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HMCN1 Gene

protein-coding   GIFtS: 53
GCID: GC01P185703

Hemicentin 1

(Previous name: age-related macular degeneration 1 (senile macular degeneration))
(Previous symbol: ARMD1)
  See HMCN1-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)
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Aliases
Hemicentin 11 2     Fibulin 61
ARMD11 2 5     fibulin-62
FIBL62 3 5     hemicentin-12
FIBL-62 3     Fibulin-63
FBLN62 5     EC 2.7.10.18
Age-Related Macular Degeneration 1 (Senile Macular Degeneration)1     EC 3.6.5.58

External Ids:    HGNC: 191941   Entrez Gene: 838722   Ensembl: ENSG000001433417   OMIM: 6085485   UniProtKB: Q96RW73   

Export aliases for HMCN1 gene to outside databases

Previous GC identifers: GC01P182436 GC01P183970 GC01P156939


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HMCN1 Gene:
This gene encodes a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans
forms long, fine tracks at specific extracellular sites that are involved in many processes such as stabilization
of the germline syncytium, anchorage of mechanosensory neurons to the epidermis, and organization of
hemidesmosomes in the epidermis. Mutations in this gene may be associated with age-related macular degeneration.
(provided by RefSeq, Jul 2008)

GeneCards Summary for HMCN1 Gene:
HMCN1 (hemicentin 1) is a protein-coding gene. Diseases associated with HMCN1 include age-related macular degeneration 1, and age related macular degeneration. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is LTBP3.

Gene Wiki entry for HMCN1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the HMCN1 gene promoter:
         TBP   LHX3b/Lhx3b   Nkx2-5   PPAR-alpha   AREB6   TFIID   FOXJ2 (long isoform)   LHX3a/Lhx3a   FOXO1a   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHMCN1 promoter sequence
   Search Chromatin IP Primers for HMCN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HMCN1


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

Entrez Gene cytogenetic band: 1q25.3-q31.1   Ensembl cytogenetic band:  1q25.3   HGNC cytogenetic band: 1q25.3-q31.1

HMCN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HMCN1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P185703:  view genomic region     (about GC identifiers)

Start:
185,703,683 bp from pter      End:
186,160,085 bp from pter
Size:
456,403 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: HMCN1_HUMAN, Q96RW7 (See protein sequence)
Recommended Name: Hemicentin-1 precursor  
Size: 5635 amino acids; 613390 Da
Sequence caution: Sequence=BAB71154.1; Type=Frameshift; Positions=657; Sequence=BAB71216.1; Type=Erroneous
initiation;
Secondary accessions: A6NGE3 Q5TYR7 Q96DN3 Q96DN8 Q96SC3
Alternative splicing: 3 isoforms:  Q96RW7-1   Q96RW7-2   Q96RW7-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HMCN1: NX_Q96RW7

Explore proteomics data for HMCN1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn349, Asn390, Asn528, Asn550, Asn573, Asn620, Asn693, Asn809, Asn970, Asn1158,
                                 Asn1272, Asn1369, Asn1552, Asn1929, Asn2112, Asn2155, Asn2395, Asn2689, Asn2887, Asn2973 (see all 34)
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for HMCN1 (Q96RW7)
     SLSWYKD  YSCVASN 


    See HMCN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_114141.2  
    ENSEMBL proteins: 
     ENSP00000271588   ENSP00000406205   ENSP00000356462  

    HMCN1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for HMCN1

     
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    HMCN1 Assay Products:

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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:
    ISET: Immunoglobulin superfamily / I-set domain containing
    FBLN: Fibulins

    Selected InterPro protein domains (see all 17):
     IPR003598 Ig_sub2
     IPR000884 Thrombospondin_1_rpt
     IPR000742 EG-like_dom
     IPR013098 Ig_I-set
     IPR009017 GFP

    Graphical View of Domain Structure for InterPro Entry Q96RW7

    ProtoNet protein and cluster: Q96RW7

    Selected Blocks protein domains (see all 6):
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB000875 Cecropin
    IPB001881 EGF-like calcium-binding
    IPB002126 Cadherin
    IPB003598 Immunoglobulin C-2 type


