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Aliases for TMEM250 Gene

Aliases for TMEM250 Gene

  • Transmembrane Protein 250 2 3
  • C9orf69 3 4 5
  • Chromosome 9 Open Reading Frame 69 2 5
  • Herpes Virus UL25-Binding Protein 3 4
  • Protein C9orf69 3

External Ids for TMEM250 Gene

Previous HGNC Symbols for TMEM250 Gene

  • C9orf69

Summaries for TMEM250 Gene

GeneCards Summary for TMEM250 Gene

TMEM250 (Transmembrane Protein 250) is a Protein Coding gene.

UniProtKB/Swiss-Prot for TMEM250 Gene

  • Plays a role in cell proliferation by promoting progression into S phase. Promotes human herpesvirus 1 (HHV-1) proliferation.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM250 Gene

Genomics for TMEM250 Gene

Regulatory Elements for TMEM250 Gene

Enhancers for TMEM250 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
GH09G136116 1.4 ENCODE dbSUPER 8.2 +0.1 106 4.7 HDGF PKNOX1 MLX CREB3L1 AGO1 ZFP64 ARID4B SIN3A DMAP1 YY1 NACC2 UBAC1 TMEM250 LOC105376323 PIR51204 GC09M136118
GH09G136105 1.4 ENCODE dbSUPER 7.8 +10.4 10385 5.9 HDGF PKNOX1 ARNT AGO1 SIN3A FEZF1 ZNF416 ZNF207 ZNF143 FOS SNAPC4 CCDC183-AS1 LOC105376323 TMEM250 SEC16A NACC2
GH09G136130 1.5 Ensembl ENCODE dbSUPER 5.6 -13.7 -13673 4.1 PKNOX1 AGO1 ARID4B GLI4 ZNF2 GLIS2 KLF7 ZNF202 SP3 ZNF610 SNHG7 LCNL1 TMEM250 LOC105376323 ENSG00000275329 LHX3
GH09G136103 1.2 Ensembl ENCODE dbSUPER 6.2 +14.6 14552 2.3 ZNF263 KLF1 NFIA NFIB AGO1 TEAD3 HIC1 ZFHX2 GLIS2 ZBTB33 TMEM250 NACC2 LOC105376323
GH09G136136 0.5 dbSUPER 7.9 -18.4 -18416 1.3 ZNF600 ZNF48 HNRNPL UBAC1 NACC2 TMEM250 ENSG00000275329 LHX3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMEM250 on UCSC Golden Path with GeneCards custom track

Promoters for TMEM250 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000242968 85 2001 HDGF PKNOX1 MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9

Genomic Location for TMEM250 Gene

Chromosome:
9
Start:
136,110,220 bp from pter
End:
136,118,885 bp from pter
Size:
8,666 bases
Orientation:
Minus strand

Genomic View for TMEM250 Gene

Genes around TMEM250 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM250 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM250 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM250 Gene

Proteins for TMEM250 Gene

  • Protein details for TMEM250 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    H0YL14-CI069_HUMAN
    Recommended name:
    Protein C9orf69
    Protein Accession:
    H0YL14

    Protein attributes for TMEM250 Gene

    Size:
    139 amino acids
    Molecular mass:
    16083 Da
    Quaternary structure:
    • Interacts with HHV-1 protein UL25; this interaction occurs in the course of a HHV-1 infection.

neXtProt entry for TMEM250 Gene

Post-translational modifications for TMEM250 Gene

No Post-translational modifications

Other Protein References for TMEM250 Gene

No data available for DME Specific Peptides for TMEM250 Gene

Domains & Families for TMEM250 Gene

Protein Domains for TMEM250 Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TMEM250: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for TMEM250 Gene

Function for TMEM250 Gene

Molecular function for TMEM250 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in cell proliferation by promoting progression into S phase. Promotes human herpesvirus 1 (HHV-1) proliferation.
UniProtKB/Swiss-Prot Induction:
Up-regulated upon HHV-1 infection.

Gene Ontology (GO) - Molecular Function for TMEM250 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21667337
genes like me logo Genes that share ontologies with TMEM250: view

Phenotypes for TMEM250 Gene

genes like me logo Genes that share phenotypes with TMEM250: view

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM250 Gene

Localization for TMEM250 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM250 Gene

Membrane; Multi-pass membrane protein. Nucleus. Cytoplasm. Note=Upon HHV-1 infection, accumulates arround the nuclear membrane and translocates into the nucleus.

