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    FAM186A family with sequence similarity 186 member A [ Homo sapiens (human) ]

    Gene ID: 121006, updated on 10-Dec-2024

    Summary

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    Official Symbol
    FAM186Aprovided by HGNC
    Official Full Name
    family with sequence similarity 186 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:26980
    See related
    Ensembl:ENSG00000185958 AllianceGenome:HGNC:26980
    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
    Expression
    Restricted expression toward testis (RPKM 4.7) See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM186A in Genome Data Viewer
    Location:
    12q13.12
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (50327309..50396609, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (50290439..50359662, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (50721092..50790392, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene LIM domain and actin binding 1 Neighboring gene RNA, U6 small nuclear 1093, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr12:50666914-50667093 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4451 Neighboring gene uncharacterized LOC107984505 Neighboring gene KIAA1586 pseudogene Neighboring gene MPRA-validated peak1729 silencer Neighboring gene ribosomal protein L26 pseudogene 33 Neighboring gene La ribonucleoprotein 4 Neighboring gene small nucleolar RNA, C/D box 133 Neighboring gene uncharacterized LOC124903127

    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. The finished DNA sequence of human chromosome 12. Scherer SE, et al. Nature, 2006 Mar 16. PMID 16541075
    2. USP7 targets XIAP for cancer progression: Establishment of a p53-independent therapeutic avenue for glioma. Saha G, et al. Oncogene, 2022 Nov. PMID 36243803
    3. Creation of genome-wide protein expression libraries using random activation of gene expression. Harrington JJ, et al. Nat Biotechnol, 2001 May. PMID 11329013
    4. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. Yao Z, et al. Mol Cell, 2017 Jan 19. PMID 28065597, Free PMC Article
    5. In-Depth In Vivo Crosslinking in Minutes by a Compact, Membrane-Permeable, and Alkynyl-Enrichable Crosslinker. Gao H, et al. Anal Chem, 2022 May 31. PMID 35575683

    See all (9) 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 FAM186A

    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_001145475.3 → NP_001138947.1  protein FAM186A

      See identical proteins and their annotated locations for NP_001138947.1

      Status: VALIDATED

      Source sequence(s)
      AC090058, AC140061, AI808315, AL833333, BG206781
      Consensus CDS
      CCDS44878.1
      UniProtKB/Swiss-Prot
      A6NE01
      UniProtKB/TrEMBL
      F5GYN0
      Related
      ENSP00000329995.5, ENST00000327337.6
      Conserved Domains (2) summary
      PRK10715
      Location:1291 → 1491
      flk; flagella biosynthesis regulator; Provisional
      pfam03157
      Location:1045 → 1645
      Glutenin_hmw; High molecular weight glutenin subunit

    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
      50327309..50396609 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      50290439..50359662 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NE01.3 GenPept UniProtKB/Swiss-Prot:A6NE01

    Gene LinkOut

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

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