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    FAM216A family with sequence similarity 216 member A [ Homo sapiens (human) ]

    Gene ID: 29902, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FAM216Aprovided by HGNC
    Official Full Name
    family with sequence similarity 216 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:30180
    See related
    Ensembl:ENSG00000204856 AllianceGenome:HGNC:30180
    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
    C12orf24; HSU79274
    Expression
    Biased expression in testis (RPKM 25.9), brain (RPKM 7.8) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM216A in Genome Data Viewer
    Location:
    12q24.11
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (110468427..110490385)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (110446166..110468079)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (110906650..110928190)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110886698-110887550 Neighboring gene actin related protein 2/3 complex subunit 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7004 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4856 Neighboring gene GPN-loop GTPase 3 Neighboring gene ribosomal protein L31 pseudogene 49 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7005 Neighboring gene uncharacterized LOC124903016 Neighboring gene uncharacterized LOC124903015 Neighboring gene small nucleolar RNA SNORD50 Neighboring gene Sharpr-MPRA regulatory region 4252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7006 Neighboring gene VPS29 retromer complex component Neighboring gene ReSE screen-validated silencer GRCh37_chr12:110953094-110953337 Neighboring gene RAD9 checkpoint clamp component B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7007 Neighboring gene protein phosphatase targeting COQ7

    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. Large-scale concatenation cDNA sequencing. Yu W, et al. Genome Res, 1997 Apr. PMID 9110174, Free PMC Article
    2. A "double adaptor" method for improved shotgun library construction. Andersson B, et al. Anal Biochem, 1996 Apr 5. PMID 8619474
    3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. Hein MY, et al. Cell, 2015 Oct 22. PMID 26496610
    4. 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
    5. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    General protein information

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    Preferred Names
    protein FAM216A
    Names
    protein predicted by clone 23733
    uncharacterized protein C12orf24

    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_013300.3 → NP_037432.2  protein FAM216A

      See identical proteins and their annotated locations for NP_037432.2

      Status: VALIDATED

      Source sequence(s)
      AK225731
      Consensus CDS
      CCDS31899.1
      UniProtKB/Swiss-Prot
      A6NH30, Q8WUB2, Q99776
      Related
      ENSP00000366901.5, ENST00000377673.10
      Conserved Domains (1) summary
      pfam15107
      Location:73 → 175
      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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      110468427..110490385
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024448959.2 → XP_024304727.1  protein FAM216A isoform X2

      Conserved Domains (1) summary
      pfam15107
      Location:1 → 81
      FAM216B; FAM216B protein family

    2. XM_005253875.6 → XP_005253932.1  protein FAM216A isoform X2

      Conserved Domains (1) summary
      pfam15107
      Location:1 → 81
      FAM216B; FAM216B protein family

    3. XM_011538246.4 → XP_011536548.1  protein FAM216A isoform X1

      Conserved Domains (1) summary
      pfam15107
      Location:34 → 136
      FAM216B; FAM216B protein family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      110446166..110468079
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371891.1 → XP_054227866.1  protein FAM216A isoform X2

    2. XM_054371890.1 → XP_054227865.1  protein FAM216A isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WUB2.1 GenPept UniProtKB/Swiss-Prot:Q8WUB2

    Gene LinkOut

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