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FAM221A Gene

protein-coding   GIFtS: 35
GCID: GC07P023720

Family With Sequence Similarity 221, Member A

(Previous name: chromosome 7 open reading frame 46)
(Previous symbol: C7orf46)
  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)
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Aliases
Family With Sequence Similarity 221, Member A1 2
C7orf461 2 3
Chromosome 7 Open Reading Frame 461
Protein FAM221A2
Uncharacterized Protein C7orf462

External Ids:    HGNC: 279771   Entrez Gene: 3402772   Ensembl: ENSG000001887327   UniProtKB: A4D1613   

Export aliases for FAM221A gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for FAM221A Gene:
FAM221A (family with sequence similarity 221, member A) is a protein-coding gene. Diseases associated with FAM221A include tonsillitis, and cerebritis.


(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:
NC_000007.14  NT_007819.18  NC_018918.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for FAM221A
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM221A promoter sequence
   Search Chromatin IP Primers for FAM221A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM221A


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

Entrez Gene cytogenetic band: 7p15.3   Ensembl cytogenetic band:  7p15.3   HGNC cytogenetic band: 7p15.3

FAM221A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM221A gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P023720:  view genomic region     (about GC identifiers)

Start:
23,719,749 bp from pter      End:
23,742,868 bp from pter
Size:
23,120 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 23,771,548-23,794,068     

(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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: F221A_HUMAN, A4D161 (See protein sequence)
Recommended Name: Protein FAM221A  
Size: 298 amino acids; 33083 Da
Sequence caution: Sequence=AAH26000.1; Type=Frameshift; Positions=9; Sequence=AAH42034.1; Type=Frameshift;
Positions=101;
Secondary accessions: Q05CG4 Q4G0Q7 Q6P519
Alternative splicing: 3 isoforms:  A4D161-1   A4D161-2   A4D161-3   

Explore the universe of human proteins at neXtProt for FAM221A: NX_A4D161

Explore proteomics data for FAM221A at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FAM221A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001120836.1  NP_001120837.1  NP_954587.2  

    ENSEMBL proteins: 
     ENSP00000386927   ENSP00000342576   ENSP00000416525   ENSP00000404551   ENSP00000386900  
     ENSP00000386631  

    FAM221A Human Recombinant Protein 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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    1 InterPro protein domain:
     IPR026755 Fam221a/b

    Graphical View of Domain Structure for InterPro Entry A4D161

    ProtoNet protein and cluster: A4D161

    UniProtKB/Swiss-Prot: F221A_HUMAN, A4D161
    Similarity: Belongs to the FAM221 family


    FAM221A 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FAM221A
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FAM221A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FAM221A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FAM221A

    miRNA
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    miRTarBase miRNAs that target FAM221A:
    hsa-mir-100-5p (MIRT048428)

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    Search for qRT-PCR Assays for microRNAs that regulate FAM221A
    SwitchGear 3'UTR luciferase reporter plasmidFAM221A 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FAM221A

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    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FAM221A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM221A

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM221A


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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      --

    (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 FAM221A
    Interactions:

        Search GeneGlobe Interaction Network for FAM221A

    (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 FAM221A (F221A)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for FAM221A gene (3 alternative transcripts): 
    NM_001127364.1  NM_001127365.1  NM_199136.3  

    Unigene Cluster for FAM221A:

    Family with sequence similarity 221, member A
    Hs.592178  [show with all ESTs]
    Unigene Representative Sequence: NM_199136
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000409192 ENST00000344962(uc003swo.4 uc003swq.4 uc003swr.4)
    ENST00000429719(uc010kup.3) ENST00000462546(uc003swp.4) ENST00000446234
    ENST00000409653 ENST00000409994 ENST00000483090
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidFAM221A 3' UTR sequence
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM221A
    Primer
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    OriGene qPCR primer pairs and template standards for FAM221A
    OriGene qSTAR qPCR primer pairs in human, mouse for FAM221A
    Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat FAM221A
      QuantiTect SYBR Green Assays in human, mouse, rat FAM221A
      QuantiFast Probe-based Assays in human, mouse, rat FAM221A

    Additional mRNA sequence: 

    BC026000.1 BC042034.1 BC063130.1 

    8 DOTS entries:

    DT.100019933  DT.407049  DT.100661940  DT.100741443  DT.100741444  DT.206203  DT.99954505  DT.101978669 

    Selected AceView cDNA sequences (see all 74):

