Identity
HGNC
LOCATION
2p11.2
LOCUSID
ALIAS
DFNB88,LST3,RBED1,RBM29
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 84173
MIM: 615427
HGNC: 26158
Ensembl: ENSG00000115459
Variants:
dbSNP: 84173
ClinVar: 84173
TCGA: ENSG00000115459
COSMIC: ELMOD3
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37708136 | 2023 | Gene regulation analysis of patient-derived iPSCs and its CRISPR-corrected control provides a new tool for studying perturbations of ELMOD3 c.512A>G mutation during the development of inherited hearing loss. | 2 |
| 37708136 | 2023 | Gene regulation analysis of patient-derived iPSCs and its CRISPR-corrected control provides a new tool for studying perturbations of ELMOD3 c.512A>G mutation during the development of inherited hearing loss. | 2 |
| 31800155 | 2020 | ELMOD3-SH2D6 gene fusion as a possible co-star actor in autism spectrum disorder scenario. | 7 |
| 31800155 | 2020 | ELMOD3-SH2D6 gene fusion as a possible co-star actor in autism spectrum disorder scenario. | 7 |
| 29713870 | 2018 | ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss. | 13 |
| 29713870 | 2018 | ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss. | 13 |
| 24616099 | 2014 | Characterization of recombinant ELMOD (cell engulfment and motility domain) proteins as GTPase-activating proteins (GAPs) for ARF family GTPases. | 39 |
| 24616099 | 2014 | Characterization of recombinant ELMOD (cell engulfment and motility domain) proteins as GTPase-activating proteins (GAPs) for ARF family GTPases. | 39 |
| 24039609 | 2013 | An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans. | 29 |
| 24039609 | 2013 | An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans. | 29 |
Citation
Dessen P
ELMOD3 (ELMO domain containing 3)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54280/elmod3-(elmo-domain-containing-3)
