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    FAM72C family with sequence similarity 72 member C [ Homo sapiens (human) ]

    Gene ID: 554282, updated on 3-Apr-2024

    Summary

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    Official Symbol
    FAM72Cprovided by HGNC
    Official Full Name
    family with sequence similarity 72 member Cprovided by HGNC
    Primary source
    HGNC:HGNC:30602
    See related
    Ensembl:ENSG00000263513 MIM:616853; AllianceGenome:HGNC:30602
    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
    Summary
    Located in cytosol and intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in lymph node (RPKM 5.5), appendix (RPKM 2.9) and 19 other tissues See more
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    Genomic context

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    Location:
    1q21.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (143955287..143973564, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (143027308..143045585, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (149449857..149459550, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H2B histone pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:149398885-149399385 Neighboring gene uncharacterized LOC105371209 Neighboring gene H3.7 histone (putative) Neighboring gene ribosomal protein L22 pseudogene 5 Neighboring gene SLIT-ROBO Rho GTPase activating protein 2D (pseudogene) Neighboring gene immunoglobulin kappa variable 1/OR1-1 (pseudogene) Neighboring gene uncharacterized LOC105371207

    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. Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer. Vichas A, et al. Nat Commun, 2021 Aug 9. PMID 34373451, Free PMC Article
    3. 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

    What's a GeneRIF?
    1. 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

    Gene Ontology Provided by GOA

    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 FAM72C
    Names
    RP5-998N21.9

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001287385.2 → NP_001274314.1  protein FAM72C isoform 1

      See identical proteins and their annotated locations for NP_001274314.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC246680
      Consensus CDS
      CCDS72850.1
      UniProtKB/Swiss-Prot
      H0Y354
      UniProtKB/TrEMBL
      B2RPQ4
      Related
      ENSP00000463032.1, ENST00000584486.6
      Conserved Domains (1) summary
      pfam14976
      Location:6 → 149
      FAM72; FAM72 protein

    2. NM_001346067.2 → NP_001332996.1  protein FAM72C 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 has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC246680
      UniProtKB/TrEMBL
      A0A087X1Y7
      Conserved Domains (1) summary
      pfam14976
      Location:49 → 149
      FAM72; FAM72 protein

    3. NM_001346068.2 → NP_001332997.1  protein FAM72C isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC246680
      Conserved Domains (1) summary
      pfam14976
      Location:6 → 118
      FAM72; FAM72 protein

    4. NM_001346070.2 → NP_001332999.1  protein FAM72C isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (4) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC246680
      UniProtKB/TrEMBL
      Q5QP12

    5. NM_001346071.2 → NP_001333000.1  protein FAM72C isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (5) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC246680
      Consensus CDS
      CCDS86008.1
      UniProtKB/TrEMBL
      A0A087WSW5, A0A087WZP4
      Related
      ENSP00000358174.4, ENST00000369175.4
      Conserved Domains (1) summary
      pfam14976
      Location:6 → 76
      FAM72; FAM72 protein

    RNA

    1. NR_144349.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) 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)
      AC246680

    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
      143955287..143973564 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047424428.1 → XP_047280384.1  protein FAM72C isoform X1

      UniProtKB/Swiss-Prot
      H0Y354

    2. XM_047424431.1 → XP_047280387.1  protein FAM72C isoform X3

    3. XM_047424429.1 → XP_047280385.1  protein FAM72C isoform X2

    4. XM_047424432.1 → XP_047280388.1  protein FAM72C isoform X4

    5. XM_047424433.1 → XP_047280389.1  protein FAM72C isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      143027308..143045585 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337521.1 → XP_054193496.1  protein FAM72C isoform X1

      UniProtKB/Swiss-Prot
      H0Y354

    2. XM_054337523.1 → XP_054193498.1  protein FAM72C isoform X3

    3. XM_054337522.1 → XP_054193497.1  protein FAM72C isoform X2

    4. XM_054337524.1 → XP_054193499.1  protein FAM72C isoform X4

    5. XM_054337525.1 → XP_054193500.1  protein FAM72C isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    H0Y354.2 GenPept UniProtKB/Swiss-Prot:H0Y354

    Gene LinkOut

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