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

Gene ID: 125228, updated on 3-Nov-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, Nov 2024]
Expression
Ubiquitous expression in heart (RPKM 6.1), testis (RPKM 3.9) and 25 other tissues See more
Orthologs
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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: HPA RNA-seq normal tissues 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. 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. USP9X deubiquitinates and stabilizes CDC123 to promote breast carcinogenesis through regulating cell cycle. Song N, et al. Mol Carcinog, 2023 Oct. PMID 37314216
  4. 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
  5. 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

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)

Genotypes

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

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
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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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
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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