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

HCFC2 Gene

protein-coding   GIFtS: 55
GCID: GC12P104458

Host Cell Factor C2

Microbiology & Infectious Diseases Congress
  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
Host Cell Factor C21 2
HCF-22 3
C2 Factor2 3
HCF22 5
Host Cell Factor 22

External Ids:    HGNC: 249721   Entrez Gene: 299152   Ensembl: ENSG000001117277   OMIM: 6079265   UniProtKB: Q9Y5Z73   

Export aliases for HCFC2 gene to outside databases

Previous GC identifers: GC12P102961 GC12P102962 GC12P101517


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

Entrez Gene summary for HCFC2 Gene:
This gene encodes one of two proteins which interact with VP16, a herpes simplex virus protein that initiates
virus infection. Both the encoded protein and the original Herpes host cell factor interact with VP16 through a
beta-propeller domain. The original Herpes host cell factor, however, is effective at initiating viral infection
while the encoded protein is not. Transcripts of varying length due to alternative polyadenylation signals have
been described. (provided by RefSeq, Jul 2008)

GeneCards Summary for HCFC2 Gene: 
HCFC2 (host cell factor C2) is a protein-coding gene. Diseases associated with HCFC2 include herpes simplex, and botulism, and among its related super-pathways are Influenza A. GO annotations related to this gene include transcription coactivator activity. An important paralog of this gene is KLHDC2.




(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_000012.11  NT_029419.12  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HCFC2 gene promoter:
         Sp1   Pbx1a   Olf-1   AP-4   POU3F2   POU2F1   FOXJ2 (long isoform)   POU2F1a   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHCFC2 promoter sequence
   Search SABiosciences Chromatin IP Primers for HCFC2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HCFC2


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

Entrez Gene cytogenetic band: 12q23.3   Ensembl cytogenetic band:  12q23.3   HGNC cytogenetic band: 12q23.3

HCFC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HCFC2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P104458:  view genomic region     (about GC identifiers)

Start:
104,458,235 bp from pter      End:
104,500,302 bp from pter
Size:
42,068 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: HCFC2_HUMAN, Q9Y5Z7 (See protein sequence)
Recommended Name: Host cell factor 2  
Size: 792 amino acids; 86779 Da
Subunit: Binds KMT2A/MLL1. Component of the MLL1/MLL complex, at least composed of KMT2A/MLL1, ASH2L, RBBP5,
DPY30, WDR5, MEN1, HCFC1 and HCFC2
Subcellular location: Cytoplasm. Nucleus
Secondary accessions: B2R8Q5

Explore the universe of human proteins at neXtProt for HCFC2: NX_Q9Y5Z7

Explore proteomics data for HCFC2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y5Z7

  • HCFC2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HCFC2 Protein Expression
    REFSEQ proteins: NP_037452.1  
    ENSEMBL proteins: 
     ENSP00000229330   ENSP00000442942   ENSP00000447952  

    Human Recombinant Protein Products for HCFC2: 
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    Cloud-Clone Corp. Proteins for HCFC2 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IDA10196288

    HCFC2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR003961 Fibronectin_type3
     IPR013783 Ig-like_fold
     IPR015916 Gal_Oxidase_b-propeller
     IPR015915 Kelch-typ_b-propeller

    Graphical View of Domain Structure for InterPro Entry Q9Y5Z7

    ProtoNet protein and cluster: Q9Y5Z7

    1 Blocks protein domain: IPB000515 Binding-protein-dependent transport systems inner membrane component

    UniProtKB/Swiss-Prot: HCFC2_HUMAN, Q9Y5Z7
    Similarity: Contains 3 fibronectin type-III domains
    Similarity: Contains 4 Kelch repeats


    HCFC2 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:0003713transcription coactivator activity TAS10196288
    GO:0005515protein binding ----
         
    HCFC2 for ontologies           About GeneDecksing


    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidHCFC2 3' UTR sequence
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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

