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FAM124A Gene

protein-coding   GIFtS: 47
GCID: GC13P051796

Family With Sequence Similarity 124A

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(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 124A1 2
Protein FAM124A2

External Ids:    HGNC: 264131   Entrez Gene: 2201082   Ensembl: ENSG000001505107   UniProtKB: Q86V423   

Export aliases for FAM124A gene to outside databases

Previous GC identifers: GC13P050695 GC13P032585


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


(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_000013.10  NC_018924.2  NT_024524.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the FAM124A gene promoter:
         AML1a   Pbx1a   NF-AT   NF-AT4   NF-AT2   FOXJ2 (long isoform)   NF-AT3   FOXJ2   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM124A promoter sequence
   Search Chromatin IP Primers for FAM124A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM124A


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

Entrez Gene cytogenetic band: 13q14.3   Ensembl cytogenetic band:  13q14.3   HGNC cytogenetic band: 13q14.3

FAM124A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM124A gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P051796:  view genomic region     (about GC identifiers)

Start:
51,796,470 bp from pter      End:
51,858,377 bp from pter
Size:
61,908 bases      Orientation:
plus 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: F124A_HUMAN, Q86V42 (See protein sequence)
Recommended Name: Protein FAM124A  
Size: 546 amino acids; 60104 Da
Sequence caution: Sequence=AAH34497.1; Type=Frameshift; Positions=286;
Secondary accessions: A2A324 Q8N8P9 Q8NE66 Q96NJ9
Alternative splicing: 3 isoforms:  Q86V42-1   Q86V42-2   Q86V42-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FAM124A: NX_Q86V42

Explore proteomics data for FAM124A at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FAM124A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001229241.1  NP_659456.3  

    ENSEMBL proteins: 
     ENSP00000324625   ENSP00000280057  

    FAM124A Human Recombinant Protein Products:

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    antibodies-online proteins for FAM124A (2 products) 

     
    antibodies-online peptides for FAM124A

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    antibodies-online kits for FAM124A (2 products) 


    (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: Q86V42

    UniProtKB/Swiss-Prot: F124A_HUMAN, Q86V42
    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, 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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    Phenotypes:
         1 GenomeRNAi human phenotype for FAM124A:
     Increased cell number in G2M,  

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for FAM124A

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate FAM124A (see all 29):
    hsa-miR-485-5p hsa-miR-30c hsa-miR-579 hsa-miR-3607-3p hsa-miR-607 hsa-miR-448 hsa-miR-29a hsa-miR-29c
    SwitchGear 3'UTR luciferase reporter plasmidFAM124A 3' UTR sequence
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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

    (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 FAM124A
    Interactions:

        Search GeneGlobe Interaction Network for FAM124A

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

    Selected Interacting proteins for FAM124A (Q86V422, 3 ENSP000002800574) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RBM10P981753, ENSP000003668294I2D: score=2 STRING: ENSP00000366829
    NKAPQ8N5F73, ENSP000003604644I2D: score=2 STRING: ENSP00000360464
    ZNF165P499103I2D: score=2 
    BEND7Q8N7W23I2D: score=1 
    CCDC33Q8N5R63I2D: 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 FAM124A (F124A)



    (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 FAM124A gene (2 alternative transcripts): 
    NM_001242312.1  NM_145019.3  

    Unigene Cluster for FAM124A:

    Family with sequence similarity 124A
    Hs.71913  [show with all ESTs]
    Unigene Representative Sequence: NM_001242312
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000322475(uc001vfe.3 uc001vff.2 uc001vfg.2) ENST00000280057
    ENST00000497449
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate FAM124A (see all 29):
    hsa-miR-485-5p hsa-miR-30c hsa-miR-579 hsa-miR-3607-3p hsa-miR-607 hsa-miR-448 hsa-miR-29a hsa-miR-29c
    SwitchGear 3'UTR luciferase reporter plasmidFAM124A 3' UTR sequence
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM124A
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat FAM124A
      QuantiFast Probe-based Assays in human, mouse, rat FAM124A

    Additional mRNA sequence: 

    AK055269.1 AK056643.1 AY358177.1 BC034497.2 BC051771.1 

    5 DOTS entries:

    DT.75192811  DT.210791  DT.110953  DT.100019354  DT.311440 

    Selected AceView cDNA sequences (see all 92):

