• Gene id: 63916

Gene Summary

• Gene Symbol: ELMO2   Gene   UCSC   Ensembl
• Aliases: CED-12, CED12, Ced-12A, ELMO-2, VMPI
• Gene name: engulfment and cell motility 2
• Alternate names: engulfment and cell motility protein 2, PH domain protein CED12A, ced-12 homolog 2, protein ced-12 homolog A,
• Gene location: 20q13.12 (46407050: 46366044)     Exons: 22     NC_000020.11
• Gene summary(Entrez): The protein encoded by this gene interacts with the dedicator of cyto-kinesis 1 protein. Similarity to a C. elegans protein suggests that this protein may function in phagocytosis of apoptotic cells and in cell migration. Alternative splicing results in m
• OMIM: 606421

Protein Summary

• Protein general information: Q96JJ3  
  • Name: Engulfment and cell motility protein 2 (Protein ced 12 homolog A) (hCed 12A)
  • Length: 720  
  • Mass: 82615
  • Tissue specificity: Widely expressed, with a higher expression in skeletal muscle, kidney and placenta. {ECO
• Sequence:

  MPPPSDIVKVAIEWPGANAQLLEIDQKRPLASIIKEVCDGWSLPNPEYYTLRYADGPQLYITEQTRSDIKNGTIL
  QLAISPSRAARQLMERTQSSNMETRLDAMKELAKLSADVTFATEFINMDGIIVLTRLVESGTKLLSHYSEMLAFT
  LTAFLELMDHGIVSWDMVSITFIKQIAGYVSQPMVDVSILQRSLAILESMVLNSQSLYQKIAEEITVGQLISHLQ
  VSNQEIQTYAIALINALFLKAPEDKRQDMANAFAQKHLRSIILNHVIRGNRPIKTEMAHQLYVLQVLTFNLLEER
  MMTKMDPNDQAQRDIIFELRRIAFDAESDPSNAPGSGTEKRKAMYTKDYKMLGFTNHINPAMDFTQTPPGMLALD
  NMLYLAKVHQDTYIRIVLENSSREDKHECPFGRSAIELTKMLCEILQVGELPNEGRNDYHPMFFTHDRAFEELFG
  ICIQLLNKTWKEMRATAEDFNKVMQVVREQITRALPSKPNSLDQFKSKLRSLSYSEILRLRQSERMSQDDFQSPP
  IVELREKIQPEILELIKQQRLNRLCEGSSFRKIGNRRRQERFWYCRLALNHKVLHYGDLDDNPQGEVTFESLQEK
  IPVADIKAIVTGKDCPHMKEKSALKQNKEVLELAFSILYDPDETLNFIAPNKYEYCIWIDGLSALLGKDMSSELT
  KSDLDTLLSMEMKLRLLDLENIQIPEAPPPIPKEPSSYDFVYHYG

• Structural information:
  • Protein Domains: (311..48-)
    (/note="ELMO-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00664-)
    (553..67-)
    (/note="PH"-)
  • Interpro: IPR011989  IPR016024  IPR024574  IPR030713  IPR006816   IPR011993  IPR001849  
  • Prosite: PS51335
  • PDB: 6IDX 6IE1
  • PDBsum: 6IDX 6IE1
  • STRING: ENSP00000290246
• Other Databases: GeneCards:  ELMO2  Malacards:  ELMO2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007015	actin filament organization	IBA	biological process
GO:0048870	cell motility	IBA	biological process
GO:0048365	Rac GTPase binding	IBA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0060326	cell chemotaxis	IMP	biological process
GO:0030971	receptor tyrosine kinase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0016477	cell migration	IEA	biological process
GO:0098609	cell-cell adhesion	IEA	biological process
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0006909	phagocytosis	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0038096	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS	biological process
GO:0048010	vascular endothelial growth factor receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05131	Shigellosis
hsa05100	Bacterial invasion of epithelial cells

Diseases

Associated diseases	References
Primary intraosseous vascular malformation	KEGG:H02088
Primary intraosseous vascular malformation	KEGG:H02088
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq