TRIM32 |
- 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)