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

ANKRD30BL Gene

protein-coding   GIFtS: 31
GCID: GC02M132906

Ankyrin Repeat Domain 30B-Like

(Previous names: non-protein coding RNA 164, ankyrin repeat domain 30B pseudogene...)
(Previous symbols: NCRNA00164, ANKRD30BP3)
  Search for ANKRD30BL
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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Ankyrin Repeat Domain 30B-Like1 2
NCRNA001641 2 3
ANKRD30BP31 2
Ankyrin Repeat Domain 30B Pseudogene 31
Non-Protein Coding RNA 1641

External Ids:    HGNC: 351671   Entrez Gene: 5542262   Ensembl: ENSG000001630467   UniProtKB: A7E2S93   
ORGUL members:         
NONCODE14:n383749 n383748      

Export aliases for ANKRD30BL gene to outside databases

Previous GC identifer: GC02M124898


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

GeneCards Summary for ANKRD30BL Gene: 
ANKRD30BL (ankyrin repeat domain 30B-like) is a protein-coding gene, and is affiliated with the lncRNA class. An important paralog of this gene is POTEF.


(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_000002.11  NC_018913.2  NT_022135.16  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for ANKRD30BL
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for ANKRD30BL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ANKRD30BL


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

Entrez Gene cytogenetic band: 2q21.2   Ensembl cytogenetic band:  2q21.2   HGNC cytogenetic band: 2q21.2

ANKRD30BL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANKRD30BL gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M132906:  view genomic region     (about GC identifiers)

Start:
132,905,164 bp from pter      End:
133,015,542 bp from pter
Size:
110,379 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for ANKRD30BL

(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: A30BL_HUMAN, A7E2S9 (See protein sequence)
Recommended Name: Putative ankyrin repeat domain-containing protein 30B-like  
Size: 258 amino acids; 28549 Da
Secondary accessions: B8ZZL7
Alternative splicing: 2 isoforms:  A7E2S9-1   A7E2S9-2   (No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for ANKRD30BL: NX_A7E2S9

Explore proteomics data for ANKRD30BL at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_A7E2S9

  • ANKRD30BL Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ANKRD30BL Protein Expression

    ENSEMBL proteins: 
     ENSP00000386398   ENSP00000295181  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ANKRD: Ankyrin repeat domain containing

    2 InterPro protein domains:
     IPR020683 Ankyrin_rpt-contain_dom
     IPR002110 Ankyrin_rpt

    Graphical View of Domain Structure for InterPro Entry A7E2S9

    ProtoNet protein and cluster: A7E2S9

    UniProtKB/Swiss-Prot: A30BL_HUMAN, A7E2S9
    Similarity: Contains 4 ANK repeats


    ANKRD30BL 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

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    ANKRD30BL for ontologies           About GeneDecksing


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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 ANKRD30BL

    (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
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    Browse Tocris compounds for ANKRD30BL (A30BL)

    Search CenterWatch for drugs/clinical trials and news about ANKRD30BL / A30BL

    (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,
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    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

    Unigene Cluster for ANKRD30BL:

    Ankyrin repeat domain 30B-like
    Hs.380689  [show with all ESTs]
    Unigene Representative Sequence: NR_027019
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000465868 ENST00000470729(uc002ttj.3) ENST00000481691 ENST00000409867
    ENST00000295181(uc002tti.3) ENST00000471048
    miRNA
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    Additional mRNA sequence: 

    BC029821.1 BC045801.1 BC057764.1 NR_027019.1 NR_027020.2 

    6 DOTS entries:

    DT.101956601  DT.120959299  DT.95296205  DT.87003491  DT.120785592  DT.121142433 

    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™, 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

    ANKRD30BL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ANKRD30BL Expression
    About this image


    See ANKRD30BL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ANKRD30BL

    SOURCE GeneReport for Unigene cluster: Hs.380689
        SABiosciences Custom PCR Arrays for ANKRD30BL
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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for ANKRD30BL gene from 3/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves --
    --
    7(a)
    possible ortholog
    1(24064036-24111623)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    30(a)
    possible ortholog
    GL344195.1(38786-58936)
    zebrafish
    (Danio rerio)
    Actinopterygii ANKRD30B6
    ankyrin repeat domain 30B
    4(a)
    1 → many
    25(3581527-3655709)
            Species with no ortholog for ANKRD30BL

