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] See more...

Aliases for TMEM240 Gene

Aliases for TMEM240 Gene

  • Transmembrane Protein 240 2 3 4 5
  • C1orf70 3 4
  • Chromosome 1 Open Reading Frame 70 2
  • Transmembrane Protein C1orf70 3
  • Spinocerebellar Ataxia 21 2
  • SCA21 3

External Ids for TMEM240 Gene

Previous HGNC Symbols for TMEM240 Gene

  • C1orf70
  • SCA21

Previous GeneCards Identifiers for TMEM240 Gene

  • GC01M001470

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 and Spinocerebellar Ataxia, Autosomal Recessive 21.

Additional gene information for TMEM240 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM240 Gene

Genomics for TMEM240 Gene

GeneHancer (GH) Regulatory Elements for TMEM240 Gene

Promoters and enhancers for TMEM240 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
GH01J001539 Promoter/Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas 750.6 +0.5 487 2.7 MNT ZNF157 USF1 SIN3A BACH1 REST POLR2A TMEM240 ATAD3B SSU72 ENSG00000272512 L13714-001
GH01J001543 Enhancer 0.3 Ensembl 750.6 -1.5 -1477 0.2 PRDM1 TMEM240 piR-35924 SSU72
GH01J001304 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 24.9 +233.8 233801 7.6 ZNF785 ZNF24 ZBTB40 RBPJ SMARCE1 POLR2A CTBP1 USF2 CREB1 MYC PUSL1 ACAP3 lnc-INTS11-1 ATAD3B INTS11 ENSG00000240731 TMEM240 LINC00115 SLC35E2A CCNL2
GH01J001775 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 16.1 -238.9 -238902 8.6 ZNF785 ZNF24 ZBTB40 SP1 CTCF FOXA1 SMARCE1 RBPJ POLR2A USF2 NADK lnc-NADK-1 CCNL2 ENSG00000269737 ATAD3B CDK11A INTS11 SDF4 ENSG00000230092 ENSG00000240731
GH01J001115 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 24.3 +424.5 424523 2.6 ZBTB40 SREBF1 SIX5 CREB1 HCFC1 MYC NFYC ELF1 L3MBTL2 MAX C1orf159 lnc-C1orf159-1 TMEM240 ENSG00000230092 ENSG00000240731 SDF4 GABRD INTS11 CDK11A ATAD3B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMEM240 on UCSC Golden Path with GeneCards custom track

Genomic Locations for TMEM240 Gene

Genomic Locations for TMEM240 Gene
chr1:1,534,778-1,540,624
(GRCh38/hg38)
Size:
5,847 bases
Orientation:
Minus strand
chr1:1,470,158-1,475,833
(GRCh37/hg19)
Size:
5,676 bases
Orientation:
Minus strand

Genomic View for TMEM240 Gene

Genes around TMEM240 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM240 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM240 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

neXtProt entry for TMEM240 Gene

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 & Families for TMEM240 Gene

Gene Families for TMEM240 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for TMEM240 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM240 Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protein C1orf70 (CA070_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5SV17

UniProtKB/Swiss-Prot:

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

Function for TMEM240 Gene

Phenotypes From GWAS Catalog for TMEM240 Gene

Phenotypes for TMEM240 Gene

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

Human Phenotype Ontology for TMEM240 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for TMEM240 Gene

miRTarBase miRNAs that target TMEM240

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM240

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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.

