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

C3orf80 Gene

protein-coding   GIFtS: 31
GCID: GC03P159945

chromosome 3 open reading frame 80
  Search for C3orf80
in
MalaCards
our new
 Human Malady Compendium 
Biological research products
for C3orf80    

Aliases
for C3orf80 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Chromosome 3 Open Reading Frame 801 2
Uncharacterized Membrane Protein C3orf802

External Ids:    HGNC: 400481   Entrez Gene: 4010972   Ensembl: ENSG000001800447   UniProtKB: F5H4A93   

Export aliases for C3orf80 gene to outside databases


Summaries
for C3orf80 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 C3orf80 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_000003.11  NC_018914.1  NT_005612.16  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for C3orf80
         Other transcription factors

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   Search SABiosciences Chromatin IP Primers for C3orf80

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C3orf80


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

Entrez Gene cytogenetic band: 3q25.33   Ensembl cytogenetic band:  3q25.33   HGNC cytogenetic band: 3q25.33

C3orf80 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C3orf80 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P159945:  view genomic region     (about GC identifiers)

Start:
 159,943,423 bp from pter      End:
 159,946,000 bp from pter
Size:
 2,578 bases      Orientation:
 plus strand

Proteins
for C3orf80 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: CC080_HUMAN, F5H4A9 (See protein sequence)
Recommended Name: Uncharacterized membrane protein C3orf80 precursor  
Size: 247 amino acids; 25682 Da
Subcellular location: Membrane; Single-pass membrane protein (Potential)
Secondary accessions: Q8N5S4

Explore the universe of human proteins at neXtProt for C3orf80: NX_F5H4A9

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_F5H4A9

    • C3orf80 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001161686.1  
    ENSEMBL proteins: 
     ENSP00000313324  

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    Uscn Proteins for C3orf80

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--


    C3orf80 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for C3orf80 gene

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

    ProtoNet protein and cluster: F5H4A9


    Function
    for C3orf80 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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    Pathways & Interactions
    for C3orf80 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 C3orf80

    Drugs & Compounds
    for C3orf80 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for C3orf80
    Search CenterWatch for drugs/clinical trials and news about C3orf80 / CC080 

    Transcripts
    for C3orf80 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,
    RNAi Products from EMD Millipore,
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    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 C3orf80 gene: 
    NM_001168214.1  

    Unigene Cluster for C3orf80:

    Chromosome 3 open reading frame 80
    Hs.729755  [show with all ESTs]
    Unigene Representative Sequence: NM_001168214
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000326474(uc021xgp.1)

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    Additional cDNA sequence: BC031660.1 

    2 DOTS entries:

    DT.75192699  DT.100675656 

    16 AceView cDNA sequences:

    BC031660 AI025819 AI569155 AW057589 BE348600 AW341084 BX450737 BX413510 
    BX420254 BX451607 AW572052 BF448324 BI598607 BI597698 BU175092 AW339411 

    GeneLoc Exon Structure


    Expression
    for C3orf80 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

    C3orf80 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTTTAGAAC

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

    C3orf80 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartEndocardiumCushion Mesenchymal CellsEndocardium
    OvaryPrimary FollicleGranulosa CellsOvary
    OvaryPrimordial FolliclePre-Granulosa CellsOvary
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See C3orf80 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C3orf80

    SOURCE GeneReport for Unigene cluster: Hs.729755
        SABiosciences Custom PCR Arrays for C3orf80
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    In Situ
    Assay Products:     
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    Orthologs
    for C3orf80 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 common ancestor of human and mouse.

    Orthologs for C3orf80 gene from 1/5 species (see all 5)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia 1110032F04Rik1 , 5 RIKEN cDNA 1110032F04 gene1, 5 89.16(n)1
    92.28(a)1    		   3 (32.06 cM)5
    687251  NM_001167996.11  NP_001161468.11 
     688695865 


    ENSEMBL Gene Tree for C3orf80 (if available)
    TreeFam Gene Tree for C3orf80 (if available) 

    Paralogs
    for C3orf80 gene

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

    Genomic Variants
    for C3orf80 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

    10/72 NCBI SNPs in C3orf80 are shown (see all 72)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1921872021,2
    		--159941431(+) TGCACA/GCCTGT 1 -- us2k10--------
    rs1449686011,2
    		--159941484(+) ACCCAA/GGAGGC 1 -- us2k10--------
    rs1835762621,2
    		--159941530(+) TCAAGC/TCCAAG 1 -- us2k10--------
    rs1139708951,2
    		C,--159941699(+) AATGTG/-GCCTT 1 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs1505502791,2
    		C--159941701(+) ATGTG-/GCCTTT 1 -- us2k10--------
    rs558159181,2
    		--159941702(+) ATGTGC/GCTTTG 1 -- us2k10--------
    rs789454781,2
    		C,,--159941703(+) TGTGCC/TTTTGA 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs2001384081,2
    		--159941703(+) GTGCC-/TTTTGA 1 -- us2k10--------
    rs1490579451,2
    		--159941710(+) TTGAAC/GAACCT 1 -- us2k10--------
    rs1858269991,2
    		--159941739(+) GCTCAA/GGTAAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for C3orf80 (159943423 - 159946000 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for C3orf80: --

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    Disorders / Diseases
    for C3orf80 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
    		   --

    Publications
    for C3orf80 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 C3orf80 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C3orf80)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (2006)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    3. 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)
    4. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (2001)

    External Searches for C3orf80 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 C3orf80 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 401097 HGNC: 40048 AceView: LOC401097 Ensembl:ENSG00000180044 euGenes: HUgn401097
    ECgene: C3orf80 H-InvDB: C3orf80

    Other Databases showing C3orf80 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing C3orf80 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
    		   --

    Intellectual Property
    for C3orf80 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for C3orf80 gene:
    Search GeneIP for patents involving C3orf80

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



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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
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