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FAM43B family with sequence similarity 43 member B [ Homo sapiens (human) ]

Gene ID: 163933, updated on 5-Mar-2024

Summary

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Official Symbol
FAM43Bprovided by HGNC
Official Full Name
family with sequence similarity 43 member Bprovided by HGNC
Primary source
HGNC:HGNC:31791
See related
Ensembl:ENSG00000183114 AllianceGenome:HGNC:31791
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
Orthologs
mouse all
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Genomic context

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Location:
1p36.12
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (20552573..20555020)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (20377527..20379974)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (20879066..20881513)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:20833973-20834972 Neighboring gene mitochondrial E3 ubiquitin protein ligase 1 Neighboring gene ribosomal protein S4X pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:20878100-20878960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 365 Neighboring gene cytidine deaminase Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:20940319-20941257 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:20951525-20952059 Neighboring gene Sharpr-MPRA regulatory region 8954 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 366 Neighboring gene microRNA 6084 Neighboring gene PTEN induced kinase 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Expression of a novel gene FAM43B repressing cell proliferation is regulated by DNA methylation in hepatocellular carcinoma cell lines. Xu X, et al. Mol Cell Biochem, 2011 Aug. PMID 21461611
  2. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512
  3. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
  5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. expression of FAM43B, regulated by methylation and epigenetic silencing could contribute to hepatocellular carcinoma tumorigenesis by regulating cell proliferation
    Title: Expression of a novel gene FAM43B repressing cell proliferation is regulated by DNA methylation in hepatocellular carcinoma cell lines.
Submit: New GeneRIF Correction

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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Homology

Clone Names

  • FLJ44952

General protein information

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Preferred Names
protein FAM43B

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_207334.3 → NP_997217.1  protein FAM43B

    See identical proteins and their annotated locations for NP_997217.1

    Status: VALIDATED

    Source sequence(s)
    AK126900, BC015675
    Consensus CDS
    CCDS209.1
    UniProtKB/Swiss-Prot
    A5PKT8, A5PL01, Q6ZT52
    Related
    ENSP00000331397.4, ENST00000332947.6
    Conserved Domains (1) summary
    cl17171
    Location:71 → 263
    PH-like; Pleckstrin homology-like domain

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    20552573..20555020
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    20377527..20379974
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZT52.1 GenPept UniProtKB/Swiss-Prot:Q6ZT52

Gene LinkOut

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

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