    UniProtKB/Swiss-Prot: HMCN1_HUMAN, Q96RW7
    Similarity: Contains 7 EGF-like domains
    Similarity: Contains 44 Ig-like C2-type (immunoglobulin-like) domains
    Similarity: Contains 1 nidogen G2 beta-barrel domain
    Similarity: Contains 6 TSP type-1 domains
    Similarity: Contains 1 VWFA domain


    Find genes that share domains with HMCN1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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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         Enzyme Numbers (IUBMB): EC 3.6.5.52 EC 2.7.10.12

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with HMCN1           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for HMCN1

    miRNA
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    miRTarBase miRNAs that target HMCN1:
    hsa-mir-335-5p (MIRT017939)

    Block miRNA regulation of human, mouse, rat HMCN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HMCN1 (see all 16):
    hsa-miR-29c hsa-miR-29a hsa-miR-767-5p hsa-let-7a-2* hsa-let-7g* hsa-miR-199b-5p hsa-miR-3121-3p hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidHMCN1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat HMCN1

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    Browse Sino Biological Human cDNA Clones
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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 UniProtKB/Swiss-Prot
    HMCN1_HUMAN, Q96RW7: Secreted, extracellular space, extracellular matrix, basement membrane (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    extracellular2
    cytosol1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005604basement membrane IEA--
    GO:0005938cell cortex IEA--
    GO:0016020membrane ----
    GO:0030054cell junction IEA--

    Find genes that share ontologies with HMCN1           About GenesLikeMe


    (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 HMCN1
    Interactions:

        GeneGlobe Interaction Network for HMCN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for HMCN1 (Q96RW73 ENSP000002715884) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    TSPAN5ENSP000003077014STRING: ENSP00000307701
    HOXB4ENSP000003289284STRING: ENSP00000328928
    HOXC4ENSP000003059734STRING: ENSP00000305973
    HOXD4ENSP000003025484STRING: ENSP00000302548
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007601visual perception IEA--
    GO:0050896response to stimulus IEA--

    Find genes that share ontologies with HMCN1           About GenesLikeMe



    (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 HMCN1



    (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 HMCN1 gene: 
    NM_031935.2  

    Unigene Cluster for HMCN1:

    Hemicentin 1
    Hs.58877  [show with all ESTs]
    Unigene Representative Sequence: NM_031935
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000271588(uc001grq.1) ENST00000485744(uc001grr.1) ENST00000493413
    ENST00000475585 ENST00000414277 ENST00000367492(uc001grs.1)
    miRNA
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    Block miRNA regulation of human, mouse, rat HMCN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HMCN1 (see all 16):
    hsa-miR-29c hsa-miR-29a hsa-miR-767-5p hsa-let-7a-2* hsa-let-7g* hsa-miR-199b-5p hsa-miR-3121-3p hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidHMCN1 3' UTR sequence
    Inhib. RNA
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat HMCN1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for HMCN1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HMCN1
      QuantiTect SYBR Green Assays in human, mouse, rat HMCN1
      QuantiFast Probe-based Assays in human, mouse, rat HMCN1

    Additional mRNA sequence: 

    AF156100.1 AJ306906.1 AK027344.1 AK056336.1 AK056557.1 AK096452.1 AL833232.1 BC139908.1 

    6 DOTS entries:

    DT.426313  DT.121423978  DT.95113331  DT.100681143  DT.91664556  DT.97825451 

    Selected AceView cDNA sequences (see all 49):

    D62730 BQ425569 AK096452 AJ306906 AK056336 BQ722715 AK027344 NM_031935 
    BU622124 AL833232 AK056557 BG149239 BE328248 CD511728 AI679767 CB999578 
    BF356611 BX503106 AF156100 CA420501 AI298034 AI681770 BQ006694 BE043096 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for HMCN1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            

    ExUns: 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33a · 33b ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49a · 49b
    SP1:                                                                                                                                                      
    SP2:                                                                                                                          -                           


    ECgene alternative splicing isoforms for HMCN1

    (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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    HMCN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGGTAATAG
    HMCN1 Expression
    About this image


