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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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