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

    Gene ID: 79843, updated on 28-Oct-2024

    Summary

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    Official Symbol
    FAM124Bprovided by HGNC
    Official Full Name
    family with sequence similarity 124 member Bprovided by HGNC
    Primary source
    HGNC:HGNC:26224
    See related
    Ensembl:ENSG00000124019 MIM:618403; AllianceGenome:HGNC:26224
    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
    Summary
    Located in mitochondrion and nucleoplasm. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in placenta (RPKM 4.1), fat (RPKM 1.7) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM124B in Genome Data Viewer
    Location:
    2q36.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (224378698..224402107, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (224861847..224885253, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (225243415..225266824, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene Neighboring gene uncharacterized LOC124907992 Neighboring gene Sharpr-MPRA regulatory region 15583 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:225297524-225298143 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:225298144-225298762 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12380 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:225349417-225350616 Neighboring gene cullin 3 Neighboring gene ANKRD49 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12381 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12382 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12383 Neighboring gene uncharacterized LOC105373909

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Identification and characterization of FAM124B as a novel component of a CHD7 and CHD8 containing complex. Batsukh T, et al. PLoS One, 2012. PMID 23285124, Free PMC Article
    2. FBXL13 directs the proteolysis of CEP192 to regulate centrosome homeostasis and cell migration. Fung E, et al. EMBO Rep, 2018 Mar. PMID 29348145, Free PMC Article
    3. Network-based prediction of protein interactions. Kovács IA, et al. Nat Commun, 2019 Mar 18. PMID 30886144, Free PMC Article
    4. Shifted Transversal Design smart-pooling for high coverage interactome mapping. Xin X, et al. Genome Res, 2009 Jul. PMID 19447967, Free PMC Article
    5. An empirical framework for binary interactome mapping. Venkatesan K, et al. Nat Methods, 2009 Jan. PMID 19060904, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Fam124B is a novel protein possibly involved in the pathogenesis of CHARGE syndrome and neurodevelopmental disorders.
      Title: Identification and characterization of FAM124B as a novel component of a CHD7 and CHD8 containing complex.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • FLJ22746

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    protein FAM124B
    Names
    family with sequence similarity 124B

    NCBI Reference Sequences (RefSeq)

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    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_001122779.2 → NP_001116251.1  protein FAM124B isoform a

      See identical proteins and their annotated locations for NP_001116251.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AC008072, AK026399, BC025754
      Consensus CDS
      CCDS46527.1
      UniProtKB/Swiss-Prot
      A6NNC7, Q8NBZ4, Q8TAV7, Q9H5Z6
      Related
      ENSP00000386895.3, ENST00000409685.4
      Conserved Domains (1) summary
      pfam15067
      Location:10 → 244
      FAM124; FAM124 family

    2. NM_024785.3 → NP_079061.2  protein FAM124B isoform b

      See identical proteins and their annotated locations for NP_079061.2

      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)
      AC008072, BC025754
      Consensus CDS
      CCDS2461.1
      UniProtKB/Swiss-Prot
      Q9H5Z6
      Related
      ENSP00000374524.3, ENST00000389874.3
      Conserved Domains (1) summary
      pfam15067
      Location:10 → 244
      FAM124; FAM124 family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      224378698..224402107 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445888.1 → XP_047301844.1  protein FAM124B isoform X1

      Related
      ENSP00000243806.2, ENST00000243806.2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      224861847..224885253 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343994.1 → XP_054199969.1  protein FAM124B isoform X1

    Nucleotide Protein
    Heading Accession and Version
    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.

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