ELMO2
entrez
63916
canonical
uniprot
Q96JJ3
canonical
ensembl
ENSG00000062598
resolver
ensp
ENSP00000290246
resolver
ensp
ENSP00000361249
resolver
ensp
ENSP00000379673
resolver
ensp
ENSP00000533204
resolver
ensp
ENSP00000533211
resolver
genesymbol
ELMO2
resolver
genesymbol_syn
CED12A
resolver
genesymbol_syn
KIAA1834
resolver
hgnc
HGNC:17233
resolver
uniprot
E1P5T3
resolver
uniprot
Q5JVZ6
resolver
uniprot
Q7Z5G9
resolver
uniprot
Q96CJ2
resolver
uniprot
Q96ME5
resolver
uniprot
Q96PA9
resolver
uniprot
Q9H938
resolver
uniprot
Q9H9L5
resolver
uniprot
Q9HAH0
resolver
uniprot
Q9NQQ6
resolver
uniprot_entry
ELMO2_HUMAN
resolver
uniprot_sec
E1P5T3
resolver
uniprot_sec
Q5JVZ6
resolver
uniprot_sec
Q7Z5G9
resolver
uniprot_sec
Q96CJ2
resolver
uniprot_sec
Q96ME5
resolver
uniprot_sec
Q96PA9
resolver
uniprot_sec
Q9H938
resolver
uniprot_sec
Q9H9L5
resolver
uniprot_sec
Q9HAH0
resolver
uniprot_sec
Q9NQQ6
resolver
amino_acid_sequence
MPPPSDIVKVAIEWPGANAQLLEIDQKRPLASIIKEVCDGWSLPNPEYYTLRYADGPQLYITEQTRSDIKNGTILQLAISPSRAARQLMERTQSSNMETRLDAMKELAKLSADVTFATEFINMDGIIVLTRLVESGTKLLSHYSEMLAFTLTAFLELMDHGIVSWDMVSITFIKQIAGYVSQPMVDVSILQRSLAILESMVLNSQSLYQKIAEEITVGQLISHLQVSNQEIQTYAIALINALFLKAPEDKRQDMANAFAQKHLRSIILNHVIRGNRPIKTEMAHQLYVLQVLTFNLLEERMMTKMDPNDQAQRDIIFELRRIAFDAESDPSNAPGSGTEKRKAMYTKDYKMLGFTNHINPAMDFTQTPPGMLALDNMLYLAKVHQDTYIRIVLENSSREDKHECPFGRSAIELTKMLCEILQVGELPNEGRNDYHPMFFTHDRAFEELFGICIQLLNKTWKEMRATAEDFNKVMQVVREQITRALPSKPNSLDQFKSKLRSLSYSEILRLRQSERMSQDDFQSPPIVELREKIQPEILELIKQQRLNRLCEGSSFRKIGNRRRQERFWYCRLALNHKVLHYGDLDDNPQGEVTFESLQEKIPVADIKAIVTGKDCPHMKEKSALKQNKEVLELAFSILYDPDETLNFIAPNKYEYCIWIDGLSALLGKDMSSELTKSDLDTLLSMEMKLRLLDLENIQIPEAPPPIPKEPSSYDFVYHYG
uniprot
proteins
disease_involvement
DISEASE: Vascular malformation, primary intraosseous (VMPI) [MIM:606893]: An autosomal recessive, rare malformation characterized by non-neoplastic severe expansions of blood vessels, usually seen in the vertebral column and in the skull. The most commonly affected bones in the skull are the mandible and the maxilla, and life-threatening bleeding after a simple tooth extraction is frequently observed. {ECO:0000269|PubMed:27476657}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Regulates the activity of DOCK guanine nucleotide exchange factors (GEFs) (PubMed:11595183, PubMed:11703939, PubMed:20679435, PubMed:32651375, PubMed:27476657). Acts in association with DOCK1, DOCK2, DOCK4 and CRK (PubMed:11595183, PubMed:20679435, PubMed:32651375, PubMed:27476657). Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility (PubMed:11595183). {ECO:0000269|PubMed:11595183, ECO:0000269|PubMed:11703939, ECO:0000269|PubMed:20679435, ECO:0000269|PubMed:27476657, ECO:0000269|PubMed:32651375}.
uniprot
proteins
mass_dalton
82615
uniprot
proteins
mutagenesis
MUTAGEN 9; /note="K->A: Abolishes binding to RHOG."; /evidence="ECO:0000269|PubMed:32651375
uniprot
proteins
pubmed
11347906
uniprot
proteins
pubmed
11595183
uniprot
proteins
pubmed
11703939
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20679435
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24567399
uniprot
proteins
pubmed
27476657
uniprot
proteins
pubmed
32651375
uniprot
proteins
sequence_length
720
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20679435}. Cytoplasm, cytosol {ECO:0000269|PubMed:20679435}. Membrane {ECO:0000269|PubMed:20679435}.
uniprot
proteins