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

FOCAD Gene

protein-coding   GIFtS: 43
GCID: GC09P020659

focadhesin

(Previous name: KIAA1797 )
(Previous symbol: KIAA1797)
 Explore 2 diseases affiliated with
FOCAD via our new
 Human Malady Compendium 
Biological research products
for FOCAD
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Focadhesin1
KIAA17971 2 3
FLJ203751

External Ids:    HGNC: 233771   Entrez Gene: 549142   Ensembl: ENSG000001883527   OMIM: 6146065   UniProtKB: Q5VW363   

Export aliases for FOCAD 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

UniProtKB/Swiss-Prot: FOCAD_HUMAN, Q5VW36
Function: Potential tumor suppressor in gliomas (By similarity)

Gene Wiki entry for FOCAD (KIAA1797)


(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_000009.11  NC_018920.1  NT_008413.18  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for FOCAD
         Other transcription factors

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

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


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

Entrez Gene cytogenetic band: 9p21   Ensembl cytogenetic band:  9p21.3   HGNC cytogenetic band: 9p21

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

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P020659:  view genomic region     (about GC identifiers)

Start:
20,658,308 bp from pter      End:
20,995,954 bp from pter
Size:
337,647 bases      Orientation:
plus strand

(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: FOCAD_HUMAN, Q5VW36 (See protein sequence)
Recommended Name: Focadhesin  
Size: 1801 amino acids; 200072 Da
Subunit: Interacts with VCL
Subcellular location: Membrane; Multi-pass membrane protein (Potential). Cell junction, focal adhesion.
Note=Colocalizes with VCL in astrocytes
Sequence caution: Sequence=BAA91129.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAA91129.1; Type=Frameshift; Positions=261; Sequence=BAD18787.1; Type=Erroneous initiation; Note=Translation
N-terminally extended;
Secondary accessions: D3DRJ9 Q6ZME1 Q8IZG0 Q96JM8 Q96MS9 Q9BVF3 Q9NX87

Explore the universe of human proteins at neXtProt for FOCAD: NX_Q5VW36

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5VW36

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

    REFSEQ proteins: NP_060264.3  
    ENSEMBL proteins: 
     ENSP00000369599   ENSP00000344307  

    Human Recombinant Protein Products: 
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    OriGene Custom Protein Services for FOCAD 
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005925focal adhesion IDA--
    GO:0016021integral to membrane IEA--


    FOCAD for ontologies           About GeneDecksing



    FOCAD Antibody Products: 
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    Search ThermoFisher Antibodies for FOCAD

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    Browse ELISAs and CLIAs at Uscn


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

    FOCAD for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR022542 DUF3730
     IPR021392 DUF3028
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q5VW36

    ProtoNet protein and cluster: Q5VW36

    1 Blocks protein family: IPB000357 HEAT repeat


    (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

    Function Summary:

         UniProtKB/Swiss-Prot: FOCAD_HUMAN, Q5VW36
    Function: Potential tumor suppressor in gliomas (By similarity)

    miRNA
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    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FOCAD

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--


    FOCAD for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for FOCAD:
     Increased circadian period len 


    (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 FOCAD

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    4 Interacting proteins for FOCAD (Q5VW362, 3 ENSP000003443074) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBE2D3P610772, 3, ENSP000003497224MINT-8276097 I2D: score=2 STRING: ENSP00000349722
    VCLP182063I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    UBE2D2ENSP000003817174STRING: ENSP00000381717
    About this table

    (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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FOCAD
    Search CenterWatch for drugs/clinical trials and news about FOCAD 

    (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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FOCAD gene: 
    NM_017794.3  

    Unigene Cluster for FOCAD:

    Focadhesin
    Hs.136247  [show with all ESTs]
    Unigene Representative Sequence: NM_017794
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380249(uc003zog.1 uc003zoh.1) ENST00000338382

    miRNA
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    OriGene 3'-UTR Clone: FOCAD
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    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FOCAD
    OriGene shRNA RFP: FOCAD
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FOCAD
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FOCAD

    Additional cDNA sequence: 

    AB058700.1 AK000382.1 AK055116.1 AK056522.1 AK172818.1 AK225483.1 AL512738.1 AY139834.1 
    BC001246.1 

    13 DOTS entries:

    DT.87024835  DT.100748835  DT.121210151  DT.121210105  DT.121210153  DT.91823040  DT.121210162  DT.121210074 
    DT.121210147  DT.95122152  DT.100022496  DT.121210158  DT.95171587 

    24/150 AceView cDNA sequences (see all 150):

