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    FAM72D family with sequence similarity 72 member D [ Homo sapiens (human) ]

    Gene ID: 728833, updated on 28-Oct-2024

    Summary

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    Official Symbol
    FAM72Dprovided by HGNC
    Official Full Name
    family with sequence similarity 72 member Dprovided by HGNC
    Primary source
    HGNC:HGNC:33593
    See related
    Ensembl:ENSG00000215784 MIM:614712; AllianceGenome:HGNC:33593
    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
    GCUD2
    Summary
    Located in cytosol and intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Oct 2024]
    Annotation information
    Note: There is a set of highly related genes in the FAM72 set. This instance was annotated as FAM72A in Build 36.2, based on the evaluation that AB096683, used at that time to define FAM72A, aligned best to AL109844. The definition of FAM72A was changed to the locus on CR407567.2, so this locus was renamed. [13 Feb 2013]
    Expression
    Broad expression in lymph node (RPKM 4.5), appendix (RPKM 2.4) and 18 other tissues See more
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    Genomic context

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    See FAM72D in Genome Data Viewer
    Location:
    1q21.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (145094296..145112696)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (144219006..144237402)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (143896448..143914847, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene immunoglobulin kappa variable 1-39-like Neighboring gene SLIT-ROBO Rho GTPase activating protein 2B Neighboring gene uncharacterized LOC107985595 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:144076705-144077206 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:144028101-144028601 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:144017621-144018286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:144011847-144012347 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:144010333-144011311 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:144009352-144010332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:144008259-144008767 Neighboring gene Sharpr-MPRA regulatory region 15698 duplicate 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:144006805-144007304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:143989479-143990347 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:143986871-143987740 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:143944389-143945152 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:143938883-143939875 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:143934844-143935344 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:143913587-143914089 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:143912345-143912912 Neighboring gene Sharpr-MPRA regulatory region 11936 Neighboring gene tRNA-Asn (anticodon GTT) 10-1 Neighboring gene myomegalin-like

    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. The hydroxymethylome of multiple myeloma identifies FAM72D as a 1q21 marker linked to proliferation. Chatonnet F, et al. Haematologica, 2020 Mar. PMID 31221779, Free PMC Article
    2. 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
    3. 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
    4. Ubiquitin-mediated proteolysis of HuR by heat shock. Abdelmohsen K, et al. EMBO J, 2009 May 6. PMID 19322201, 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 (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The hydroxymethylome of multiple myeloma identifies FAM72D as a 1q21 marker linked to proliferation.
      Title: The hydroxymethylome of multiple myeloma identifies FAM72D as a 1q21 marker linked to proliferation.
    2. An epistemological characterization of the human tumorigenic neuronal paralogous FAM72 gene loci (FAM72A, FAM72B, FAM72C, FAM72D).
      Title: All-or-(N)One - an epistemological characterization of the human tumorigenic neuronal paralogous FAM72 gene loci.
    Submit: New GeneRIF Correction

    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

    Clone Names

    • FLJ97145, MGC57827, MGC182081, MGC182095

    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 FAM72D
    Names
    gastric cancer up-regulated protein 2
    gastric cancer up-regulated-2

    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_001345942.2 → NP_001332871.1  protein FAM72D isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is the same size but contains a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC242498
      UniProtKB/TrEMBL
      A0A087X1Y7
      Conserved Domains (1) summary
      pfam14976
      Location:49 → 149
      FAM72; FAM72 protein

    2. NM_207418.3 → NP_997301.2  protein FAM72D isoform 1

      See identical proteins and their annotated locations for NP_997301.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
      Source sequence(s)
      AB096683, AC242498
      Consensus CDS
      CCDS72855.1
      UniProtKB/Swiss-Prot
      Q6L9T8
      UniProtKB/TrEMBL
      B2RPQ4
      Related
      ENSP00000383682.1, ENST00000400889.3
      Conserved Domains (1) summary
      pfam14976
      Location:6 → 149
      FAM72; FAM72 protein

    RNA

    1. NR_144320.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' end compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AC242498

    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
      145094296..145112696
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429806.1 → XP_047285762.1  protein FAM72D isoform X1

      UniProtKB/Swiss-Prot
      Q6L9T8

    2. XM_011509962.4 → XP_011508264.1  protein FAM72D isoform X2

      UniProtKB/TrEMBL
      A0A087X1Y7
      Conserved Domains (1) summary
      pfam14976
      Location:49 → 149
      FAM72; FAM72 protein

    3. XM_047429809.1 → XP_047285765.1  protein FAM72D isoform X1

      UniProtKB/Swiss-Prot
      Q6L9T8

    4. XM_024449521.2 → XP_024305289.1  protein FAM72D isoform X5

      UniProtKB/TrEMBL
      A0A087WSW5, A0A087WZP4
      Conserved Domains (1) summary
      pfam14976
      Location:6 → 76
      FAM72; FAM72 protein

    5. XM_024449520.2 → XP_024305288.1  protein FAM72D isoform X4

      UniProtKB/TrEMBL
      Q5QP12
      Conserved Domains (1) summary
      pfam14976
      Location:1 → 120
      FAM72; FAM72 protein

    6. XM_047429821.1 → XP_047285777.1  protein FAM72D isoform X4

    7. XM_011509963.4 → XP_011508265.1  protein FAM72D isoform X3

      Conserved Domains (1) summary
      pfam14976
      Location:6 → 118
      FAM72; FAM72 protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      144219006..144237402
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338591.1 → XP_054194566.1  protein FAM72D isoform X1

      UniProtKB/Swiss-Prot
      Q6L9T8

    2. XM_054338593.1 → XP_054194568.1  protein FAM72D isoform X2

    3. XM_054338592.1 → XP_054194567.1  protein FAM72D isoform X1

      UniProtKB/Swiss-Prot
      Q6L9T8

    4. XM_054338595.1 → XP_054194570.1  protein FAM72D isoform X4

    5. XM_054338596.1 → XP_054194571.1  protein FAM72D isoform X4

    6. XM_054338597.1 → XP_054194572.1  protein FAM72D isoform X5

      UniProtKB/TrEMBL
      A0A087WSW5

    7. XM_054338594.1 → XP_054194569.1  protein FAM72D isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6L9T8.1 GenPept UniProtKB/Swiss-Prot:Q6L9T8

    Gene LinkOut

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

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