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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
37
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
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
View all (28 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hearing impairment Likely pathogenic rs756145453 RCV001375213
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal recessive Pathogenic; Likely pathogenic rs777561677, rs1569042782, rs771696726 RCV004719051
RCV001291492
RCV001291491
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonsyndromic genetic hearing loss Pathogenic rs118204027, rs727503528 RCV004017219
RCV000152152
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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.
Phenotype Name Clinical Significance Source Evidence Score
Adrenocortical carcinoma, hereditary Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autosomal recessive non-syndromic sensorineural deafness type DFNB Non-Syndromic Sensorineural Deafness Orphanet
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 32188867 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 38179759 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 28125788
★☆☆☆☆
Found in Text Mining only
Deafness Deafness Pubtator 23226338, 25333879, 27344577, 29568747, 32487028, 35062939, 36029164, 39533558 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Deafness Autosomal Recessive Deafness Pubtator 29568747 Associate
★☆☆☆☆
Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) Deafness CLINGEN_DG 16385457, 16385458, 20510926, 23226338, 24853665, 27014650, 27344577, 27764096
★☆☆☆☆
Found in Text Mining only
Deafness, Autosomal Recessive 28 Deafness UNIPROT_DG 16385457, 16385458
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 28 Deafness GENOMICS_ENGLAND_DG 20510926
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 28 Deafness CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations