ELMOD3 ELMO domain containing 3

Gene ID: 84173, updated on 2-Nov-2024
Gene type: protein coding
Also known as: LST3; RBED1; RBM29; DFNA81; DFNB88

Summary

This gene encodes a member of the engulfment and cell motility family of GTPase-activating proteins that regulate Arf GTPase proteins. Members of this family are defined by a conserved engulfment and cell motility domain. In rat cochlea, the encoded protein is found in stereocilia, kinocilia and cuticular plate of developing hair cells suggesting a function for this protein in cochlear sensory cells. An allelic variant of this family has been associated with autosomal recessive nonsyndromic deafness-88 in humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Autosomal recessive nonsyndromic hearing loss 88 MedGen: C2829267OMIM: 615429GeneReviews: Not available	See labs
Hearing loss, autosomal dominant 81 MedGen: C5561972OMIM: 619500GeneReviews: Not available	See labs

Genomic context

Location:: 2p11.2

Sequence:: Chromosome: 2; NC_000002.12 (85354769..85391748)

Total number of exons:: 17

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for ELMOD3 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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