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ANKRD33B Gene

protein-coding   GIFtS: 35
GCID: GC05P010564

Ankyrin Repeat Domain 33B

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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 33B1 2
Ankyrin Repeat Domain-Containing Protein 33B2
Ankyrin Repeat Domain-Containing Protein LOC6517462

External Ids:    HGNC: 352401   Entrez Gene: 6517462   Ensembl: ENSG000001642367   UniProtKB: A6NCL73   

Export aliases for ANKRD33B gene to outside databases

Previous GC identifer: GC05P010616


(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 ANKRD33B Gene:
ANKRD33B (ankyrin repeat domain 33B) is a protein-coding gene. An important paralog of this gene is ANKRD33.


(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  NT_006576.17  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ANKRD33B gene promoter:
         Egr-3   p53   CUTL1   AP-2gamma   Evi-1   Egr-4   E47   AP-2beta   AP-2alpha   AP-2alphaA   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for ANKRD33B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ANKRD33B


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

Entrez Gene cytogenetic band: 5p15.2   Ensembl cytogenetic band:  5p15.2   HGNC cytogenetic band: 5p15.2

ANKRD33B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANKRD33B gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P010564:  view genomic region     (about GC identifiers)

Start:
10,564,435 bp from pter      End:
10,657,928 bp from pter
Size:
93,494 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: AN33B_HUMAN, A6NCL7 (See protein sequence)
Recommended Name: Ankyrin repeat domain-containing protein 33B  
Size: 494 amino acids; 53975 Da

Explore the universe of human proteins at neXtProt for ANKRD33B: NX_A6NCL7

Explore proteomics data for ANKRD33B at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ANKRD33B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001157912.1  
    ENSEMBL proteins: 
     ENSP00000422195   ENSP00000296657  

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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 A6NCL7

    ProtoNet protein and cluster: A6NCL7

    UniProtKB/Swiss-Prot: AN33B_HUMAN, A6NCL7
    Similarity: Contains 5 ANK repeats


    Find genes that share domains with ANKRD33B           About GenesLikeMe


    (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, 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 ANKRD33B           About GenesLikeMe


    Animal Models:
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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
    cytosol2
    nucleus2
    mitochondrion1

    (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 ANKRD33B
    Interactions:

        Search GeneGlobe Interaction Network for ANKRD33B

    (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 ANKRD33B (AN33B)



    (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 ANKRD33B gene: 
    NM_001164440.1  

    Unigene Cluster for ANKRD33B:

    Ankyrin repeat domain 33B
    Hs.26039  [show with all ESTs]
    Unigene Representative Sequence: NM_001164440
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000504806 ENST00000296657(uc021xwp.1)
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    Additional mRNA sequence: 

    AF056441.1 AK023999.1 BC018597.1 

    4 DOTS entries:

    DT.453028  DT.70104201  DT.120869541  DT.95358328 

    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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    ANKRD33B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ANKRD33B Expression
    About this image


    ANKRD33B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Germ Cells (Reproductive System)
             Primordial germ cell-like cells
     
     Neurons
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Gonad
             Primordial germ cell-like cells
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Eye (Sensory Organs)
             nGnG Amacrine Cells Inner Nuclear Layer
    ANKRD33B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ANKRD33B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.26039
        Custom PCR Arrays for ANKRD33B
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    In Situ
    Assay Products:
     

     
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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 chordates.

    Orthologs for ANKRD33B gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ankrd33b1 , 5 ankyrin repeat domain 33B1, 5 78.28(n)1
    77.11(a)1
      15 (12.76 cM)5
    674341  NM_001164441.11  NP_001157913.11 
     312914805 
    chicken
    (Gallus gallus)
    Aves ANKRD33B1 ankyrin repeat domain 33B 63.69(n)
    60.35(a)
      420924  XM_004935114.1  XP_004935171.1 
    lizard
    (Anolis carolinensis)
    Reptilia ANKRD33B6
    ankyrin repeat domain 33B
    57(a)
    1 ↔ 1
    4(66469352-66560511)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004945041 ankyrin repeat domain-containing protein 33B-like 54.16(n)
    55.21(a)
      100494504  XM_002938319.2  XP_002938365.2 
    zebrafish
    (Danio rerio)
    Actinopterygii ankrd33ba1 ankyrin repeat domain 33ba 58.29(n)
    51.44(a)
      568270  XM_691590.5  XP_696682.1 


    ENSEMBL Gene Tree for ANKRD33B (if available)
    TreeFam Gene Tree for ANKRD33B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ANKRD33B gene
    ANKRD332  
    1 SIMAP similar gene for ANKRD33B using alignment to 2 protein entries:     AN33B_HUMAN (see all proteins):
    ANKRD33

    Find genes that share paralogs with ANKRD33B           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for ANKRD33B (see all 14)
    PGOHUM00000242230 PGOHUM00000250360 PGOHUM00000250362 PGOHUM00000250367 PGOHUM00000250385


    (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 ANKRD33B (see all 2256)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1857745691,2
    --10562519(+) CTCTCA/GGGGCC 1 -- us2k10--------
    rs760120191,2
    --10562550(+) TTGGTA/GACCCG 1 -- us2k10--------
    rs758319711,2
    C--10562621(+) CAAACC/TCAACT 1 -- us2k10--------
    rs1482950551,2
    --10562646(+) CACTTA/GAAATT 1 -- us2k10--------
    rs778341051,2
    C,F--10562784(+) GTTGCA/TGAAAG 1 -- us2k12Minor allele frequency- T:0.14CSA WA 120
    rs1898973981,2
    --10562915(+) CTGCAA/GATGCC 1 -- us2k10--------
    rs802115601,2
    F--10563020(+) CGAGGG/ACTCGA 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs8145811,2
    C,F,H--10563045(+) TAAACC/GTGTCC 1 -- us2k123Minor allele frequency- G:0.05NS EA NA WA CSA 1757
    rs669822031,2
    C,F--10563296(+) CCTGCG/TACGGG 1 -- us2k14Minor allele frequency- T:0.14NA WA 242
    rs1821161971,2
    --10563356(+) CTCACG/TACGCC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ANKRD33B (10564435 - 10657928 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ANKRD33B (see all 20):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2302807CNV Deletion18987734
    esv2729744CNV Deletion23290073
    esv2429278CNV Deletion19546169
    esv2729745CNV Deletion23290073
    dgv978e201CNV Deletion23290073
    esv2570309CNV Deletion19546169
    esv5335CNV Deletion18987735
    esv268690CNV Insertion20981092
    nsv507230CNV Insertion20534489
    nsv513221CNV Loss21212237

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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 ANKRD33B           About GenesLikeMe

    Genetic Association Database (GAD): ANKRD33B

    Export disorders for ANKRD33B 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 ANKRD33B gene integrated from 10 sources:
    (articles sorted by number of sources associating them with ANKRD33B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)1, 2 Schmutz J.... Rubin E.M. (Nature 2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 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: 651746 HGNC: 35240 Ensembl:ENSG00000164236 euGenes: HUgn651746 ECgene: ANKRD33B
    H-InvDB: ANKRD33B

    (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 ANKRD33B 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 ANKRD33B gene:
    Search GeneIP for patents involving ANKRD33B

    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, eBioscience, 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 inGenious Targeting Laboratory, genOway)
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