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ANKRD31 Gene

protein-coding   GIFtS: 40
GCID: GC05M074364          (predicted)

Ankyrin Repeat Domain 31

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(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
Ankyrin Repeat Domain 311 2
Ankyrin Repeat Domain-Containing Protein 312
Putative Ankyrin Repeat Domain-Containing Protein 312

External Ids:    HGNC: 268531   Entrez Gene: 2560062   Ensembl: ENSG000001457007   UniProtKB: Q8N7Z53   

Export aliases for ANKRD31 gene to outside databases

Previous GC identifers: GC05M074460 GC05M074399 GC05M074477 GC05M069568


(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 ANKRD31 Gene:
ANKRD31 (ankyrin repeat domain 31) is a protein-coding gene. An important paralog of this gene is BARD1.


(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 at NCBI GenBank:
NC_000005.9  NC_018916.2  NT_034772.7  
Regulatory elements:
   Regulatory transcription factor binding sites in the ANKRD31 gene promoter:
         CP2   AP-1   Nkx6-1   COMP1   Olf-1   Lmo2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for ANKRD31

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ANKRD31


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

Entrez Gene cytogenetic band: 5q13.3   Ensembl cytogenetic band:  5q13.3   HGNC cytogenetic band: 5q13.3

ANKRD31 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANKRD31 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M074364:  view genomic region     (about GC identifiers)

Start:
74,364,100 bp from pter      End:
74,532,703 bp from pter
Size:
168,604 bases      Orientation:
minus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ANR31_HUMAN, Q8N7Z5 (See protein sequence)
Recommended Name: Putative ankyrin repeat domain-containing protein 31  
Size: 1873 amino acids; 210816 Da
Caution: Product of a dubious CDS prediction

Explore the universe of human proteins at neXtProt for ANKRD31: NX_Q8N7Z5

Explore proteomics data for ANKRD31 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ANKRD31 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001157915.1  
    ENSEMBL proteins: 
     ENSP00000427262   ENSP00000274361  

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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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    HGNC Gene Families:
    ANKRD: Ankyrin repeat domain containing

    2 InterPro protein domains:
     IPR002110 Ankyrin_rpt
     IPR020683 Ankyrin_rpt-contain_dom

    Graphical View of Domain Structure for InterPro Entry Q8N7Z5

    ProtoNet protein and cluster: Q8N7Z5

    1 Blocks protein domain: IPB002110 Ankyrin repeat signature

    UniProtKB/Swiss-Prot: ANR31_HUMAN, Q8N7Z5
    Similarity: Contains 6 ANK repeats


    Find genes that share domains with ANKRD31           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with ANKRD31           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for ANKRD31:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e  Elongated cells 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ANKRD31

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    (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 COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2
    cytoskeleton1

    (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 ANKRD31
    Interactions:

        Search GeneGlobe Interaction Network for ANKRD31

    (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 ANKRD31 (ANR31)



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ANKRD31 gene: 
    NM_001164443.1  

    Unigene Cluster for ANKRD31:

    Ankyrin repeat domain 31
    Hs.482533  [show with all ESTs]
    Unigene Representative Sequence: NM_001164443
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000504022 ENST00000506364 ENST00000274361(uc003kdo.2)
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    Additional mRNA sequence: AK097510.1 

    3 DOTS entries:

    DT.405475  DT.95093939  DT.99930602 

    1 AceView cDNA sequence:

    AK097510 

    GeneLoc Exon Structure


    (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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    ANKRD31 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ANKRD31 Expression
    About this image

    ANKRD31 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ANKRD31 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.482533
        Custom PCR Arrays for ANKRD31
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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 and fungi.

