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

FAM216A Gene

protein-coding   GIFtS: 34
GCID: GC12P110907

family with sequence similarity 216, member A

(Previous name: chromosome 12 open reading frame 24 )
(Previous symbol: C12orf24)
  Search for FAM216A
in our new
 Human Malady Compendium 
Biological research products
for FAM216A
    

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

Aliases
Family With Sequence Similarity 216, Member A1 2     Protein FAM216A2
C12orf241 2 3     Protein Predicted By Clone 237332
HSU792741 2     Uncharacterized Protein C12orf242
Chromosome 12 Open Reading Frame 241     

External Ids:    HGNC: 301801   Entrez Gene: 299022   Ensembl: ENSG000002048567   UniProtKB: Q8WUB23   

Export aliases for FAM216A 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

  --

(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_000012.11  NC_018923.1  NT_009775.17  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for FAM216A
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for FAM216A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM216A


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

Entrez Gene cytogenetic band: 12q24.11   Ensembl cytogenetic band:  12q24.11   HGNC cytogenetic band: 12q24.11

FAM216A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM216A gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P110907:  view genomic region     (about GC identifiers)

Start:
110,906,169 bp from pter      End:
110,928,192 bp from pter
Size:
22,024 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: F216A_HUMAN, Q8WUB2 (See protein sequence)
Recommended Name: Protein FAM216A  
Size: 273 amino acids; 30792 Da
Caution: It is uncertain whether Met-1 or Met-18 is the initiator
Secondary accessions: A6NH30 Q99776

Explore the universe of human proteins at neXtProt for FAM216A: NX_Q8WUB2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8WUB2

  • FAM216A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_037432.2  
    ENSEMBL proteins: 
     ENSP00000366901   ENSP00000444508   ENSP00000450157   ENSP00000448777   ENSP00000448594  
     ENSP00000448530  

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    Uscn ELISAs and CLIAs for FAM216A


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

    ProtoNet protein and cluster: Q8WUB2

    UniProtKB/Swiss-Prot: F216A_HUMAN, Q8WUB2
    Similarity: Belongs to the FAM216 family


    (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 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 FAM216A

    (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 FAM216A
    Search CenterWatch for drugs/clinical trials and news about FAM216A / F216A 

    (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 FAM216A gene: 
    NM_013300.2  

    Unigene Cluster for FAM216A:

    Family with sequence similarity 216, member A
    Hs.436618  [show with all ESTs]
    Unigene Representative Sequence: AK296280
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000377673(uc001tqu.4) ENST00000538285(uc009zvo.2) ENST00000548869(uc010sxz.1)
    ENST00000548449 ENST00000546396 ENST00000547539

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    Additional cDNA sequence: 

    AK225731.1 AK296280.1 AK297684.1 AK308802.1 AK309603.1 BC020967.1 CR457001.1 U79274.1 

    13 DOTS entries:

    DT.100791738  DT.113540  DT.100791739  DT.100799611  DT.95330984  DT.121216234  DT.91683593  DT.95248079 
    DT.121216085  DT.40314176  DT.435149  DT.75199270  DT.95254462 

    24/133 AceView cDNA sequences (see all 133):

    U79274 AA523887 BM714167 AA649004 AA451900 AV709924 CR623239 BQ440884 
    CR623722 AA287898 CR622941 CB121970 BX116128 AA764751 CR595487 BC020967 
    BQ943229 BU154781 NM_013300 CR609045 AI288620 CR622888 CR602160 BM794710 

    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

    FAM216A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAACATATAC

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

    About this image
    See FAM216A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM216A

    SOURCE GeneReport for Unigene cluster: Hs.436618
        SABiosciences Custom PCR Arrays for FAM216A
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    In Situ
    Assay Products:
     

     
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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 human and mouse.

    Orthologs for FAM216A gene from 1/6 species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fam216a1 , 5 RIKEN cDNA 1500011H22 gene5
    family with sequence similarity 216, member A1
    77.78(n)1
    71.6(a)1
      5 (62.33 cM)5
    689481  NM_026883.31  NP_081159.11 
     1223645805 


    ENSEMBL Gene Tree for FAM216A (if available)
    TreeFam Gene Tree for FAM216A (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

    10/354 NCBI SNPs in FAM216A are shown (see all 354    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1384038541,2
    --110904269(+) ACTGTC/TGTCTC 4 -- us2k1 int10--------
    rs790986271,2
    --110904324(+) TTTTTG/TGCAAA 4 -- us2k1 int11Minor allele frequency- T:0.00NA 2
    rs789569681,2
    --110904325(+) TTTTTG/TCAAAG 4 -- int1 us2k11Minor allele frequency- T:0.50NA 2
    rs1874089641,2
    --110904372(+) CATCAC/TAGCTC 4 -- int1 us2k10--------
    rs1903447321,2
    --110904615(+) TGTATA/CTTAAT 4 -- int1 us2k10--------
    rs1472516601,2
    --110904625(+) TTGACA/GGGTCA 4 -- us2k1 int10--------
    rs731918081,2
    C,--110904685(+) ATAGGT/CATCTT 4 -- int1 us2k15Minor allele frequency- C:0.12WA CSA NA EA 362
    rs1831957071,2
    --110904699(+) TACATG/TTACAT 4 -- us2k1 int10--------
    rs1496085451,2
    C,--110904704(+) ACATG-/TTTTTT 4 -- us2k1 int10--------
    rs1487082531,2
    --110904777(+) CTCCAA/CAGACT 4 -- int1 us2k10--------

    HapMap Linkage Disequilibrium report for FAM216A (110906169 - 110928192 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for FAM216A: --

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for FAM216A

    (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
      --

    (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 FAM216A gene integrated from 9 sources:
    (articles sorted by number of sources associating them with FAM216A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1, 2 Yu W.... Gibbs R.A. (1997)
    2. 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)
    3. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (2006)
    4. 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)
    5. 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)
    6. A "double adaptor" method for improved shotgun library construction. (PubMed id 8619474)1 Andersson B.... Gibbs R.A. (1996)

    (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: 29902 HGNC: 30180 AceView: HSU79274 Ensembl:ENSG00000204856 euGenes: HUgn29902
    ECgene: FAM216A H-InvDB: FAM216A

    (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 FAM216A 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 FAM216A gene:
    Search GeneIP for patents involving FAM216A

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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    About This Section

     
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     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM216A
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    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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