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

FAM188A Gene

protein-coding   GIFtS: 48
GCID: GC10M015820

family with sequence similarity 188, member A

(Previous name: chromosome 10 open reading frame 97 )
(Previous symbol: C10orf97)
 Explore 4 diseases affiliated with
FAM188A via our new
 Human Malady Compendium 
Biological research products
for FAM188A
    

(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 188, Member A1 2     Chromosome 10 Open Reading Frame 971
C10orf971 2 3 5     MST1262
CARP1 2 3 5     RP11-394I23.12
DERP51 2 3     CARD-Containing Protein2
My0421     Caspase Recruitment Domain Containing Pro-Apoptotic Protein2
Dermal Papilla-Derived Protein 52 3     Protein FAM188A2
FLJ133971     Protein CARP3

External Ids:    HGNC: 235781   Entrez Gene: 800132   Ensembl: ENSG000001484817   OMIM: 6116495   UniProtKB: Q9H8M73   

Export aliases for FAM188A 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

Entrez Gene summary for FAM188A:
C10ORF97 is a member of the caspase-associated recruitment domain (CARD) family of proteins that play a role in
apoptosis (Liu et al., 2002 (PubMed 12054670)).(supplied by OMIM, Mar 2008)

UniProtKB/Swiss-Prot: F188A_HUMAN, Q9H8M7
Function: May have pro-apoptotic function. Overexpression significantly inhibits cell proliferation in several tumor
cell lines




(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_000010.10  NC_018921.1  NT_008705.16  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for FAM188A
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM188A promoter sequence
   Search SABiosciences Chromatin IP Primers for FAM188A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM188A


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

Entrez Gene cytogenetic band: 10p13   Ensembl cytogenetic band:  10p13   HGNC cytogenetic band: 10p13

FAM188A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM188A gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M015820:  view genomic region     (about GC identifiers)

Start:
15,820,169 bp from pter      End:
15,902,519 bp from pter
Size:
82,351 bases      Orientation:
minus strand

(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: F188A_HUMAN, Q9H8M7 (See protein sequence)
Recommended Name: Protein FAM188A  
Size: 445 amino acids; 49725 Da
Subcellular location: Nucleus
Caution: Was named CARP for 'CARD domain-containing protein' by PubMed:12054670. However, no CARD domain is detected by
any prediction tool
Sequence caution: Sequence=AAG43159.1; Type=Erroneous initiation; Sequence=AAH61585.1; Type=Miscellaneous discrepancy;
Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAQ13660.1; Type=Frameshift; Positions=111;
Sequence=CAI13817.1; Type=Erroneous gene model prediction; Sequence=CAI13818.1; Type=Erroneous gene model prediction;
Sequence=CAI13819.1; Type=Erroneous gene model prediction; Sequence=EAW86233.1; Type=Erroneous gene model prediction;
Secondary accessions: Q5SZ68 Q5SZ69 Q5SZ70 Q6IA40 Q6P7P0 Q7Z2S1 Q8WUF1 Q9H3I4
Alternative splicing: 2 isoforms:  Q9H8M7-1   Q9H8M7-2   

Explore the universe of human proteins at neXtProt for FAM188A: NX_Q9H8M7

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H8M7

  • FAM188A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_079224.1  
    ENSEMBL proteins: 
     ENSP00000277632   ENSP00000367275   ENSP00000367272   ENSP00000388661   ENSP00000389883  

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    Novus Biologicals FAM188A Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for FAM188A

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0031965nuclear membrane IDA--


    FAM188A for ontologies           About GeneDecksing



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

    FAM188A for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR011992 EF-hand-like_dom
     IPR025257 DUF4205

    Graphical View of Domain Structure for InterPro Entry Q9H8M7

    ProtoNet protein and cluster: Q9H8M7

    UniProtKB/Swiss-Prot: F188A_HUMAN, Q9H8M7
    Similarity: Belongs to the FAM188 family


