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    FAM216B family with sequence similarity 216 member B [ Homo sapiens (human) ]

    Gene ID: 144809, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FAM216Bprovided by HGNC
    Official Full Name
    family with sequence similarity 216 member Bprovided by HGNC
    Primary source
    HGNC:HGNC:26883
    See related
    Ensembl:ENSG00000179813 AllianceGenome:HGNC:26883
    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
    Also known as
    C13orf30
    Expression
    Biased expression in lung (RPKM 8.2), heart (RPKM 4.2) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM216B in Genome Data Viewer
    Location:
    13q14.11
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (42781584..42791549)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (42001615..42011583)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (43355720..43365685)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene TNF superfamily member 11 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:43174688-43175887 Neighboring gene uncharacterized LOC124903163 Neighboring gene NANOG hESC enhancer GRCh37_chr13:43230228-43230808 Neighboring gene uncharacterized LOC124903164 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7654 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:43306033-43306663 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:43336737-43337936 Neighboring gene uncharacterized LOC107984611 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7655 Neighboring gene long intergenic non-protein coding RNA 1050

    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. Meta-analysis of Transcriptomic Data from Lung Autopsy and Cellular Models of SARS-CoV-2 Infection. Cadore NA, et al. Biochem Genet, 2024 Apr. PMID 37486510
    2. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
    3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    5. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Meta-analysis of Transcriptomic Data from Lung Autopsy and Cellular Models of SARS-CoV-2 Infection.
      Title: Meta-analysis of Transcriptomic Data from Lung Autopsy and Cellular Models of SARS-CoV-2 Infection.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ40919, MGC138442

    General protein information

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    Preferred Names
    protein FAM216B

    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_001318932.2 → NP_001305861.1  protein FAM216B

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) is the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK098238, AL138819, CB240730, DB221838
      Consensus CDS
      CCDS9386.1
      UniProtKB/Swiss-Prot
      B1ALI3, Q8N7L0
      Related
      ENSP00000319336.1, ENST00000313851.3
      Conserved Domains (1) summary
      pfam15107
      Location:4 → 106
      FAM216B; FAM216B protein family

    2. NM_182508.3 → NP_872314.1  protein FAM216B

      See identical proteins and their annotated locations for NP_872314.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK098238, AK310859, AL138819, CB240730, DA592345, DB221838
      Consensus CDS
      CCDS9386.1
      UniProtKB/Swiss-Prot
      B1ALI3, Q8N7L0
      Related
      ENSP00000445786.1, ENST00000537894.5
      Conserved Domains (1) summary
      pfam15107
      Location:4 → 106
      FAM216B; FAM216B protein 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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      42781584..42791549
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      42001615..42011583
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N7L0.1 GenPept UniProtKB/Swiss-Prot:Q8N7L0

    Gene LinkOut

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

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