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

Gene ID: 170062, updated on 17-Sep-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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See FAM47B in Genome Data Viewer
Location:
Xp21.1
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (34942796..34944915)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (34537453..34539572)
RS_2024_09 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. In-Depth In Vivo Crosslinking in Minutes by a Compact, Membrane-Permeable, and Alkynyl-Enrichable Crosslinker. Gao H, et al. Anal Chem, 2022 May 31. PMID 35575683
  4. 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
  5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

See all (8) 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_2024_08

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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