• Gene id: 84173

Gene Summary

• Gene Symbol: ELMOD3   Gene   UCSC   Ensembl
• Aliases: DFNB88, LST3, RBED1, RBM29
• Gene name: ELMO domain containing 3
• Alternate names: ELMO domain-containing protein 3, ELMO/CED-12 domain containing 3, RNA binding motif and ELMO/CED-12 domain 1, RNA-binding motif and ELMO domain-containing protein 1, RNA-binding motif protein 29, deafness, autosomal recessive 88, liver-specific organic anion t,
• Gene location: 2p11.2 (85354393: 85391751)     Exons: 16     NC_000002.12
• Gene summary(Entrez): 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 prote
• OMIM: 615427

Protein Summary

• Protein general information: Q96FG2  
  • Name: ELMO domain containing protein 3 (RNA binding motif and ELMO domain containing protein 1) (RNA binding motif protein 29) (RNA binding protein 29)
  • Length: 381  
  • Mass: 43046
  • Tissue specificity: Both isoform 1 and isoform 6 are widely expressed. {ECO
• Sequence:

  MNEKSCSFHSKEELRDGQGERLSAGYSPSYDKDKSVLAFRGIPISELKNHGILQALTTEAYEWEPRVVSTEVVRA
  QEEWEAVDTIQPETGSQASSEQPGQLISFSEALQHFQTVDLSPFKKRIQPTIRRTGLAALRHYLFGPPKLHQRLR
  EERDLVLTIAQCGLDSQDPVHGRVLQTIYKKLTGSKFDCALHGNHWEDLGFQGANPATDLRGAGFLALLHLLYLV
  MDSKTLPMAQEIFRLSRHHIQQFPFCLMSVNITHIAIQALREECLSRECNRQQKVIPVVNSFYAATFLHLAHVWR
  TQRKTISDSGFVLKELEVLAKKSPRRLLKTLELYLARVSKGQASLLGAQKCYGPEAPPFKDLTFTGESDLQSHSS
  EGVWLI

• Structural information:
  • Protein Domains: (170..32-)
    (/note="ELMO-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00664"-)
  • Interpro: IPR006816  IPR030731  
  • Prosite: PS51335
  • STRING: ENSP00000318264
• Other Databases: GeneCards:  ELMOD3  Malacards:  ELMOD3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0005096	GTPase activator activity	IDA	NOT|molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0032420	stereocilium	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0060091	kinocilium	IEA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal recessive	KEGG:H00605
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq