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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ADNP2 Gene

protein-coding   GIFtS: 45
GCID: GC18P077866

ADNP Homeobox 2

(Previous name: zinc finger protein 508)
(Previous symbol: ZNF508)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
ADNP Homeobox 21 2
Zinc Finger Protein 5081 2 3
ZNF5081 2 3
ADNP Homeobox Protein 22
KIAA08633

External Ids:    HGNC: 238031   Entrez Gene: 228502   Ensembl: ENSG000001015447   UniProtKB: Q6IQ323   

Export aliases for ADNP2 gene to outside databases

Previous GC identifers: GC18P075968 GC18P074488


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for ADNP2 Gene: 
ADNP2 (ADNP homeobox 2) is a protein-coding gene. Diseases associated with ADNP2 include schizophrenia. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is ADNP.

UniProtKB/Swiss-Prot: ADNP2_HUMAN, Q6IQ32
Function: May be involved in transcriptional regulation




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NT_025028.14  NC_018929.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ADNP2 gene promoter:
         LCR-F1   CBF-C   S8   CBF-B   CBF-A   CP1A   CP1C   NF-Y   Pax-4a   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidADNP2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ADNP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ADNP2


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

Entrez Gene cytogenetic band: 18q23   Ensembl cytogenetic band:  18q23   HGNC cytogenetic band: 18q23

ADNP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ADNP2 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P077866:  view genomic region     (about GC identifiers)

Start:
77,866,915 bp from pter      End:
77,905,406 bp from pter
Size:
38,492 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ADNP2_HUMAN, Q6IQ32 (See protein sequence)
Recommended Name: ADNP homeobox protein 2  
Size: 1131 amino acids; 122833 Da
Subcellular location: Nucleus (Probable)
Sequence caution: Sequence=BAA74886.2; Type=Erroneous initiation; Sequence=BAB14180.1; Type=Frameshift;
Positions=466;
Secondary accessions: A8K951 O94943 Q9H9P3

Explore the universe of human proteins at neXtProt for ADNP2: NX_Q6IQ32

Explore proteomics data for ADNP2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6IQ32

  • ADNP2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ADNP2 Protein Expression
    REFSEQ proteins: NP_055728.1  
    ENSEMBL proteins: 
     ENSP00000262198   ENSP00000453418   ENSP00000453275   ENSP00000468397   ENSP00000467370  

    Human Recombinant Protein Products for ADNP2: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ADNP2 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005634nucleus IEA--

    ADNP2 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for ADNP2 
    Cloud-Clone Corp. CLIAs for ADNP2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ZFHX: Homeoboxes / ZF class
    ZNF: Zinc fingers, C2H2-type

    4 InterPro protein domains:
     IPR015880 Znf_C2H2-like
     IPR001356 Homeodomain
     IPR009057 Homeodomain-like
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry Q6IQ32

    ProtoNet protein and cluster: Q6IQ32

    UniProtKB/Swiss-Prot: ADNP2_HUMAN, Q6IQ32
    Similarity: Belongs to the krueppel C2H2-type zinc-finger protein family
    Similarity: Contains 4 C2H2-type zinc fingers
    Similarity: Contains 1 homeobox DNA-binding domain


    ADNP2 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ADNP2_HUMAN, Q6IQ32
    Function: May be involved in transcriptional regulation

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI--
    GO:0008270zinc ion binding ----
         
    ADNP2 for ontologies           About GeneDecksing


    Animal Models:
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ADNP2

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

    5/6 Interacting proteins for ADNP2 (Q6IQ321, 3 ENSP000002621984) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NFYCQ139523, ENSP000003966204I2D: score=3 STRING: ENSP00000396620
    CBX1P839161, ENSP000002256034EBI-2838654,EBI-78129 STRING: ENSP00000225603
    CBX3ENSP000003366874STRING: ENSP00000336687
    CBX5ENSP000002098754STRING: ENSP00000209875
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0030182neuron differentiation ISS--
    GO:0030307positive regulation of cell growth ISS--
    GO:0034599cellular response to oxidative stress ISS--

    ADNP2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ADNP2

    Search CenterWatch for drugs/clinical trials and news about ADNP2

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ADNP2 gene: 
    NM_014913.3  

    Unigene Cluster for ADNP2:

    ADNP homeobox 2
    Hs.131915  [show with all ESTs]
    Unigene Representative Sequence: BC071589
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262198(uc002lnw.3) ENST00000560752 ENST00000559951 ENST00000560561
    ENST00000561195
    miRNA
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    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ADNP2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ADNP2

    Additional mRNA sequence: 

    AB020670.1 AK022688.1 AK023032.1 AK292566.1 BC071589.1 

    8 DOTS entries:

    DT.212497  DT.121087656  DT.91744523  DT.100749404  DT.95168931  DT.100733293  DT.121087677  DT.100033852 

    24/166 AceView cDNA sequences (see all 166):

