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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANKYLOSING SPONDYLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 30050497
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 40033250 Stimulate
★☆☆☆☆
Found in Text Mining only
Androgen-Insensitivity Syndrome Androgen-Insensitivity Syndrome BEFREE 17481701
★☆☆☆☆
Found in Text Mining only
Anemia Sickle Cell Sickle cell anemia Pubtator 39209956 Associate
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis GWASCAT_DG 26974007
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation Atrial Fibrillation BEFREE 30373693
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder GWASCAT_DG 31043756
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 38320622 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma in situ of uterine cervix Cervical Intraepithelial Neoplasia BEFREE 11042905
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 25230976 Associate
★☆☆☆☆
Found in Text Mining only