Gene Gene information from NCBI Gene database.
Entrez ID 55531
Gene name ELMO domain containing 1
Gene symbol ELMOD1
Synonyms (NCBI Gene)
-
Chromosome 11
Chromosome location 11q22.3
miRNA miRNA information provided by mirtarbase database.
202
miRTarBase ID miRNA Experiments Reference
MIRT960997 hsa-miR-1193 CLIP-seq
MIRT960998 hsa-miR-1208 CLIP-seq
MIRT960999 hsa-miR-122 CLIP-seq
MIRT961000 hsa-miR-1307 CLIP-seq
MIRT961001 hsa-miR-143 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
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:0005794 Component Golgi apparatus IEA
GO:0005929 Component Cilium IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615456 25334 ENSG00000110675
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N336
Protein name ELMO domain-containing protein 1
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.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04727 ELMO_CED12 117 303 ELMO/CED-12 family Family
Sequence
MKHFLRMLIQVCLYFYCKFLWRCLKFVMRKLTGRCELQRICYNTKPGASRTMKIETSLRD
SKSKLLQTSVSVHPDAIEKTIEDIMELKKINPDVNPQLGISLQACLLQIVGYRNLIADVE
KLRREAYDSDNPQHEEMLLKLWKFLKPNTPLESRISKQWCEIGFQGDDPKTDFRGMGLLG
LYNLQYFAERDATAAQQVLSDSLHPKCRDITKEEISKFSKAEWEKKRMDKAIGYSFAIVG
INITDLAYNLLVSGALKTHFYNIAPEAPTLSHFQQTFCYLMHEFHKFWIEEDPMDIMEFN
RVR
EKFRKRIIKQLQNPDMALCPHFAASEGLINM
Sequence length 334
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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.
Phenotype Name Clinical Significance Source Evidence Score
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 31327155
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 35065650 Associate
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation BEFREE 31327155
★☆☆☆☆
Found in Text Mining only
Mental Retardation Mental retardation BEFREE 31327155
★☆☆☆☆
Found in Text Mining only
Pervasive Development Disorder Autism spectrum disorder BEFREE 31327155
★☆☆☆☆
Found in Text Mining only