    SuperPaths for HCFC2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Influenza A
    Herpes simplex infection0.33

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1         Kegg Pathway  (Kegg details for HCFC2):
        Herpes simplex infection


    HCFC2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HCFC2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/16 Interacting proteins for HCFC2 (Q9Y5Z73 ENSP000002293304) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RBBP5Q152913, ENSP000002645154I2D: score=2 STRING: ENSP00000264515
    ASH2LQ9UBL33, ENSP000003408964I2D: score=1 STRING: ENSP00000340896
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    HCFC1P516103, ENSP000003095554I2D: score=1 STRING: ENSP00000309555
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ISS--
    GO:0006357regulation of transcription from RNA polymerase II promoter TAS10196288
    GO:0016032viral process TAS10196288

    HCFC2 for ontologies           About GeneDecksing



    (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 HCFC2

    Search CenterWatch for drugs/clinical trials and news about HCFC2

    (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 HCFC2 gene: 
    NM_013320.2  

    Unigene Cluster for HCFC2:

    Host cell factor C2
    Hs.506558  [show with all ESTs]
    Unigene Representative Sequence: NM_013320
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000229330(uc001tkj.4 uc009zul.3) ENST00000544223 ENST00000550444
    ENST00000547194 ENST00000550335 ENST00000552343
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/80 QIAGEN miScript miRNA Assays for microRNAs that regulate HCFC2 (see all 80):
    hsa-miR-520e hsa-miR-485-3p hsa-miR-605 hsa-miR-30d hsa-miR-3653 hsa-miR-30a hsa-miR-642b hsa-miR-200b
    SwitchGear 3'UTR luciferase reporter plasmidHCFC2 3' UTR sequence
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    Additional mRNA sequence: 

    AF117210.1 AK223342.1 AK296523.1 AK313466.1 BC033799.1 

    8 DOTS entries:

    DT.213417  DT.409633  DT.100779817  DT.95375371  DT.121164082  DT.91886501  DT.100770601  DT.40125488 

    24/91 AceView cDNA sequences (see all 91):

    NM_013320 AI972100 BF063352 CA450011 BM672018 AA600253 AF117210 CA430675 
    BX116970 CB136198 AA298808 CA432700 AL138197 AA303058 AA292637 BC006558 
    AA806783 AA844108 AL601403 BC033799 AI670821 AA917528 BX484383 AA382777 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for HCFC2 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for HCFC2

    (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

    HCFC2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATGAAGGAC
    HCFC2 Expression
    About this image


    See HCFC2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HCFC2

    SOURCE GeneReport for Unigene cluster: Hs.506558

    UniProtKB/Swiss-Prot: HCFC2_HUMAN, Q9Y5Z7
    Tissue specificity: Highly expressed in testis. Detected at lower levels in spleen, thymus, prostate, ovary, small
    intestine and colon

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    (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 HCFC2 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hcfc21 , 5 host cell factor C21, 5 86.78(n)1
    88.69(a)1
      10 (39.93 cM)5
    679331  NM_001081218.11  NP_001074687.11 
     826961605 
    chicken
    (Gallus gallus)
    Aves HCFC21 host cell factor C2 76.19(n)
    78.12(a)
      418083  XM_001234927.2  XP_001234928.2 
    lizard
    (Anolis carolinensis)
    Reptilia HCFC26
    Uncharacterized protein
    67(a)
    1 ↔ 1
    5(18230240-18249537)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.172372 Transcribed sequence with weak similarity to protein more 76.81(n)    AL959953.2 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.184042 Transcribed sequence with moderate similarity to protein more 76.44(n)    AL918253.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Hcf6
    Host cell factor
    22(a)
    1 → many
    4(380578-395599)
    worm
    (Caenorhabditis elegans)
    Secernentea hcf-16
    Protein HCF-1
    38(a)
    1 → many
    IV(7770768-7774270)


