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    FAM186B family with sequence similarity 186 member B [ Homo sapiens (human) ]

    Gene ID: 84070, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FAM186Bprovided by HGNC
    Official Full Name
    family with sequence similarity 186 member Bprovided by HGNC
    Primary source
    HGNC:HGNC:25296
    See related
    Ensembl:ENSG00000135436 AllianceGenome:HGNC:25296
    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
    C12orf25
    Summary
    This gene product is a member of the FAM186 family, however, its exact function is not known. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
    Expression
    Restricted expression toward testis (RPKM 21.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM186B in Genome Data Viewer
    Location:
    12q13.12
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (49582873..49622758, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (49545133..49585767, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (49976656..49999422, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369761 Neighboring gene potassium voltage-gated channel subfamily H member 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:49961221-49962024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6317 Neighboring gene microspherule protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6319 Neighboring gene RNA, U6 small nuclear 834, pseudogene Neighboring gene RNA polymerase II subunit K pseudogene 1 Neighboring gene PARK7 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4441 Neighboring gene HIG1 hypoxia inducible domain family member 1A pseudogene 9 Neighboring gene pre-mRNA processing factor 40 homolog B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:50041399-50042391 Neighboring gene formin like 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:50052522-50052699 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:50056671-50057609 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:50067301-50067999 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6322 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6323 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:50090751-50091252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6324 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6325 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6326 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6327 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6328 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4442 Neighboring gene uncharacterized LOC124902929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6329 Neighboring gene cytochrome c oxidase subunit 5B pseudogene 5

    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. Defining human ERAD networks through an integrative mapping strategy. Christianson JC, et al. Nat Cell Biol, 2011 Nov 27. PMID 22119785, Free PMC Article
    2. Proteome-scale mapping of binding sites in the unstructured regions of the human proteome. Benz C, et al. Mol Syst Biol, 2022 Jan. PMID 35044719, Free PMC Article
    3. New interaction partners for Nek4.1 and Nek4.2 isoforms: from the DNA damage response to RNA splicing. Basei FL, et al. Proteome Sci, 2015. PMID 25798074, Free PMC Article
    4. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. Simpson JC, et al. EMBO Rep, 2000 Sep. PMID 11256614, Free PMC Article
    5. The LIFEdb database in 2006. Mehrle A, et al. Nucleic Acids Res, 2006 Jan 1. PMID 16381901, Free PMC Article

    See all (19) 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

    Clone Names

    • DKFZp434J0113, DKFZp434N2350

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    protein FAM186B

    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_032130.3 → NP_115506.1  protein FAM186B

      See identical proteins and their annotated locations for NP_115506.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the protein coding transcript.
      Source sequence(s)
      AL136748, DB087952
      Consensus CDS
      CCDS8788.1
      UniProtKB/Swiss-Prot
      B4DZ15, Q8IYM0, Q8TCP7, Q9H0L3
      UniProtKB/TrEMBL
      B3KSB5
      Related
      ENSP00000257894.2, ENST00000257894.2
      Conserved Domains (1) summary
      pfam11843
      Location:484 → 578
      DUF3363; Protein of unknown function (DUF3363)

    RNA

    1. NR_027450.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate donor splice site in the first exon, and also contains an alternate 3' terminal exon, compared to variant 1. It is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC020612, AI829695, AK302702, AL136748, DC402111
      Related
      ENST00000533372.1

    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
      49582873..49622758 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538797.4 → XP_011537099.1  protein FAM186B isoform X5

      UniProtKB/TrEMBL
      B3KSB5
      Conserved Domains (1) summary
      pfam11843
      Location:484 → 578
      DUF3363; Protein of unknown function (DUF3363)

    2. XM_006719626.3 → XP_006719689.1  protein FAM186B isoform X2

      UniProtKB/TrEMBL
      B3KSB5
      Conserved Domains (1) summary
      pfam11843
      Location:484 → 578
      DUF3363; Protein of unknown function (DUF3363)

    3. XM_006719625.3 → XP_006719688.1  protein FAM186B isoform X1

      See identical proteins and their annotated locations for XP_006719688.1

      UniProtKB/Swiss-Prot
      B4DZ15, Q8IYM0, Q8TCP7, Q9H0L3
      UniProtKB/TrEMBL
      B3KSB5
      Conserved Domains (1) summary
      pfam11843
      Location:484 → 578
      DUF3363; Protein of unknown function (DUF3363)

    4. XM_006719627.4 → XP_006719690.1  protein FAM186B isoform X3

      UniProtKB/TrEMBL
      B3KSB5
      Conserved Domains (1) summary
      pfam11843
      Location:484 → 578
      DUF3363; Protein of unknown function (DUF3363)

    5. XM_011538796.3 → XP_011537098.1  protein FAM186B isoform X1

      See identical proteins and their annotated locations for XP_011537098.1

      UniProtKB/Swiss-Prot
      B4DZ15, Q8IYM0, Q8TCP7, Q9H0L3
      UniProtKB/TrEMBL
      B3KSB5
      Conserved Domains (1) summary
      pfam11843
      Location:484 → 578
      DUF3363; Protein of unknown function (DUF3363)

    6. XM_047429639.1 → XP_047285595.1  protein FAM186B isoform X4

    7. XM_047429640.1 → XP_047285596.1  protein FAM186B isoform X4

    8. XM_047429641.1 → XP_047285597.1  protein FAM186B isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      49545133..49585767 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373402.1 → XP_054229377.1  protein FAM186B isoform X5

    2. XM_054373398.1 → XP_054229373.1  protein FAM186B isoform X2

    3. XM_054373396.1 → XP_054229371.1  protein FAM186B isoform X1

      UniProtKB/Swiss-Prot
      B4DZ15, Q8IYM0, Q8TCP7, Q9H0L3

    4. XM_054373399.1 → XP_054229374.1  protein FAM186B isoform X3

    5. XM_054373397.1 → XP_054229372.1  protein FAM186B isoform X1

      UniProtKB/Swiss-Prot
      B4DZ15, Q8IYM0, Q8TCP7, Q9H0L3

    6. XM_054373400.1 → XP_054229375.1  protein FAM186B isoform X4

    7. XM_054373401.1 → XP_054229376.1  protein FAM186B isoform X4

    8. XM_054373403.1 → XP_054229378.1  protein FAM186B isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IYM0.2 GenPept UniProtKB/Swiss-Prot:Q8IYM0

    Gene LinkOut

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

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