Gene Gene information from NCBI Gene database.
Entrez ID 255520
Gene name ELMO domain containing 2
Gene symbol ELMOD2
Synonyms (NCBI Gene)
9830169G11Rik
Chromosome 4
Chromosome location 4q31.1
Summary This gene encodes one of six engulfment and motility (ELMO) domain-containing proteins. This gene is thought to play a role in antiviral responses. Mutations in this gene may be involved in the cause of familial idiopathic pulmonary fibrosis. [provided by
miRNA miRNA information provided by mirtarbase database.
525
miRTarBase ID miRNA Experiments Reference
MIRT005121 hsa-miR-30a-5p pSILAC 18668040
MIRT023938 hsa-miR-1-3p Proteomics 18668040
MIRT005121 hsa-miR-30a-5p Proteomics;Other 18668040
MIRT052229 hsa-let-7b-5p CLASH 23622248
MIRT635534 hsa-miR-4668-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IDA 17452337
GO:0005096 Function GTPase activator activity IEA
GO:0016020 Component Membrane HDA 19946888
GO:0050688 Process Regulation of defense response to virus IDA 17452337
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610196 28111 ENSG00000179387
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IZ81
Protein name ELMO domain-containing protein 2
Protein function Acts as a GTPase-activating protein (GAP) toward guanine nucleotide exchange factors like ARL2, ARL3, ARF1 and ARF6, but not for GTPases outside the Arf family. Regulates IFN-related antiviral responses. {ECO:0000269|PubMed:17452337, ECO:0000269
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04727 ELMO_CED12 111 271 ELMO/CED-12 family Family
Tissue specificity TISSUE SPECIFICITY: Alveolar cells (morphologically type II cells) and alveolar macrophages (at protein level). Expressed in brain, colon, heart, kidney, liver, lung, muscle, placenta, small intestine, spleen, stomach and testis. In lung it is expressed i
Sequence
MFISLWEFFYGHFFRFWMKWLLRQMTGKCELQRIFDTYVGAQRTHRIENSLTYSKNKVLQ
KATHVVQSEVDKYVDDIMKEKNINPEKDASFKICMKMCLLQITGYKQLYLDVESVRKRPY
DSDNLQHEELLMKLWNLLMPTKKLNARISKQWAEIGFQGDDPKTDFRGMGILGLINLVYF
SENYTSEAHQILSRSNHPKLGYSYAIVGINLTEMAYSLLKSEALKFHLYNLVPGIPTMEH
FHQFYCYLVYEFDKFWFEEEPESIMYFNLYR
EKFHEKIKGLLLDCNVALTLKV
Sequence length 293
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
12
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Uncertain significance; Benign rs369960970, rs149594258 RCV005930731
RCV005898757
ELMOD2-related disorder Uncertain significance; Likely benign rs1390336163, rs764726417, rs148286208 RCV003402791
RCV003897306
RCV003939853
Familial pancreatic carcinoma Benign rs149594258 RCV005898758
Gastric cancer Benign rs149594258 RCV005898761
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Idiopathic Pulmonary Fibrosis Inhibit 16773575