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

ANKRD50 Gene

protein-coding   GIFtS: 43
GCID: GC04M125585

ankyrin repeat domain 50
 Explore 1 disease affiliated with
ANKRD50 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ANKRD50    

Aliases
for ANKRD50 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Ankyrin Repeat Domain 501 2
KIAA12231 3
Ankyrin Repeat Domain-Containing Protein 502

External Ids:    HGNC: 292231   Entrez Gene: 571822   Ensembl: ENSG000001514587   UniProtKB: Q9ULJ73   

Export aliases for ANKRD50 gene to outside databases

Previous GC identifers: GC04M125944 GC04M125804 GC04M121312


Summaries
for ANKRD50 gene

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

Genomic Views
for ANKRD50 gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_016354.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ANKRD50 gene promoter:
         HOXA9   HOXA9B   RFX1   Lmo2   RelA   Nkx2-5   Meis-1b   AREB6   Nkx6-1   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ANKRD50 promoter sequence
   Search SABiosciences Chromatin IP Primers for ANKRD50

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ANKRD50


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

Entrez Gene cytogenetic band: 4q28.1   Ensembl cytogenetic band:  4q28.1   HGNC cytogenetic band: 4q28.1

ANKRD50 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANKRD50 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M125585:  view genomic region     (about GC identifiers)

Start:
 125,585,203 bp from pter      End:
 125,633,887 bp from pter
Size:
 48,685 bases      Orientation:
 minus strand

Proteins
for ANKRD50 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: ANR50_HUMAN, Q9ULJ7 (See protein sequence)
Recommended Name: Ankyrin repeat domain-containing protein 50  
Size: 1429 amino acids; 155859 Da
Secondary accessions: A8K4V3 B4DHJ6 E9PDW0 Q6N064 Q6ZSE6
Alternative splicing: 2 isoforms:  Q9ULJ7-1   Q9ULJ7-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ANKRD50: NX_Q9ULJ7

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9ULJ7

    • ANKRD50 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001161354.1  NP_065070.1  

    ENSEMBL proteins: 
     ENSP00000425658   ENSP00000425355  

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    Protein Domains /
    Families
    for ANKRD50 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ANKRD50 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR020683 Ankyrin_rpt-contain_dom
     IPR002110 Ankyrin_rpt

    Graphical View of Domain Structure for InterPro Entry Q9ULJ7

    ProtoNet protein and cluster: Q9ULJ7

    1 Blocks protein family: IPB002110 Ankyrin repeat signature

    UniProtKB/Swiss-Prot: ANR50_HUMAN, Q9ULJ7
    Similarity: Contains 19 ANK repeats


    Function
    for ANKRD50 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: ANKRD50 3' UTR sequence
    Inhib. RNA
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    Pathways & Interactions
    for ANKRD50 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ANKRD50

    Drugs & Compounds
    for ANKRD50 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 ANKRD50
    Search CenterWatch for drugs/clinical trials and news about ANKRD50 / ANR50 

    Transcripts
    for ANKRD50 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
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    About This Section
    REFSEQ mRNAs for ANKRD50 gene (2 alternative transcripts): 
    NM_001167882.1  NM_020337.2  

    Unigene Cluster for ANKRD50:

    Ankyrin repeat domain 50
    Hs.480694  [show with all ESTs]
    Unigene Representative Sequence: NM_020337
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000504087(uc010inw.3 uc011cgo.2) ENST00000515641

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    hsa-miR-124* hsa-miR-323-3p hsa-miR-3607-3p hsa-miR-520e hsa-miR-520f hsa-miR-300 hsa-miR-106a hsa-miR-200a
    SwitchGear 3'UTR luciferase reporter plasmid: ANKRD50 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AB033049.2 AF075020.1 AK091516.1 AK127496.1 AK291068.1 AK295135.1 AL110131.1 BC024725.1 
    BX640674.1 

    2 DOTS entries:

    DT.111886  DT.431703 

    24/132 AceView cDNA sequences (see all 132):

    BX107850 AA723816 AW296634 BX454941 AL041369 AL046221 BQ016788 AL041370 
    AI399742 CR591248 BC024725 AW513170 AB033049 BG547052 AA994997 AI471666 
    BX495698 AA330469 AA331465 AW292608 BQ012062 AK127496 AI139985 AI654214 

    GeneLoc Exon Structure


    Expression
    for ANKRD50 gene

    (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

    ANKRD50 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTCATTCATT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ANKRD50 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ANKRD50 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ANKRD50

    SOURCE GeneReport for Unigene cluster: Hs.480694
        SABiosciences Custom PCR Arrays for ANKRD50
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    In Situ
    Assay Products:     
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    Orthologs
    for ANKRD50 gene

    (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 last universal common ancestor (LUCA).

