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

Gene ID: 653820, updated on 2-Nov-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, Nov 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 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)

Genotypes

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

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