TBC1D20

  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
TBC1D20 (HGNC:16133) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
TBC1 domain family member 20
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
C20orf140
Alias symbols
dJ852M4.2
%HI
34.62(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.93(Read more about gnomAD pLI score)
LOEUF
0.36(Read more about gnomAD LOEUF score)
Cytoband
20p13
Genomic Coordinates
GRCh37/hg19: chr20:416124-443177 NCBI Ensembl UCSC
GRCh38/hg38: chr20:435480-462533 NCBI Ensembl UCSC
MANE Select Transcript
NM_144628.4 ENST00000354200.5 (Read more about MANE Select)
Function
GTPase-activating protein specific for Rab1 and Rab2 small GTPase families for which it can accelerate the intrinsic GTP hydrolysis rate by more than five orders of magnitude (PubMed:23236136). Involved in maintaining endoplasmic reticulum structure (PubMed:24891604). {ECO:0000269|PubMed:23236136, ECO:0000269|PubMed:24891604}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-9890
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:

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000020.10) (NC_000020.11)