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Aliases for TMEM240 Gene

Aliases for TMEM240 Gene

  • Transmembrane Protein 240 2 3
  • C1orf70 3 4
  • Chromosome 1 Open Reading Frame 70 2
  • Transmembrane Protein C1orf70 3
  • SCA21 3

External Ids for TMEM240 Gene

Previous HGNC Symbols for TMEM240 Gene

  • C1orf70

Summaries for TMEM240 Gene

Entrez Gene Summary for TMEM240 Gene

  • This gene encodes a transmembrane-domain containing protein found in the brain and cerebellum. Mutations in this gene result in spinocerebellar ataxia 21. [provided by RefSeq, Dec 2014]

GeneCards Summary for TMEM240 Gene

TMEM240 (Transmembrane Protein 240) is a Protein Coding gene. Diseases associated with TMEM240 include spinocerebellar ataxia 21.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM240 Gene

Genomics for TMEM240 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TMEM240 Gene

Start:
1,534,778 bp from pter
End:
1,540,453 bp from pter
Size:
5,676 bases
Orientation:
Minus strand

Genomic View for TMEM240 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TMEM240 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM240 Gene

No data available for Regulatory Elements for TMEM240 Gene

Proteins for TMEM240 Gene

  • Protein details for TMEM240 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5SV17-TM240_HUMAN
    Recommended name:
    Transmembrane protein 240
    Protein Accession:
    Q5SV17
    Secondary Accessions:
    • B9EJG7

    Protein attributes for TMEM240 Gene

    Size:
    173 amino acids
    Molecular mass:
    19908 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAI22949.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for TMEM240 Gene

Proteomics data for TMEM240 Gene at MOPED

Post-translational modifications for TMEM240 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TMEM240 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TMEM240 Gene

Domains for TMEM240 Gene

Protein Domains for TMEM240 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q5SV17

UniProtKB/Swiss-Prot:

TM240_HUMAN :
  • Q5SV17
Family:
  • Belongs to the TMEM240 family.
genes like me logo Genes that share domains with TMEM240: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for TMEM240 Gene

Function for TMEM240 Gene

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TMEM240

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for TMEM240 Gene

Localization for TMEM240 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM240 Gene

Cell junction, synapse. Cell membrane; Multi-pass membrane protein.

Gene Ontology (GO) - Cellular Components for TMEM240 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
GO:0097060 synaptic membrane ISS --
genes like me logo Genes that share ontologies with TMEM240: view

No data available for Subcellular locations from COMPARTMENTS for TMEM240 Gene

Pathways for TMEM240 Gene

SuperPathways for TMEM240 Gene

No Data Available

Interacting Proteins for TMEM240 Gene

Gene Ontology (GO) - Biological Process for TMEM240 Gene

None

No data available for Pathways by source for TMEM240 Gene

Transcripts for TMEM240 Gene

mRNA/cDNA for TMEM240 Gene

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

Unigene Clusters for TMEM240 Gene

Transmembrane protein 240:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TMEM240

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for TMEM240
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM240 Gene

No ASD Table

Relevant External Links for TMEM240 Gene

GeneLoc Exon Structure for
TMEM240
ECgene alternative splicing isoforms for
TMEM240

Expression for TMEM240 Gene

mRNA expression in normal human tissues for TMEM240 Gene

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for TMEM240 Gene

SOURCE GeneReport for Unigene cluster for TMEM240 Gene Hs.668654

genes like me logo Genes that share expressions with TMEM240: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TMEM240 Gene

Orthologs for TMEM240 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM240 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia C16H1orf70 35
  • 94.61 (n)
  • 98.27 (a)
C16H1orf70 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM240 35
  • 95.76 (n)
  • 98.84 (a)
TMEM240 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem240 35
  • 94.41 (n)
  • 97.69 (a)
Tmem240 16
Tmem240 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem240 35
  • 94.41 (n)
  • 97.69 (a)
chicken
(Gallus gallus)
Aves C1ORF70 35
  • 79.96 (n)
  • 87.28 (a)
TMEM240 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 44 (a)
OneToMany
-- 36
  • 82 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii LOC568378 35
  • 76.69 (n)
  • 82.08 (a)
tmem240 36
  • 81 (a)
OneToMany
TMEM240 (2 of 2) 36
  • 58 (a)
OneToMany
Species with no ortholog for TMEM240:
  • 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TMEM240 Gene

ENSEMBL:
Gene Tree for TMEM240 (if available)
TreeFam:
Gene Tree for TMEM240 (if available)

Paralogs for TMEM240 Gene

No data available for Paralogs for TMEM240 Gene

Variants for TMEM240 Gene

Sequence variations from dbSNP and Humsavar for TMEM240 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs1106226 -- 1,535,512(-) CCCCC(C/T)GCAGA intron-variant
rs1571148 -- 1,537,160(+) AGGTG(G/T)CCCCT intron-variant
rs1571149 -- 1,538,787(+) GCCCC(A/C/G)CACCC intron-variant
rs1571150 -- 1,538,924(+) GTCCA(A/C)TTCCT intron-variant
rs3118505 -- 1,536,667(-) TTCCT(A/G)GGACA intron-variant

Relevant External Links for TMEM240 Gene

HapMap Linkage Disequilibrium report
TMEM240
Human Gene Mutation Database (HGMD)
TMEM240

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TMEM240 Gene

Disorders for TMEM240 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for TMEM240 Gene including...

Search for TMEM240 Gene in MalaCards »

UniProtKB/Swiss-Prot

TM240_HUMAN
  • Spinocerebellar ataxia 21 (SCA21) [MIM:607454]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA21 is characterized by onset in the first decades of life of slowly progressive relatively mild cerebellar ataxia associated with slight extrapyramidal features predominant in older patients and cognitive impairment predominant in younger patients. Note=The disease is caused by mutations affecting the gene represented in this entry. {ECO:0000269 PubMed:25070513}.
genes like me logo Genes that share disorders with TMEM240: view

Publications for TMEM240 Gene

  1. TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment. (PMID: 25070513) Delplanque J. … SablonniA"re B. (Brain 2014) 3 4
  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) 4
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 4
  4. The sequence of the human genome. (PMID: 11181995) Venter J.C. … Zhu X. (Science 2001) 3
  5. 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) 3

Products for TMEM240 Gene

Sources for TMEM240 Gene

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