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CDKN2AIP Gene

protein-coding   GIFtS: 48
GCID: GC04P184365

CDKN2A Interacting Protein

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
CDKN2A Interacting Protein1 2
Collaborates/Cooperates With ARF (Alternate Reading Frame) Protein1 2
Collaborator Of ARF2 3
CARF2 3
CDKN2A-Interacting Protein2

External Ids:    HGNC: 243251   Entrez Gene: 556022   Ensembl: ENSG000001685647   UniProtKB: Q9NXV63   

Export aliases for CDKN2AIP gene to outside databases

Previous GC identifers: GC04P184603 GC04P180125


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CDKN2AIP Gene:
CDKN2AIP (CDKN2A interacting protein) is a protein-coding gene. Diseases associated with CDKN2AIP include multiple myeloma, and myeloma. GO annotations related to this gene include RNA binding and p53 binding. An important paralog of this gene is CDKN2AIPNL.

UniProtKB/Swiss-Prot: CARF_HUMAN, Q9NXV6
Function: Activates p53/TP53 by CDKN2A-dependent and CDKN2A-independent pathways




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000004.12  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CDKN2AIP gene promoter:
         GR   AML1a   GR-beta   CUTL1   Tal-1beta   POU3F2   E47   FOXJ2 (long isoform)   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCDKN2AIP promoter sequence
   Search Chromatin IP Primers for CDKN2AIP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CDKN2AIP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q35.1   Ensembl cytogenetic band:  4q35.1   HGNC cytogenetic band: 4q35.1

CDKN2AIP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CDKN2AIP gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P184365:  view genomic region     (about GC identifiers)

Start:
184,365,744 bp from pter      End:
184,369,351 bp from pter
Size:
3,608 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CARF_HUMAN, Q9NXV6 (See protein sequence)
Recommended Name: CDKN2A-interacting protein  
Size: 580 amino acids; 61125 Da
Subunit: Interacts with CDKN2A/p14ARF, p53/TP53 and MDM2
Sequence caution: Sequence=AAF68967.1; Type=Frameshift; Positions=4;
Secondary accessions: Q8TBM5 Q9NYH0

Explore the universe of human proteins at neXtProt for CDKN2AIP: NX_Q9NXV6

Explore proteomics data for CDKN2AIP at MOPED

Post-translational modifications: 

  • May be ubiquitinated1
  • Ubiquitination2 at Lys99
  • Modification sites at PhosphoSitePlus

  • See CDKN2AIP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060102.1  
    ENSEMBL proteins: 
     ENSP00000427108   ENSP00000303788   ENSP00000421308  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR021859 DUF3469
     IPR014720 dsRNA-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q9NXV6

    ProtoNet protein and cluster: Q9NXV6

    UniProtKB/Swiss-Prot: CARF_HUMAN, Q9NXV6
    Similarity: Belongs to the CARF family
    Similarity: Contains 1 DRBM (double-stranded RNA-binding) domain


    CDKN2AIP for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CARF_HUMAN, Q9NXV6
    Function: Activates p53/TP53 by CDKN2A-dependent and CDKN2A-independent pathways

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002039p53 binding IDA15109303
    GO:0003723RNA binding IEA--
    GO:0005515protein binding IPI12581788
         
    CDKN2AIP for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CDKN2AIP
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CDKN2AIP

    miRNA
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    miRTarBase miRNAs that target CDKN2AIP:
    hsa-mir-124-3p (MIRT022595), hsa-mir-652-3p (MIRT039491), hsa-mir-34a-5p (MIRT025391)

    Block miRNA regulation of human, mouse, rat CDKN2AIP using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate CDKN2AIP:
    hsa-miR-3671 hsa-miR-379 hsa-miR-548e hsa-miR-545 hsa-miR-548a-3p hsa-miR-544 hsa-miR-3121-3p hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidCDKN2AIP 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDKN2AIP


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CARF_HUMAN, Q9NXV6: Nucleus, nucleoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001652granular component IDA12154087
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm IDA12154087
    GO:0005730nucleolus IDA12154087
    GO:0005737cytoplasm IDA--

