Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
116985
Gene name Gene Name - the full gene name approved by the HGNC.
ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ARAP1
Synonyms (NCBI Gene) Gene synonyms aliases
CENTD2, cnt-d2
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.4
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene contains SAM, ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology (PH) domains. In vitro, this protein displays RHO-GAP and phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP activit
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT042346 hsa-miR-484 CLASH 23622248
MIRT040872 hsa-miR-18a-3p CLASH 23622248
MIRT646433 hsa-miR-4323 HITS-CLIP 23824327
MIRT646432 hsa-miR-4267 HITS-CLIP 23824327
MIRT646431 hsa-miR-938 HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001726 Component Ruffle IEA
GO:0001921 Process Positive regulation of receptor recycling IEA
GO:0002090 Process Regulation of receptor internalization IMP 18939958
GO:0002102 Component Podosome IEA
GO:0002102 Component Podosome ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606646 16925 ENSG00000186635
Protein
UniProt ID Q96P48
Protein name Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 1 (Centaurin-delta-2) (Cnt-d2)
Protein function Phosphatidylinositol 3,4,5-trisphosphate-dependent GTPase-activating protein that modulates actin cytoskeleton remodeling by regulating ARF and RHO family members (PubMed:11804590, PubMed:19666464). Activated by phosphatidylinositol 3,4,5-trisph
PDB 4X1V
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00536 SAM_1 7 68 SAM domain (Sterile alpha motif) Domain
PF00169 PH 328 419 PH domain Domain
PF01412 ArfGap 535 653 Putative GTPase activating protein for Arf Domain
PF00169 PH 744 849 PH domain Domain
PF00620 RhoGAP 971 1123 RhoGAP domain Domain
PF00788 RA 1172 1261 Ras association (RalGDS/AF-6) domain Domain
PF00169 PH 1275 1396 PH domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in heart, skeletal muscle, spleen, kidney, liver, placenta, lung, peripheral blood leukocytes, adrenal gland, bone marrow, brain, lymph node, mammary gland, prostate, spinal cord, stomach, thyroid and trachea. {ECO:0000269|Pub
Sequence
MAEAGDAALSVAEWLRALHLEQYTGLFEQHGLVWATECQGLSDTRLMDMGMLLPGHRRRI
LAGLLRAH
TSPAPAPRPTPRPVPMKRHIFRSPPVPATPPEPLPTTTEDEGLPAAPPIPPR
RSCLPPTCFTTPSTAAPDPVLPPLPAKRHLAELSVPPVPPRTGPPRLLVSLPTKEEESLL
PSLSSPPQPQSEEPLSTLPQGPPQPPSPPPCPPEIPPKPVRLFPEFDDSDYDEVPEEGPG
APARVMTKKEEPPPSRVPRAVRVASLLSEGEELSGDDQGDEEEDDHAYEGVPNGGWHTSS
LSLSLPSTIAAPHPMDGPPGGSTPVTPVIKAGWLDKNPPQGSYIYQKRWVRLDTDHLRYF
DSNKDAYSKRFISVACISHVAAIGDQKFEVITNNRTFAFRAESDVERKEWMQALQQAMA
E
QRARARLSSAYLLGVPGSEQPDRAGSLELRGFKNKLYVAVVGDKVQLYKNLEEYHLGIGI
TFIDMSVGNVKEVDRRSFDLTTPYRIFSFSADSELEKEQWLEAMQGAIAEALSTSEVAER
IWAAAPNRFCADCGAPQPDWASINLCVVICKRCAGEHRGLGAGVSKVRSLKMDRKVWTET
LIELFLQLGNGAGNRFWAANVPPSEALQPSSSPSTRRCHLEAKYREGKYRRYH
PLFGNQE
ELDKALCAAVTTTDLAETQALLGCGAGINCFSGDPEAPTPLALAEQAGQTLQMEFLRNNR
TTEVPRLDSMKPLEKHYSVVLPTVSHSGFLYKTASAGKLLQDRRAREEFSRRWCVLGDGV
LSYFENERAVTPNGEIRASEIVCLAVPPPDTHGFEHTFEVYTEGERLYLFGLESAEQAHE
WVKCIAKAF
VPPLAEDLLARDFERLGRLPYKAGLSLQRAQEGWFSLSGSELRAVFPEGPC
EEPLQLRKLQELSIQGDSENQVLVLVERRRTLYIQGERRLDFMGWLGAIQKAAASMGDTL
SEQQLGDSDIPVIVYRCVDYITQCGLTSEGIYRKCGQTSKTQRLLESLRQDARSVHLKEG
EQHVDDVSSALKRFLRDLPDGLFTRAQRLTWLEASEIEDEEEKVSRYRELLVRLPPVNRA
TVKALISHLYCVQCFSDTNQMNVHNLAIVFGPTLFQTDGQDYK
AGRVVEDLINHYVVVFS
VDEEELRKQREEITAIVKMRVAGTASGTQHAGDFICTVYLEEKKAETEQHIKVPASMTAE
ELTLEILDRRNVGIREKDYWTCFEVNEREEAERPLHFAEKVLPILHGLGTDSHLVVKKHQ
A
MEAMLLYLASRVGDTKHGMMKFREDRSLLGLGLPSGGFHDRYFILNSSCLRLYKEVRSQ
RPWSGAPETSHRPEKEWPIKSLKVYLGVKKKLRPPTCWGFTVVHETEKHEKQQWYLCCDT
QMELREWFATFLFVQH
DGLVWPSEPSRVSRAVPEVRLGSVSLIPLRGSENEMRRSVAAFT
ADPLSLLRNV
Sequence length 1450
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Endocytosis   Rho GTPase cycle
PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1
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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
Diabetes Body mass index and type 2 diabetes (pairwise), Body fat percentage and type 2 diabetes (pairwise), Type 2 diabetes (PheCode 250.2), Type 2 diabetes, Type 2 diabetes (adjusted for BMI) N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Rheumatoid arthritis Rheumatoid arthritis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 35291911
Arthritis Rheumatoid Associate 23577190
Breast Neoplasms Associate 20554524, 32110804
Carcinoma Renal Cell Associate 34516333
Colorectal Neoplasms Associate 32141550
Diabetes Gestational Associate 25973943
Diabetes Mellitus Associate 22662265
Diabetes Mellitus Type 2 Associate 21267535, 22662265, 25587982, 30089489, 32260174, 32578971, 32922204
Diabetes Mellitus Type 2 Stimulate 21873549, 30089489
Insulin Resistance Associate 30089489