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    FAM210A family with sequence similarity 210 member A [ Homo sapiens (human) ]

    Gene ID: 125228, updated on 10-Dec-2024

    Summary

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    Official Symbol
    FAM210Aprovided by HGNC
    Official Full Name
    family with sequence similarity 210 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:28346
    See related
    Ensembl:ENSG00000177150 MIM:617975; AllianceGenome:HGNC:28346
    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
    HsT2329; C18orf19
    Summary
    Located in mitochondrion. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in heart (RPKM 6.1), testis (RPKM 3.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM210A in Genome Data Viewer
    Location:
    18p11.21
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (13663347..13726558, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (13826182..13888908, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (13663346..13726557, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene low density lipoprotein receptor class A domain containing 4 Neighboring gene uncharacterized LOC124904256 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13474525-13475024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13474023-13474524 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:13493407-13493936 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:13493937-13494464 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:13500239-13500896 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9334 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13541887-13542410 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13542411-13542932 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13548044-13548993 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13550257-13550758 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13118 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13119 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13566667-13567294 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13121 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13122 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13124 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13613793-13614310 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13125 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13613273-13613792 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13126 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13127 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13616337-13616838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13623209-13623708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13626114-13626614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13649057-13649558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13649559-13650058 Neighboring gene microRNA 4526 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:13672949-13674148 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:13675367-13676566 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:13688247-13688792 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:13725735-13726660 Neighboring gene RNA, 7SL, cytoplasmic 362, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:13775047-13775546 Neighboring gene RNA guanine-7 methyltransferase Neighboring gene ReSE screen-validated silencer GRCh37_chr18:13823817-13823997 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9335 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9336 Neighboring gene melanocortin 5 receptor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. FAM210A: An emerging regulator of mitochondrial homeostasis. Wang Y, et al. Bioessays, 2024 Oct. PMID 39159484
    2. Circular RNA cFAM210A, degradable by HBx, inhibits HCC tumorigenesis by suppressing YBX1 transactivation. Yu J, et al. Exp Mol Med, 2023 Nov. PMID 37907737, Free PMC Article
    3. FAM210A is a novel determinant of bone and muscle structure and strength. Tanaka KI, et al. Proc Natl Acad Sci U S A, 2018 Apr 17. PMID 29618611, Free PMC Article
    4. Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Estrada K, et al. Nat Genet, 2012 Apr 15. PMID 22504420, Free PMC Article
    5. Gene essentiality and synthetic lethality in haploid human cells. Blomen VA, et al. Science, 2015 Nov 27. PMID 26472760

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Circular RNA cFAM210A, degradable by HBx, inhibits HCC tumorigenesis by suppressing YBX1 transactivation.
      Title: Circular RNA cFAM210A, degradable by HBx, inhibits HCC tumorigenesis by suppressing YBX1 transactivation.
    2. Genetic variation near FAM210A, a gene of previously unknown function, was strongly associated with both appendicular and whole body lean mass, as well as bone mineral density.
      Title: FAM210A is a novel determinant of bone and muscle structure and strength.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    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

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    EBI GWAS Catalog

    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

    • MGC24180

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    protein FAM210A
    Names
    uncharacterized protein C18orf19

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001098801.2 → NP_001092271.1  protein FAM210A

      See identical proteins and their annotated locations for NP_001092271.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA602175, AP001010, BU189118, DA560663, DA573992
      Consensus CDS
      CCDS11866.1
      UniProtKB/Swiss-Prot
      D3DUJ4, Q96ND0
      UniProtKB/TrEMBL
      K7EK00
      Conserved Domains (1) summary
      pfam06916
      Location:124 → 211
      DUF1279; Protein of unknown function (DUF1279)

    2. NM_152352.4 → NP_689565.2  protein FAM210A

      See identical proteins and their annotated locations for NP_689565.2

      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)
      AA602175, AP001010, BU189118, DA573992, DA895646
      Consensus CDS
      CCDS11866.1
      UniProtKB/Swiss-Prot
      D3DUJ4, Q96ND0
      UniProtKB/TrEMBL
      K7EK00
      Related
      ENSP00000498370.1, ENST00000651643.1
      Conserved Domains (1) summary
      pfam06916
      Location:124 → 211
      DUF1279; Protein of unknown function (DUF1279)

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      13663347..13726558 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024451083.2 → XP_024306851.1  protein FAM210A isoform X1

      UniProtKB/Swiss-Prot
      D3DUJ4, Q96ND0
      UniProtKB/TrEMBL
      K7EK00
      Conserved Domains (1) summary
      pfam06916
      Location:124 → 211
      DUF1279; Protein of unknown function (DUF1279)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      13826182..13888908 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318175.1 → XP_054174150.1  protein FAM210A isoform X1

      UniProtKB/Swiss-Prot
      D3DUJ4, Q96ND0
      UniProtKB/TrEMBL
      K7EK00
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96ND0.2 GenPept UniProtKB/Swiss-Prot:Q96ND0

    Gene LinkOut

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

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