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

Gene ID: 29902, updated on 5-Mar-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
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Genomic context

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Location:
12q24.11
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (110468427..110490385)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (110446166..110468079)
105.20220307 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)

Genotypes

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_2023_10

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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