    CDKN2AIP for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CDKN2AIP
    Interactions:

        GeneGlobe Interaction Network for CDKN2AIP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for CDKN2AIP (Q9NXV62, 3 ENSP000003037884) via UniProtKB, MINT, STRING, and/or I2D (see all 777)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDC5LQ994592, ENSP000003605324MINT-7945693 MINT-7947479 STRING: ENSP00000360532
    SNW1Q135732, ENSP000002615314MINT-7945693 MINT-7947479 STRING: ENSP00000261531
    DHX58Q96C103, ENSP000002516424I2D: score=1 STRING: ENSP00000251642
    RAD21O602162, ENSP000002973384MINT-7945693 STRING: ENSP00000297338
    ABCF1Q8NE712MINT-7945693 MINT-7947479
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009967positive regulation of signal transduction IMP15109303
    GO:0030308negative regulation of cell growth IMP12154087
    GO:0031647regulation of protein stability IMP12154087

    CDKN2AIP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CDKN2AIP (CARF)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CDKN2AIP gene: 
    NM_017632.2  

    Unigene Cluster for CDKN2AIP:

    CDKN2A interacting protein
    Hs.644077  [show with all ESTs]
    Unigene Representative Sequence: AF246705
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000504169(uc003ivp.1) ENST00000302350(uc003ivq.1) ENST00000510928
    ENST00000506835 ENST00000502924
    miRNA
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    8 qRT-PCR Assays for microRNAs that regulate CDKN2AIP:
    hsa-miR-3671 hsa-miR-379 hsa-miR-548e hsa-miR-545 hsa-miR-548a-3p hsa-miR-544 hsa-miR-3121-3p hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidCDKN2AIP 3' UTR sequence
    Inhib. RNA
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CDKN2AIP
      QuantiTect SYBR Green Assays in human, mouse, rat CDKN2AIP
      QuantiFast Probe-based Assays in human, mouse, rat CDKN2AIP

    Additional mRNA sequence: 

    AF246705.1 AK000043.1 AK096180.1 AK225848.1 BC022270.1 BX538162.1 

    8 DOTS entries:

    DT.101982926  DT.444684  DT.102825022  DT.95165760  DT.121242685  DT.100772181  DT.91944931  DT.40294567 

    Selected AceView cDNA sequences (see all 120):

    CR623662 CB135399 CF264679 AA975011 AI636868 BX360811 BX096398 BX423525 
    AK000043 BX394679 AA705963 AK096180 AI954610 AA622329 CB153556 AI769671 
    NM_017632 BU634171 AI207258 AI521910 AU279409 CB136069 H85892 BQ549226 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CDKN2AIP    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c
    SP1:              -           -     -                     
    SP2:              -                 -                     
    SP3:                          -     -                     
    SP4:              -                                       


    ECgene alternative splicing isoforms for CDKN2AIP

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CDKN2AIP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATGTGGGTT
    CDKN2AIP Expression
    About this image


    CDKN2AIP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Eye (Sensory Organs)
             Retina
    CDKN2AIP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CDKN2AIP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.644077

    UniProtKB/Swiss-Prot: CARF_HUMAN, Q9NXV6
    Tissue specificity: Ubiquitously expressed

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CDKN2AIP gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cdkn2aip1 , 5 CDKN2A interacting protein1, 5 85.13(n)1
    86.74(a)1
      8 (26.88 cM)5
    709251  NM_172407.31  NP_765995.11 
     477093445 
    chicken
    (Gallus gallus)
    Aves CDKN2AIP6
    CDKN2A interacting protein
    45(a)
    1 ↔ 1
    4(39278893-39281865)
    lizard
    (Anolis carolinensis)
    Reptilia CDKN2AIP6
    CDKN2A interacting protein
    44(a)
    1 ↔ 1
    5(113826720-113831499)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC686902 hypothetical protein MGC68690 75.72(n)    BC060029.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cdkn2aip1 CDKN2A interacting protein 56.98(n)
    54.65(a)
      450065  NM_001006085.1  NP_001006085.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG313016
    --
    13(a)
    1 → many
    3R(11171953-11173734)


