• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
TRIOBP (HGNC:17009) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
TRIO and F-actin binding protein
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
DFNB28
Alias symbols
HRIHFB2122, KIAA1662, Tara, TAP68
%HI
54.57(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.71(Read more about gnomAD LOEUF score)
Cytoband
22q13.1
Genomic Coordinates
GRCh37/hg19: chr22:38093055-38172563 NCBI Ensembl UCSC
GRCh38/hg38: chr22:37697048-37776556 NCBI Ensembl UCSC
MANE Select Transcript
NM_001039141.3 ENST00000644935.1 (Read more about MANE Select)
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 protein to recruit proteins required for F-actin formation and turnover (PubMed:18194665). Essential for correct mitotic progression (PubMed:24692559, PubMed:22820163). {ECO:0000269|PubMed:18194665, ECO:0000269|PubMed:22820163, ECO:0000269|PubMed:24692559... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-33054
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • autosomal recessive nonsyndromic hearing loss 28 Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000022.10) (NC_000022.11)