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    FAM24B family with sequence similarity 24 member B [ Homo sapiens (human) ]

    Gene ID: 196792, updated on 5-Mar-2024

    Summary

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    Official Symbol
    FAM24Bprovided by HGNC
    Official Full Name
    family with sequence similarity 24 member Bprovided by HGNC
    Primary source
    HGNC:HGNC:23475
    See related
    Ensembl:ENSG00000213185 AllianceGenome:HGNC:23475
    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
    Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in kidney (RPKM 3.6), testis (RPKM 3.5) and 23 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    10q26.13
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (122849078..122879641, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (123724066..123754629, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (124608594..124639157, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene deleted in malignant brain tumors 1 protein-like Neighboring gene FAM24B-CUZD1 readthrough Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:124605161-124605662 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:124605663-124606162 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:124606229-124607110 Neighboring gene CUB and zona pellucida like domains 1 Neighboring gene Sharpr-MPRA regulatory region 14360 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:124635306-124635826 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:124635827-124636346 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:124644309-124644439 Neighboring gene C10orf88B (pseudogene) Neighboring gene Sharpr-MPRA regulatory region 13232 Neighboring gene family with sequence similarity 24 member A Neighboring gene chromosome 10 open reading frame 88 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2894

    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
    • 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. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
    3. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    4. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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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    Markers

    Readthrough FAM24B-CUZD1

    Readthrough gene: FAM24B-CUZD1, Included gene: CUZD1

    Homology

    Clone Names

    • MGC45962, DKFZp667I0323

    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 extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein FAM24B

    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_001204364.1 → NP_001191293.1  protein FAM24B precursor

      See identical proteins and their annotated locations for NP_001191293.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC073585, BC031343, BU602099, CB410280
      Consensus CDS
      CCDS31303.1
      UniProtKB/Swiss-Prot
      Q5JPG1, Q8N5W8
      Related
      ENSP00000357892.1, ENST00000368896.1
      Conserved Domains (1) summary
      pfam15193
      Location:22 → 94
      FAM24; FAM24 family

    2. NM_152644.3 → NP_689857.2  protein FAM24B precursor

      See identical proteins and their annotated locations for NP_689857.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the supported protein. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC073585, AV762334, BC031343, BG490871, CB410280
      Consensus CDS
      CCDS31303.1
      UniProtKB/Swiss-Prot
      Q5JPG1, Q8N5W8
      Related
      ENSP00000357894.3, ENST00000368898.8
      Conserved Domains (1) summary
      pfam15193
      Location:22 → 94
      FAM24; FAM24 family

    RNA

    1. NR_037911.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because it lacks a significant portion of the coding region, including the start codon, as found in variant 1.
      Source sequence(s)
      AC073585, BC031343, BU958134, CB410280
      Related
      ENST00000462859.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      122849078..122879641 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      123724066..123754629 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N5W8.2 GenPept UniProtKB/Swiss-Prot:Q8N5W8

    Gene LinkOut

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

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