Gene Gene information from NCBI Gene database.
Entrez ID 11078
Gene name TRIO and F-actin binding protein
Gene symbol TRIOBP
Synonyms (NCBI Gene)
DFNB28HRIHFB2122TAP68TARAdJ37E16.4
Chromosome 22
Chromosome location 22q13.1
Summary 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.
37
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.
443
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0000781 Component Chromosome, telomeric region IEA
GO:0003779 Function Actin binding IEA
GO:0005515 Function Protein binding IPI 24692559
GO:0005634 Component Nucleus IEA
GO:0005694 Component Chromosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609761 17009 ENSG00000100106
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
275
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal recessive nonsyndromic hearing loss 28 Pathogenic; Likely pathogenic rs768625959, rs1485334519, rs773152243, rs2145835560, rs369119867, rs371412957, rs1329127252, rs375857763, rs575123401, rs2145833313, rs118204026, rs118204027, rs118204028, rs118204029, rs118204030
View all (18 more)
RCV001337107
RCV001799527
RCV001822908
RCV001823265
RCV004820887
RCV003155590
RCV001783909
RCV001783910
RCV003989749
RCV002052222
RCV000001555
RCV000001556
RCV000001557
RCV000001558
RCV000001559
RCV000001560
RCV000001561
RCV005356145
RCV003155591
RCV003155592
RCV004595266
RCV000454233
RCV004586759
RCV000585645
RCV000681528
RCV002221582
RCV000770882
RCV000770883
RCV000770881
RCV000770880
RCV004796348
RCV001196643
RCV002480941
Hearing impairment Likely pathogenic rs756145453 RCV001375213
Hearing loss, autosomal recessive Pathogenic; Likely pathogenic rs777561677, rs1569042782, rs771696726 RCV004719051
RCV001291492
RCV001291491
Nonsyndromic genetic hearing loss Pathogenic rs118204027, rs727503528 RCV004017219
RCV000152152
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Benign; Likely benign rs149390662 RCV005925044
Clear cell carcinoma of kidney Benign; Likely benign rs149390662 RCV005925045
Deafness Benign; Likely benign rs34066624 RCV000509516
Familial cancer of breast Conflicting classifications of pathogenicity rs368112491 RCV005920733
Associations from Text MiningDisease associations identified through Pubtator
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