    BX106087 BX280883 BF002530 BG654877 CK429162 AW243380 BU726583 BX371430 
    AA432268 AI889973 BI964087 AI978711 BG720074 NM_199136 AK127774 CA867596 
    BI767875 BU602747 AA431258 AA759149 BX371429 BI964018 BU958830 AI889847 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for FAM221A (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9
    SP1:                                -                                                               
    SP2:                                -                 -                                             
    SP3:                          -     -                                                               
    SP4:                          -     -                 -                                             
    SP5:                                                                                -     -         


    ECgene alternative splicing isoforms for FAM221A

    (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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    FAM221A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    FAM221A Expression
    About this image


    FAM221A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Gonad
             Primordial Germ Cells Allantois
     
     Testis (Reproductive System)
             Secondary Spermatocyte Seminiferous Tubules
     
     Placenta (Extraembryonic Tissues)
             Primordial Germ Cells Allantois
    FAM221A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FAM221A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.592178
        Custom PCR Arrays for FAM221A
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for FAM221A
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM221A

    (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 chordates.

    Orthologs for FAM221A gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fam221a1 , 5 RIKEN cDNA D330028D13 gene5
    family with sequence similarity 221, member A1
    84(n)1
    82.55(a)1
      6 (23.87 cM)5
    2319461  NM_172727.31  NP_766315.11 
     493677395 
    chicken
    (Gallus gallus)
    Aves C2H7ORF461 chromosome 2 open reading frame, human C7orf46 73.1(n)
    76.21(a)
      420620  XM_418719.4  XP_418719.1 
    lizard
    (Anolis carolinensis)
    Reptilia FAM221A6
    family with sequence similarity 221, member A
    74(a)
    1 ↔ 1
    6(30657587-30669004)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.106212 Xenopus laevis transcribed sequences 74.63(n)    BX846006.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fam221a1 family with sequence similarity 221, member A 59.78(n)
    57.28(a)
      541338  NM_001013466.1  NP_001013484.1 


    ENSEMBL Gene Tree for FAM221A (if available)
    TreeFam Gene Tree for FAM221A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FAM221A gene
    14 SIMAP similar genes for FAM221A using alignment to 4 protein entries:     F221A_HUMAN (see all proteins):
    C12orf23    ATL2    LRRC36    LRTOMT    DAPK2    GNPTAB
    FAM3A    PSD3    CNOT2    ECD    FANCA    QTRT1
    THADA    BUB1B

    FAM221A for paralogs           About GeneDecksing



    (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 FAM221A (see all 584)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1890636841,2
    --23718012(+) TACACA/TTTGGG 3 -- us2k10--------
    rs1445079771,2
    --23718040(+) TTATAC/TCTTTT 3 -- us2k10--------
    rs1143108231,2
    C--23718130(+) TTCTAC/GTTTGT 3 -- us2k10--------
    rs1816134681,2
    --23718186(+) GGCCAA/GAAGAG 3 -- us2k10--------
    rs69677441,2
    C--23718403(+) GAATGG/Aggctg 3 -- us2k13Minor allele frequency- A:0.19CSA WA NA 240
    rs1175656151,2
    F--23718412(+) TGGGCG/ATGGTG 3 -- us2k11Minor allele frequency- A:0.01EA 120
    rs1863048991,2
    --23718433(+) GTAATC/TCCAGC 3 -- us2k10--------
    rs673510411,2
    C,F--23718528(+) AAAAT-/AC    
       
    /ACAC
    ACACA
    3 -- us2k12NA CSA 4
    rs1387980641,2
    C--23718528(+) AAAAT-/ACACACA 3 -- us2k10--------
    rs588770141,2
    C,F--23718723(+) GTAAAA/GTGGAC 3 -- us2k13Minor allele frequency- G:0.12WA 122

    HapMap Linkage Disequilibrium report for FAM221A (23719749 - 23742868 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for FAM221A: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FAM221A
    DNA2.0 Custom Variant and Variant Library Synthesis for FAM221A

    (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.)
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    5 diseases for FAM221A:    
    About MalaCards
    tonsillitis    cerebritis    thyroiditis    endotheliitis
    prostatitis


    FAM221A for disorders           About GeneDecksing


    Export disorders for FAM221A 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)
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    PubMed articles for FAM221A gene integrated from 10 sources:
    (articles sorted by number of sources associating them with FAM221A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    2. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
    3. 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. (Genome Res. 2004)
    4. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)2 Scherer S.W.... Tsui L.-C. (Science 2003)
    5. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)

    (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)
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    Entrez Gene: 340277 HGNC: 27977 AceView: MGC72075 Ensembl:ENSG00000188732 euGenes: HUgn340277
    ECgene: FAM221A H-InvDB: FAM221A

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for FAM221A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FAM221A gene:
    Search GeneIP for patents involving FAM221A

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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