Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TMEM252 Gene

Aliases for TMEM252 Gene

  • Transmembrane Protein 252 2 3 5
  • C9orf71 3 4
  • Chromosome 9 Open Reading Frame 71 2
  • Transmembrane Protein C9orf71 3

External Ids for TMEM252 Gene

Previous HGNC Symbols for TMEM252 Gene

  • C9orf71

Previous GeneCards Identifiers for TMEM252 Gene

  • GC09M071152

Summaries for TMEM252 Gene

GeneCards Summary for TMEM252 Gene

TMEM252 (Transmembrane Protein 252) is a Protein Coding 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 TMEM252 Gene

Genomics for TMEM252 Gene

Regulatory Elements for TMEM252 Gene

Enhancers for TMEM252 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G068514 1.3 Ensembl ENCODE dbSUPER 12.6 +25.2 25243 1.4 GTF2F1 PKNOX1 JUN CEBPG RFX5 CTBP1 GATA3 FOS RCOR1 MAFK ENSG00000226337 TMEM252 PRKACG ENSG00000226904 GC09M068509
GH09G068508 0.9 dbSUPER 17.6 +31.9 31914 0.9 HDAC1 PKNOX1 FOXA2 ARNT RAD21 YY1 TCF12 GATA2 NCOA1 NR2F2 TMEM252 ENSG00000226337 PRKACG GC09M068509 ENSG00000229019
GH09G068499 1.3 Ensembl ENCODE dbSUPER 11.5 +40.3 40300 2.6 FOXA2 JUN ZNF384 CEBPG CTBP1 GATA3 SCRT2 FOSL2 FOS TCF7L2 PGM5 TMEM252 ENSG00000226337 PRKACG GC09M068509 ENSG00000229019
GH09G068530 1.4 Ensembl ENCODE dbSUPER 9.8 +9.5 9501 2.4 ELF3 RAD21 RARA YY1 TCF12 GATA2 ETV6 FOS MIXL1 CEBPB PRKACG TMEM252 ENSG00000226337 GC09M068509
GH09G068505 1.2 Ensembl ENCODE dbSUPER 11.4 +34.7 34711 0.9 FOXA2 RBBP5 CHD7 FOXM1 POLR2A HOMEZ EZH2 SRF HLF ZNF407 TMEM252 ENSG00000226337 GC09M068509 ENSG00000229019
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMEM252 on UCSC Golden Path with GeneCards custom track

Genomic Location for TMEM252 Gene

Chromosome:
9
Start:
68,530,662 bp from pter
End:
68,540,886 bp from pter
Size:
10,225 bases
Orientation:
Minus strand

Genomic View for TMEM252 Gene

Genes around TMEM252 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM252 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM252 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM252 Gene

Proteins for TMEM252 Gene

  • Protein details for TMEM252 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N6L7-TM252_HUMAN
    Recommended name:
    Transmembrane protein 252
    Protein Accession:
    Q8N6L7

    Protein attributes for TMEM252 Gene

    Size:
    170 amino acids
    Molecular mass:
    18703 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TMEM252 Gene

Post-translational modifications for TMEM252 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TMEM252 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TMEM252 Gene

Domains & Families for TMEM252 Gene

Protein Domains for TMEM252 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM252 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TMEM252: view

No data available for Gene Families and UniProtKB/Swiss-Prot for TMEM252 Gene

Function for TMEM252 Gene

Phenotypes for TMEM252 Gene

genes like me logo Genes that share phenotypes with TMEM252: view

Animal Model Products

CRISPR Products

miRNA for TMEM252 Gene

miRTarBase miRNAs that target TMEM252

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM252 Gene

Localization for TMEM252 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM252 Gene

Membrane; Multi-pass 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 TMEM252 gene
Compartment Confidence
plasma membrane 3
extracellular 1

Gene Ontology (GO) - Cellular Components for TMEM252 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM252: view

Pathways & Interactions for TMEM252 Gene

SuperPathways for TMEM252 Gene

No Data Available

Interacting Proteins for TMEM252 Gene

Selected Interacting proteins: Q8N6L7-TM252_HUMAN for TMEM252 Gene via IID

Symbol External ID(s) Details
BAG3

Gene Ontology (GO) - Biological Process for TMEM252 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TMEM252 Gene

Transcripts for TMEM252 Gene

mRNA/cDNA for TMEM252 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(43) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TMEM252 Gene

Transmembrane protein 252:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM252 Gene

No ASD Table

Relevant External Links for TMEM252 Gene

GeneLoc Exon Structure for
TMEM252
ECgene alternative splicing isoforms for
TMEM252

Expression for TMEM252 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM252 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TMEM252 Gene

This gene is overexpressed in Kidney - Cortex (x15.1) and Colon - Sigmoid (x4.6).

Protein differential expression in normal tissues from HIPED for TMEM252 Gene

This gene is overexpressed in Urine (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TMEM252 Gene



Protein tissue co-expression partners for TMEM252 Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM252 Gene:

TMEM252

SOURCE GeneReport for Unigene cluster for TMEM252 Gene:

Hs.663056

Evidence on tissue expression from TISSUES for TMEM252 Gene

  • Intestine(4.2)
genes like me logo Genes that share expression patterns with TMEM252: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM252 Gene

Orthologs for TMEM252 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM252 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM252 34 35
  • 99.8 (n)
dog
(Canis familiaris)
Mammalia TMEM252 34 35
  • 79.02 (n)
cow
(Bos Taurus)
Mammalia LOC614257 34
  • 78.82 (n)
TMEM252 35
  • 65 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem252 34 16 35
  • 74.19 (n)
rat
(Rattus norvegicus)
Mammalia Tmem252 34
  • 71.95 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM252 35
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM252 35
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100859235 34
  • 53.79 (n)
TMEM252 35
  • 32 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM252 35
  • 38 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem252 34
  • 53.96 (n)
Species where no ortholog for TMEM252 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)
  • 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 TMEM252 Gene

ENSEMBL:
Gene Tree for TMEM252 (if available)
TreeFam:
Gene Tree for TMEM252 (if available)

Paralogs for TMEM252 Gene

No data available for Paralogs for TMEM252 Gene

Variants for TMEM252 Gene

Sequence variations from dbSNP and Humsavar for TMEM252 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000058032 -- 68,541,564(+) ATTCG(C/T)TTTAG intron-variant, upstream-variant-2KB
rs1000112910 -- 68,542,714(+) ATGCC(A/G)CAAGA intron-variant, upstream-variant-2KB
rs1001020448 -- 68,537,856(+) CGAGT(A/G)CTTAG intron-variant
rs1001554934 -- 68,537,626(+) GATGT(A/C)CTTCT intron-variant
rs1001751266 -- 68,539,274(+) GAGGT(C/T)TCTTG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for TMEM252 Gene

Variant ID Type Subtype PubMed ID
esv3620544 CNV gain 21293372
esv3891677 CNV gain 25118596
nsv1026962 CNV gain 25217958
nsv614546 CNV gain 21841781

Variation tolerance for TMEM252 Gene

Residual Variation Intolerance Score: 60.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.49; 10.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM252 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM252

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM252 Gene

Disorders for TMEM252 Gene

Relevant External Links for TMEM252

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM252

No disorders were found for TMEM252 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMEM252 Gene

Publications for TMEM252 Gene

  1. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  4. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. (PMID: 23824909) Chen Y. … Ge F. (Mol. Cell Proteomics 2013) 3 64

Products for TMEM252 Gene

Sources for TMEM252 Gene

Content
Loading form....