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FAM188B Gene

protein-coding   GIFtS: 45
GCID: GC07P030813

Family With Sequence Similarity 188, Member B

(Previous name: chromosome 7 open reading frame 67)
(Previous symbol: C7orf67)
  See related disease
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 188, Member B1 2
C7orf671 2 3
Chromosome 7 Open Reading Frame 671
Protein FAM188B2

External Ids:    HGNC: 219161   Entrez Gene: 841822   Ensembl: ENSG000001061257   UniProtKB: Q4G0A63   

Export aliases for FAM188B gene to outside databases

Previous GC identifers: GC07P030779 GC07P030812


(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 FAM188B Gene:
FAM188B (family with sequence similarity 188, member B) is a protein-coding gene. Diseases associated with FAM188B include nephrolithiasis. An important paralog of this gene is FAM188B2.

Gene Wiki entry for FAM188B (C7orf67) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NC_018918.2  NT_007819.18  
Regulatory elements:
   Search for regulatory transcription factor binding sites for FAM188B
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for FAM188B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM188B


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

Entrez Gene cytogenetic band: 7p14.3   Ensembl cytogenetic band:  7p14.3   HGNC cytogenetic band: 7p14.3

FAM188B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM188B gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P030813:  view genomic region     (about GC identifiers)

Start:
30,811,033 bp from pter      End:
30,932,002 bp from pter
Size:
120,970 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 30,860,569-30,981,508     

(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: F188B_HUMAN, Q4G0A6 (See protein sequence)
Recommended Name: Protein FAM188B  
Size: 757 amino acids; 84372 Da
Sequence caution: Sequence=AAQ10898.1; Type=Frameshift; Positions=617; Sequence=BAB15327.1; Type=Miscellaneous
discrepancy; Note=Contaminating sequence. Potential poly-A sequence;
Secondary accessions: Q71AZ7 Q9H6D2

Explore the universe of human proteins at neXtProt for FAM188B: NX_Q4G0A6

Explore proteomics data for FAM188B at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FAM188B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_115598.2  
    ENSEMBL proteins: 
     ENSP00000265299  

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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:
     IPR025257 DUF4205

    Graphical View of Domain Structure for InterPro Entry Q4G0A6

    ProtoNet protein and cluster: Q4G0A6

    UniProtKB/Swiss-Prot: F188B_HUMAN, Q4G0A6
    Similarity: Belongs to the FAM188 family


    FAM188B 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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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FAM188B
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FAM188B
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FAM188B

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    miRTarBase miRNAs that target FAM188B:
    hsa-mir-484 (MIRT041687)

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    Predesigned siRNA for gene silencing in human, mouse, rat FAM188B

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM188B


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    extracellular1
    mitochondrion1

    (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 FAM188B
    Interactions:

        Search GeneGlobe Interaction Network for FAM188B

    1 Interacting protein for FAM188B (Q4G0A63) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAEP622583I2D: score=1 
    About this table

    (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 FAM188B (F188B)



    (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 FAM188B gene: 
    NM_032222.2  

    Unigene Cluster for FAM188B:

    Family with sequence similarity 188, member B
    Hs.660192  [show with all ESTs]
    Unigene Representative Sequence: NR_037598
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265299(uc003tbt.3) ENST00000494187 ENST00000409881(uc003tbu.3)

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM188B
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      QuantiTect SYBR Green Assays in human, mouse, rat FAM188B
      QuantiFast Probe-based Assays in human, mouse, rat FAM188B

    Additional mRNA sequence: 

    AF538962.1 AK090826.1 BC043210.1 BC098569.1 NR_037598.1 

    4 DOTS entries:

    DT.100000070  DT.97797861  DT.101973502  DT.100810863 

    Selected AceView cDNA sequences (see all 170):

