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    FAM72B family with sequence similarity 72 member B [ Homo sapiens (human) ]

    Gene ID: 653820, updated on 10-Dec-2024

    Summary

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    Official Symbol
    FAM72Bprovided by HGNC
    Official Full Name
    family with sequence similarity 72 member Bprovided by HGNC
    Primary source
    HGNC:HGNC:24805
    See related
    Ensembl:ENSG00000188610 MIM:614711; AllianceGenome:HGNC:24805
    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
    Also known as
    p17
    Summary
    Located in cytosol and intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in lymph node (RPKM 6.0), appendix (RPKM 3.2) and 17 other tissues See more
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    Genomic context

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    See FAM72B in Genome Data Viewer
    Location:
    1p11.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (121167646..121184340, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (121177006..121193704, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (120838983..120855681)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3 histone pseudogene 4 Neighboring gene H2B histone pseudogene 1 Neighboring gene ribosomal protein L22 pseudogene 6 Neighboring gene Sharpr-MPRA regulatory region 3361 Neighboring gene SLIT-ROBO Rho GTPase activating protein 2C Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:120787669-120788442 Neighboring gene NANOG hESC enhancer GRCh37_chr1:120765266-120765827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1605 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1606 Neighboring gene Sharpr-MPRA regulatory region 15698 duplicate 1 Neighboring gene Sharpr-MPRA regulatory region 356 duplicate 1 Neighboring gene uncharacterized LOC107985193 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:121103636-121104481 Neighboring gene SRGAP2 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 13946 Neighboring gene long intergenic non-protein coding RNA 2798

    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
    • 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. All-or-(N)One - an epistemological characterization of the human tumorigenic neuronal paralogous FAM72 gene loci. Kutzner A, et al. Genomics, 2015 Nov. PMID 26206078
    2. Identification and characterisation of the novel amyloid-beta peptide-induced protein p17. Nehar S, et al. FEBS Lett, 2009 Oct 6. PMID 19755123
    3. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    5. 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

    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 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    protein FAM72B
    Names
    RP11-439A17.6
    amyloid-beta peptide-induced protein p17

    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_001100910.2 → NP_001094380.1  protein FAM72B isoform 1

      See identical proteins and their annotated locations for NP_001094380.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC244453
      Consensus CDS
      CCDS72848.1
      UniProtKB/Swiss-Prot
      B2RPQ5, Q5QP15, Q86X60
      UniProtKB/TrEMBL
      B2RPQ4
      Related
      ENSP00000358397.3, ENST00000369390.7
      Conserved Domains (1) summary
      pfam14976
      Location:6 → 149
      FAM72; FAM72 protein

    2. NM_001320149.2 → NP_001307078.1  protein FAM72B isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 2, which lacks an internal in-frame segment and is shorter, compared to isoform 1.
      Source sequence(s)
      AC244453
      Consensus CDS
      CCDS81362.1
      UniProtKB/TrEMBL
      Q5QP12
      Related
      ENSP00000347368.4, ENST00000355228.8
      Conserved Domains (1) summary
      pfam14976
      Location:11 → 109
      FAM72; FAM72 protein

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      121167646..121184340 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      121177006..121193704 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86X60.2 GenPept UniProtKB/Swiss-Prot:Q86X60

    Gene LinkOut

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

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