    HMCN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 17) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Presumptive Podocytes Podocyte Layer
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Pre-Granulosa Cells Primordial Follicle
     
     Smooth Muscle (Muscoskeletal System)
             Juxtaglomerular Cells Afferent Arteriole
     
     Epithelial Cells
             Presumptive Podocytes Podocyte Layer
    HMCN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HMCN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.58877

    UniProtKB/Swiss-Prot: HMCN1_HUMAN, Q96RW7
    Tissue specificity: Isoform 1 and isoform 2 are expressed in skin fibroblasts and retinal pigment epithelium (RPE)
    cells

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HMCN1

    (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 animals.

    Orthologs for HMCN1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hmcn11 , 5 hemicentin 11, 5 85.9(n)1
    87.33(a)1
      1 (63.84 cM)5
    5453701  NM_001024720.31  NP_001019891.21 
     1505635275 
    chicken
    (Gallus gallus)
    Aves HMCN11 hemicentin 1 73.65(n)
    73.98(a)
      429823  XM_003643175.2  XP_003643223.1 
    lizard
    (Anolis carolinensis)
    Reptilia HMCN16
    hemicentin 1
    73(a)
    1 ↔ 1
    GL343203.1(2588388-2828895)
    zebrafish
    (Danio rerio)
    Actinopterygii hmcn11 hemicentin 1 65.05(n)
    66.8(a)
      559150  NM_001190304.2  NP_001177233.1 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0022681 AgaP_AGAP002268 41.52(n)
    31.1(a)
      5667756  XM_001687776.2  XP_001687828.2 
    worm
    (Caenorhabditis elegans)
    Secernentea him-41 him-4 45.22(n)
    31.7(a)
      181187  NM_001136453.1  NP_001129925.1 


    ENSEMBL Gene Tree for HMCN1 (if available)
    TreeFam Gene Tree for HMCN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HMCN1 gene
    LTBP32  SCUBE32  FBLN52  MEGF62  EFEMP12  LTBP42  SCUBE12  EFEMP22  
    LTBP22  LTBP12  HMCN22  FBLN22  FBLN12  SCUBE22  
    Selected SIMAP similar genes for HMCN1 using alignment to 2 protein entries:     HMCN1_HUMAN (see all proteins) (see all similar genes):
    DKFZp762L185    MUSK    LTBP1    FGFR3    EFEMP1    FBN1
    MATN4    LTBP2    PTPRS    LTBP4    CFP    GAS6
    LTBP3    NEGR1    PROS1    FBLN1    FBLN2    FBN2

    Find genes that share paralogs with HMCN1           About GenesLikeMe


    3 Pseudogenes.org Pseudogenes for HMCN1
    PGOHUM00000258304 PGOHUM00000258305 PGOHUM00000260536


    (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 HMCN1 (see all 9306)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0248184
    Macular degeneration, age-related, 1 (ARMD1)4--see VAR_0248182 Q R mis40--------
    rs413174711,2
    C,Funtested1192523484(+) GTCTAA/GTGCAG 2 N S mis12Minor allele frequency- G:0.01NA EU 5871
    rs1378539151,2
    Cuntested1192535799(+) CAACAA/GTCAAG 2 I V mis10--------
    rs1378539161,2
    Cuntested1192571693(+) GACCCA/GAGGGA 2 Q R mis10--------
    rs791788881,2
    C,Funtested1192604213(+) GAGCTA/GTAAAT 2 I V mis12Minor allele frequency- G:0.01WA NA 4628
    rs413174971,2
    C,Funtested1192652912(+) TTTCCG/ATAGGT 1 -- int12Minor allele frequency- A:0.02NA EU 1442
    rs66930691,2,,4
    C,F,Huntested1192660843(+) GAGGTG/ACCAGA 2 /T /A mis121Minor allele frequency- A:0.08NS EA NA WA EU 8255
    rs1214343821,2
    C,Fother1192694754(+) AGGACA/GACATT 2 Q R mis12Minor allele frequency- G:0.00NA EU 5869
    rs360213411,2
    C--156951975(+) TAAAA-/TTTTTT 1 -- int10--------
    rs1504958151,2
    C--157000565(+) GTGTC-/TGTGTGT 1 -- int10--------

