ELMO3 (engulfment and cell motility 3)

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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 79767
• Gene name: Engulfment and cell motility 3
• Gene symbol: ELMO3
• Synonyms (NCBI Gene): CED-12, CED12, ELMO-3
• Chromosome: 16
• Chromosome location: 16q22.1
• Summary: The protein encoded by this gene is similar to a C. elegans protein that functions in phagocytosis of apoptotic cells and in cell migration. Other members of this small family of engulfment and cell motility (ELMO) proteins have been shown to interact wit

miRNA Show/Hide all (21)

miRTarBase ID	miRNA	Experiments	Reference
MIRT960978	hsa-miR-103a	CLIP-seq
MIRT960979	hsa-miR-107	CLIP-seq
MIRT960980	hsa-miR-1184	CLIP-seq
MIRT960981	hsa-miR-1205	CLIP-seq
MIRT960982	hsa-miR-138	CLIP-seq
MIRT960983	hsa-miR-205	CLIP-seq
MIRT960984	hsa-miR-216b	CLIP-seq
MIRT960985	hsa-miR-3158-5p	CLIP-seq
MIRT960986	hsa-miR-335	CLIP-seq
MIRT960987	hsa-miR-3677-5p	CLIP-seq
MIRT960988	hsa-miR-4733-5p	CLIP-seq
MIRT960989	hsa-miR-4763-5p	CLIP-seq
MIRT960990	hsa-miR-4771	CLIP-seq
MIRT960991	hsa-miR-4793-3p	CLIP-seq
MIRT960992	hsa-miR-499a-5p	CLIP-seq
MIRT960993	hsa-miR-544	CLIP-seq
MIRT960994	hsa-miR-550a	CLIP-seq
MIRT960995	hsa-miR-604	CLIP-seq
MIRT960996	hsa-miR-647	CLIP-seq
MIRT960991	hsa-miR-4793-3p	CLIP-seq
MIRT2219628	hsa-miR-483-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CDX2	Activation	20127720
SP1	Activation	20127720

Gene ontology (GO) Show/Hide all (7)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	24567399
GO:0005737	Component	Cytoplasm	IEA
GO:0006909	Process	Phagocytosis	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007015	Process	Actin filament organization	IBA
GO:0017124	Function	SH3 domain binding	IEA
GO:0048870	Process	Cell motility	IBA

Other IDs

• MIM: 606422
• HGNC: 17289
• e!Ensembl: ENSG00000102890

Protein

• UniProt ID: Q96BJ8
• Protein name: Engulfment and cell motility protein 3
• Protein function: Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May en
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04727	ELMO_CED12	291 → 468	ELMO/CED-12 family	Family
  PF11841	DUF3361	115 → 268	Domain of unknown function (DUF3361)	Family
  PF16457	PH_12	535 → 663	Pleckstrin homology domain	Domain

• Sequence:

  MAPPRNVVKIAIKMRDAIPQLIQLDQAKPLAAVLKEVCDAWSLTHSERYALQFADGHRRY
  ITENNRAEIKNGSILCLSTAPDLEAEQLLGGLQSNSPEGRREALRRLVPLASDMIFAREV
  ISRNGLQILGTIIEDGDDLGEVLALSLRAFSELMEHGVVSWETLSIPFVRKVVCYVNMNL
  MDASVPPLALGLLESVTLSSPALGQLVKSEVPLDRLLVHLQVMNQQLQTKAMALLTALLQ
  GASPVERKHMLDYLWQRNLRQFIYKNIIHSAAPMGDEMAHHLYVLQALMLGLLEPRMRTP
  LDPYSQEQREQLQVLRQAAFEVEGESSGAGLSADRRRSLCAREFRKLGFSNSNPAQDLER
  VPPGLLALDNMLYFSRNAPSAYSRFVLENSSREDKHECPFARGSIQLTVLLCELLRVGEP
  CSETAQDFSPMFFGQDQSFHELFCVGIQLLNKTWKEMRATQEDFDKVMQVVREQLARTLA
  LKPTSLELFRTKVNALTYGEVLRLRQTERLHQEGTLAPPILELREKLKPELMGLIRQQRL
  LRLCEGTLFRKISSRRRQDKLWFCCLSPNHKLLQYGDMEEGASPPTLESLPEQLPVADMR
  ALLTGKDCPHVREKGSGKQNKDLYELAFSISYDRGEEEAYLNFIAPSKREFYLWTDGLSA
  LLGSPMGSEQTRLDLEQLLTMETKLRLLELENVPIPERPPPVPPPPTNFNFCYDCSIAEP
  

• Sequence length: 720

Pathways

KEGG Pathway:

Bacterial invasion of epithelial cells

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Cervical cancer	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ullrich congenital muscular dystrophy 1A	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (18)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autism Spectrum Disorder	Autism	Pubtator	33660564	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	28166396		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28166396, 31134158		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27999268		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27999268	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33660564	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	33660564	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26191257, 27999268	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	28166396		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28166396, 31134158		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30345300		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30345300		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28166396		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31134158		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	30374620	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	28039609		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30345300		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30345300	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for ELMO3.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to ELMO3.