• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
TRIM32 (HGNC:16380) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
tripartite motif containing 32
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
LGMD2H
Alias symbols
HT2A, TATIP, BBS11
%HI
26.93(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.86(Read more about gnomAD LOEUF score)
Cytoband
9q33.1
Genomic Coordinates
GRCh37/hg19: chr9:119449584-119463578 NCBI Ensembl UCSC
GRCh38/hg38: chr9:116687305-116701299 NCBI Ensembl UCSC
MANE Select Transcript
NM_012210.4 ENST00000450136.2 (Read more about MANE Select)
Function
Has an E3 ubiquitin ligase activity (PubMed:19349376, PubMed:31123703). Ubiquitinates DTNBP1 (dysbindin) and promotes its degradation (PubMed:19349376). May ubiquitinate BBS2 (PubMed:22500027). Ubiquitinates PIAS4/PIASY and promotes its degradation in keratinocytes treated with UVB and TNF-alpha (By similarity). Also acts as a regulator of autophagy by mediating formation of unanchored 'Lys-63'- linked polyubiquitin chains that activate ULK1: interaction with AMBRA1 is required for ULK1 activati... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-25575
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 limb-girdle muscular dystrophy type 2H Monarch

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000009.11) (NC_000009.12)