    ENSEMBL Gene Tree for HCFC2 (if available)
    TreeFam Gene Tree for HCFC2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HCFC2 gene
    KLHDC22  KLHDC32  HCFC12  KLHDC12  LZTR12  RABEPK2  KLHDC102  
    1 SIMAP similar gene for HCFC2 using alignment to 3 protein entries:     HCFC2_HUMAN (see all proteins):
    HCFC1

    HCFC2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for HCFC2
    PGOHUM00000248683


    (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

    10/797 SNPs in HCFC2 are shown (see all 797)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1118481711,2
    C--104456387(+) AATTTC/TTTCTT 1 -- us2k11Minor allele frequency- T:0.50NA 2
    rs750345801,2
    C--104456391(+) TTTTCG/TTCCAC 1 -- us2k10--------
    rs1419733211,2
    --104456396(+) TTCCAC/GTGGAC 1 -- us2k10--------
    rs43401241,2
    C,F,A,H--104456428(+) CTTTAA/CTAAAA 1 -- us2k1 tfbs36Minor allele frequency- C:0.12NS NA EA 370
    rs1473305161,2
    C--104456520(+) AGTGCC/TGGGAT 1 -- us2k10--------
    rs1402828121,2
    --104456611(+) ACAATA/GTGAAG 1 -- us2k10--------
    rs1175948781,2
    C,F--104456642(+) GGTCCC/TCAGTC 1 -- us2k11Minor allele frequency- T:0.02NA 120
    rs1819242761,2
    --104456664(+) GTCCTC/TGGCCT 1 -- us2k10--------
    rs1442323491,2
    --104456665(+) TCCTCA/GGCCTG 1 -- us2k10--------
    rs1862964731,2
    --104456722(+) ACCGCA/GCATTA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for HCFC2 (104458235 - 104500302 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for HCFC2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2746314CNV Deletion23290073
    esv2746313CNV Deletion23290073

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing HCFC2
    DNA2.0 Custom Variant and Variant Library Synthesis for HCFC2

    (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
    OMIM gene information: 607926    OMIM disorders: --

    7 diseases for HCFC2:    About MalaCards
    herpes simplex    botulism    influenza    kaposi's sarcoma
    sarcoma    leukemia    prostatitis

    1 disease from the University of Copenhagen DISEASES database for HCFC2:
    Botulism

    HCFC2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): HCFC2

    Export disorders for HCFC2 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 HCFC2 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with HCFC2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Herpes simplex virus transactivator VP16 discriminates between HCF-1 and a novel family member, HCF-2. (PubMed id 10196288)1, 2, 3 Johnson K.M.... Wilson A.C. (1999)
    2. Leukemia proto-oncoprotein MLL forms a SET1-like histone methyltransferase complex with menin to regulate Hox gene expression. (PubMed id 15199122)1, 2 Yokoyama A.... Cleary M.L. (2004)
    3. 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)
    4. A protein array screen for Kaposi's sarcoma-associated herpesvirus LANA interactors links LANA to TIP60, PP2A activity, and telomere s hortening. (PubMed id 22379092)1 Shamay M....Hayward S.D. (2012)
    5. Mapping a dynamic innate immunity protein interaction network regulating type I interferon production. (PubMed id 21903422)1 Li S....Dorf M.E. (2011)
    6. A lentiviral functional proteomics approach identifies chromatin remodeling complexes important for the induction of pluripotency. (PubMed id 20305087)1 Mak A.B....Moffat J. (2010)
    7. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 29915 HGNC: 24972 AceView: HCFC2 Ensembl:ENSG00000111727 euGenes: HUgn29915
    ECgene: HCFC2 Kegg: 29915 H-InvDB: HCFC2

    (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 HCFC2 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 HCFC2 gene:
    Search GeneIP for patents involving HCFC2

    GeneCards and IP:
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