Log in to save this analysis

Save This Analysis

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 Show/Hide all (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 Show/Hide all (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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (9)
Phenotype Name Clinical Significance Source Reference Evidence Score
Cervical cancer Uncertain significance; Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ELMOD2-related disorder Uncertain significance; Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (6)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Familial Idiopathic Pulmonary Fibrosis Pulmonary Fibrosis BEFREE 16773575
★★★★★
★☆☆☆☆
Found in Text Mining only
Idiopathic Pulmonary Fibrosis Pulmonary Fibrosis BEFREE 16773575
★★★★★
★☆☆☆☆
Found in Text Mining only
Idiopathic Pulmonary Fibrosis Pulmonary Fibrosis LHGDN 16773575
★★★★★
★☆☆☆☆
Found in Text Mining only
Idiopathic Pulmonary Fibrosis Idiopathic pulmonary fibrosis Pubtator 16773575 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Lung diseases Lung Diseases GENOMICS_ENGLAND_DG 16773575
★★★★★
★☆☆☆☆
Found in Text Mining only
Pulmonary Fibrosis Pulmonary Fibrosis BEFREE 16773575
★★★★★
★☆☆☆☆
Found in Text Mining only