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

FAM189A2 Gene

protein-coding   GIFtS: 45
GCID: GC09P071939

family with sequence similarity 189, member A2

(Previous name: chromosome 9 open reading frame 61 )
(Previous symbol: C9orf61)
 Explore 4 diseases affiliated with
FAM189A2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for FAM189A2    

Aliases
for FAM189A2 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 189, Member A21 2     RP11-548B3.12
X1231 2 3 5     Friedreich Ataxia Region Gene X1232
C9orf611 2 3     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


Summaries
for FAM189A2 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 FAM189A2 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_000009.11  NC_018920.1  NT_008470.19  
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

Proteins
for FAM189A2 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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q15884

    • FAM189A2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000257515   ENSP00000304435   ENSP00000366422   ENSP00000395675  

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    Browse ProSpec Recombinant Proteins
    Uscn 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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    Uscn Antibodies for FAM189A2
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    Uscn ELISAs and CLIAs for FAM189A2

    Protein Domains /
    Families
    for FAM189A2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    FAM189A2 for domains           About GeneDecksing

    1 InterPro domain/family:
     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


    Function
    for FAM189A2 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
    Products:            		 OriGene 3'-UTR Clone (see all 2): FAM189A2
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FAM189A2
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate FAM189A2:
    hsa-miR-3121-3p hsa-miR-450b-5p
    SwitchGear 3'UTR luciferase reporter plasmid: FAM189A2 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: FAM189A2
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    Gene Editing
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    Clone
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    Search LifeMap BioReagents cell lines for FAM189A2

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM189A2

    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



    Pathways & Interactions
    for FAM189A2 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 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



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

    Transcripts
    for FAM189A2 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 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 plasmid: FAM189A2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FAM189A2 (see all 4)
    OriGene shRNA RFP: FAM189A2
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    Clone
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    Primer
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    Additional cDNA 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):

    BC021685 AW205253 BI771919 BF516006 BX282233 AK126127 NM_004816 AA442973 
    AW000728 R15436 AW779892 AA478205 H24769 BX641153 AI240080 AI961387 
    CN479062 BM829134 F26848 CD366853 AK056152 H24817 AA555018 F35811 

    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

    Expression
    for FAM189A2 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

    FAM189A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTACTTTGG

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

    FAM189A2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    ES04(HES-4) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Line H9 (WA09) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Definitive endoderm-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
    Assay Products:     
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    Orthologs
    for FAM189A2 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 FAM189A2 gene from 3/11 species (see all 11)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 63(a)
    		 1 ↔ 1
    		 2(49552932-49595397)
    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
    for FAM189A2 gene

    (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



    Genomic Variants
    for FAM189A2 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

    10/1349 NCBI SNPs in FAM189A2 are shown (see all 1349)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 9 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1820407691,2
    		--71937491(+) CAAATG/TACAAC 1 -- us2k10--------
    rs736496481,2
    		C,--71937569(+) TTTTTT/ATTAAG 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1454547011,2
    		C--71937569(+) TTTTT-/ATTAAG 1 -- us2k10--------
    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--------
    rs1432855601,2
    		--71937727(+) TGATAA/TTTTTA 1 -- us2k10--------
    rs1483019921,2
    		--71937760(+) GGTAGC/TGTTAC 1 -- us2k10--------
    rs1429528401,2
    		--71937968(+) GAAAAA/CGGCTT 1 -- us2k10--------
    rs800485441,2
    		--71938079(+) TTCACA/CAAATG 1 -- us2k12Minor allele frequency- C:0.04CSA WA 120

    HapMap Linkage Disequilibrium report for FAM189A2 (71939488 - 72007371 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for FAM189A2: --

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for FAM189A2

    Disorders / Diseases
    for FAM189A2 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
    FAM189A2 for disorders           About GeneDecksing

    OMIM gene information: 607710    OMIM disorders: --

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


    Export disorders for FAM189A2 gene to outside databases

    Publications
    for FAM189A2 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 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. 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)
    5. 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)
    6. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)
    7. 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)
    8. 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 FAM189A2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing FAM189A2 gene

    (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

    Other Databases showing FAM189A2 gene

    (According to HUGE)
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    Specialized Databases showing FAM189A2 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 FAM189A2 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for FAM189A2 gene

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    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    		Patent Information for FAM189A2 gene:
    Search GeneIP for patents involving FAM189A2

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