    ENSEMBL Gene Tree for CDKN2AIP (if available)
    TreeFam Gene Tree for CDKN2AIP (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CDKN2AIP gene
    CDKN2AIPNL2  NKRF2  
    2 SIMAP similar genes for CDKN2AIP using alignment to 3 protein entries:     CARF_HUMAN (see all proteins):
    DKFZp686M0665    CDKN2AIPNL

    CDKN2AIP for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CDKN2AIP (see all 187)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs105804671,2
    C--180123828(+) TCTCC-/ACCTTTT 1 -- us2k10--------
    rs1147900571,2
    C,F--184363835(+) CACCTG/TGTTTT 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1847042091,2
    --184363836(+) ACCTGG/TTTTTT 1 -- us2k10--------
    rs43158391,2
    C,F,A,H--184363856(+) CTCCAT/CCTTTC 1 -- us2k128Minor allele frequency- C:0.46NS EA NA WA 2950
    rs1891034001,2
    --184363880(+) TTTATA/TATAAT 1 -- us2k10--------
    rs42417681,2
    C,A--184363887(+) TAATTA/TAAAAA 1 -- us2k16Minor allele frequency- T:0.48NA WA EA 364
    rs797986761,2
    C,F--184363937(+) GCAATG/AAAGCC 1 -- us2k11Minor allele frequency- A:0.19EA 120
    rs784330831,2
    C,F--184363944(+) AGCCCA/CTGAGT 1 -- us2k12Minor allele frequency- C:0.10WA EA 238
    rs1814570111,2
    --184363968(+) CAGGGC/TAACAA 1 -- us2k10--------
    rs1499896091,2
    --184363978(+) AGAAAA/GAAAGT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CDKN2AIP (184365744 - 184369351 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CDKN2AIP:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv26305CNV Gain19812545

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CDKN2AIP
    DNA2.0 Custom Variant and Variant Library Synthesis for CDKN2AIP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    2 diseases for CDKN2AIP:    
    About MalaCards
    multiple myeloma    myeloma


    CDKN2AIP for disorders           About GeneDecksing


    Export disorders for CDKN2AIP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CDKN2AIP gene, integrated from 10 sources (see all 29):
    (articles sorted by number of sources associating them with CDKN2AIP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CARF is a novel protein that cooperates with mouse p19ARF (human p14ARF) in activating p53. (PubMed id 12154087)1, 2, 3 Hasan M.K.... Wadhwa R. (J. Biol. Chem. 2002)
    2. CARF binds to three members (ARF, p53, and HDM2) of the p53 tumor- suppressor pathway. (PubMed id 17460193)1, 2 Kamrul H.M.... Kaul S.C. (Ann. N. Y. Acad. Sci. 2007)
    3. CARF regulates p19ARF-p53-p21WAF1 senescence pathway by multiple checkpoints. (PubMed id 16803988)1, 3 Kaul S.C....Wadhwa R. (Ann. N. Y. Acad. Sci. 2006)
    4. Alternative reading frame protein (ARF)-independent function of CARF (collaborator of ARF) involves its interactions with p53: evidence for a novel p53-activation pathway and its negative feedback control. (PubMed id 15109303)1, 2 Hasan M.K....Kaul S.C. (Biochem. J. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. A novel putative collaborator of p19ARF. (PubMed id 12581788)1, 2 Wadhwa R.... Kaul S.C. (Exp. Gerontol. 2003)
    7. VCP phosphorylation-dependent interaction partners prevent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PubMed id 23383273)1 Yu C.C....Chow L.P. (PLoS ONE 2013)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    9. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)
    10. A cohesin-RAD21 interactome. (PubMed id 22145905)1 Panigrahi A.K....Pati D. (Biochem. J. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55602 HGNC: 24325 AceView: CARF Ensembl:ENSG00000168564 euGenes: HUgn55602
    ECgene: CDKN2AIP H-InvDB: CDKN2AIP

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CDKN2AIP Pharmacogenomics, SNPs, Pathways

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