    HapMap Linkage Disequilibrium report for HMCN1 (185703683 - 185953683 bp, first 250kb of HMCN1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for HMCN1 (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2347927CNV Deletion18987734
    esv2720317CNV Deletion23290073
    esv2720306CNV Deletion23290073
    esv1976790CNV Deletion18987734
    esv2468461CNV Deletion19546169
    esv2572731CNV Deletion19546169
    esv2563566CNV Deletion19546169
    esv2720339CNV Deletion23290073
    esv2186053CNV Deletion18987734
    esv2657798CNV Deletion23128226

    Human Gene Mutation Database (HGMD): HMCN1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HMCN1
    DNA2.0 Custom Variant and Variant Library Synthesis for HMCN1

    (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

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    OMIM gene information: 608548   
    OMIM disorders: 603075  
    UniProtKB/Swiss-Prot: HMCN1_HUMAN, Q96RW7
  • Macular degeneration, age-related, 1 (ARMD1) [MIM:603075]: A form of age-related macular degeneration, a
    multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most
    patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid
    that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch
    membrane. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 3 diseases for HMCN1:    
    About MalaCards
    age-related macular degeneration 1    age related macular degeneration    macular degeneration, age-related, reduced risk of

    1 disease from the University of Copenhagen DISEASES database for HMCN1:
    Age related macular degeneration

    Find genes that share disorders with HMCN1           About GenesLikeMe

    Genetic Association Database (GAD): HMCN1
    Human Genome Epidemiology (HuGE) Navigator: HMCN1 (10 documents)

    Export disorders for HMCN1 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

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    PubMed articles for HMCN1 gene, integrated from 10 sources (see all 33):
    (articles sorted by number of sources associating them with HMCN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Analysis of the ARMD1 locus: evidence that a mutation in hemicentin-1 is associated with age-related macular degeneration in a large family. (PubMed id 14570714)1, 2, 9 Schultz D.W.... Acott T.S. (Hum. Mol. Genet. 2003)
    2. Evaluation of the ARMD1 locus on 1q25-31 in patients with age-related maculopathy: genetic variation in laminin genes and in exon 104 of HEMICENTIN-1. (PubMed id 15370542)1, 4, 9 Hayashi M....Allikmets R. (Ophthalmic Genet. 2004)
    3. Examination of association with candidate genes for diabetic nephropathy in a Mexican American population. (PubMed id 20299368)1, 4 Kim S....Adler S.G. (Clin J Am Soc Nephrol 2010)
    4. Integrative predictive model of coronary artery calcification in atherosclerosis. (PubMed id 19948975)1, 4 McGeachie M....Ramoni M.F. (Circulation 2009)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. A novel diagnostic test detects a low frequency of the hemicentin Gln5345Arg variant among Northern Irish age related macular degeneration patients. (PubMed id 15467524)1, 4 McKay G.J....Simpson D.A. (Mol. Vis. 2004)
    8. Hemicentin, a conserved extracellular member of the immunoglobulin superfamily, organizes epithelial and other cell attachments into oriented line-shaped junctions. (PubMed id 11222143)1, 3 Vogel B.E. and Hedgecock E.M. (Development 2001)
    9. Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD). (PubMed id 17216616)1, 9 Fisher S.A....Weber B.H. (Hum. Mutat. 2007)
    10. Fibulin-6 expression and anoikis in human salivary gland epithelial cells: implications in Sjogren's syndrome. (PubMed id 19190085)1, 9 Sisto M....Lisi S. (Int. Immunol. 2009)

    (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)
    About This Section

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    Entrez Gene: 83872 HGNC: 19194 AceView: FIBL-6 Ensembl:ENSG00000143341 euGenes: HUgn83872
    ECgene: HMCN1 H-InvDB: HMCN1

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for HMCN1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HMCN1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for HMCN1 gene:
    Search GeneIP for patents involving HMCN1

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



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