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    FAM124B family with sequence similarity 124B [ Homo sapiens (human) ]

    Gene ID: 79843, updated on 5-May-2013
    Official Symbol
    FAM124Bprovided by HGNC
    Official Full Name
    family with sequence similarity 124Bprovided by HGNC
    Primary source
    HGNC:26224
    See related
    Ensembl:ENSG00000124019; HPRD:08663; Vega:OTTHUMG00000133168
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Location :
    2q36.2
    Sequence :
    Chromosome: 2; NC_000002.11 (225243415..225266711, complement)
    See FAM124B in Epigenomics, MapViewer

    Chromosome 2 - NC_000002.11Genomic Context describing neighboring genes Neighboring gene ubiquitin specific peptidase 21 pseudogene Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene Neighboring gene ankyrin repeat domain 49 pseudogene Neighboring gene cullin 3 Neighboring gene dedicator of cytokinesis 10 Neighboring gene microRNA 4439

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Shifted Transversal Design smart-pooling for high coverage interactome mapping. Xin X, et al. Genome Res, 2009 Jul. PMID 19447967.
    2. An empirical framework for binary interactome mapping. Venkatesan K, et al. Nat Methods, 2009 Jan. PMID 19060904.
    3. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965.
    4. Towards a proteome-scale map of the human protein-protein interaction network. Rual JF, et al. Nature, 2005 Oct 20. PMID 16189514.
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932.

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Submit: New GeneRIF Correction

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    Q9H5Z6 Q15834 CCDC85B    HPRD  PubMed  
    Q9H5Z6 O95967 EFEMP2    HPRD  PubMed  
    Q9H5Z6 Q99750 MDFI    HPRD  PubMed  
    Q9H5Z6 O94972 TRIM37    HPRD  PubMed  
    Q9H5Z6 Q15654 TRIP6    HPRD  PubMed  
    BioGRID:122934 BioGRID:116198 CCDC85B    BioGRID  PubMed Two-hybrid 
    BioGRID:122934 BioGRID:119026 EFEMP2    BioGRID  PubMed Two-hybrid 
    BioGRID:122934 BioGRID:110353 MDFI    BioGRID  PubMed Two-hybrid 
    BioGRID:122934 BioGRID:110678 TRIM37    BioGRID  PubMed Two-hybrid 
    BioGRID:122934 BioGRID:113056 TRIP6    BioGRID  PubMed Two-hybrid 

    Genotypes

    Homology

    Clone Names

    • FLJ22746

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Preferred Names
    protein FAM124B
    Names
    protein FAM124B

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001122779.1 → NP_001116251.1  protein FAM124B isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AK026399, BC025754
      Consensus CDS
      CCDS46527.1
      UniProtKB/Swiss-Prot
      Q9H5Z6
      Related
      ENSP00000386895, OTTHUMP00000203759, ENST00000409685, OTTHUMT00000330873

    2. NM_024785.2 → NP_079061.2  protein FAM124B isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate coding exon compared to variant 1. This alternate exon has an in-frame stop codon, so variant 2 encodes an isoform (b) that is shorter and that has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      BC025754
      Consensus CDS
      CCDS2461.1
      UniProtKB/Swiss-Prot
      Q9H5Z6
      Related
      ENSP00000374524, OTTHUMP00000203758, ENST00000389874, OTTHUMT00000330872
      Conserved Domains (1) summary
      pfam13900
      Location:248 – 272
      Blast Score: 84
      GVQW; Putative binding domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000002.11 Reference GRCh37.p10 Primary Assembly

      Range
      225243415..225266711, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000134.1 Alternate HuRef

      Range
      217095545..217119523, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018913.1 Alternate CHM1_1.0

      Range
      224621073..224644361, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01023770.1 (11061..21941) None
    genomic ABBA01023771.1 None
    genomic ABBA01023772.1 (4118..8826) None
    genomic AC008072.3 AAY14842.1
    genomic AMYH01011525.1 (339319..362607) None
    genomic CH471063.1 EAW70826.1
      EAW70827.1
    mRNA AK026399.1 BAB15471.1
    mRNA AK075126.1 None
    mRNA BC025754.1 AAH25754.1
    other-genetic HQ447160.1 ADQ31647.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H5Z6.3 GenPept UniProtKB/Swiss-Prot:Q9H5Z6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • GAP
        GAP Links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • Nucleotide
        Link to related Nucleotide entry
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).

      Links to other resources

      General information

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