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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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See FAM72C in Genome Data Viewer
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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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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