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FAM124B Gene

protein-coding   GIFtS: 47
GCID: GC02M225243

Family With Sequence Similarity 124B

  Search for FAM124B
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 124B1 2
Protein FAM124B2

External Ids:    HGNC: 262241   Entrez Gene: 798432   Ensembl: ENSG000001240197   UniProtKB: Q9H5Z63   

Export aliases for FAM124B gene to outside databases

Previous GC identifers: GC02M224951 GC02M224806 GC02M217095


(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 FAM124B Gene:
FAM124B (family with sequence similarity 124B) is a protein-coding gene. An important paralog of this gene is FAM124A.


(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 at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the FAM124B gene promoter:
         c-Fos   AP-1   MyoD   STAT5A   Ik-3   LCR-F1   HEN1   COMP1   c-Jun   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM124B promoter sequence
   Search Chromatin IP Primers for FAM124B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM124B


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

Entrez Gene cytogenetic band: 2q36.2   Ensembl cytogenetic band:  2q36.2   HGNC cytogenetic band: 2q36.2

FAM124B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM124B gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M225243:  view genomic region     (about GC identifiers)

Start:
225,243,415 bp from pter      End:
225,266,802 bp from pter
Size:
23,388 bases      Orientation:
minus strand

(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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: F124B_HUMAN, Q9H5Z6 (See protein sequence)
Recommended Name: Protein FAM124B  
Size: 455 amino acids; 50961 Da
Sequence caution: Sequence=BAB15471.1; Type=Frameshift; Positions=264;
Secondary accessions: A6NNC7 Q8NBZ4 Q8TAV7
Alternative splicing: 2 isoforms:  Q9H5Z6-1   Q9H5Z6-2   

Explore the universe of human proteins at neXtProt for FAM124B: NX_Q9H5Z6

Explore proteomics data for FAM124B at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FAM124B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001116251.1  NP_079061.2  

    ENSEMBL proteins: 
     ENSP00000374524   ENSP00000386895   ENSP00000243806  

    FAM124B Human Recombinant Protein Products:

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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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    ProtoNet protein and cluster: Q9H5Z6

    1 Blocks protein domain: IPB002110 Ankyrin repeat signature

    UniProtKB/Swiss-Prot: F124B_HUMAN, Q9H5Z6
    Similarity: Belongs to the FAM124 family


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16189514
         
    Find genes that share ontologies with FAM124B           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for FAM124B:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FAM124B
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    miRTarBase miRNAs that target FAM124B:
    hsa-mir-335-5p (MIRT017592)

    Block miRNA regulation of human, mouse, rat FAM124B using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate FAM124B:
    hsa-miR-1207-3p hsa-miR-556-5p hsa-miR-548aa hsa-miR-31*
    SwitchGear 3'UTR luciferase reporter plasmidFAM124B 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FAM124B

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    (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
    nucleus3
    cytosol2
    peroxisome1

    (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 FAM124B
    Interactions:

        Search GeneGlobe Interaction Network for FAM124B

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    Selected Interacting proteins for FAM124B (Q9H5Z61, 2, 3 ENSP000003868954) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCDC85BQ158342, 3, ENSP000003116954MINT-68305 I2D: score=5 STRING: ENSP00000311695
    TRIM37O949722, 3, ENSP000002622944MINT-66182 I2D: score=5 STRING: ENSP00000262294
    TRIP6Q156542, 3, ENSP000002004574MINT-66271 I2D: score=5 STRING: ENSP00000200457
    EFEMP2O959672, 3, ENSP000003099534MINT-67347 I2D: score=4 STRING: ENSP00000309953
    MDFIQ997501, 2, 3, ENSP000002303214EBI-741626,EBI-724076 MINT-66231 I2D: score=5 STRING: ENSP00000230321
    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 FAM124B (F124B)



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for FAM124B gene (2 alternative transcripts): 
    NM_001122779.1  NM_024785.2  

    Unigene Cluster for FAM124B:

    Family with sequence similarity 124B
    Hs.147585  [show with all ESTs]
    Unigene Representative Sequence: NM_024785
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000389874(uc002vnw.3) ENST00000409685(uc002vnx.3) ENST00000243806

    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate FAM124B:
    hsa-miR-1207-3p hsa-miR-556-5p hsa-miR-548aa hsa-miR-31*
    SwitchGear 3'UTR luciferase reporter plasmidFAM124B 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for FAM124B
    Predesigned siRNA for gene silencing in human, mouse, rat FAM124B
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): FAM124B (NM_024785)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FAM124B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM124B
    Primer
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    OriGene qPCR primer pairs and template standards for FAM124B
    OriGene qSTAR qPCR primer pairs in human, mouse for FAM124B
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FAM124B
      QuantiTect SYBR Green Assays in human, mouse, rat FAM124B
      QuantiFast Probe-based Assays in human, mouse, rat FAM124B

    Additional mRNA sequence: 

