ELMOD3 (ELMO domain containing 3)

2014-08-01  

Identity

HGNC
ELMOD3
LOCATION
2p11.2
LOCUSID
84173
ALIAS
DFNB88,LST3,RBED1,RBM29
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84173
MIM: 615427
HGNC: 26158
Ensembl: ENSG00000115459

Variants:

dbSNP: 84173
ClinVar: 84173
TCGA: ENSG00000115459
COSMIC: ELMOD3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115459ENST00000315658Q96FG2
ENSG00000115459ENST00000393852Q96FG2
ENSG00000115459ENST00000409013Q96FG2
ENSG00000115459ENST00000409331B8ZZT8
ENSG00000115459ENST00000409344Q96FG2
ENSG00000115459ENST00000409890Q96FG2
ENSG00000115459ENST00000410106Q96FG2
ENSG00000115459ENST00000414593Q96FG2
ENSG00000115459ENST00000418268D3YTJ5
ENSG00000115459ENST00000423095D6RHZ3
ENSG00000115459ENST00000429764F8WEC1
ENSG00000115459ENST00000440462D6R929
ENSG00000115459ENST00000444108Q96FG2
ENSG00000115459ENST00000446464Q96FG2
ENSG00000115459ENST00000462891E9PI96

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
246160992014Characterization of recombinant ELMOD (cell engulfment and motility domain) proteins as GTPase-activating proteins (GAPs) for ARF family GTPases.24
240396092013An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans.19
297138702018ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss.4

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)