    Orthologs for ANKRD50 gene from 8/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ANKRD501 ankyrin repeat domain 50 82.38(n)
    93.7(a)    		   422663  XM_420618.3  XP_420618.3 
    lizard
    (Anolis carolinensis)    		 Reptilia ANKRD506
    --
    		 --
    		 92(a)
    24(a)
    		 1 ↔ 1
    possible ortholog
    		 5(137834842-137883210)
    4(101979115-101980806)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.130622 Xenopus laevis transcribed sequence with weak similarity more 81.5(n)    BJ619253.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii Dr.220362 Transcribed sequence with moderate similarity to protein more 75.15(n)    57055027 
    fruit fly
    (Drosophila melanogaster)    		 Insecta nompC6
    CG100116
    (see all 3)    		 --
    		 8(a)
    25(a)
    (see all 3)    		 possible ortholog
    1 ↔ 1
    (see all 3)    		 2L(5342321-5365760)
    3R(24433653-24460785)
    worm
    (Caenorhabditis elegans)    		 Secernentea tag-1446
    		 Temporarily Assigned Gene name family member (tag-...
    		 5(a)
    		 possible ortholog
    		 IV(11038634-11047401)
    rice
    (Oryza sativa)    		 Liliopsida --
    		 ankyrin repeat domain-containing protein 50, putat...
    		 19(a)
    		 possible ortholog
    		 3(25568429-25570099)
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria yahD6
    		 ankyrin repeat protein
    		 23(a)
    		 possible ortholog
    		 Chromosome(334504-335109)


    ENSEMBL Gene Tree for ANKRD50 (if available)
    TreeFam Gene Tree for ANKRD50 (if available) 

    Paralogs
    for ANKRD50 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ANKRD50 gene
    TANC22  TNKS22  ANKRD172  ANK32  ANKHD12  ANK12  ANKRD522  ANKHD1-EIF4EBP32  
    TNKS2  TANC12  INVS2  ANKRD282  ANK22  ANKRD442  
    11 SIMAP similar genes for ANKRD50 using alignment to 2 protein entries:     ANR50_HUMAN (see all proteins):
    PPP1R12A    ANKDD1A    NRARP    KANK4    PSMD10    ANKRD29
    CDKN2C    DKFZp434B2328    IkBa    CDKN2D    LOC91526

    ANKRD50 for paralogs           About GeneDecksing



    Genomic Variants
    for ANKRD50 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ANKRD50
    DNA2.0 Custom Variant and Variant Library Synthesis for ANKRD50

    Disorders / Diseases
    for ANKRD50 gene

    (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.)
    About This Section
    ANKRD50 for disorders           About GeneDecksing

    1 disease for ANKRD50:    About MalaCards
    neuronitis

    Human Genome Epidemiology (HuGE) Navigator: ANKRD50 (1 document)

    Export disorders for ANKRD50 gene to outside databases

    Publications
    for ANKRD50 gene

    (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 ANKRD50 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with ANKRD50)    		    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. (2004)
    2. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10574462)1, 2 Nagase T.... Ohara O. (1999)
    3. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    4. Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis. (PubMed id 18220336)2 Cantin G.T....Yates J.R. III (2008)
    5. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    6. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    7. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    8. 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)

    External Searches for ANKRD50 gene

    (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)

    Genome Databases showing ANKRD50 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57182 HGNC: 29223 AceView: KIAA1223 Ensembl:ENSG00000151458 euGenes: HUgn57182
    ECgene: ANKRD50 H-InvDB: ANKRD50

    Other Databases showing ANKRD50 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1223

    Specialized Databases showing ANKRD50 gene

    (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 ANKRD50 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for ANKRD50 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ANKRD50 gene:
    Search GeneIP for patents involving ANKRD50

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



    Products
    for ANKRD50 gene

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    About This Section

     
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