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

FAM188B Gene

protein-coding   GIFtS: 43
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)
About This Section

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

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007819.17  NC_018918.2  NT_079592.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for FAM188B
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q4G0A6

  • FAM188B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FAM188B Protein Expression
    REFSEQ proteins: NP_115598.2  
    ENSEMBL proteins: 
     ENSP00000265299  

    Human Recombinant Protein Products for FAM188B: 
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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:
     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,
    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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for FAM188B 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for FAM188B

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FAM188B 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM188B


    (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 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 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 FAM188B (F188B)

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 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)

    miRNA
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    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FAM188B
    Clone
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    OriGene ORF clones in mouse, rat for FAM188B
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FAM188B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM188B
    Sirion Biotech Customized lentivirus for stable overexpression of FAM188B 
                         Customized lentivirus expression plasmids for stable overexpression of FAM188B 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for FAM188B
    SABiosciences RT2 qPCR Primer Assay in human, mouse / rat FAM188B
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAM188B
      QIAGEN 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 

    24/170 AceView cDNA sequences (see all 170):

    AI650766 BM972025 AI301264 AA442346 BF221501 BU160706 F01784 CA444425 
    AI131260 CF127609 AK026027 CF125241 BM972420 BQ722411 AW084658 AI654718 
    BQ029558 AW172262 BU172312 AW166482 AA487680 BQ019050 BQ015743 BE220148 

    GeneLoc Exon Structure

    5/6 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™, 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

    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


    See FAM188B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM188B

    SOURCE GeneReport for Unigene cluster: Hs.660192
        SABiosciences Custom PCR Arrays for FAM188B
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for FAM188B
    SABiosciences RT2 qPCR Primer Assay in human, mouse / rat FAM188B
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM188B
    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for FAM188B gene from 6/14 species (see all 14)    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 80.89(n)1
    76.15(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 71.9(n)
    73.56(a)
      420383  XM_418488.3  XP_418488.3 
    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 LOC1003325651 protein FAM188B-like 60(n)
    61.07(a)
      100332565  XM_002663403.2  XP_002663449.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG141426
    --
    21(a)
    1 → many
    3L(11166614-11169992)


    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)
    About This Section
    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) 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

    7 SNPs in FAM188B are shown    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0622484
    ----see VAR_0622482 C Y mis40--------
    VAR_0392134
    ----see VAR_0392132 S L mis40--------
    VAR_0392164
    ----see VAR_0392162 A V mis40--------
    VAR_0392144
    ----see VAR_0392142 T M mis40--------
    VAR_0392174
    ----see VAR_0392172 M V mis40--------
    VAR_0392154
    ----see VAR_0392152 R K mis40--------
    VAR_0392124
    ----see VAR_0392122 D A mis40--------

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/16 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

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing FAM188B
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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
    2 diseases 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)
    About This Section

    PubMed articles for FAM188B gene integrated from 9 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. (2012)
    2. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (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. (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. (2004)
    7. The DNA sequence of human chromosome 7. (PubMed id 12853948)2 Hillier L.W.... Wilson R.K. (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. (2002)
    9. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 84182 HGNC: 21916 AceView: INMTandFLJ22374 Ensembl:ENSG00000106125 euGenes: HUgn84182
    ECgene: FAM188B H-InvDB: FAM188B

    (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 FAM188B 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 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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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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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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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