Gene Facts External Data Attribution

HGNC Symbol
ELMOD3 (HGNC:26158) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
ELMO domain containing 3
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
RBM29, RBED1, DFNB88
Alias symbols
FLJ21977
%HI
58.57(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.61(Read more about gnomAD LOEUF score)
Cytoband
2p11.2
Genomic Coordinates
GRCh37/hg19: chr2:85581892-85618871 NCBI Ensembl UCSC
GRCh38/hg38: chr2:85354769-85391748 NCBI Ensembl UCSC
MANE Select Transcript
NM_001135022.2 ENST00000409013.8 (Read more about MANE Select)
Function
Acts as a GTPase-activating protein (GAP) for ARL2 with low specific activity. {ECO:0000269|PubMed:24039609}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-19752
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)