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

ARMC9 Gene

protein-coding   GIFtS: 48
GCID: GC02P232064

Armadillo Repeat Containing 9

  See related diseases
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
Armadillo Repeat Containing 91 2     Armadillo/Beta-Catenin-Like Repeats2
Melanoma/Melanocyte-Specific Tumor Antigen KU-MEL-12 3     LisH Domain-Containing Protein ARMC92
NS212 3     Melanoma/Melanocyte Specific Protein KU-MEL-12
ARM2     KIAA18683
KU-MEL-12     

External Ids:    HGNC: 207301   Entrez Gene: 802102   Ensembl: ENSG000001359317   UniProtKB: Q7Z3E53   

Export aliases for ARMC9 gene to outside databases

Previous GC identifers: GC02P231889 GC02P231771 GC02P223905


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

GeneCards Summary for ARMC9 Gene: 
ARMC9 (armadillo repeat containing 9) is a protein-coding gene. Diseases associated with ARMC9 include mucopolysaccharidosis iii, and vogt-koyanagi-harada disease.

Gene Wiki entry for ARMC9 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 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_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ARMC9 gene promoter:
         AhR   TBP   STAT1   GATA-3   STAT5A   HNF-4alpha2   HNF-4alpha1   N-Myc   FOXJ2 (long isoform)   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidARMC9 promoter sequence
   Search SABiosciences Chromatin IP Primers for ARMC9

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ARMC9


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

Entrez Gene cytogenetic band: 2q37.1   Ensembl cytogenetic band:  2q37.1   HGNC cytogenetic band: 2q37.1

ARMC9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARMC9 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P232064:  view genomic region     (about GC identifiers)

Start:
232,063,260 bp from pter      End:
232,239,548 bp from pter
Size:
176,289 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: ARMC9_HUMAN, Q7Z3E5 (See protein sequence)
Recommended Name: LisH domain-containing protein ARMC9  
Size: 817 amino acids; 91762 Da
Sequence caution: Sequence=BAB14153.1; Type=Erroneous initiation;
Secondary accessions: Q53TI3 Q6P162 Q7L594 Q86WG2 Q96JF9 Q9H9R8
Alternative splicing: 2 isoforms:  Q7Z3E5-1   Q7Z3E5-2   

Explore the universe of human proteins at neXtProt for ARMC9: NX_Q7Z3E5

Explore proteomics data for ARMC9 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q7Z3E5

  • ARMC9 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ARMC9 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001258395.1  NP_079415.3  

    ENSEMBL proteins: 
     ENSP00000258417   ENSP00000387391   ENSP00000407146   ENSP00000392086   ENSP00000413932  
     ENSP00000411778   ENSP00000388527  

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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: 
    ARMC: Armadillo repeat containing

    3 InterPro protein domains:
     IPR011989 ARM-like
     IPR016024 ARM-type_fold
     IPR006594 LisH_dimerisation

    Graphical View of Domain Structure for InterPro Entry Q7Z3E5

    ProtoNet protein and cluster: Q7Z3E5

    1 Blocks protein domain: IPB006594 Lissencephaly type-1-like homology motif

    UniProtKB/Swiss-Prot: ARMC9_HUMAN, Q7Z3E5
    Similarity: Contains 1 LisH domain


    ARMC9 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): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding ----
         
    ARMC9 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:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ARMC9

    (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 ARMC9

    Search CenterWatch for drugs/clinical trials and news about ARMC9

    (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

    REFSEQ mRNAs for ARMC9 gene (2 alternative transcripts): 
    NM_001271466.1  NM_025139.4  

    Unigene Cluster for ARMC9:

    Armadillo repeat containing 9
    Hs.471610  [show with all ESTs]
    Unigene Representative Sequence: NM_001271466
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000349938(uc002vrq.4 uc002vrp.4) ENST00000482392 ENST00000440107
    ENST00000483477(uc002vrr.1) ENST00000469789 ENST00000444285 ENST00000436339
    ENST00000467698 ENST00000424740 ENST00000446447 ENST00000481520 ENST00000428662
    ENST00000486787 ENST00000488821
    miRNA
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    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ARMC9

    Additional mRNA sequence: 

    AB058771.1 AK022646.1 AK309395.1 AY219922.1 AY929062.1 BC004514.2 BC065271.1 BX537956.1 

    14 DOTS entries:

    DT.87015163  DT.95210377  DT.86857823  DT.40207557  DT.105733  DT.100638454  DT.97858546  DT.120993262 
    DT.209017  DT.40129282  DT.421997  DT.100782611  DT.92424788  DT.99993407 

    24/117 AceView cDNA sequences (see all 117):

