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

FAM124A Gene

protein-coding   GIFtS: 47
GCID: GC13P051796

Family With Sequence Similarity 124A

  Search for FAM124A
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 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NC_018924.2  NT_024524.14  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for FAM124A

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

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q86V42

  • FAM124A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FAM124A Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001229241.1  NP_659456.3  

    ENSEMBL proteins: 
     ENSP00000324625   ENSP00000280057  

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

    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, 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

    Phenotypes:
         1 GenomeRNAi human phenotype for FAM124A:
     Increased cell number in G2M,  

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for FAM124A 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for FAM124A

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    SwitchGear 3'UTR luciferase reporter plasmidFAM124A 3' UTR sequence
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    (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 FAM124A

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

    5/9 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 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 FAM124A (F124A)

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 FAM124A gene (2 alternative transcripts): 
    NM_001242312.1  NM_145019.3  

    Unigene Clusters for FAM124A:

    Family with sequence similarity 124A
    Hs.71913  [show with all ESTs], Hs.737490
    Unigene Representative Sequences: NM_001242312, NM_145019
    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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    8/29 QIAGEN miScript miRNA 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
    Products:
         
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    Clone
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FAM124A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM124A
    Sirion Biotech Customized lentivirus for stable overexpression of FAM124A 
                         Customized lentivirus expression plasmids for stable overexpression of FAM124A 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAM124A
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM124A

    Additional mRNA sequence: AK096364.1 

    5 DOTS entries:

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

    24/92 AceView cDNA sequences (see all 92):

    BF001835 BM931534 AI142125 D59503 BU186359 AI203198 BX098663 CB156709 
    AK096364 AW025774 BQ019601 AA999894 BC051771 AI613106 AK055269 NM_145019 
    BM684001 T94390 AI198118 BF339192 AA148931 BE046996 AI224514 AA366478 

    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™, 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

    FAM124A expression in normal human tissues (normalized intensities)      FAM124A embryonic expression: see
    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 
     5/4 selected tissues (see all 4) fully expand
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Inner Cell Mass (Early Embryonic Tissues)
             Line H9 (WA09)
     
     Kidney (Urinary System)
     
     Uterus (Reproductive System)

    See FAM124A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM124A

    SOURCE GeneReport for Unigene clusters: Hs.71913 Hs.737490
        SABiosciences 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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for FAM124A gene from 4/11 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 79.04(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 61.45(n)
    59.2(a)
      770395  XM_001233731.2  XP_001233732.2 
    lizard
    (Anolis carolinensis)
    Reptilia FAM124A6
    family with sequence similarity 124A
    48(a)
    1 ↔ 1
    1(140106135-140115802)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5566831 protein FAM124A-like 54.27(n)
    50.94(a)
      556683  XM_001922340.3  XP_001922375.3 


    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)
    About This Section
    Paralogs for FAM124A gene
    FAM124B2  
    1 SIMAP similar gene for FAM124A using alignment to 1 protein entry:     F124A_HUMAN:
    FAM124B

    FAM124A 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

    10/1181 SNPs in FAM124A are shown (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

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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

    FAM124A for disorders           About MalaCards

    FAM124A for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for FAM124A gene integrated from 9 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. (2010)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (2003)
    4. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)
    5. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)2 Dunham A.... Ross M.T. (2004)
    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. 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)
    8. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)

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

    (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 FAM124A 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 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, 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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