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

SOWAHC Gene

protein-coding   GIFtS: 38
GCID: GC02P110372

Sosondowah Ankyrin Repeat Domain Family Member C

(Previous name: ankyrin repeat domain 57)
(Previous symbols: C2orf26, ANKRD57)
  Search for SOWAHC
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

Aliases
Sosondowah Ankyrin Repeat Domain Family Member C1 2     Ankyrin Repeat Domain-Containing Protein 572 3
ANKRD571 2 3     Protein Sosondowah Homolog C2 3
C2orf261 2 3     Ankyrin Repeat Domain-Containing Protein SOWAHC2
Ankyrin Repeat Domain 571 2     

External Ids:    HGNC: 261491   Entrez Gene: 651242   Ensembl: ENSG000001981427   UniProtKB: Q53LP33   

Export aliases for SOWAHC gene to outside databases


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

GeneCards Summary for SOWAHC Gene: 
SOWAHC (sosondowah ankyrin repeat domain family member C) is a protein-coding gene. An important paralog of this gene is SOWAHB.


(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 SOWAHC
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSOWAHC promoter sequence
   Search SABiosciences Chromatin IP Primers for SOWAHC

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


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

Entrez Gene cytogenetic band: 2q13   Ensembl cytogenetic band:  2q13   HGNC cytogenetic band: 2q13

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P110372:  view genomic region     (about GC identifiers)

Start:
110,371,911 bp from pter      End:
110,376,564 bp from pter
Size:
4,654 bases      Orientation:
plus strand

(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: SWAHC_HUMAN, Q53LP3 (See protein sequence)
Recommended Name: Ankyrin repeat domain-containing protein SOWAHC  
Size: 525 amino acids; 55672 Da
Sequence caution: Sequence=BAB15161.1; Type=Frameshift; Positions=311;
Secondary accessions: Q8NE15 Q9H6U1

Explore the universe of human proteins at neXtProt for SOWAHC: NX_Q53LP3

Explore proteomics data for SOWAHC at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q53LP3

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

    SOWAHC Protein Expression
    REFSEQ proteins: NP_075392.2  
    ENSEMBL proteins: 
     ENSP00000365830  

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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 Q53LP3

    ProtoNet protein and cluster: Q53LP3

    UniProtKB/Swiss-Prot: SWAHC_HUMAN, Q53LP3
    Similarity: Belongs to the SOWAH family
    Similarity: Contains 2 ANK repeats


    SOWAHC 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 ----
         
    SOWAHC for ontologies           About GeneDecksing


    Animal Models:
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    Inhib. RNA
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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 SOWAHC

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for SOWAHC (Q53LP33 ENSP000003658304) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PCBD1P614573, ENSP000002992994I2D: score=1 STRING: ENSP00000299299
    TCF3P159233I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SOWAHC (SWAHC)

    Search CenterWatch for drugs/clinical trials and news about SOWAHC / SWAHC

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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

    REFSEQ mRNAs for SOWAHC gene: 
    NM_023016.3  

    Unigene Cluster for SOWAHC:

    Sosondowah ankyrin repeat domain family member C
    Hs.355455  [show with all ESTs]
    Unigene Representative Sequence: NM_023016
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000356454(uc002tfb.3)
    miRNA
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    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SOWAHC
    Clone
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    OriGene clones in human, mouse for SOWAHC (see all 5)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript Custom all cDNA clones Services for SOWAHC
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SOWAHC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SOWAHC
    Sirion Biotech Customized lentivirus for stable overexpression of SOWAHC 
                         Customized lentivirus expression plasmids for stable overexpression of SOWAHC 
    Primer
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    OriGene qPCR primer pairs and template standards for SOWAHC
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SOWAHC
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SOWAHC

    Additional mRNA sequence: 

    AK023346.1 AK025523.1 BC036652.1 BC066772.1 

    3 DOTS entries:

    DT.87012556  DT.100678603  DT.95138527 

    24/99 AceView cDNA sequences (see all 99):

    AW161459 AA936548 AI478812 R84563 AA885692 AI675284 BQ437156 CN479621 
    BU153173 BQ025322 CR622761 AI589168 AW161879 BX645211 BU508918 AW662149 
    BM994405 AV716967 AI003797 BX483394 AK025523 BE206520 AA299422 AA987196 

    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

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


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

    SOURCE GeneReport for Unigene cluster: Hs.355455
        SABiosciences Custom PCR Arrays for SOWAHC
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOWAHC

    (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 animals.

