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

Gene ID: 728833, updated on 3-Apr-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, Apr 2022]
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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Location:
1q21.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (145094296..145112696)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (144219006..144237402)
105.20220307 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
  • 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_2023_10

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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