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    FAM222A family with sequence similarity 222 member A [ Homo sapiens (human) ]

    Gene ID: 84915, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FAM222Aprovided by HGNC
    Official Full Name
    family with sequence similarity 222 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:25915
    See related
    Ensembl:ENSG00000139438 AllianceGenome:HGNC:25915
    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
    C12orf34
    Expression
    Broad expression in testis (RPKM 6.4), brain (RPKM 5.9) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM222A in Genome Data Viewer
    Location:
    12q24.11
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (109713825..109770495)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (109689278..109745953)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (110151630..110208300)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:110010699-110011200 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:110011201-110011700 Neighboring gene metabolism of cobalamin associated B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110036333-110037022 Neighboring gene mevalonate kinase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110049030-110049530 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:110105927-110106096 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:110108888-110110087 Neighboring gene RN7SK pseudogene 250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110133637-110134446 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110150092-110150655 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4843 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4842 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110164162-110164872 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110169301-110169801 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110174581-110175080 Neighboring gene HNF1 motif-containing MPRA enhancer 206 Neighboring gene FAM222A antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110177165-110177666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110177667-110178166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110209881-110210380 Neighboring gene Sharpr-MPRA regulatory region 11384 Neighboring gene transient receptor potential cation channel subfamily V member 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:110258983-110259483 Neighboring gene uncharacterized LOC105369975 Neighboring gene microRNA 4497

    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. FAM222A, Part of the BET-Regulated Basal Endothelial Transcriptome, Is a Novel Determinant of Endothelial Biology and Angiogenesis-Brief Report. Tzani A, et al. Arterioscler Thromb Vasc Biol, 2024 Jan. PMID 37942611,
    2. FAM222A encodes a protein which accumulates in plaques in Alzheimer's disease. Yan T, et al. Nat Commun, 2020 Jan 21. PMID 31964863, Free PMC Article
    3. CFTR interactome mapping using the mammalian membrane two-hybrid high-throughput screening system. Lim SH, et al. Mol Syst Biol, 2022 Feb. PMID 35156780, Free PMC Article
    4. Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development. Wang P, et al. J Clin Invest, 2019 Jul 25. PMID 31343991, Free PMC Article
    5. The protein interaction landscape of the human CMGC kinase group. Varjosalo M, et al. Cell Rep, 2013 Apr 25. PMID 23602568

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FAM222A, Part of the BET-Regulated Basal Endothelial Transcriptome, Is a Novel Determinant of Endothelial Biology and Angiogenesis-Brief Report.
      Title: FAM222A, Part of the BET-Regulated Basal Endothelial Transcriptome, Is a Novel Determinant of Endothelial Biology and Angiogenesis-Brief Report.
    2. Study reports FAM222A as a putative brain atrophy susceptibility gene. The protein encoded by FAM222A is predominantly expressed in the CNS and is increased in brains of patients with Alzheimer's disease (AD) and in an AD mouse model. It accumulates within amyloid deposits, physically interacts with amyloid-beta (Abeta) via its N-terminal Abeta binding domain and facilitates Abeta aggregation.
      Title: FAM222A encodes a protein which accumulates in plaques in Alzheimer's disease.
    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

    • FLJ14721

    General protein information

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    Preferred Names
    protein FAM222A
    Names
    aggregatin

    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_032829.3 → NP_116218.2  protein FAM222A

      See identical proteins and their annotated locations for NP_116218.2

      Status: VALIDATED

      Source sequence(s)
      AC007834, BC020193, DN994281
      Consensus CDS
      CCDS9133.1
      UniProtKB/Swiss-Prot
      Q5U5X8, Q8NCD5, Q96SP6
      Related
      ENSP00000443292.1, ENST00000538780.2
      Conserved Domains (1) summary
      pfam15258
      Location:35 → 235
      FAM222A; Protein family of FAM222A

    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
      109713825..109770495
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449229.2 → XP_024304997.1  protein FAM222A isoform X2

      Conserved Domains (1) summary
      pfam15258
      Location:1 → 201
      FAM222A; Protein family of FAM222A

    2. XM_047429748.1 → XP_047285704.1  protein FAM222A isoform X1

      UniProtKB/Swiss-Prot
      Q5U5X8, Q8NCD5, Q96SP6

    3. XM_047429749.1 → XP_047285705.1  protein FAM222A isoform X1

      UniProtKB/Swiss-Prot
      Q5U5X8, Q8NCD5, Q96SP6

    4. XM_017020055.2 → XP_016875544.1  protein FAM222A isoform X1

      UniProtKB/Swiss-Prot
      Q5U5X8, Q8NCD5, Q96SP6
      Related
      ENSP00000351783.3, ENST00000358906.3
      Conserved Domains (1) summary
      pfam15258
      Location:35 → 235
      FAM222A; Protein family of FAM222A

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      109689278..109745953
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373596.1 → XP_054229571.1  protein FAM222A isoform X2

    2. XM_054373593.1 → XP_054229568.1  protein FAM222A isoform X1

      UniProtKB/Swiss-Prot
      Q5U5X8, Q8NCD5, Q96SP6

    3. XM_054373594.1 → XP_054229569.1  protein FAM222A isoform X1

      UniProtKB/Swiss-Prot
      Q5U5X8, Q8NCD5, Q96SP6

    4. XM_054373595.1 → XP_054229570.1  protein FAM222A isoform X1

      UniProtKB/Swiss-Prot
      Q5U5X8, Q8NCD5, Q96SP6
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5U5X8.1 GenPept UniProtKB/Swiss-Prot:Q5U5X8

    Gene LinkOut

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

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