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    FAM86B2 family with sequence similarity 86 member B2 [ Homo sapiens (human) ]

    Gene ID: 653333, updated on 2-Nov-2024

    Summary

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    Official Symbol
    FAM86B2provided by HGNC
    Official Full Name
    family with sequence similarity 86 member B2provided by HGNC
    Primary source
    HGNC:HGNC:32222
    See related
    Ensembl:ENSG00000145002 MIM:616123; AllianceGenome:HGNC:32222
    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
    Summary
    Predicted to enable protein-lysine N-methyltransferase activity. Predicted to be involved in methylation. Part of protein-containing complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 3.0), thyroid (RPKM 3.0) and 25 other tissues See more
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    Genomic context

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    See FAM86B2 in Genome Data Viewer
    Location:
    8p23.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (12424421..12436400, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (12703972..12715982, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (12281930..12293909, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 66 member A Neighboring gene defensin beta 109A (pseudogene) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:12270174-12270694 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:12277688-12278525 Neighboring gene Putative protein FAM90A2P Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:12283742-12284386 Neighboring gene ALG1 like 12, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:12292881-12293524 Neighboring gene Sharpr-MPRA regulatory regions 5244/11724 and 13137 Neighboring gene FAM86B2 divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:12302867-12303469 Neighboring gene defensin beta 109E (pseudogene) Neighboring gene ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:12338855-12339594 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:12344744-12345435 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:12354567-12355426 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:12355427-12356286 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:12358763-12359264 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:12368735-12369234

    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. Personalized copy number and segmental duplication maps using next-generation sequencing. Alkan C, et al. Nat Genet, 2009 Oct. PMID 19718026, Free PMC Article
    2. A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. Cloutier P, et al. PLoS Genet, 2013. PMID 23349634, Free PMC Article
    3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identifies FAM86B2 as being one of 30 genes with the most variable copy numbers in three human genomes.
      Title: Personalized copy number and segmental duplication maps using next-generation sequencing.
    Submit: New GeneRIF Correction

    Phenotypes

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    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-lysine N-methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in methylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of translation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of protein-containing complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    putative protein N-methyltransferase FAM86B2
    Names
    protein FAM86B2

    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_001137610.3 → NP_001131082.1  putative protein N-methyltransferase FAM86B2

      See identical proteins and their annotated locations for NP_001131082.1

      Status: VALIDATED

      Source sequence(s)
      AC087203
      Consensus CDS
      CCDS59092.1
      UniProtKB/Swiss-Prot
      P0C5J1
      Related
      ENSP00000262365.4, ENST00000262365.9
      Conserved Domains (2) summary
      pfam14904
      Location:6 → 97
      FAM86; Family of unknown function
      cl17173
      Location:135 → 286
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

    RNA

    1. NR_148876.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC087203
      Related
      ENST00000687060.1

    2. NR_148877.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC087203
      Related
      ENST00000687949.1

    3. NR_148878.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC087203
      Related
      ENST00000685726.1

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      12424421..12436400 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654717.1 Reference GRCh38.p14 PATCHES

      Range
      5619758..5631671 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_037916390.2 → XP_037772318.1  putative protein N-methyltransferase FAM86B2 isoform X2

      Conserved Domains (2) summary
      pfam14904
      Location:6 → 88
      FAM86; Family of unknown function
      cl17173
      Location:125 → 276
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

    2. XM_037916391.2 → XP_037772319.1  putative protein N-methyltransferase FAM86B2 isoform X3

      Conserved Domains (2) summary
      pfam14904
      Location:6 → 77
      FAM86; Family of unknown function
      cl17173
      Location:114 → 265
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

    3. XM_047443182.1 → XP_047299138.1  putative protein N-methyltransferase FAM86B2 isoform X5

    4. XM_037916393.2 → XP_037772321.1  putative protein N-methyltransferase FAM86B2 isoform X6

      Conserved Domains (2) summary
      pfam14904
      Location:6 → 53
      FAM86; Family of unknown function
      cl17173
      Location:74 → 225
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

    5. XM_037916392.2 → XP_037772320.1  putative protein N-methyltransferase FAM86B2 isoform X4

      Conserved Domains (2) summary
      pfam14904
      Location:6 → 80
      FAM86; Family of unknown function
      cl17173
      Location:101 → 252
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

    6. XM_037916389.2 → XP_037772317.1  putative protein N-methyltransferase FAM86B2 isoform X1

      UniProtKB/TrEMBL
      A0AAG2TJ01
      Conserved Domains (2) summary
      pfam14904
      Location:6 → 98
      FAM86; Family of unknown function
      cl17173
      Location:135 → 286
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

    7. XM_047443183.1 → XP_047299139.1  putative protein N-methyltransferase FAM86B2 isoform X7

    8. XM_047443184.1 → XP_047299140.1  putative protein N-methyltransferase FAM86B2 isoform X7

    9. XM_047443185.1 → XP_047299141.1  putative protein N-methyltransferase FAM86B2 isoform X7

    10. XM_047443186.1 → XP_047299142.1  putative protein N-methyltransferase FAM86B2 isoform X8

      UniProtKB/TrEMBL
      A0AAG2UXB1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      12703972..12715982 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0C5J1.1 GenPept UniProtKB/Swiss-Prot:P0C5J1

    Gene LinkOut

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