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

FAM189A2 Gene

protein-coding   GIFtS: 46
GCID: GC09P071939

Family With Sequence Similarity 189, Member A2

(Previous name: chromosome 9 open reading frame 61)
(Previous symbol: C9orf61)
  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)
About This Section

Aliases
Family With Sequence Similarity 189, Member A21 2     RP11-548B3.12
C9orf611 2 3     Friedreich Ataxia Region Gene X1232
X1232 3 5     Protein FAM189A22
Chromosome 9 Open Reading Frame 611     Protein X1233

External Ids:    HGNC: 248201   Entrez Gene: 94132   Ensembl: ENSG000001350637   OMIM: 6077105   UniProtKB: Q158843   

Export aliases for FAM189A2 gene to outside databases

Previous GC identifers: GC09P071134 GC09P041778


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for FAM189A2 Gene: 
FAM189A2 (family with sequence similarity 189, member A2) is a protein-coding gene. Diseases associated with FAM189A2 include corneal ectasia, and friedreich ataxia. GO annotations related to this gene include molecular_function. An important paralog of this gene is FAM189A1.


(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_000009.11  NT_008470.19  NC_018920.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for FAM189A2
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for FAM189A2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM189A2


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

Entrez Gene cytogenetic band: 9q21.11   Ensembl cytogenetic band:  9q21.11   HGNC cytogenetic band: 9q21.11

FAM189A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM189A2 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P071939:  view genomic region     (about GC identifiers)

Start:
71,939,488 bp from pter      End:
72,007,371 bp from pter
Size:
67,884 bases      Orientation:
plus strand

(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: F1892_HUMAN, Q15884 (See protein sequence)
Recommended Name: Protein FAM189A2 precursor  
Size: 450 amino acids; 49703 Da
Subcellular location: Membrane; Single-pass type I membrane protein (Potential)
Sequence caution: Sequence=AAA61301.1; Type=Erroneous initiation; Sequence=CAI15446.1; Type=Erroneous initiation;
Secondary accessions: Q14CN5 Q5T6C8 Q5T6C9 Q6ZTX4 Q96N10
Alternative splicing: 3 isoforms:  Q15884-3   Q15884-1   Q15884-2   (Ref.1 (AAA61301) sequence is in conflict in position: 19:C->CYS)

Explore the universe of human proteins at neXtProt for FAM189A2: NX_Q15884

Explore proteomics data for FAM189A2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q15884

  • FAM189A2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FAM189A2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001121080.1  NP_004807.3  

    ENSEMBL proteins: 
     ENSP00000257515   ENSP00000304435   ENSP00000366422   ENSP00000395675  

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    Cloud-Clone Corp. Proteins for FAM189A2 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0016021integral to membrane IEA--

    FAM189A2 for ontologies           About GeneDecksing



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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:
     IPR007237 CD20-like

    Graphical View of Domain Structure for InterPro Entry Q15884

    ProtoNet protein and cluster: Q15884

    UniProtKB/Swiss-Prot: F1892_HUMAN, Q15884
    Similarity: Belongs to the FAM189 family


    FAM189A2 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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    FAM189A2 for ontologies           About GeneDecksing


    Animal Models:
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM189A2


    (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 FAM189A2

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5 Interacting proteins for FAM189A2 (Q158843 ENSP000002575154) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SFNP319473, ENSP000003409894I2D: score=3 STRING: ENSP00000340989
    BAG3O958173, ENSP000003580814I2D: score=3 STRING: ENSP00000358081
    CALCOCO2Q131373I2D: score=1 
    OPTNQ96CV93I2D: score=1 
    STAM2O758863I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    FAM189A2 for ontologies           About GeneDecksing



    (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 FAM189A2 (F1892)

    Search CenterWatch for drugs/clinical trials and news about FAM189A2 / F1892

    (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 FAM189A2 gene (2 alternative transcripts): 
    NM_001127608.1  NM_004816.3  

    Unigene Cluster for FAM189A2:

    Family with sequence similarity 189, member A2
    Hs.118003  [show with all ESTs]
    Unigene Representative Sequence: NM_004816
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000257515(uc004ahg.2) ENST00000303068(uc010moo.1) ENST00000460871
    ENST00000469179 ENST00000377216 ENST00000455972(uc010mon.1)
    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate FAM189A2:
    hsa-miR-3121-3p hsa-miR-450b-5p
    SwitchGear 3'UTR luciferase reporter plasmidFAM189A2 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK056152.1 AK126127.1 BC021685.1 BC113683.1 BC113685.1 L27479.1 

    7 DOTS entries:

    DT.100661319  DT.101981483  DT.444402  DT.96085237  DT.121189933  DT.437053  DT.95310922 

    24/48 AceView cDNA sequences (see all 48):

    BF516006 NM_004816 AK126127 AA442973 BI771919 BC021685 AW205253 BX282233 
    AA478205 CN479062 H24769 BX641153 AI240080 F26848 AI961387 BM829134 
    R15436 AW779892 AW000728 CD366853 AK056152 BX470496 AA573429 AI198786 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for FAM189A2 (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12
    SP1:              -                                   -     -                                   -                     
    SP2:                    -                             -     -                                   -                     
    SP3:                                                  -     -                                   -     -     -         
    SP4:              -                                                                                                   
    SP5:                                                  -     -                                                         


