ELMOD3 (ELMO domain containing 3)

2014-08-01 Affiliation

Identity

HGNC

ELMOD3

LOCATION

2p11.2

LOCUSID

84173

ALIAS

DFNB88,LST3,RBED1,RBM29

FUSION GENES

Show Gene Fusions

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

Gene ID	Transcript ID	Uniprot
ENSG00000115459	ENST00000315658	Q96FG2
ENSG00000115459	ENST00000393852	Q96FG2
ENSG00000115459	ENST00000409013	Q96FG2
ENSG00000115459	ENST00000409331	B8ZZT8
ENSG00000115459	ENST00000409344	Q96FG2
ENSG00000115459	ENST00000409890	Q96FG2
ENSG00000115459	ENST00000410106	Q96FG2
ENSG00000115459	ENST00000414593	Q96FG2
ENSG00000115459	ENST00000418268	D3YTJ5
ENSG00000115459	ENST00000423095	D6RHZ3
ENSG00000115459	ENST00000429764	F8WEC1
ENSG00000115459	ENST00000440462	D6R929
ENSG00000115459	ENST00000444108	Q96FG2
ENSG00000115459	ENST00000446464	Q96FG2
ENSG00000115459	ENST00000462891	E9PI96

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

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/gene-explorer/favicon/css/card-gene.css