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

FAM124B Gene

protein-coding   GIFtS: 45
GCID: GC02M225243

family with sequence similarity 124B
  Search for FAM124B
in
MalaCards
our new
 Human Malady Compendium 
Biological research products
for FAM124B    

Aliases
for FAM124B gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Family With Sequence Similarity 124B1 2
FLJ227461
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


Summaries
for FAM124B gene

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

Genomic Views
for FAM124B 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences 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 plasmid: FAM124B promoter sequence
   Search SABiosciences Chromatin IP Primers for FAM124B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for FAM124B gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H5Z6

    • FAM124B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000374524   ENSP00000386895   ENSP00000243806  

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    Uscn Proteins for FAM124B


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    Uscn ELISAs and CLIAs for FAM124B

    Protein Domains /
    Families
    for FAM124B gene

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

    ProtoNet protein and cluster: Q9H5Z6

    1 Blocks protein family: IPB002110 Ankyrin repeat signature

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


    Function
    for FAM124B gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 2): FAM124B
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FAM124B
    4 QIAGEN miScript miRNA 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 plasmid: FAM124B 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for FAM124B

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM124B

    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19447967


    FAM124B for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for FAM124B gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FAM124B

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

    5/7 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

    Drugs & Compounds
    for FAM124B gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 FAM124B
    Search CenterWatch for drugs/clinical trials and news about FAM124B / F124B 

    Transcripts
    for FAM124B gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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 QIAGEN miScript miRNA 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 plasmid: FAM124B 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FAM124B (see all 4)
    OriGene shRNA RFP: FAM124B
    OriGene siRNA: FAM124B
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FAM124B
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FAM124B (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FAM124B (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    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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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM124B

    Additional cDNA sequence: 

    AK026399.1 AK075126.1 BC025754.1 

    4 DOTS entries:

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

    19 AceView cDNA sequences:

    AA352058 AI217699 AK075126 CR622310 BC025754 NM_024785 AK026399 BI766458 
    BX369888 BI766805 BG674089 BX356492 BX356493 BI819147 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

    Expression
    for FAM124B gene

    (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

    FAM124B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGACCTCTTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    FAM124B expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    PlacentaChorioallantoic PlacentaExtraembryonic AngioblastsEndothelium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 6 LifeMap Cells 
    NameCategory
    PureStem™ endothelial progenitor 30-MV2-12 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ endothelial Progenitor 30-SM2-3 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ endothelial progenitor 30-SM2-1 (Embryonic Progenitor Cell)Endothelium
    PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)Endothelium
    PureStem™ endothelial progenitor 30-MV2-14 (Embryonic Progenitor Cell)Endothelium
    Beating cell clusters (Spontaneous differen...)

    See FAM124B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM124B

    SOURCE GeneReport for Unigene cluster: Hs.147585
        SABiosciences Custom PCR Arrays for FAM124B
    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM124B

    Orthologs
    for FAM124B gene

    (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 FAM124B gene from 4/15 species (see all 15)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves FAM124B1 family with sequence similarity 124B 58.91(n)
    53.47(a)    		   771342  XM_001234633.2  XP_001234634.2 
    lizard
    (Anolis carolinensis)    		 Reptilia FAM124B6
    		 --
    		 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 55.05(n)
    48.16(a)    		   572460  XM_696179.4  XP_701271.4 


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

    Paralogs
    for FAM124B gene

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

    FAM124B for paralogs           About GeneDecksing



    Genomic Variants
    for FAM124B gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/493 NCBI SNPs in FAM124B are shown (see all 493)     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
    		--225242922(+) CACTTT/ATGCAA 2 -- int11Minor allele frequency- A:0.01WA 118
    rs1166454131,2
    		--225242925(+) TTTTGC/GAAGAT 2 -- int11Minor allele frequency- G:0.01WA 118
    rs1831060761,2
    		--225243026(+) TCTTAC/TGTAAC 2 -- int10--------
    rs1172423321,2
    		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,--225243436(+) GTTTAC/TTGAAT 2 -- ut311Minor allele frequency- T:0.50NA 2

    HapMap Linkage Disequilibrium report for FAM124B (225243415 - 225266802 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for FAM124B: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FAM124B
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    Disorders / Diseases
    for FAM124B gene

    (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.)
    About This Section
    		   --

    Publications
    for FAM124B gene

    (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 FAM124B gene integrated from 9 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. (2002)
    2. Shifted Transversal Design smart-pooling for high cov erage interactome mapping. (PubMed id 19447967)1 Xin X....Thierry-Mieg N. (2009)
    3. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    4. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)
    5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)

    External Searches for FAM124B gene

    (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)

    Genome Databases showing FAM124B gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 79843 HGNC: 26224 AceView: FLJ22746 Ensembl:ENSG00000124019 euGenes: HUgn79843
    ECgene: FAM124B H-InvDB: FAM124B

    Other Databases showing FAM124B gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing FAM124B gene

    (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 FAM124B Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for FAM124B gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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



    Products
    for FAM124B gene

    (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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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    von Willebrand factor
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