    Orthologs for ANKRD31 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ankrd311 , 5 ankyrin repeat domain 311, 5 73.1(n)1
    56.09(a)1
      135
    6256621  XM_006517798.11  XP_006517861.11 
    chicken
    (Gallus gallus)
    Aves ANKRD316
    ankyrin repeat domain 31
    39(a)
    1 ↔ 1
    Z(23920724-23944460)
    lizard
    (Anolis carolinensis)
    Reptilia ANKRD316
    ankyrin repeat domain 31
    49(a)
    1 ↔ 1
    2(14957892-14966835)
    zebrafish
    (Danio rerio)
    Actinopterygii ankrd316
    ankyrin repeat domain 31
    25(a)
    1 ↔ 1
    5(52688226-52697298) ENSDARG00000052731
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HOS46
    Subunit of the Set3 complex, which is a meiotic-sp...
    12(a)
    1 → many
    IX(151595-154846) YIL112W


    ENSEMBL Gene Tree for ANKRD31 (if available)
    TreeFam Gene Tree for ANKRD31 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ANKRD31 gene
    BARD12  BCOR2  ANKRD112  TONSL2  ANKRD322  ANKRD122  BCORL12  
    4 SIMAP similar genes for ANKRD31 using alignment to 3 protein entries:     ANR31_HUMAN (see all proteins):
    PPP1R12A    NRARP    DKFZp761E1322    MTPN

    Find genes that share paralogs with ANKRD31           About GenesLikeMe



    (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 ANKRD31 (see all 4053)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2018890051,2
    --74363713(+) ATCTC-/TTTTTT 1 -- ds50010--------
    rs1130337451,2
    C--74363720(+) TTTTT-/ATAAAA 1 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs574881581,2
    --74363721(+) TTTTTA/TAAAAA 1 -- ds50010--------
    rs1481281681,2
    C--74363721(+) TTTTT-/A/TAAAAA 1 -- ds50010--------
    rs77229051,2
    C,F,A,H--74363743(+) ATAATG/ATAGCA 1 -- ds500124Minor allele frequency- A:0.10NA NS EA WA CSA 2346
    rs1430938361,2
    --74363786(+) TGATCA/GGACTC 1 -- ds50010--------
    rs1855572491,2
    --74363856(+) CACTAA/CATTTT 1 -- ds50010--------
    rs1903126481,2
    --74363970(+) AACCTA/GGGCCT 1 -- ds50010--------
    rs744316441,2
    C,F--74363985(+) AGGACC/AAATTA 1 -- ds50011Minor allele frequency- A:0.05NA 120
    rs1114114641,2
    C,F--74364157(+) AATGGG/CAAAAA 1 -- ut311Minor allele frequency- C:0.50CSA 2

    HapMap Linkage Disequilibrium report for ANKRD31 (74364100 - 74532703 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for ANKRD31:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv4879CNV Insertion18451855
    nsv4880CNV Insertion18451855
    nsv509073CNV Insertion20534489
    nsv882189CNV Loss21882294
    dgv6182n71CNV Loss21882294
    nsv327808CNV Loss16902084
    dgv1812e1CNV Complex17122850

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    Find genes that share disorders with ANKRD31           About GenesLikeMe

    Genetic Association Database (GAD): ANKRD31

    Export disorders for ANKRD31 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 ANKRD31 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with ANKRD31)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    3. Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). (PubMed id 22952603)1 Hart A.B....Palmer A.A. (PLoS ONE 2012)
    4. Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13. (PubMed id 18802019)4 Burkhardt R....Breslow J.L. (Arterioscler. Thromb. Vasc. Biol. 2008)
    5. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PubMed id 17903300)4 Fox C.S....Atwood L.D. (BMC Med. Genet. 2007)
    6. The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)2 Schmutz J.... Rubin E.M. (Nature 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 256006 HGNC: 26853 AceView: ANKRD31.1 Ensembl:ENSG00000145700 euGenes: HUgn256006
    ECgene: ANKRD31 H-InvDB: ANKRD31

    (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 ANKRD31 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ANKRD31 gene:
    Search GeneIP for patents involving ANKRD31

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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