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    FAM47B family with sequence similarity 47 member B [ Homo sapiens (human) ]

    Gene ID: 170062, updated on 5-Mar-2024

    Summary

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    Official Symbol
    FAM47Bprovided by HGNC
    Official Full Name
    family with sequence similarity 47 member Bprovided by HGNC
    Primary source
    HGNC:HGNC:26659
    See related
    Ensembl:ENSG00000189132 AllianceGenome:HGNC:26659
    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
    all
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    Genomic context

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    Location:
    Xp21.1
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (34942796..34944915)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (34537453..34539572)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (34960913..34963032)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene SRSF2 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:34499547-34500046 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:34575763-34576344 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:34577375-34577902 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:34577903-34578428 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:34578429-34578954 Neighboring gene NANOG hESC enhancer GRCh37_chrX:34611791-34612292 Neighboring gene transmembrane protein 47 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:34782794-34783536 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:35063242-35063449 Neighboring gene MAGE family member B18 pseudogene Neighboring gene Sharpr-MPRA regulatory region 13056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29517 Neighboring gene RNA, U6 small nuclear 1087, pseudogene

    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. Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease. Beilina A, et al. Proc Natl Acad Sci U S A, 2014 Feb 18. PMID 24510904, Free PMC Article
    2. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article
    3. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. Oláh J, et al. J Biol Chem, 2011 Sep 30. PMID 21832049, Free PMC Article
    4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (7) 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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    Homology

    Clone Names

    • FLJ35782

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein FAM47B

    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.

    Genomic

    1. NG_021372.1 RefSeqGene

      Range
      5001..7120
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_152631.3 → NP_689844.2  protein FAM47B

      See identical proteins and their annotated locations for NP_689844.2

      Status: VALIDATED

      Source sequence(s)
      AL043092, AL043093, BC035026
      Consensus CDS
      CCDS14236.1
      UniProtKB/Swiss-Prot
      Q5JQN5, Q6PIG3, Q8NA70
      Related
      ENSP00000328307.5, ENST00000329357.6
      Conserved Domains (2) summary
      pfam06346
      Location:189 → 328
      Drf_FH1; Formin Homology Region 1
      pfam14642
      Location:1 → 258
      FAM47; FAM47 family

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      34942796..34944915
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      34537453..34539572
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NA70.2 GenPept UniProtKB/Swiss-Prot:Q8NA70

    Gene LinkOut

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

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