Gene Gene information from NCBI Gene database.
Entrez ID 8853
Gene name ArfGAP with SH3 domain, ankyrin repeat and PH domain 2
Gene symbol ASAP2
Synonyms (NCBI Gene)
AMAP2CENTB3DDEF2PAG3PAPPap-alphaSHAG1
Chromosome 2
Chromosome location 2p25.1|2p24
Summary 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 homol
miRNA miRNA information provided by mirtarbase database.
365
miRTarBase ID miRNA Experiments Reference
MIRT019707 hsa-miR-375 Microarray 20215506
MIRT626426 hsa-miR-548ae-3p HITS-CLIP 23824327
MIRT626425 hsa-miR-548ah-3p HITS-CLIP 23824327
MIRT626424 hsa-miR-548aj-3p HITS-CLIP 23824327
MIRT626423 hsa-miR-548am-3p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
CTCF Unknown 23999061
VDR Unknown 23999061
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IEA
GO:0005515 Function Protein binding IPI 11716503, 17255943, 17474147, 18786926, 20936779, 21706016, 25416956, 31980649, 33961781
GO:0005737 Component Cytoplasm IEA
GO:0005794 Component Golgi apparatus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603817 2721 ENSG00000151693
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43150
Protein name Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 (Development and differentiation-enhancing factor 2) (Paxillin-associated protein with ARF GAP activity 3) (PAG3) (Pyk2 C-terminus-associated protein) (PAP)
Protein function Activates the small GTPases ARF1, ARF5 and ARF6. Regulates the formation of post-Golgi vesicles and modulates constitutive secretion. Modulates phagocytosis mediated by Fc gamma receptor and ARF6. Modulates PXN recruitment to focal contacts and
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16746 BAR_3 31 266 Domain
PF00169 PH 306 397 PH domain Domain
PF01412 ArfGap 421 539 Putative GTPase activating protein for Arf Domain
PF00023 Ank 620 652 Ankyrin repeat Repeat
PF14604 SH3_9 951 1002 Variant SH3 domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in heart, brain, placenta, kidney, monocytes and pancreas. {ECO:0000269|PubMed:10022920}.
Sequence
MPDQISVSEFVAETHEDYKAPTASSFTTRTAQCRNTVAAIEEALDVDRMVLYKMKKSVKA
INSSGLAHVENEEQYTQALEKFGGNCVCRDDPDLGSAFLKFSVFTKELTALFKNLIQNMN
NIISFPLDSLLKGDLKGVKGDLKKPFDKAWKDYETKITKIEKEKKEHAKLHGMIRTEISG
AEIAEEMEKERRFFQLQMCEYLLKVNEIKIKKGVDLLQNLIKYFHAQCNFFQDGLKAVES
LKPSIETLSTDLHTIKQAQDEERRQL
IQLRDILKSALQVEQKEDSQIRQSTAYSLHQPQG
NKEHGTERNGSLYKKSDGIRKVWQKRKCSVKNGFLTISHGTANRPPAKLNLLTCQVKTNP
EEKKCFDLISHDRTYHFQAEDEQECQIWMSVLQNSKE
EALNNAFKGDDNTGENNIVQELT
KEIISEVQRMTGNDVCCDCGAPDPTWLSTNLGILTCIECSGIHRELGVHYSRMQSLTLDV
LGTSELLLAKNIGNAGFNEIMECCLPAEDSVKPNPGSDMNARKDYITAKYIERRYARKK
H
ADNAAKLHSLCEAVKTRDIFGLLQAYADGVDLTEKIPLANGHEPDETALHLAVRSVDRTS
LHIVDFLVQNSGNLDKQTGKGSTALHYCCLTDNAECLKLLLRGKASIEIANESGETPLDI
AKRLKHEHCEELLTQALSGRFNSHVHVEYEWRLLHEDLDESDDDMDEKLQPSPNRREDRP
ISFYQLGSNQLQSNAVSLARDAANLAKEKQRAFMPSILQNETYGALLSGSPPPAQPAAPS
TTSAPPLPPRNVGKVQTASSANTLWKTNSVSVDGGSRQRSSSDPPAVHPPLPPLRVTSTN
PLTPTPPPPVAKTPSVMEALSQPSKPAPPGISQIRPPPLPPQPPSRLPQKKPAPGADKST
PLTNKGQPRGPVDLSATEALGPLSNAMVLQPPAPMPRKSQATKLKPKRVKALYNCVADNP
DELTFSEGDVIIVDGEEDQEWWIGHIDGDPGRKGAFPVSFVH
FIAD
Sequence length 1006
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Endocytosis
Fc gamma R-mediated phagocytosis
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
7
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colon adenocarcinoma Benign rs34464740 RCV005908126
Colorectal cancer Benign rs34464740 RCV005908128
Gastric cancer Uncertain significance; Benign rs752573155, rs34464740 RCV005930889
RCV005908129
Nonpapillary renal cell carcinoma Benign rs34464740 RCV005908127
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Stimulate 40033250
Anemia Sickle Cell Associate 39209956
Carcinoma Hepatocellular Associate 38320622
Carcinoma Renal Cell Associate 25230976
Episodic Ataxia Associate 39209956
Neoplasm Metastasis Associate 34486534
Neoplasms Associate 37914932
Pituitary Neoplasms Associate 24198235
Stomach Neoplasms Associate 34486534