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

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)
  Search for FAM221A
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
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for FAM221A Gene: 
FAM221A (family with sequence similarity 221, member A) is a protein-coding 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007819.17  NC_018918.2  NT_079592.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for FAM221A
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_A4D161

  • FAM221A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FAM221A Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001120836.1  NP_001120837.1  NP_954587.2  

    ENSEMBL proteins: 
     ENSP00000386927   ENSP00000342576   ENSP00000416525   ENSP00000404551   ENSP00000386900  
     ENSP00000386631  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR026755 Fam221a

    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,
    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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for FAM221A 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FAM221A 
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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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FAM221A

    (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 FAM221A (F221A)

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 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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    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM221A
    Sirion Biotech Customized lentivirus for stable overexpression of FAM221A 
                         Customized lentivirus expression plasmids for stable overexpression of FAM221A 
    Primer
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    OriGene qPCR primer pairs and template standards for FAM221A
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    Search SABiosciences RT2 qPCR Primer Assays in human, mouse, rat FAM221A
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAM221A
      QIAGEN 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 

    24/74 AceView cDNA sequences (see all 74):

    AW243380 BX106087 BF002530 BU726583 BG654877 CK429162 BX280883 NM_199136 
    AW027079 AI889973 BC063130 AK127774 W32420 BG720074 BX371429 BC042034 
    AI628272 AA432268 BI767875 BI754337 CD250447 BQ955580 BQ938969 AI889847 

    GeneLoc Exon Structure

    5/6 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™, 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

    FAM221A expression in normal human tissues (normalized intensities)      FAM221A embryonic expression: see
    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 
     5/36 selected tissues (see all 36) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex

    See FAM221A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM221A

    SOURCE GeneReport for Unigene cluster: Hs.592178
        SABiosciences Custom PCR Arrays for FAM221A
    Primer
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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for FAM221A gene from 5/13 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_418719.3  XP_418719.1 
    lizard
    (Anolis carolinensis)
    Reptilia FAM221A6
    Uncharacterized protein
    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)
    About This Section
    Paralogs for FAM221A gene
    13 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    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) 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

    10/584 SNPs in FAM221A are shown (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: --
    SABiosciences Cancer Mutation 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.)
    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 FAM221A gene integrated from 9 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. (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. (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. (2004)
    4. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)2 Scherer S.W.... Tsui L.-C. (2003)
    5. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (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: 340277 HGNC: 27977 AceView: MGC72075 Ensembl:ENSG00000188732 euGenes: HUgn340277
    ECgene: FAM221A H-InvDB: FAM221A

    (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 FAM221A 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 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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    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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