    (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

    Function Summary:

         UniProtKB/Swiss-Prot: F188A_HUMAN, Q9H8M7
    Function: May have pro-apoptotic function. Overexpression significantly inhibits cell proliferation in several tumor
    cell lines

    miRNA
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    hsa-miR-1271 hsa-miR-200a hsa-miR-141 hsa-miR-199a-5p hsa-miR-582-5p hsa-miR-182 hsa-miR-199b-5p hsa-miR-96
    SwitchGear 3'UTR luciferase reporter plasmidFAM188A 3' UTR sequence
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM188A

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI--


    FAM188A for ontologies           About GeneDecksing



    (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 FAM188A

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for FAM188A (Q9H8M71, 2, 3 ENSP000002776324) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RPL8P629172, 3, ENSP000002625844MINT-64606 I2D: score=4 STRING: ENSP00000262584
    COPS5Q929051, ENSP000003505124EBI-724928,EBI-594661 STRING: ENSP00000350512
    UBCENSP000003448184STRING: ENSP00000344818
    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:0006915apoptotic process IEA--


    FAM188A for ontologies           About GeneDecksing



    (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 FAM188A
    Search CenterWatch for drugs/clinical trials and news about FAM188A / F188A 

    (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 FAM188A gene: 
    NM_024948.2  

    Unigene Cluster for FAM188A:

    Family with sequence similarity 188, member A
    Hs.158870  [show with all ESTs]
    Unigene Representative Sequence: BC067799
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000277632(uc001iod.1 uc001ioe.1) ENST00000477891 ENST00000378036
    ENST00000378033 ENST00000476912 ENST00000418767 ENST00000436829

    miRNA
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    hsa-miR-1271 hsa-miR-200a hsa-miR-141 hsa-miR-199a-5p hsa-miR-582-5p hsa-miR-182 hsa-miR-199b-5p hsa-miR-96
    SwitchGear 3'UTR luciferase reporter plasmidFAM188A 3' UTR sequence
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    Additional cDNA sequence: 

    AB014761.1 AF063600.1 AF176916.1 AK023459.1 AL833873.1 BC020605.1 BC061585.1 BC067799.1 
    CR457315.1 

    17 DOTS entries:

    DT.456288  DT.99986591  DT.100791982  DT.121287082  DT.121287095  DT.97843484  DT.121287107  DT.100791983 
    DT.121287061  DT.100761257  DT.121287059  DT.40274783  DT.95282269  DT.121287090  DT.95282272  DT.95282298 
    DT.97815542 

    24/207 AceView cDNA sequences (see all 207):

    NM_024948 AA251743 BP341804 BQ220141 BF510434 AI160238 AA233163 AI073518 
    CR604819 N42280 AI097077 AA256646 BC061585 AW473477 AB014761 BM977466 
    CR598815 AI378490 AK023459 AU280092 BX498517 CB144099 CR620518 AA135491 

    GeneLoc Exon Structure

    5/14 Alternative Splicing Database (ASD) splice patterns (SP) for FAM188A (see all 14)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^
    SP1:                                            -                 -                                                                                             
    SP2:                                            -                 -                                         -     -                                             
    SP3:                    -     -     -           -                 -                                                                                             
    SP4:                                            -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -           -   
    SP5:                                                              -                                                                                             

    ExUns: 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b
    SP1:                                          
    SP2:                                          
    SP3:                                          
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for FAM188A

    (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

    FAM188A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGAAGATCTG

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

    About this image
    See FAM188A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM188A

    SOURCE GeneReport for Unigene cluster: Hs.158870

    UniProtKB/Swiss-Prot: F188A_HUMAN, Q9H8M7
    Tissue specificity: Highly expressed in heart, skeletal muscle, and kidney, with weak expression in liver and brain

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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 eukaryotes.