    AI383051 AW316588 Z40712 BE790592 AK055116 BF445512 AL512738 AI376928 
    AI081999 CA424291 BU738727 BM128931 AW473892 AA063556 CK819526 AW087242 
    BX956980 AY139834 CR607345 BQ057330 AL542355 BP337462 BU678536 CR608016 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for FOCAD    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21
    SP1:                                                                                                                                                            
    SP2:                    -                                                                                                                                       
    SP3:              -     -                                                                                                                                       
    SP4:              -     -                                                                                                                                       
    SP5:                                                                                                                                                            


    ECgene alternative splicing isoforms for FOCAD

    (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

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

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

    About this image
    See FOCAD Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FOCAD

    SOURCE GeneReport for Unigene cluster: Hs.136247

    UniProtKB/Swiss-Prot: FOCAD_HUMAN, Q5VW36
    Tissue specificity: Ubiquitous. High expression in brain followed by testis, muscle, pancreas, heart, ovary, small
    intestine, placenta, prostate, thymus, kidney, colon, liver, lung, spleen and leukocytes. Expression is reduced in
    most glioblastomas and all glioblastoma cell lines

        SABiosciences Custom PCR Arrays for FOCAD
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FOCAD

    (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 FOCAD gene from 6/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Focad5
    BC0570791
    cDNA sequence BC0570791, 5 84.67(n)1
    83.93(a)1
      4 (41.40 cM)5
    2303931  NM_001081184.11  NP_001074653.11 
     880946295 
    chicken
    (Gallus gallus)
    Aves FOCAD1 focadhesin 70.3(n)
    67.17(a)
      427233  NM_001195603.1  NP_001182532.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    69(a)
    61(a)
    many → 1
    many → 1
    2(61727483-61835810)
    2(61936627-61962556)
    African clawed frog
    (Xenopus laevis)
    Amphibia BQ384959.12   -- 79.36(n)    BQ384959.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.162712 Transcribed sequences 75.69(n)    AL914211.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG35206
    --
    19(a)
    1 ↔ 1
    2R(19284289-19289832)


    ENSEMBL Gene Tree for FOCAD (if available)
    TreeFam Gene Tree for FOCAD (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, 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

    10/6227 NCBI SNPs in FOCAD are shown (see all 6227    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1835253231,2
    --20656391(+) TCCCAA/TTATTA 1 -- us2k10--------
    rs1886054601,2
    --20656426(+) GTAGGC/TCACTC 1 -- us2k10--------
    rs1396421441,2
    --20656443(+) TGCTTC/TATGCA 1 -- us2k10--------
    rs1926472281,2
    --20656792(+) ATAGCA/GTTATG 1 -- us2k10--------
    rs1498500521,2
    --20656817(+) TGTCAC/TTATGA 1 -- us2k10--------
    rs1479758041,2
    --20656829(+) GTTAGC/GTGGTT 1 -- us2k10--------
    rs1402768961,2
    --20656841(+) TTCTGC/TTCGTT 1 -- us2k10--------
    rs78743841,2
    C,--20656884(+) ctttaC/Tatttt 1 -- us2k10--------
    rs78589781,2
    C--20656938(+) tttagC/Tgcttc 1 -- us2k1 tfbs30--------
    rs1853843531,2
    --20657032(+) CGCTTA/GTGAAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for FOCAD (20658308 - 20908308 bp, first 250kb of FOCAD)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for FOCAD: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FOCAD
    DNA2.0 Custom Variant and Variant Library Synthesis for FOCAD

    (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

    FOCAD for disorders           About GeneDecksing

    OMIM gene information: 614606    OMIM disorders: --

    2 diseases for FOCAD:    About MalaCards
    glioblastoma    prostatitis


    Export disorders for FOCAD 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 FOCAD gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with FOCAD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. KIAA1797/FOCAD encodes a novel focal adhesion protein with tumour suppressor function in gliomas. (PubMed id 22427331)1, 2, 3 Brockschmidt A.... Weber R.G. (2012)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. 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 Nagase T.... Ohara O. (2001)
    4. A cohesin-RAD21 interactome. (PubMed id 22145905)1 Panigrahi A.K....Pati D. (2012)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    7. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    8. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. Bivariate genetic association of KIAA1797 with heart rate in American Indians: the Strong Heart Family Study. (PubMed id 20601674)1 Melton P.E....Almasy L. (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: 54914 HGNC: 23377 AceView: KIAA1797 Ensembl:ENSG00000188352 euGenes: HUgn54914
    ECgene: FOCAD H-InvDB: FOCAD

    (According to HUGE)
    About This Section
    HUGE: KIAA1797

    (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 FOCAD 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 FOCAD gene:
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