Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8853
Gene name Gene Name - the full gene name approved by the HGNC.
ArfGAP with SH3 domain, ankyrin repeat and PH domain 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ASAP2
Synonyms (NCBI Gene) Gene synonyms aliases
AMAP2, CENTB3, DDEF2, PAG3, PAP, Pap-alpha, SHAG1
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p25.1|2p24
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 factor Regulation Reference
CTCF Unknown 23999061
VDR Unknown 23999061
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603817 2721 ENSG00000151693
Protein
UniProt ID 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
 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Bipolar Disorder Bipolar disorder N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Multiple Sclerosis Multiple sclerosis N/A N/A GWAS
Associations from Text Mining Disease 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