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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
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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

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