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 TMEM240 gene
Compartment Confidence
plasma membrane 4
extracellular 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for TMEM240 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
GO:0045202 synapse IEA --
GO:0097060 synaptic membrane IBA,ISS --
genes like me logo Genes that share ontologies with TMEM240: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TMEM240 Gene

Pathways & Interactions for TMEM240 Gene

PathCards logo

SuperPathways for TMEM240 Gene

No Data Available

Interacting Proteins for TMEM240 Gene

Selected Interacting proteins: Q5SV17-TM240_HUMAN for TMEM240 Gene via IID

Symbol External ID(s) Details
CYFIP1

Gene Ontology (GO) - Biological Process for TMEM240 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TMEM240 Gene

Drugs & Compounds for TMEM240 Gene

No Compound Related Data Available

Transcripts for TMEM240 Gene

mRNA/cDNA for TMEM240 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM240

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM240 Gene

Protein differential expression in normal tissues from HIPED for TMEM240 Gene

This gene is overexpressed in Frontal cortex (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TMEM240 Gene



Protein tissue co-expression partners for TMEM240 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TMEM240 Gene:

TMEM240

SOURCE GeneReport for Unigene cluster for TMEM240 Gene:

Hs.668654

Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM240 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
Limb:
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with TMEM240: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES 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
dog
(Canis familiaris)
Mammalia TMEM240 33 32
  • 95.76 (n)
OneToOne
cow
(Bos Taurus)
Mammalia C16H1orf70 33 32
  • 94.61 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem240 17 33 32
  • 94.41 (n)
rat
(Rattus norvegicus)
Mammalia Tmem240 32
  • 94.41 (n)
chicken
(Gallus gallus)
Aves TMEM240 33
  • 87 (a)
OneToOne
C1ORF70 32
  • 79.96 (n)
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 82 (a)
OneToMany
-- 33
  • 44 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii tmem240 33
  • 81 (a)
OneToMany
LOC568378 32
  • 76.69 (n)
TMEM240 (2 of 2) 33
  • 58 (a)
OneToMany
Species where no ortholog for TMEM240 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TMEM240: view image

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 Variation AA Info Type
rs1045410944 pathogenic, Spinocerebellar ataxia 21 1,535,619(-) C/G/T coding_sequence_variant, missense_variant
rs546291208 Spinocerebellar ataxia 21 (SCA21) [MIM:607454] 1,535,436(-) C/G/T coding_sequence_variant, missense_variant
rs606231451 likely-pathogenic, pathogenic, Spinocerebellar ataxia 21, not provided, Spinocerebellar ataxia 21 (SCA21) [MIM:607454] 1,535,372(-) G/A coding_sequence_variant, missense_variant
rs606231452 pathogenic, Spinocerebellar ataxia 21 1,535,392(-) G/A/C coding_sequence_variant, stop_gained, synonymous_variant
rs606231453 pathogenic, Spinocerebellar ataxia 21, Spinocerebellar ataxia 21 (SCA21) [MIM:607454] 1,535,616(-) G/A coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM240 Gene

Variant ID Type Subtype PubMed ID
esv2758913 CNV gain+loss 17122850
esv3418946 CNV duplication 20981092
nsv1011818 CNV gain 25217958
nsv10161 CNV gain+loss 18304495
nsv1130940 CNV deletion 24896259
nsv482937 CNV loss 15286789
nsv545000 CNV loss 21841781
nsv950452 CNV deletion 24416366

Variation tolerance for TMEM240 Gene

Gene Damage Index Score: 1.51; 29.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM240 Gene

Human Gene Mutation Database (HGMD)
TMEM240
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM240

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM240 Gene

Disorders for TMEM240 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TMEM240 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via 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. {ECO:0000269 PubMed:25070513, ECO:0000269 PubMed:29053796}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TMEM240

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

No data available for Genatlas for TMEM240 Gene

Publications for TMEM240 Gene

  1. TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment. (PMID: 25070513) Delplanque J … Sablonnière B (Brain : a journal of neurology 2014) 2 3 4 56
  2. A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1. (PMID: 12402269) Vuillaume I … Sablonnière B (Annals of neurology 2002) 2 3 56
  3. Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. (PMID: 29053796) Nibbeling EAR … Verbeek DS (Brain : a journal of neurology 2017) 4 56
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 56
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 4 56

Products for TMEM240 Gene

Sources for TMEM240 Gene