    CA427360 BM685292 BQ423528 BM835538 BX111921 BM723527 CR608697 AB058771 
    AI274627 AI342531 BM988551 BM990717 BC017229 AA309729 AI741507 Z38862 
    CN479949 W90074 BU561510 BU732566 BF525768 BC065271 BI481493 BX103854 

    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

    ARMC9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCAACACGG
    ARMC9 Expression
    About this image


    See ARMC9 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ARMC9

    SOURCE GeneReport for Unigene cluster: Hs.471610

    UniProtKB/Swiss-Prot: ARMC9_HUMAN, Q7Z3E5
    Tissue specificity: Strongly expressed in most melanomas and melanocytes. Weakly expressed in the testis

        SABiosciences Custom PCR Arrays for ARMC9
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARMC9

    (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 ARMC9 gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Armc91 , 5 armadillo repeat containing 91, 5 87.32(n)1
    92.33(a)1
      1 (43.94 cM)5
    787951  NM_030184.21  NP_084460.11 
     861547805 
    chicken
    (Gallus gallus)
    Aves ARMC91 armadillo repeat containing 9 75.6(n)
    79.82(a)
      424929  XM_422737.3  XP_422737.3 
    lizard
    (Anolis carolinensis)
    Reptilia ARMC96
    armadillo repeat containing 9
    63(a)
    1 ↔ 1
    GL343433.1(643859-747908)
    zebrafish
    (Danio rerio)
    Actinopterygii AL918635.12   -- 75.2(n)    AL918635.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F59G1.46
    Protein F59G1.4
    18(a)
    1 ↔ 1
    II(5896170-5904588)


    ENSEMBL Gene Tree for ARMC9 (if available)
    TreeFam Gene Tree for ARMC9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/3550 SNPs in ARMC9 are shown (see all 3550)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0694114
    ----see VAR_0694112 D N mis40--------
    VAR_0567394
    ----see VAR_0567392 I V mis40--------
    rs795369531,2
    F--231431424(+) GTTCAC/TGGCAG 1 -- us2k13Minor allele frequency- T:0.04CSA WA 122
    rs1422866361,2
    C--231431541(+) TCTTGC/TCAAAG 1 -- us2k10--------
    rs621973221,2
    C,F--231431633(+) GGCAGA/GCTCAG 1 -- us2k17Minor allele frequency- G:0.42WA NA CSA EA 366
    rs1927387271,2
    --231431651(+) GGAAAA/TGGTCT 1 -- us2k10--------
    rs1167037411,2
    F--231431669(+) TCCTTG/ATCACA 1 -- us2k11Minor allele frequency- A:0.01WA 118
    rs1843192031,2
    --231431805(+) TGGAGA/GATTTT 1 -- us2k10--------
    rs1461010051,2
    C--231431893(+) AATTAC/TAACAT 1 -- us2k10--------
    rs1457238121,2
    --231431911(+) CAGTAA/TAATGC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ARMC9 (232063260 - 232239548 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for ARMC9:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2277694CNV Deletion18987734
    esv2721612CNV Deletion23290073
    esv2721611CNV Deletion23290073
    nsv518307CNV Loss19592680
    nsv834566CNV Loss17160897

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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
    6 diseases for ARMC9:    About MalaCards
    mucopolysaccharidosis iii    vogt-koyanagi-harada disease    mucopolysaccharidosis    melanoma
    lissencephaly    vitiligo

    1 disease from the University of Copenhagen DISEASES database for ARMC9:
    Mucopolysaccharidosis III

    ARMC9 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ARMC9
    Human Genome Epidemiology (HuGE) Navigator: ARMC9 (4 documents)

    Export disorders for ARMC9 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)
    About This Section

    PubMed articles for ARMC9 gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with ARMC9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11347906)1, 2, 3 Nagase T.... Ohara O. (2001)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    3. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    4. 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)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Tumor antigens isolated from a patient with vitiligo and T-cell- infiltrated melanoma. (PubMed id 11691810)1, 2 Kiniwa Y.... Kawakami Y. (2001)
    8. Genome-wide association analyses suggest NELL1 influen ces adverse metabolic response to HCTZ in African Americans. (PubMed id 23400010)1 Del-Aguila J.L....Boerwinkle E. (2013)
    9. Diagnostic exome sequencing in persons with severe intellectual disability. (PubMed id 23033978)2 de Ligt J.... Vissers L.E. (2012)
    10. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)

    (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: 80210 HGNC: 20730 AceView: FLJ12584 Ensembl:ENSG00000135931 euGenes: HUgn80210
    ECgene: ARMC9 H-InvDB: ARMC9

    (According to HUGE)
    About This Section
    HUGE: KIAA1868

    (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 ARMC9 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ARMC9 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ARMC9 gene:
    Search GeneIP for patents involving ARMC9

    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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