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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)

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

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