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

Gene ID: 84070, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (49582873..49622758, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (49545133..49585767, complement)
105.20220307 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 (17) 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)

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

  • 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_2023_10

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

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