    BM993237 BE671856 AA487680 AI301264 F01784 AI654718 BM972420 AA442346 
    BF221501 BU743187 CA444425 AI650766 AW084658 BQ019050 CF127609 BQ722411 
    AW304891 AW172262 AW166482 BE220148 CF125241 BQ015743 BU172312 BQ029558 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for FAM188B (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for FAM188B

    (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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    FAM188B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGGGCCCAC
    FAM188B Expression
    About this image

    FAM188B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FAM188B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.660192
        Custom PCR Arrays for FAM188B
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM188B

    (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 FAM188B gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fam188b1 , 5 family with sequence similarity 188, member B1, 5 80.8(n)1
    76.29(a)1
      6 (27.38 cM)5
    3303231  NM_001142781.11  NP_001136253.11 
     552033835 
    chicken
    (Gallus gallus)
    Aves FAM188B1 family with sequence similarity 188, member B 61.72(n)
    57.01(a)
      420383  XM_418488.4  XP_418488.4 
    lizard
    (Anolis carolinensis)
    Reptilia FAM188B6
    family with sequence similarity 188, member B
    47(a)
    1 ↔ 1
    6(1766585-1838823)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.145052 Xenopus laevis transcribed sequence with weak similarity more 74.37(n)    BJ068028.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-30h22.111 si:dkey-30h22.11 55.59(n)
    53.56(a)
      100537560  XM_002663403.3  XP_002663449.3 


    ENSEMBL Gene Tree for FAM188B (if available)
    TreeFam Gene Tree for FAM188B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FAM188B gene
    FAM188B22  FAM188A2  

    FAM188B 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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    7 SNPs for FAM188B    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs349708331,2,4
    ----see VAR_0622482 mis40--------
    rs171594531,2,4
    ----see VAR_0392132 mis40--------
    rs126721191,2,4
    ----see VAR_0392162 mis40--------
    rs127010341,2,4
    ----see VAR_0392142 mis40--------
    rs102160631,2,4
    ----see VAR_0392172 mis40--------
    rs358974811,2,4
    ----see VAR_0392152 mis40--------
    rs343572721,2,4
    ----see VAR_0392122 mis40--------

    HapMap Linkage Disequilibrium report for FAM188B (30811033 - 30932002 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for FAM188B (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv436557CNV Deletion17901297
    esv2678492CNV Deletion23128226
    esv2734203CNV Deletion23290073
    esv993279CNV Deletion20482838
    esv2678752CNV Deletion23128226
    esv2390406CNV Deletion18987734
    esv2734204CNV Deletion23290073
    esv5109CNV Deletion18987735
    esv269741CNV Insertion20981092
    nsv830939CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FAM188B
    DNA2.0 Custom Variant and Variant Library Synthesis for FAM188B

    (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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    1 disease for FAM188B:    
    About MalaCards
    nephrolithiasis

    1 disease from the University of Copenhagen DISEASES database for FAM188B:
    Nephrolithiasis

    FAM188B for disorders           About GeneDecksing

    Genetic Association Database (GAD): FAM188B
    Human Genome Epidemiology (HuGE) Navigator: FAM188B (4 documents)

    Export disorders for FAM188B 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)
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    PubMed articles for FAM188B gene integrated from 10 sources:
    (articles sorted by number of sources associating them with FAM188B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1. (PubMed id 22396660)1, 4 Urabe Y....Matsuda K. (PLoS Genet. 2012)
    2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (Am. J. Hum. Genet. 2009)
    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. (Genome Res. 2006)
    6. 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. (Genome Res. 2004)
    7. The DNA sequence of human chromosome 7. (PubMed id 12853948)2 Hillier L.W.... Wilson R.K. (Nature 2003)
    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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    9. (PubMed id )2 

    (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: 84182 HGNC: 21916 AceView: INMTandFLJ22374 Ensembl:ENSG00000106125 euGenes: HUgn84182
    ECgene: FAM188B H-InvDB: FAM188B

    (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 FAM188B 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 FAM188B gene:
    Search GeneIP for patents involving FAM188B

    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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