    AK026399.1 AK075126.1 BC025754.1 

    4 DOTS entries:

    DT.100698490  DT.100743812  DT.40212647  DT.100705245 

    19 AceView cDNA sequences:

    AA352058 AI217699 CR622310 BC025754 AK075126 NM_024785 BI766458 BI819147 
    BG674089 BI766805 BX356492 BX369888 BX356493 AK026399 BX090493 BX474827 
    CF993906 CD697376 BX369887 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for FAM124B    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3
    SP1:                        
    SP2:              -         


    ECgene alternative splicing isoforms for FAM124B

    (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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    FAM124B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGACCTCTTT
    FAM124B Expression
    About this image

    FAM124B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FAM124B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.147585
        Custom PCR Arrays for FAM124B
    Primer
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    OriGene qPCR primer pairs and template standards for FAM124B
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    QuantiFast Probe-based Assays in human, mouse, rat FAM124B
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM124B

    (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 FAM124B gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fam124b1 , 5 family with sequence similarity 124, member B1, 5 75.38(n)1
    65.45(a)1
      1 (41.19 cM)5
    2411281  NM_173425.31  NP_775601.11 
     801987065 
    chicken
    (Gallus gallus)
    Aves FAM124B1 family with sequence similarity 124B 64.41(n)
    57.82(a)
      771342  XM_001234633.3  XP_001234634.2 
    lizard
    (Anolis carolinensis)
    Reptilia FAM124B6
    family with sequence similarity 124B
    44(a)
    1 ↔ 1
    3(24856986-24859592)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.199982 Transcribed sequence with weak similarity to protein more 71.82(n)    BX759629.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5724601 protein FAM124B-like 54.9(n)
    48.18(a)
      572460  XM_696179.5  XP_701271.5 


    ENSEMBL Gene Tree for FAM124B (if available)
    TreeFam Gene Tree for FAM124B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FAM124B gene
    FAM124A2  
    1 SIMAP similar gene for FAM124B using alignment to 1 protein entry:     F124B_HUMAN:
    FAM124A

    Find genes that share paralogs with FAM124B           About GenesLikeMe



    (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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    Selected SNPs for FAM124B (see all 576)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1396572111,2
    --225242917(+) AGACTC/TACTTT 2 -- int10--------
    rs1148680401,2
    F--225242922(+) CACTTT/ATGCAA 2 -- int11Minor allele frequency- A:0.01WA 118
    rs1166454131,2
    F--225242925(+) TTTTGC/GAAGAT 2 -- int11Minor allele frequency- G:0.01WA 118
    rs1831060761,2
    --225243026(+) TCTTAC/TGTAAC 2 -- int10--------
    rs1172423321,2
    C,F--225243054(+) AGTTCG/ATGGAA 2 -- int11Minor allele frequency- A:0.03EA 120
    rs168658981,2
    C,F--225243096(+) GGCCTC/TGGGAT 2 -- int112Minor allele frequency- N:0.00NA EA WA 584
    rs1443002161,2
    --225243119(+) GTGTAC/TAGACA 2 -- int10--------
    rs168658991,2
    C,F,H--225243137(+) AAAATT/ACAGCA 2 -- int18Minor allele frequency- A:0.03NA NS EA 682
    rs750584251,2
    F--225243152(+) GGCAAC/TGAGAA 2 -- int11Minor allele frequency- T:0.07WA 118
    rs1126293661,2
    C,F--225243436(+) GTTTAC/TTGAAT 2 -- ut311Minor allele frequency- T:0.50NA 2

    HapMap Linkage Disequilibrium report for FAM124B (225243415 - 225266802 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for FAM124B:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv875903CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FAM124B
    DNA2.0 Custom Variant and Variant Library Synthesis for FAM124B

    (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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    Find genes that share disorders with FAM124B           About GenesLikeMe

    Genetic Association Database (GAD): FAM124B

    Export disorders for FAM124B 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 FAM124B gene integrated from 10 sources:
    (articles sorted by number of sources associating them with FAM124B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    2. Identification and characterization of FAM124B as a novel component of a CHD7 and CHD8 containing complex. (PubMed id 23285124)1 Batsukh T....Pauli S. (PLoS ONE 2012)
    3. An empirical framework for binary interactome mapping. (PubMed id 19060904)1 Venkatesan K....Vidal M. (Nat. Methods 2009)
    4. Shifted Transversal Design smart-pooling for high coverage interactome mapping. (PubMed id 19447967)1 Xin X....Thierry-Mieg N. (Genome Res. 2009)
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
    6. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (Nature 2005)
    7. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
    8. 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)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (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: 79843 HGNC: 26224 AceView: FLJ22746 Ensembl:ENSG00000124019 euGenes: HUgn79843
    ECgene: FAM124B H-InvDB: FAM124B

    (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 FAM124B 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 FAM124B gene:
    Search GeneIP for patents involving FAM124B

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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