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

FAM212A Gene

protein-coding   GIFtS: 37
GCID: GC03P049840

family with sequence similarity 212, member A

(Previous name: chromosome 3 open reading frame 54 )
(Previous symbol: C3orf54)
  Search for FAM212A
in
MalaCards
our new
 Human Malady Compendium 
Biological research products
for FAM212A    

Aliases
for FAM212A gene

(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 212, Member A1 2
C3orf541 2 3
Chromosome 3 Open Reading Frame 541
INKA12
Protein FAM212A2

External Ids:    HGNC: 324801   Entrez Gene: 3891192   Ensembl: ENSG000001856147   UniProtKB: Q96EL13   

Export aliases for FAM212A gene to outside databases


Summaries
for FAM212A 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 FAM212A 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_022517.18  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for FAM212A
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for FAM212A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM212A


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

Entrez Gene cytogenetic band: 3p21.31   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p21.31

FAM212A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM212A gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P049840:  view genomic region     (about GC identifiers)

Start:
 49,840,687 bp from pter      End:
 49,842,463 bp from pter
Size:
 1,777 bases      Orientation:
 plus strand

Proteins
for FAM212A 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: F212A_HUMAN, Q96EL1 (See protein sequence)
Recommended Name: Protein FAM212A  
Size: 285 amino acids; 31328 Da
Sequence caution: Sequence=AAH12170.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Explore the universe of human proteins at neXtProt for FAM212A: NX_Q96EL1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96EL1

    • FAM212A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_976248.1  
    ENSEMBL proteins: 
     ENSP00000329735  

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    Uscn Proteins for FAM212A


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    Protein Domains /
    Families
    for FAM212A gene

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

    ProtoNet protein and cluster: Q96EL1

    UniProtKB/Swiss-Prot: F212A_HUMAN, Q96EL1
    Similarity: Belongs to the FAM212 family


    Function
    for FAM212A 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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    1 GenomeRNAi human phenotype for FAM212A:
     Increased gamma-H2AX phosphory 

    Animal Models:
         3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Fam212a):
     mortality/aging  nervous system  reproductive system 

    FAM212A for phenotypes           About GeneDecksing


    Pathways & Interactions
    for FAM212A 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 FAM212A

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0021915neural tube development IEA--


    FAM212A for ontologies           About GeneDecksing



    Drugs & Compounds
    for FAM212A 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 FAM212A
    Search CenterWatch for drugs/clinical trials and news about FAM212A / F212A 

    Transcripts
    for FAM212A 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 FAM212A gene: 
    NM_203370.1  

    Unigene Cluster for FAM212A:

    Family with sequence similarity 212, member A
    Hs.86674  [show with all ESTs]
    Unigene Representative Sequence: NM_203370
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000333323(uc003cxq.1)

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    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FAM212A (see all 4)
    OriGene shRNA RFP: FAM212A
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    Clone
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    Primer
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    Additional cDNA sequence: BC012170.1 

    2 DOTS entries:

    DT.409083  DT.100642503 

    24/32 AceView cDNA sequences (see all 32):

    BC012170 AW630870 BQ183558 BM091149 NM_203370 BM091453 BM984354 AI742030 
    AI473361 AI263756 BM017138 AA401812 AI279680 BM019651 CB240961 AI278022 
    AI185782 AI804099 CA445080 BE549603 AA878279 AI701734 CA438413 AA215586 

    GeneLoc Exon Structure


    Expression
    for FAM212A 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

    FAM212A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGCTGTCGTA

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

    FAM212A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbLimb BudLimb Bud Mesenchyme CellsMesoderm
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See FAM212A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM212A

    SOURCE GeneReport for Unigene cluster: Hs.86674
        SABiosciences Custom PCR Arrays for FAM212A
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM212A

    Orthologs
    for FAM212A 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 chordates.

    Orthologs for FAM212A gene from 2/8 species (see all 8)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Fam212a1 , 5 RIKEN cDNA 6230427J02 gene5
    family with sequence similarity 212, member A1    		 83.1(n)1
    80.5(a)1    		   9 (59.07 cM)5
    681761  NM_026597.31  NP_080873.21 
     1079842275 
    zebrafish
    (Danio rerio)    		 Actinopterygii wufi03b072 wufi03b07 73.08(n)   327328  BC055656.1 


    ENSEMBL Gene Tree for FAM212A (if available)
    TreeFam Gene Tree for FAM212A (if available) 

    Paralogs
    for FAM212A gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FAM212A gene
    FAM212B2  

    FAM212A for paralogs           About GeneDecksing



    Genomic Variants
    for FAM212A 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

    10/47 NCBI SNPs in FAM212A are shown (see all 47)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1905208201,2
    		--49839255(+) CGTTGC/TCTGGA 1 -- us2k10--------
    rs1438281051,2
    		--49839360(+) AGGCCC/TCCATT 1 -- us2k10--------
    rs1824415621,2
    		--49839501(+) TCCAGA/CTCCTG 1 -- us2k10--------
    rs1403111241,2
    		--49839528(+) CCCTGG/TCTGCT 1 -- us2k10--------
    rs2010654331,2
    		C,--49839555(+) TTCTT-/CTTCTC
    CTTCTTCTC    CTTCT     		1 -- us2k10--------
    rs356804891,2
    		C,--49839611(+) CTTTC-/TTTTTT 1 -- us2k10--------
    rs1503263441,2
    		--49839946(+) CACCTC/TCTGTG 1 -- us2k10--------
    rs1870620091,2
    		--49840038(+) TACACC/TACCCT 1 -- us2k10--------
    rs1449233361,2
    		--49840114(+) AAGGGA/CATGCC 1 -- us2k10--------
    rs1490388981,2
    		--49840260(+) TCAGAA/CGGGCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for FAM212A (49840687 - 49842463 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for FAM212A: --

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    Disorders / Diseases
    for FAM212A 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 FAM212A 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 FAM212A gene integrated from 9 sources:
    (articles sorted by number of sources associating them with FAM212A)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    3. Generation and characterization of a novel neural cre st marker allele, Inka1-LacZ, reveals a role for Inka1 in mouse neural tube clo sure. (PubMed id 20175189)1 Reid B.S....Williams T. (2010)
    4. 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)
    5. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (2006)
    6. 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)

    External Searches for FAM212A 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 FAM212A gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 389119 HGNC: 32480 AceView: LOC389119 Ensembl:ENSG00000185614 euGenes: HUgn389119
    ECgene: FAM212A H-InvDB: FAM212A

    Other Databases showing FAM212A gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing FAM212A 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
    NameDescription
    PharmGKB entry for FAM212A Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for FAM212A gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for FAM212A gene:
    Search GeneIP for patents involving FAM212A

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



    Products
    for FAM212A gene

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    About This Section

     
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