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ANKRD34B Gene

protein-coding   GIFtS: 42
GCID: GC05M079888

Ankyrin Repeat Domain 34B

  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)
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Aliases
Ankyrin Repeat Domain 34B1 2
DP582
Ankyrin Repeat Domain-Containing Protein 34B2
Cytosolic Phosphoprotein DP582
Dendritic Phosphoprotein 58 KDa2

External Ids:    HGNC: 337361   Entrez Gene: 3401202   Ensembl: ENSG000001891277   UniProtKB: A5PLL13   

Export aliases for ANKRD34B gene to outside databases

Previous GC identifer: GC05M075060


(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 ANKRD34B Gene:
ANKRD34B (ankyrin repeat domain 34B) is a protein-coding gene. Diseases associated with ANKRD34B include cerebritis. An important paralog of this gene is ANKRD34C.


(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_000005.10  NT_034772.7  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ANKRD34B gene promoter:
         AML1a   MyoD   NF-kappaB   YY1   E47   HSF2   Hand1   Pax-4a   NF-kappaB1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ANKRD34B promoter sequence
   Search Chromatin IP Primers for ANKRD34B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ANKRD34B


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

Entrez Gene cytogenetic band: 5q14.1   Ensembl cytogenetic band:  5q14.1   HGNC cytogenetic band: 5q14.1

ANKRD34B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANKRD34B gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M079888:  view genomic region     (about GC identifiers)

Start:
79,852,574 bp from pter      End:
79,866,307 bp from pter
Size:
13,734 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, 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AN34B_HUMAN, A5PLL1 (See protein sequence)
Recommended Name: Ankyrin repeat domain-containing protein 34B  
Size: 514 amino acids; 56414 Da
Secondary accessions: B2RPH1 Q68D79

Explore the universe of human proteins at neXtProt for ANKRD34B: NX_A5PLL1

Explore proteomics data for ANKRD34B at MOPED

Post-translational modifications: 

  • Phosphorylated (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ANKRD34B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001004441.2  
    ENSEMBL proteins: 
     ENSP00000339802   ENSP00000426198  

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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 A5PLL1

    ProtoNet protein and cluster: A5PLL1

    UniProtKB/Swiss-Prot: AN34B_HUMAN, A5PLL1
    Similarity: Belongs to the ANKRD34 family
    Similarity: Contains 4 ANK repeats


    ANKRD34B 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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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    ANKRD34B for ontologies           About GeneDecksing


    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidANKRD34B 3' UTR sequence
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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 UniProtKB/Swiss-Prot
    AN34B_HUMAN, A5PLL1: Cytoplasm. Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--

    ANKRD34B 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 ANKRD34B
    Interactions:

        Search GeneGlobe Interaction Network for ANKRD34B

    (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 ANKRD34B (AN34B)



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ANKRD34B gene: 
    NM_001004441.2  

    Unigene Cluster for ANKRD34B:

    Ankyrin repeat domain 34B
    Hs.519404  [show with all ESTs]
    Unigene Representative Sequence: NM_001004441
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000338682(uc010jam.3 uc003kgw.3 uc010jan.3) ENST00000508916

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    hsa-miR-206 hsa-miR-3688-3p hsa-miR-513a-5p hsa-miR-1258 hsa-miR-613 hsa-miR-1
    SwitchGear 3'UTR luciferase reporter plasmidANKRD34B 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat ANKRD34B

    Additional mRNA sequence: 

    BC137441.1 BC137442.1 BC142957.1 CR749535.1 

    1 DOTS entry:

    DT.40305325 

    5 AceView cDNA sequences:

    AA810833 BV191027 CR749535 NM_001004441 BI601141 

    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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    ANKRD34B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTTGAACAA
    ANKRD34B Expression
    About this image


    ANKRD34B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 19 entries
             Globus Pallidus
             Substantia Nigra   
     
     Neural Ectoderm (Nervous System)
             Neural ectoderm cells
     
     Neural Tube (Nervous System)
             Floor plate-like cells
    ANKRD34B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ANKRD34B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.519404
        Custom PCR Arrays for ANKRD34B
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANKRD34B

    (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 chordates.