    AI968903 BM474860 AA553759 BE900319 AI332889 CA314117 CK819847 AI573177 
    AI539599 BM141763 AW651700 AA442082 AA832209 AI587477 CB960003 AI364173 
    AI479487 AW275539 BX345459 BQ891862 AL553984 AW673161 AA301227 BM984250 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for ADNP2    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c
    SP1:                                                      
    SP2:        -                       -                     
    SP3:                                -                     


    ECgene alternative splicing isoforms for ADNP2

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ADNP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAATTGCTAT
    ADNP2 Expression
    About this image


    See ADNP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ADNP2

    SOURCE GeneReport for Unigene cluster: Hs.131915
        SABiosciences Custom PCR Arrays for ADNP2
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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for ADNP2 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Adnp21 , 5 ADNP homeobox 21, 5 79.79(n)1
    80.62(a)1
      18 (53.28 cM)5
    2404421  NM_175028.11  NP_778193.11 
     801263385 
    chicken
    (Gallus gallus)
    Aves ADNP21 ADNP homeobox 2 66.63(n)
    62.51(a)
      420805  XM_418898.3  XP_418898.1 
    lizard
    (Anolis carolinensis)
    Reptilia ADNP26
    Uncharacterized protein
    51(a)
    1 ↔ 1
    4(53239292-53245855)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.171802 Xenopus laevis transcribed sequence with weak similarity more 75.98(n)    AW643056.1 
    zebrafish
    (Danio rerio)
    Actinopterygii adnp2b6
    adnp2a6
    ADNP homeobox 2a
    31(a)
    30(a)
    1 ↔ many
    1 ↔ many
    19(21268021-21274770)
    16(27612995-27620184)


    ENSEMBL Gene Tree for ADNP2 (if available)
    TreeFam Gene Tree for ADNP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ADNP2 gene
    ADNP2  
    1 SIMAP similar gene for ADNP2 using alignment to 5 protein entries:     ADNP2_HUMAN (see all proteins):
    ADNP

    ADNP2 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/842 SNPs in ADNP2 are shown (see all 842)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1837072091,2
    --74486726(+) TGGAGA/CTGGGG 1 -- us2k10--------
    rs118727831,2
    H--77864942(+) tgaatC/Ttgagt 1 -- us2k10--------
    rs729763431,2
    C,F--77865159(+) AGTGGC/AGCATA 1 -- us2k11Minor allele frequency- A:0.12NA 120
    rs1885850821,2
    --77865172(+) TGCTGC/TACCGT 1 -- us2k10--------
    rs579145411,2
    C--77865307(+) GGTGT-/T/TG  
            
    GGGGG
    1 -- us2k11NA 2
    rs1139541671,2
    C--77865308(+) GGTGTG/-GGGGG 1 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs1487243281,2
    --77865356(+) CAGTTC/GCCGAG 1 -- us2k10--------
    rs1925833971,2
    --77865845(+) CATATC/TGGCCC 1 -- us2k10--------
    rs1413990661,2
    --77865909(+) GTGTTC/TAGTCA 1 -- us2k10--------
    rs1508552381,2
    C--77865922(+) GGGCTA/GAACTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ADNP2 (77866915 - 77905406 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for ADNP2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv910009CNV Loss21882294
    nsv428359CNV Gain18775914
    dgv3495n71CNV Gain21882294
    nsv828347CNV Gain20364138
    nsv458317CNV Gain19166990
    esv275287CNV Gain+Loss21479260

    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section
    2 diseases for ADNP2:    About MalaCards
    schizophrenia    


    ADNP2 for disorders           About GeneDecksing


    Export disorders for ADNP2 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)
    About This Section

    PubMed articles for ADNP2 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with ADNP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10048485)1, 2 Nagase T....Ohara O. (1998)
    4. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    5. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    6. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    7. Activity-dependent neuroprotective protein (ADNP) exp ression level is correlated with the expression of the sister protein ADNP2: de regulation in schizophrenia. (PubMed id 20598862)1 Dresner E....Gozes I. (2011)
    8. Analysis of the human HP1 interactome reveals novel bi nding partners. (PubMed id 21888893)1 Rosnoblet C....Angrand P.O. (2011)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. A human MAP kinase interactome. (PubMed id 20936779)1 Bandyopadhyay S....Ideker T. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 22850 HGNC: 23803 AceView: KIAA0863 Ensembl:ENSG00000101544 euGenes: HUgn22850
    ECgene: ADNP2 H-InvDB: ADNP2

    (According to HUGE)
    About This Section
    HUGE: KIAA0863

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ADNP2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ADNP2 gene:
    Search GeneIP for patents involving ADNP2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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