DDEF2

Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 is a protein that in humans is encoded by the ASAP2 gene.^[5][6][7]

ASAP2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1DCQ
Identifiers
Aliases	ASAP2, AMAP2, CENTB3, DDEF2, PAG3, PAP, Pap-alpha, SHAG1, ArfGAP with SH3 domain, ankyrin repeat and PH domain 2
External IDs	OMIM: 603817; MGI: 2685438; HomoloGene: 2888; GeneCards: ASAP2; OMA:ASAP2 - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p25.1|2p24 Start 9,206,765 bp[1] End 9,405,683 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12|12 A1.3 Start 21,040,460 bp[2] End 21,320,172 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte sperm synovial joint renal medulla amniotic fluid cartilage tissue buccal mucosa cell skin of hip mucosa of colon mucosa of sigmoid colon Top expressed in lumbar subsegment of spinal cord ascending aorta tail of embryo epithelium of stomach hand genital tubercle endothelial cell of lymphatic vessel aortic valve secondary oocyte lateral geniculate nucleus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding metal ion binding GTPase activator activity Cellular component cytoplasm Golgi cisterna membrane plasma membrane Golgi apparatus membrane Biological process positive regulation of GTPase activity Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8853 211914 Ensembl ENSG00000151693 ENSMUSG00000052632 UniProt O43150 Q7SIG6 RefSeq (mRNA) NM_001135191 NM_003887 NM_001004364 NM_001098168 NM_001135192 RefSeq (protein) NP_001128663 NP_003878 NP_001004364 NP_001091637 NP_001128664 Location (UCSC) Chr 2: 9.21 – 9.41 Mb Chr 12: 21.04 – 21.32 Mb PubMed search [3] [4]
Wikidata
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This gene encodes a multidomain protein containing an N-terminal alpha-helical region with a coiled-coil motif, followed by a pleckstrin homology (PH) domain, an Arf-GAP domain, an ankyrin homology region, a proline-rich region, and a C-terminal Src homology 3 (SH3) domain. The protein localizes in the Golgi apparatus and at the plasma membrane, where it colocalizes with protein tyrosine kinase 2-beta (PYK2). The encoded protein forms a stable complex with PYK2 in vivo. This interaction appears to be mediated by binding of its SH3 domain to the C-terminal proline-rich domain of PYK2. The encoded protein is tyrosine phosphorylated by activated PYK2. In vitro it shows strong GTPase-activating protein (GAP) activity towards the small GTPases ADP-ribosylation factor (ARF) 1 and ARF5 and weak activity towards ARF6. The encoded protein is believed to function as an ARF GAP that controls ARF-mediated vesicle budding when recruited to Golgi membranes. In addition, it functions as a substrate and downstream target for PYK2 and SRC, a pathway that may be involved in the regulation of vesicular transport.^[7]

Interactions

DDEF2 has been shown to interact with PTK2B.^[8]