    Orthologs for ANKRD34B gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ankrd34b1 , 5 ankyrin repeat domain 34B1, 5 81.76(n)1
    82.48(a)1
      13 (47.68 cM)5
    2184401  NM_175455.41  NP_780664.21 
     924258965 
    chicken
    (Gallus gallus)
    Aves ANKRD34B6
    ankyrin repeat domain 34B
    63(a)
    1 ↔ 1
    Z(63910061-63911608)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    67(a)
    67(a)
    many → 1
    many → 1
    GL344451.1(12476-13978)
    AAWZ02039579(1856-3358)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ankrd34b1 ankyrin repeat domain 34B 66.27(n)
    65.82(a)
      100487669  XM_002934813.2  XP_002934859.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ankrd34bb1 ankyrin repeat domain 34Bb 56.91(n)
    56.11(a)
      565548  NM_001098183.1  NP_001091653.1 


    ENSEMBL Gene Tree for ANKRD34B (if available)
    TreeFam Gene Tree for ANKRD34B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ANKRD34B gene
    ANKRD34C2  ANKRD34A2  
    2 SIMAP similar genes for ANKRD34B using alignment to 2 protein entries:     AN34B_HUMAN (see all proteins):
    ANKRD34C    ANKRD34A

    ANKRD34B 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 ANKRD34B (see all 355)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs623668651,2
    C,F--79852145(+) CTAGAG/AATGGA 1 -- int11Minor allele frequency- A:0.50NA 2
    rs1890579831,2
    --79852226(+) AAGTGC/TTGGGA 1 -- int10--------
    rs1920540801,2
    --79852237(+) TTACAA/GGCGTG 1 -- int10--------
    rs2019517121,2
    C--79852283(+) GTAGAG/TACAGG 1 -- int10--------
    rs1156777551,2
    F--79852428(+) ATATCT/CTTTTC 1 -- int11Minor allele frequency- C:0.02WA 118
    rs64535211,2
    C,F,A,H--79852478(+) AGTTTT/GCTATT 1 -- int118Minor allele frequency- G:0.21NS EA WA NA CSA 2105
    rs1846060991,2
    --79852984(+) GTCTGA/GTTTAT 1 -- ut310--------
    rs777820831,2
    C,F--79853000(+) GTTGTT/GAAGCT 1 -- ut311Minor allele frequency- G:0.07WA 118
    rs605009641,2
    C,F--79853055(+) AGTTAT/AATAGA 1 -- ut311Minor allele frequency- A:0.50WA 2
    rs1417167531,2
    --79853064(+) GATGAC/TATAAT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ANKRD34B (79852574 - 79866307 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ANKRD34B:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv483112CNV Loss15286789

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ANKRD34B
    DNA2.0 Custom Variant and Variant Library Synthesis for ANKRD34B

    (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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    1 disease for ANKRD34B:    
    About MalaCards
    cerebritis


    ANKRD34B for disorders           About GeneDecksing

    Genetic Association Database (GAD): ANKRD34B

    Export disorders for ANKRD34B 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 ANKRD34B gene integrated from 10 sources:
    (articles sorted by number of sources associating them with ANKRD34B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel phosphoprotein is induced during bone marrow commitment to dendritic cells. (PubMed id 15358210)1, 9 Al-Shaibi N. and Ghosh S.K. (Biochem. Biophys. Res. Commun. 2004)
    2. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (BMC Med. Genet. 2007)
    3. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    4. The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)2 Schmutz J.... Rubin E.M. (Nature 2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (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: 340120 HGNC: 33736 AceView: DP58 Ensembl:ENSG00000189127 euGenes: HUgn340120
    ECgene: ANKRD34B H-InvDB: ANKRD34B

    (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 ANKRD34B 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 ANKRD34B gene:
    Search GeneIP for patents involving ANKRD34B

    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, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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 inGenious Targeting Laboratory, genOway)
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