEKKWQELEKLPLRE
NKRVPLTALLNQSRGERRGPPSDGHEALEKEVQALRAQLEAWRLQGEAPQSALRSQEDGH
IPPGYISQEACERSLAEMESSHQQVMEELQRHHERELQRLQQEKEWLLAEETAATASAIE
AMKKAYQEELSRELSKTRSLQQGPDGLRKQHQSDVEALKRELQVLSEQYSQKCLEIGALM
RQAEEREHTLRRCQQEGQELLRHNQELHGRLSEEIDQLRGFIASQGMGNGCGRSNERSSC
ELEVLLRVKENELQYLKKEVQCLRDELQMMQKDKRFTSGKYQDVYVELSHIKTRSEREIE
QLKEHLRLAMAALQEKESMRNSLAE
Sequence length 2365
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Deafness DEAFNESS, AUTOSOMAL RECESSIVE (disorder), Deafness, Autosomal Recessive 28 rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822
View all (1019 more)
24853665, 16385457, 27014650, 27764096, 23226338, 16385458, 27344577, 20510926
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
28736931
Unknown
Disease term Disease name Evidence References Source
Glaucoma Glaucoma GWAS
Atrial Fibrillation Atrial Fibrillation GWAS
Associations from Text Mining
Disease Name Relationship Type References
Age Related Hearing Impairment 1 Associate 27764096
Carcinogenesis Associate 32188867
Carcinoma Renal Cell Associate 38179759
Deafness Associate 23226338, 25333879, 27344577, 29568747, 32487028, 35062939, 36029164, 39533558
Deafness Autosomal Recessive Associate 29568747
Glioblastoma Stimulate 29363730
Glioma Associate 29363730
Hearing Loss Associate 29197352, 29363730, 32487028, 32682410, 35062939, 36029164
Hearing Loss Sensorineural Associate 29197352, 36029164
Mental Disorders Associate 25333879