    ECgene alternative splicing isoforms for FAM189A2

    (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

    FAM189A2 expression in normal human tissues (normalized intensities)      FAM189A2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTACTTTGG
    FAM189A2 Expression
    About this image


    FAM189A2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Inner Cell Mass (Early Embryonic Tissues)
             Line H9 (WA09)
     
     Ear (Sensory Organs)
             cochlea   
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter
     
     Lung (Respiratory System)

    See FAM189A2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM189A2

    SOURCE GeneReport for Unigene cluster: Hs.118003

    UniProtKB/Swiss-Prot: F1892_HUMAN, Q15884
    Tissue specificity: Prominently expressed in muscle

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    In Situ
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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 chordates.

    Orthologs for FAM189A2 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fam189a21 , 5 family with sequence similarity 189, member A21, 5 83.85(n)1
    87.33(a)1
      19 (19.00 cM)5
    3812171  NM_001114174.11  NP_001107646.11 
     239727515 
    chicken
    (Gallus gallus)
    Aves FAM189A21 family with sequence similarity 189, member A2 69.81(n)
    72.81(a)
      427245  XM_424828.3  XP_424828.3 
    lizard
    (Anolis carolinensis)
    Reptilia FAM189A26
    family with sequence similarity 189, member A2
    72(a)
    1 ↔ 1
    2(49552932-49596012)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005370241 protein FAM189A2-like 62.03(n)
    61.86(a)
      100537024  XM_003198684.1  XP_003198732.1 


    ENSEMBL Gene Tree for FAM189A2 (if available)
    TreeFam Gene Tree for FAM189A2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FAM189A2 gene
    FAM189A12  FAM189B2  
    1 SIMAP similar gene for FAM189A2 using alignment to 1 protein entry:     F1892_HUMAN:
    DKFZp686J24109

    FAM189A2 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

    10/1586 SNPs in FAM189A2 are shown (see all 1586)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1939210101,2
    Cuntested172000704(+) TTTTT-/A/TA  
            
    AATCA
    2 -- int10--------
    rs348841901,2
    C--41811302(+) TCTAC-/A/AA  
            
    AAAAA
    2 -- int10--------
    rs339188231,2
    C--71896825(+) GTCTC-/AAAAAA 2 -- int11Minor allele frequency- A:0.50NA 2
    rs1820407691,2
    --71937491(+) CAAATG/TACAAC 1 -- us2k10--------
    rs114592231,2
    C--71937551(+) TTTTT-/T/TT  
            
    ATTAA
    1 -- us2k1 trp30--------
    rs680254431,2
    C--71937569(+) TTTTT-/A/AT  
            
    TTAAG
    1 -- us2k11NA 2
    rs736496481,2
    C--71937569(+) TTTTTT/ATTAAG 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1455544261,2
    --71937676(+) GGAGAC/TGCAAA 1 -- us2k10--------
    rs610419641,2
    C--71937677(+) GAGATG/ACAAAG 1 -- us2k13Minor allele frequency- A:0.15CSA WA NA 240
    rs1491776881,2
    --71937689(+) ATCAAG/TCTTGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for FAM189A2 (71939488 - 72007371 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for FAM189A2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2738536CNV Deletion23290073
    esv2738537CNV Deletion23290073
    esv1110839CNV Deletion17803354
    nsv893431CNV Loss21882294
    nsv415460CNV Loss16902084
    nsv893428CNV Gain21882294
    dgv8247n71CNV Gain21882294
    nsv831610CNV Gain17160897

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    (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
    OMIM gene information: 607710    OMIM disorders: --

    4 diseases for FAM189A2:    About MalaCards
    corneal ectasia    friedreich ataxia    keratoconus    ataxia


    FAM189A2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): FAM189A2

    Export disorders for FAM189A2 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)
    About This Section

    PubMed articles for FAM189A2 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with FAM189A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The Friedreich ataxia region: characterization of two novel genes and reduction of the critical region to 300 kb. (PubMed id 7951235)1, 2, 3 Duclos F.... Koenig M. (1994)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    4. A genome-wide association study of seasonal pattern ma nia identifies NF1A as a possible susceptibility gene for bipolar disorder. (PubMed id 22925353)1 Lee H.J....Kelsoe J.R. (2013)
    5. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    6. Genome-wide association with select biomarker traits in the Framingham Heart Study. (PubMed id 17903293)4 Benjamin E.J....Vasan R.S. (2007)
    7. 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)
    8. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)
    9. 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)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9413 HGNC: 24820 AceView: C9orf61 Ensembl:ENSG00000135063 euGenes: HUgn9413
    ECgene: FAM189A2 H-InvDB: FAM189A2

    (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 FAM189A2 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 FAM189A2 gene:
    Search GeneIP for patents involving FAM189A2

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



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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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