    ENSEMBL Gene Tree for ANKRD30BL (if available)
    TreeFam Gene Tree for ANKRD30BL (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ANKRD30BL gene
    POTEF2  POTEI2  ANKRD30A2  POTEB22  ANKRD362  ANKRD72  POTEB2  ANKRD20A32  
    POTEH2  ANKRD30B2  LOC6442492  ENSG000002663022  ANKRD36C2  POTEJ2  POTEC2  ANKRD20A22  
    ANKRD262  POTEG2  ANKRD622  ANKRD18A2  POTEM2  ANKRD20A12  CCDC144A2  POTEE2  
    POTED2  ANKRD20A42  ANKRD18B2  LOC1002889662  
    18/29 SIMAP similar genes for ANKRD30BL using alignment to 1 protein entry:     A30BL_HUMAN(see all similar genes):
    ANKRD20A1    ANKRD20A2    ANKRD20A4    ANKRD20A8P    ANKRD20A5P    ANKRD7
    ANKRD18B    ANKRD19P    ANKRD18A    ANKRD36B    ANKRD62    MGC26718
    POTEA    ANKRD36    POTEC    POTED    POTEE    POTEG

    ANKRD30BL for paralogs           About GeneDecksing


    5/6 Pseudogenes.org Pseudogenes for ANKRD30BL (see all 6)
    PGOHUM00000238379 PGOHUM00000258512 PGOHUM00000238764 PGOHUM00000250120 PGOHUM00000256748


    (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

    10/6709 SNPs in ANKRD30BL are shown (see all 6709)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1438355421,2
    --132904671(+) GAGGAC/TACAGT 2 -- int10--------
    rs75841501,2
    C,F,A,H--132904677(+) acagtA/Gaattc 2 -- int19Minor allele frequency- G:0.47NS EA WA NA 778
    rs1815325941,2
    --132904687(+) CCTCTC/TCAAAG 2 -- int10--------
    rs101904501,2
    C--132904819(+) tcaacC/Ttccag 2 -- int10--------
    rs2022123851,2
    C--132904860(+) CACCCC/TTGCGA 2 -- int10--------
    rs2004978551,2
    C--132904909(+) CACGGC/TATGTG 2 -- int10--------
    rs288881621,2
    C--132904930(+) CCCCAA/GAGTTG 2 -- int10--------
    rs2012342911,2
    C--132904933(+) CAAAGA/TTGCTG 2 -- int10--------
    rs287492781,2
    --132904992(+) AGTTGA/TGTCTT 2 -- int10--------
    rs109282581,2
    A--132905041(+) GGTGCA/GCCTCC 2 -- int10--------

    HapMap Linkage Disequilibrium report for ANKRD30BL (132905164 - 133015542 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/39 variations for ANKRD30BL (see all 39):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2720801CNV Deletion23290073
    esv2657667CNV Deletion23128226
    esv2720802CNV Deletion23290073
    esv2720800CNV Deletion23290073
    esv2720805CNV Deletion23290073
    esv2720804CNV Deletion23290073
    esv2720798CNV Deletion23290073
    esv2720803CNV Deletion23290073
    dgv660e201CNV Deletion23290073
    esv2720799CNV Deletion23290073

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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
      --

    (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 ANKRD30BL gene integrated from 9 sources:
    (articles sorted by number of sources associating them with ANKRD30BL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of a cancer/testis (CT) antigen gene family capable of eliciting humoral response in cancer patients. (PubMed id 17114284)1, 3 Parmigiani R.B....Camargo A.A. (2006)
    2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    3. A transcript finishing initiative for closing gaps in the human transcriptome. (PubMed id 15197164)1 Sogayar M.C....Zanette D.L. (2004)
    4. 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. (2004)
    5. 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. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 554226 HGNC: 35167 Ensembl:ENSG00000163046 euGenes: HUgn554226 ECgene: ANKRD30BL
    H-InvDB: ANKRD30BL

    (According to HUGE)
    About This Section
      --

    (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 ANKRD30BL 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 ANKRD30BL gene:
    Search GeneIP for patents involving ANKRD30BL

    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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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