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 TMEM250 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for TMEM250 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 21667337
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA,IEA 21667337
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM250: view

Pathways & Interactions for TMEM250 Gene

SuperPathways for TMEM250 Gene

No Data Available

Interacting Proteins for TMEM250 Gene

Gene Ontology (GO) - Biological Process for TMEM250 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0008284 positive regulation of cell proliferation IDA 21667337
GO:0016032 viral process IEA --
GO:0048524 positive regulation of viral process IDA 21667337
genes like me logo Genes that share ontologies with TMEM250: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM250 Gene

Drugs & Compounds for TMEM250 Gene

No Compound Related Data Available

Transcripts for TMEM250 Gene

mRNA/cDNA for TMEM250 Gene

(2) REFSEQ mRNAs :
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM250 Gene

No ASD Table

Relevant External Links for TMEM250 Gene

GeneLoc Exon Structure for
TMEM250
ECgene alternative splicing isoforms for
TMEM250

Expression for TMEM250 Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM250 Gene:

TMEM250

Evidence on tissue expression from TISSUES for TMEM250 Gene

  • Lung(4)
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , 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 TMEM250 Gene

Orthologs for TMEM250 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM250 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia C9orf69 35
  • 94 (a)
OneToOne
C11H9orf69 34
  • 91.37 (n)
dog
(Canis familiaris)
Mammalia C9orf69 35
  • 91 (a)
OneToOne
C9H9orf69 34
  • 87.77 (n)
rat
(Rattus norvegicus)
Mammalia RGD1564379 34
  • 89.93 (n)
mouse
(Mus musculus)
Mammalia C330006A16Rik 16 34
  • 89.45 (n)
chicken
(Gallus gallus)
Aves C17H9orf69 34
  • 76.02 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489629 34
  • 76.5 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100332331 34
  • 75.06 (n)
Species where no ortholog for TMEM250 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • 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)

Evolution for TMEM250 Gene

ENSEMBL:
Gene Tree for TMEM250 (if available)
TreeFam:
Gene Tree for TMEM250 (if available)

Paralogs for TMEM250 Gene

Pseudogenes.org Pseudogenes for TMEM250 Gene

genes like me logo Genes that share paralogs with TMEM250: view

No data available for Paralogs for TMEM250 Gene

Variants for TMEM250 Gene

Sequence variations from dbSNP and Humsavar for TMEM250 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000105977 -- 136,120,063(+) TGGGC(A/G)ACATA upstream-variant-2KB, utr-variant-3-prime
rs1000203128 -- 136,117,981(+) CAGAT(A/T)CAGCC intron-variant, upstream-variant-2KB
rs1000256877 -- 136,118,135(+) TTAAG(A/G)CCGGC intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000464037 -- 136,117,858(+) AGGCC(A/G)TTTAT intron-variant, upstream-variant-2KB
rs1000897080 -- 136,114,835(+) ACAGC(A/G)TGACT intron-variant, nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for TMEM250 Gene

Variant ID Type Subtype PubMed ID
dgv13000n54 CNV loss 21841781
dgv13001n54 CNV gain 21841781
dgv13002n54 CNV loss 21841781
dgv13003n54 CNV gain 21841781
esv24552 CNV loss 19812545
nsv466670 CNV gain 19166990
nsv509332 CNV insertion 20534489
nsv615946 CNV loss 21841781
nsv615954 CNV gain 21841781
nsv615955 CNV loss 21841781
nsv6762 CNV insertion 18451855
nsv825173 CNV gain 20364138
nsv831757 CNV loss 17160897
nsv951202 CNV deletion 24416366

Variation tolerance for TMEM250 Gene

Residual Variation Intolerance Score: 85.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.70; 14.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM250 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM250

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM250 Gene

Disorders for TMEM250 Gene

Relevant External Links for TMEM250

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM250

No disorders were found for TMEM250 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMEM250 Gene

Publications for TMEM250 Gene

  1. Host cell protein C9orf9 promotes viral proliferation via interaction with HSV-1 UL25 protein. (PMID: 21667337) Zhang Y. … Li Q.H. (Zhongguo Bing Du Xue 2011) 2 3 4 64
  2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 64
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 4 64
  5. 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) 4 64

Products for TMEM250 Gene

Sources for TMEM250 Gene

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