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FAM171A2 Gene

protein-coding   GIFtS: 43
GCID: GC17M042430

Family With Sequence Similarity 171, Member A2

  Search for FAM171A2
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 171, Member A21 2
Protein FAM171A22

External Ids:    HGNC: 304801   Entrez Gene: 2840692   Ensembl: ENSG000001616827   UniProtKB: A8MVW03   

Export aliases for FAM171A2 gene to outside databases

Previous GC identifers: GC17M039788 GC17M038196


(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 FAM171A2 Gene:
FAM171A2 (family with sequence similarity 171, member A2) is a protein-coding gene. An important paralog of this gene is FAM171B.


(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_000017.11  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the FAM171A2 gene promoter:
         GR   SRF   p53   AML1a   GR-beta   SRF (504 AA)   AREB6   Pax-3   GR-alpha   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for FAM171A2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM171A2


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

Entrez Gene cytogenetic band: 17q21.31   Ensembl cytogenetic band:  17q21.31   HGNC cytogenetic band: 17q21.31

FAM171A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM171A2 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M042430:  view genomic region     (about GC identifiers)

Start:
42,430,583 bp from pter      End:
42,441,243 bp from pter
Size:
10,661 bases      Orientation:
minus strand

(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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: F1712_HUMAN, A8MVW0 (See protein sequence)
Recommended Name: Protein FAM171A2 precursor  
Size: 826 amino acids; 87435 Da
Secondary accessions: A8MQB4

Explore the universe of human proteins at neXtProt for FAM171A2: NX_A8MVW0

Explore proteomics data for FAM171A2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys258
  • Glycosylation2 at Asn66, Asn201, Asn221, Asn265
  • Modification sites at PhosphoSitePlus

  • See FAM171A2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_940877.2  
    ENSEMBL proteins: 
     ENSP00000293443   ENSP00000466195   ENSP00000466493  

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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:
     IPR018890 Uncharacterised_FAM171

    Graphical View of Domain Structure for InterPro Entry A8MVW0

    ProtoNet protein and cluster: A8MVW0

    UniProtKB/Swiss-Prot: F1712_HUMAN, A8MVW0
    Similarity: Belongs to the FAM171 family


    FAM171A2 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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    Phenotypes:
         1 GenomeRNAi human phenotype for FAM171A2:
     Increased HPV18 LCR reporter a 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FAM171A2
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM171A2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    F1712_HUMAN, A8MVW0: Membrane; Single-pass type I membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular2
    plasma membrane2
    endoplasmic reticulum1
    lysosome1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    FAM171A2 for ontologies           About GeneDecksing


    (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 FAM171A2
    Interactions:

        Search GeneGlobe Interaction Network for FAM171A2

    (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 FAM171A2 (F1712)



    (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,
    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 FAM171A2 gene: 
    NM_198475.2  

    Unigene Cluster for FAM171A2:

    Family with sequence similarity 171, member A2
    Hs.154001  [show with all ESTs]
    Unigene Representative Sequence: NM_198475
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000293443(uc002igs.2) ENST00000589407 ENST00000588067 ENST00000592560

    miRNA
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FAM171A2
      QuantiTect SYBR Green Assays in human, mouse, rat FAM171A2
      QuantiFast Probe-based Assays in human, mouse, rat FAM171A2

    Additional mRNA sequence: 

    BC029298.1 BC030200.1 

    7 DOTS entries:

    DT.100669492  DT.75101520  DT.97770192  DT.100781190  DT.100756336  DT.75108173  DT.95273632 

    1 AceView cDNA sequence:

    BQ962759 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for FAM171A2    About this scheme

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


    ECgene alternative splicing isoforms for FAM171A2

    (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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    FAM171A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCGCAGCTCA
    FAM171A2 Expression
    About this image

    FAM171A2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FAM171A2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.154001
        Custom PCR Arrays for FAM171A2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM171A2

    (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 FAM171A2 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fam171a21 , 5 family with sequence similarity 171, member A21, 5 87.59(n)1
    92.21(a)1
      11 (66.29 cM)5
    2172191  NM_199200.21  NP_954670.21 
     1024369815 
    lizard
    (Anolis carolinensis)
    Reptilia FAM171A26
    family with sequence similarity 171, member A2
    63(a)
    1 ↔ 1
    6(64089842-64104896)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.119032 Xenopus laevis transcribed sequences 78.16(n)    48025716 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5563981 protein FAM171A2-like 53.78(n)
    48.49(a)
      556398  XM_679189.4  XP_684281.2 


    ENSEMBL Gene Tree for FAM171A2 (if available)
    TreeFam Gene Tree for FAM171A2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FAM171A2 gene
    FAM171B2  FAM171A12  
    2 SIMAP similar genes for FAM171A2 using alignment to 3 protein entries:     F1712_HUMAN (see all proteins):
    C10orf38    FAM171A1

    FAM171A2 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 FAM171A2 (see all 196)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1434562721,2
    C--42431032(+) CCCGC-/GGGC  
      CCCCGG
    GGCGC
    1 -- ds50010--------
    rs1408828951,2
    C--42431524(+) GAGTCC/TAGGCT 2 L syn10--------
    rs1458344271,2
    --42431902(+) GGCTCA/GTCGCC 2 D syn10--------
    rs750924541,2
    C--42432008(+) GGTCGA/TTGGAG 2 N I mis10--------
    rs760548611,2
    C--42432013(+) ATGGAA/GCCGCA 2 G syn10--------
    rs126016701,2
    H--42432179(+) AGGCCG/TCAGCC 2 E A mis1 ese30--------
    rs1892516741,2
    --42432295(+) GAAGGA/CTCGGC 2 E D mis10--------
    rs1429305081,2
    --42432586(+) GGGCCA/GCTCAG 1 -- int10--------
    rs1433938591,2
    --42432625(+) AACCCA/CCTTAG 1 -- int10--------
    rs124515211,2
    C,H--42432774(+) TGCGAA/GAACCA 1 -- int10--------

    HapMap Linkage Disequilibrium report for FAM171A2 (42430583 - 42441243 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for FAM171A2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv26446CNV Loss19812545
    dgv3176n71CNV Loss21882294
    dgv3175n71CNV Loss21882294
    nsv908270CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
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    (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.)
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      --

    (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 FAM171A2 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with FAM171A2)
        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. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    3. New gene functions in megakaryopoiesis and platelet formation. (PubMed id 22139419)1 Gieger C....Soranzo N. (Nature 2011)
    4. Mass-spectrometric identification and relative quantification of N- linked cell surface glycoproteins. (PubMed id 19349973)2 Wollscheid B.... Watts J.D. (Nat. Biotechnol. 2009)
    5. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (Nature 2006)

    (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: 284069 HGNC: 30480 AceView: MGC34829 Ensembl:ENSG00000161682 euGenes: HUgn284069
    ECgene: FAM171A2 H-InvDB: FAM171A2

    (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 FAM171A2 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 FAM171A2 gene:
    Search GeneIP for patents involving FAM171A2

    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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