    Orthologs for FAM188A gene from 8/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fam188a1 , 5 family with sequence similarity 188, member A1, 5 92.72(n)1
    95.95(a)1
      2 (9.27 cM)5
    669601  NM_024185.41  NP_077147.21 
     123472635 
    chicken
    (Gallus gallus)
    Aves FAM188A1 family with sequence similarity 188, member A 82.13(n)
    87.16(a)
      420526  XM_418629.3  XP_418629.1 
    lizard
    (Anolis carolinensis)
    Reptilia FAM188A6
    --
    84(a)
    1 ↔ 1
    6(18861345-18890417)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX732833.12   -- 77.92(n)    BX732833.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BI671503.12   -- 78.68(n)    BI671503.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG73321 CG7332 51.83(n)
    48.17(a)
      32885  NM_133110.2  NP_573338.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G436901 ubiquitin interaction motif-containing protein 48.55(n)
    36.48(a)
      840956  NM_103494.4  NP_175034.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g04218001 hypothetical protein 50.35(n)
    39.24(a)
      4335833  NM_001059321.1  NP_001052786.1 


    ENSEMBL Gene Tree for FAM188A (if available)
    TreeFam Gene Tree for FAM188A (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FAM188A gene
    FAM188B22  FAM188B2  

    FAM188A for paralogs           About GeneDecksing



    (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

    10/1464 NCBI SNPs in FAM188A are shown (see all 1464    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs583534181,2
    --15819727(+) GTGTAC/TGAAAG 1 -- ds50010--------
    rs1865744771,2
    --15819781(+) GAAGGC/TAATGT 1 -- ds50010--------
    rs768099141,2
    F,--15819835(+) TTACAC/TGTGGC 1 -- ds50011Minor allele frequency- T:0.05WA 118
    rs1502925291,2
    --15819848(+) TACACG/TTGGAG 1 -- ds50010--------
    rs1379480351,2
    --15819989(+) GTTCTC/TATGCT 1 -- ds50010--------
    rs801543111,2
    F,--15819996(+) TGCTTC/TTGGCT 1 -- ds50011Minor allele frequency- T:0.02NA 120
    rs1918825711,2
    --15820007(+) GGCTGA/CGTTAG 1 -- ds50010--------
    rs1810893471,2
    --15820100(+) AGGGTA/TATTGG 1 -- ds50010--------
    rs1433125811,2
    --15820225(+) ATAACA/GTAATA 1 -- ut310--------
    rs1855282321,2
    --15820276(+) TTATAA/TATATA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for FAM188A (15820169 - 15902519 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for FAM188A
         1 CNV: 4667
    Human Gene Mutation Database (HGMD): FAM188A

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FAM188A
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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.)
    About This Section

    FAM188A for disorders           About GeneDecksing

    OMIM gene information: 611649    OMIM disorders: --

    4 diseases for FAM188A:    About MalaCards
    hypertrophic cardiomyopathy    cardiomyopathy    rhinitis    lung cancer


    Export disorders for FAM188A 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 FAM188A gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with FAM188A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CARP is a novel caspase recruitment domain containing pro-apoptotic protein. (PubMed id 12054670)1, 2, 3 Liu B.... Hui R.T. (2002)
    2. Genome-wide mapping of modifier chromosomal loci for human hypertrophic cardiomyopathy. (PubMed id 17652099)1, 3 Daw E.W....Marian A.J. (2007)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    5. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    6. C10ORF97 is a novel tumor-suppressor gene of non-smal l-cell lung cancer and a functional variant of this gene increases the risk of non-small-cell lung cancer. (PubMed id 21499297)1 Shi Y....Hui R. (2011)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    9. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 80013 HGNC: 23578 AceView: C10orf97 Ensembl:ENSG00000148481 euGenes: HUgn80013
    ECgene: FAM188A H-InvDB: FAM188A

    (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 FAM188A 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 FAM188A gene:
    Search GeneIP for patents involving FAM188A

    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: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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