    BQ019601 AA999894 BC051771 D59503 BM931534 AI142125 BF001835 NM_145019 
    AI613106 AK055269 CB156709 BM684001 AI203198 AK096364 AW025774 BX098663 
    BU186359 AI968481 BU181920 AI224514 AA122283 BV188419 BM546404 BE252178 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for FAM124A    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b
    SP1:                          -               
    SP2:        -                 -               
    SP3:                                          


    ECgene alternative splicing isoforms for FAM124A

    (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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    FAM124A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCCACCATT
    FAM124A Expression
    About this image


    FAM124A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Kidney (Urinary System)
    FAM124A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FAM124A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.71913
        Custom PCR Arrays for FAM124A
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM124A

    (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 FAM124A gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fam124a1 , 5 family with sequence similarity 124, member A1, 5 79.23(n)1
    74.63(a)1
      14 (33.23 cM)5
    6290591  NM_001243857.11  NP_001230786.11 
     625557375 
    chicken
    (Gallus gallus)
    Aves FAM124A1 family with sequence similarity 124A 63.69(n)
    62.13(a)
      770395  XM_001233731.3  XP_001233732.3 
    lizard
    (Anolis carolinensis)
    Reptilia FAM124A6
    family with sequence similarity 124A
    47(a)
    1 ↔ 1
    1(140106135-140115802)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia fam124a1 family with sequence similarity 124A 60.03(n)
    57.77(a)
      448424  NM_001004978.1  NP_001004978.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5566831 protein FAM124A-like 56.03(n)
    52.26(a)
      556683  XM_001922340.4  XP_001922375.4 


    ENSEMBL Gene Tree for FAM124A (if available)
    TreeFam Gene Tree for FAM124A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FAM124A gene
    FAM124B2  
    1 SIMAP similar gene for FAM124A using alignment to 1 protein entry:     F124A_HUMAN:
    FAM124B

    Find genes that share paralogs with FAM124A           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 FAM124A (see all 1181)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1386834891,2
    --32732848(+) TGACAA/CTTTTC 2 -- us2k10--------
    rs49429741,2
    C,F,H--51794555(+) CACTTC/GAAGGT 2 -- us2k1 tfbs324Minor allele frequency- G:0.05NS EA WA NA CSA 2275
    rs1143536251,2
    F--51794558(+) TTGAAG/AGTTCT 2 -- us2k11Minor allele frequency- A:0.02WA 118
    rs1911795721,2
    C--51794594(+) TTATAC/TCCCGC 2 -- us2k10--------
    rs1164667711,2
    F--51794598(+) ACCCCG/ACCCTC 2 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1156957001,2
    C,F--51794628(+) CAATGC/GCTCAT 2 -- us2k11Minor allele frequency- G:0.04WA 118
    rs1140969711,2
    C,F--51794633(+) CCTCAT/CGCCTA 2 -- us2k11Minor allele frequency- C:0.04WA 118
    rs1493518461,2
    C--51794661(+) GAGGCC/TGAGGC 2 -- us2k10--------
    rs1829777341,2
    C--51794694(+) AGTTCA/GAGACC 2 -- us2k10--------
    rs1883825131,2
    --51794713(+) CAACAC/TATTTT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for FAM124A (51796470 - 51858377 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for FAM124A:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2747418CNV Deletion23290073
    nsv832611CNV Loss17160897
    nsv832610CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FAM124A
    DNA2.0 Custom Variant and Variant Library Synthesis for FAM124A

    (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 FAM124A           About GenesLikeMe

    Genetic Association Database (GAD): FAM124A
    Human Genome Epidemiology (HuGE) Navigator: FAM124A (1 document)

    Export disorders for FAM124A 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 FAM124A gene integrated from 10 sources:
    (articles sorted by number of sources associating them with FAM124A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 3 Clark H.F.... Gray A.M. (Genome Res. 2003)
    4. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)
    5. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (Nature 2005)
    6. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)2 Dunham A.... Ross M.T. (Nature 2004)
    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. (Genome Res. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    9. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)

    (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: 220108 HGNC: 26413 AceView: FLJ30707 Ensembl:ENSG00000150510 euGenes: HUgn220108
    ECgene: FAM124A H-InvDB: FAM124A

    (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 FAM124A 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 FAM124A gene:
    Search GeneIP for patents involving FAM124A

    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, eBioscience, antibodies-online, 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 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 , 7 Oct 2014

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