ELMOD3 |
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
- 1.02(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)