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    C3orf52 chromosome 3 open reading frame 52 [ Homo sapiens (human) ]

    Gene ID: 79669, updated on 28-Oct-2024

    Summary

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    Official Symbol
    C3orf52provided by HGNC
    Official Full Name
    chromosome 3 open reading frame 52provided by HGNC
    Primary source
    HGNC:HGNC:26255
    See related
    Ensembl:ENSG00000114529 MIM:611956; AllianceGenome:HGNC:26255
    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
    TTMP; HYPT15
    Summary
    Located in plasma membrane. Implicated in hypotrichosis 15. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in skin (RPKM 9.2), thyroid (RPKM 5.4) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C3orf52 in Genome Data Viewer
    Location:
    3q13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (112086389..112136381)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (114807509..114857494)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (111805236..111837057)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene riboflavin kinase-like Neighboring gene transmembrane serine protease 7 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:111804898-111805414 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:111820488-111821687 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20230 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20231 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20232 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20233 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20234 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20235 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:111845355-111845988 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20237 Neighboring gene microRNA 567 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:111855415-111855934 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:111855935-111856453 Neighboring gene germinal center associated signaling and motility Neighboring gene TGF-beta induced lncRNA Neighboring gene solute carrier family 9 member C1 Neighboring gene uncharacterized LOC124909407 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:111904045-111904638 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:111904639-111905231 Neighboring gene INAVA pseudogene 1 Neighboring gene ubiquitination factor E4A (UFD2 homolog, yeast) pseudogene

    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. Update of recent findings in genetic hair disorders. Hayashi R, et al. J Dermatol, 2022 Jan. PMID 34676598
    2. A novel homozygous frameshift variant in the C3orf52 gene underlying isolated hair loss in a consanguineous family. Shah K, et al. Eur J Dermatol, 2021 Jun 1. PMID 34309526
    3. Identification and in silico characterization of a novel gene: TPA induced trans-membrane protein. Chan CY, et al. Biochem Biophys Res Commun, 2005 Apr 8. PMID 15737651
    4. Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis. Malki L, et al. Genet Med, 2020 Jul. PMID 32336749, Free PMC Article
    5. Systematic identification of pathological lamin A interactors. Dittmer TA, et al. Mol Biol Cell, 2014 May. PMID 24623722, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A novel homozygous frameshift variant in the C3orf52 gene underlying isolated hair loss in a consanguineous family.
      Title: A novel homozygous frameshift variant in the C3orf52 gene underlying isolated hair loss in a consanguineous family.
    2. Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis.
      Title: Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hypotrichosis 15
    MedGen: C5774279 OMIM: 620177 GeneReviews: Not available
    		not available

    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

    • FLJ23186

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    TPA-induced transmembrane protein
    Names
    TPA induced trans-membrane protein
    novel endoplasmic reticulum transmembrane protein

    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_001171747.2 → NP_001165218.1  TPA-induced transmembrane protein isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) is the shorter transcript but encodes the longer isoform (1).
      Source sequence(s)
      AC128688, AK298076, AK303588
      Consensus CDS
      CCDS54620.1
      UniProtKB/TrEMBL
      H7C5J7
      Related
      ENSP00000399392.2, ENST00000431717.6

    2. NM_024616.3 → NP_078892.3  TPA-induced transmembrane protein isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has two additional coding exons in the 3' region, as compared to variant 1. The resulting isoform (2) is shorter and has a different C-terminus, as compared to isoform 1.
      Source sequence(s)
      AC024887, AC128688
      Consensus CDS
      CCDS46887.1
      UniProtKB/Swiss-Prot
      B4DNV2, B4E0Z2, Q5BVD1, Q96AJ4, Q9H5Q1
      Related
      ENSP00000264848.5, ENST00000264848.10

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      112086389..112136381
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_924171.4 RNA Sequence

    2. XR_007095726.1 RNA Sequence

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_019805492.1 Reference GRCh38.p14 PATCHES

      Range
      1..1500
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      114807509..114857494
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008486793.1 RNA Sequence

    2. XR_008486794.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5BVD1.2 GenPept UniProtKB/Swiss-Prot:Q5BVD1

    Gene LinkOut

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

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