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Aliases for TMEM52B Gene

Aliases for TMEM52B Gene

  • Transmembrane Protein 52B 2 3 5
  • C12orf59 3 4
  • Chromosome 12 Open Reading Frame 59 2

External Ids for TMEM52B Gene

Previous HGNC Symbols for TMEM52B Gene

  • C12orf59

Previous GeneCards Identifiers for TMEM52B Gene

  • GC12P010323

Summaries for TMEM52B Gene

GeneCards Summary for TMEM52B Gene

TMEM52B (Transmembrane Protein 52B) is a Protein Coding gene.

Additional gene information for TMEM52B Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM52B Gene

Genomics for TMEM52B Gene

GeneHancer (GH) Regulatory Elements for TMEM52B Gene

Promoters and enhancers for TMEM52B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I010168 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 550.8 +0.1 122 3.5 JUN MAX CEBPB EP300 BRCA1 SP1 MAFF JUND GATA3 POLR2A OLR1 TMEM52B ENSG00000255958 GABARAPL1 CLEC7A
GH12I010178 Promoter/Enhancer 1.1 EPDnew ENCODE 550.4 +9.2 9168 1.7 STAT1 RNF2 JUN CEBPB EP300 JUND POLR2A STAT3 FOS TCF7L2 TMEM52B OLR1 GABARAPL1
GH12I010030 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 10.2 -139.0 -138973 2.7 STAT1 JUN MAFG BACH1 CBFA2T3 POLR2A GABPB1 NFE2 EMSY LOC102724020 CLEC9A CLEC7A CLEC12B TMEM52B OLR1 CLEC1A STYK1 LOC100421202
GH12I010182 Enhancer 0.8 Ensembl ENCODE 7.9 +12.2 12183 1.4 MAFF JUND POLR2A JUN STAT3 CEBPB FOSL2 FOS EP300 TCF7L2 OLR1 TMEM52B GABARAPL1
GH12I010027 Enhancer 0.6 Ensembl ENCODE 9.9 -142.7 -142741 1.2 POLR2A IKZF1 MAX CLEC7A CLEC12A-AS1 CLEC12A TMEM52B LINC02470 LOC728715 LOC102724020 GC12P010023
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TMEM52B on UCSC Golden Path with GeneCards custom track

Genomic Locations for TMEM52B Gene

Genomic Locations for TMEM52B Gene
chr12:10,170,542-10,191,804
(GRCh38/hg38)
Size:
21,263 bases
Orientation:
Plus strand
chr12:10,323,141-10,344,403
(GRCh37/hg19)

Genomic View for TMEM52B Gene

Genes around TMEM52B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM52B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM52B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM52B Gene

Proteins for TMEM52B Gene

  • Protein details for TMEM52B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q4KMG9-TM52B_HUMAN
    Recommended name:
    Transmembrane protein 52B
    Protein Accession:
    Q4KMG9
    Secondary Accessions:
    • Q96NA7

    Protein attributes for TMEM52B Gene

    Size:
    183 amino acids
    Molecular mass:
    20002 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TMEM52B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM52B Gene

Post-translational modifications for TMEM52B Gene

No Post-translational modifications

Other Protein References for TMEM52B Gene

No data available for DME Specific Peptides for TMEM52B Gene

Domains & Families for TMEM52B Gene

Gene Families for TMEM52B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for TMEM52B Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TMEM52B: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for TMEM52B Gene

Function for TMEM52B Gene

Gene Ontology (GO) - Molecular Function for TMEM52B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with TMEM52B: view
genes like me logo Genes that share phenotypes with TMEM52B: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TMEM52B Gene

Localization for TMEM52B Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM52B Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMEM52B gene
Compartment Confidence
extracellular 5
plasma membrane 3
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Focal adhesion sites (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMEM52B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome HDA,IDA 19056867
genes like me logo Genes that share ontologies with TMEM52B: view

Pathways & Interactions for TMEM52B Gene

SuperPathways for TMEM52B Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM52B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with TMEM52B: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM52B Gene

Drugs & Compounds for TMEM52B Gene

No Compound Related Data Available

Transcripts for TMEM52B Gene

Unigene Clusters for TMEM52B Gene

Transmembrane protein 52B:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM52B Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b
SP1:
SP2: -

Relevant External Links for TMEM52B Gene

GeneLoc Exon Structure for
TMEM52B
ECgene alternative splicing isoforms for
TMEM52B

Expression for TMEM52B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM52B Gene

mRNA differential expression in normal tissues according to GTEx for TMEM52B Gene

This gene is overexpressed in Kidney - Cortex (x43.7).

NURSA nuclear receptor signaling pathways regulating expression of TMEM52B Gene:

TMEM52B

SOURCE GeneReport for Unigene cluster for TMEM52B Gene:

Hs.226422

Evidence on tissue expression from TISSUES for TMEM52B Gene

  • Kidney(4.5)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with TMEM52B: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM52B Gene

Orthologs for TMEM52B Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM52B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM52B 33 34
  • 99.11 (n)
cow
(Bos Taurus)
Mammalia TMEM52B 33 34
  • 86.26 (n)
dog
(Canis familiaris)
Mammalia TMEM52B 33 34
  • 85.12 (n)
mouse
(Mus musculus)
Mammalia Tmem52b 33 16 34
  • 83.52 (n)
rat
(Rattus norvegicus)
Mammalia Tmem52b 33
  • 82.76 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM52B 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1H12ORF59 33
  • 62.65 (n)
TMEM52B 34
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM52B 34
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem52b 33
  • 57.42 (n)
Species where no ortholog for TMEM52B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for TMEM52B Gene

ENSEMBL:
Gene Tree for TMEM52B (if available)
TreeFam:
Gene Tree for TMEM52B (if available)

Paralogs for TMEM52B Gene

No data available for Paralogs for TMEM52B Gene

Variants for TMEM52B Gene

Sequence variations from dbSNP and Humsavar for TMEM52B Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000114217 -- 10,171,346(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000351781 -- 10,180,653(+) A/C intron_variant
rs1000392931 -- 10,168,850(+) A/C upstream_transcript_variant
rs1000690907 -- 10,180,600(+) A/G intron_variant
rs1000750203 -- 10,185,498(+) T/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM52B Gene

Variant ID Type Subtype PubMed ID
esv3580102 CNV loss 25503493
esv3628526 CNV loss 21293372
esv3628528 CNV loss 21293372

Variation tolerance for TMEM52B Gene

Residual Variation Intolerance Score: 86.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.20; 24.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM52B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM52B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM52B Gene

Disorders for TMEM52B Gene

Additional Disease Information for TMEM52B

No disorders were found for TMEM52B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMEM52B Gene

Publications for TMEM52B Gene

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. Down-regulation of C12orf59 is associated with a poor prognosis and VHL mutations in renal cell carcinoma. (PMID: 26758419) Xie J … Li Z (Oncotarget 2016) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for TMEM52B Gene

Sources for TMEM52B Gene

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