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Gene : ELMOD3 Homo sapiens

Name  ? ELMO domain containing 3 Cytological Location  2p11.2
Brief Description  ELMO domain containing 3
Description  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]
  • synonyms:
  • RBM29,
  • DFNB88,
  • RBED1,
  • RBM29,
  • AF258573,
  • RNA binding motif and ELMO/CED-12 domain 1,
  • DFNB88,
  • RBED1,
  • ELMOD3,
  • HGNC:26158,
  • deafness, autosomal recessive 88,
  • LST3,
  • OTTHUMG00000130170,
  • ELMO/CED-12 domain containing 3,
  • RNA binding motif protein 29,
  • NM_032213,
  • uc002spg.5,
  • FLJ21977
  • identifiers:
  • 84173,
  • ENSG00000115459,
  • ELMOD3

Genome feature

Region: gene ? Length: 37359  
Location: 2:85354394-85391752 Cyto location: 2p11.2


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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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0 Pathways

712 SN Ps

5 Cross References

18 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results