    Orthologs for SOWAHC gene from 4/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sowahc1 , 5 sosondowah ankyrin repeat domain family member C1, 5 77(n)1
    74.35(a)1
      10 (29.50 cM)5
    2683011  NM_172939.31  NP_766527.31 
     592219535 
    chicken
    (Gallus gallus)
    Aves ANKRD571 ankyrin repeat domain 57 72.24(n)
    73.31(a)
      428016  XM_003640534.1  XP_003640582.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sowahcb1 sosondowah ankyrin repeat domain family Cb 53.92(n)
    48.69(a)
      563244  NM_001080006.1  NP_001073475.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sowah6
    sosondowah
    9(a)
    1 → many
    3L(12530613-12565642)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SOWAHC gene
    SOWAHB2  SOWAHA2  SOWAHD2  

    SOWAHC for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for SOWAHC
    PGOHUM00000238999 PGOHUM00000240780 PGOHUM00000262586 PGOHUM00000233738


    (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

    10/49 SNPs in SOWAHC are shown (see all 49)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs49538471,2
    C,A--110373805(+) CTGGGA/GAAAGT 1 -- ut315Minor allele frequency- G:0.21WA NA EA 362
    rs49538481,2
    C,F,A--110373849(+) CCTGTA/GCCTCT 1 -- ut31 ese35Minor allele frequency- G:0.20WA NA EA 362
    rs49538491,2
    C,F--110373919(+) ATTGGG/AGGAAC 1 -- ut315Minor allele frequency- A:0.21WA NA EA 362
    rs49538501,2
    C,F,A--110373938(+) TGAATG/TAATGA 1 -- ut319Minor allele frequency- T:0.41WA NA CSA EA 369
    rs1834002091,2
    --110374041(+) TTCAAC/GAGTAA 1 -- ut310--------
    rs1160404861,2
    C,F--110374214(+) GGAATC/ATTCTT 1 -- ut311Minor allele frequency- A:0.06WA 118
    rs67262521,2
    C,F,A,H--110374215(+) GAATCT/CTCTTG 1 -- ut3113Minor allele frequency- C:0.44EA NS NA WA CSA 1027
    rs1440568001,2
    --110374356(+) ATTAAA/GGTACA 1 -- ut310--------
    rs1482135511,2
    --110374357(+) TTAAGG/TTACAC 1 -- ut310--------
    rs1412063491,2
    --110374485(+) CTATTC/TTAAAA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for SOWAHC (110371911 - 110376564 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SOWAHC: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SOWAHC
    DNA2.0 Custom Variant and Variant Library Synthesis for SOWAHC

    (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 SOWAHC gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with SOWAHC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. An ancient genomic regulatory block conserved across bilaterians and its dismantling in tetrapods by retrogene replacement. (PubMed id 22234889)1, 3 Maeso I....Garcia-FernA ndez J. (2012)
    2. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
    3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
    7. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    10. An atlas of combinatorial transcriptional regulation in mouse and man. (PubMed id 20211142)1 Ravasi T....Hayashizaki Y. (2010)

    (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: 65124 HGNC: 26149 AceView: C2orf26 Ensembl:ENSG00000198142 euGenes: HUgn65124
    ECgene: SOWAHC H-InvDB: SOWAHC

    (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 SOWAHC 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 SOWAHC gene:
    Search GeneIP for patents involving SOWAHC

    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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