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    TMEM52B transmembrane protein 52B [ Homo sapiens (human) ]

    Gene ID: 120939, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TMEM52Bprovided by HGNC
    Official Full Name
    transmembrane protein 52Bprovided by HGNC
    Primary source
    HGNC:HGNC:26438
    See related
    Ensembl:ENSG00000165685 AllianceGenome:HGNC:26438
    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
    C12orf59
    Summary
    Located in extracellular exosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward kidney (RPKM 46.9) See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM52B in Genome Data Viewer
    Location:
    12p13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (10170513..10191804)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (10057239..10078519)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (10323112..10344403)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369655 Neighboring gene heterogeneous nuclear ribonucleoprotein A/B pseudogene 1 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:10286337-10287157 Neighboring gene C-type lectin domain containing 7A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:10305885-10306388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5959 Neighboring gene MPRA-validated peak1568 silencer Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:10331989-10333188 Neighboring gene oxidized low density lipoprotein receptor 1 Neighboring gene MPRA-validated peak1569 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4236 Neighboring gene GABARAPL1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:10364713-10365255 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4237 Neighboring gene GABA type A receptor associated protein like 1 Neighboring gene killer cell lectin like receptor D1 Neighboring gene uncharacterized LOC124902875

    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. Down-regulation of C12orf59 is associated with a poor prognosis and VHL mutations in renal cell carcinoma. Xie J, et al. Oncotarget, 2016 Feb 9. PMID 26758419, Free PMC Article
    2. TMEM52B suppression promotes cancer cell survival and invasion through modulating E-cadherin stability and EGFR activity. Lee Y, et al. J Exp Clin Cancer Res, 2021 Mar 1. PMID 33641663, Free PMC Article
    3. Identification of proteins that interact with alpha A-crystallin using a human proteome microarray. Fan Q, et al. Mol Vis, 2014. PMID 24453475, Free PMC Article
    4. Assessment of community efforts to advance network-based prediction of protein-protein interactions. Wang XW, et al. Nat Commun, 2023 Mar 22. PMID 36949045, Free PMC Article
    5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TMEM52B suppression promotes cancer cell survival and invasion through modulating E-cadherin stability and EGFR activity.
      Title: TMEM52B suppression promotes cancer cell survival and invasion through modulating E-cadherin stability and EGFR activity.
    2. Study showed that C12orf59 was broadly expressed in normal human tissues with high expression levels in kidney while its expression is beyond detectable in a panel of cancer cell lines.
      Title: Down-regulation of C12orf59 is associated with a poor prognosis and VHL mutations in renal cell carcinoma.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ31166, MGC111385

    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 extracellular exosome HDA PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 52B

    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_001079815.2 → NP_001073283.1  transmembrane protein 52B isoform 2 precursor

      See identical proteins and their annotated locations for NP_001073283.1

      Status: VALIDATED

      Source sequence(s)
      AC024224, AC115676
      Consensus CDS
      CCDS66314.1
      UniProtKB/Swiss-Prot
      Q4KMG9, Q96NA7
      Related
      ENSP00000371348.2, ENST00000381923.6
      Conserved Domains (1) summary
      pfam14979
      Location:31 → 162
      TMEM52; Transmembrane 52

    2. NM_001384894.1 → NP_001371823.1  transmembrane protein 52B isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC024224, AC115676
      Consensus CDS
      CCDS66314.1
      UniProtKB/Swiss-Prot
      Q4KMG9, Q96NA7
      Conserved Domains (1) summary
      pfam14979
      Location:31 → 162
      TMEM52; Transmembrane 52

    3. NM_001384895.1 → NP_001371824.1  transmembrane protein 52B isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC024224, AC115676
      Consensus CDS
      CCDS66314.1
      UniProtKB/Swiss-Prot
      Q4KMG9, Q96NA7
      Conserved Domains (1) summary
      pfam14979
      Location:31 → 162
      TMEM52; Transmembrane 52

    4. NM_001384896.1 → NP_001371825.1  transmembrane protein 52B isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC115676
      Consensus CDS
      CCDS66314.1
      UniProtKB/Swiss-Prot
      Q4KMG9, Q96NA7
      Related
      ENSP00000445582.2, ENST00000543484.2
      Conserved Domains (1) summary
      pfam14979
      Location:31 → 162
      TMEM52; Transmembrane 52

    5. NM_001384897.1 → NP_001371826.1  transmembrane protein 52B isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AC115676
      Conserved Domains (1) summary
      pfam14979
      Location:34 → 149
      TMEM52; Transmembrane 52

    6. NM_001384898.1 → NP_001371827.1  transmembrane protein 52B isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC024224, AC115676
      Consensus CDS
      CCDS8619.1
      Conserved Domains (1) summary
      pfam14979
      Location:13 → 142
      TMEM52; Transmembrane 52

    7. NM_153022.4 → NP_694567.1  transmembrane protein 52B isoform 1

      See identical proteins and their annotated locations for NP_694567.1

      Status: VALIDATED

      Source sequence(s)
      AC115676, AY358845, BE301029
      Consensus CDS
      CCDS8619.1
      UniProtKB/Swiss-Prot
      Q4KMG9
      Related
      ENSP00000298530.3, ENST00000298530.7
      Conserved Domains (1) summary
      pfam14979
      Location:13 → 142
      TMEM52; Transmembrane 52

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      10170513..10191804
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      10057239..10078519
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q4KMG9.1 GenPept UniProtKB/Swiss-Prot:Q4KMG9

    Gene LinkOut

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

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