TMEM240 (transmembrane protein 240)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID 339453
Gene name Transmembrane protein 240
Gene symbol TMEM240
Synonyms (NCBI Gene)
C1orf70SCA21
Chromosome 1
Chromosome location 1p36.33
Summary 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]
SNPs SNP information provided by dbSNP.
7
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (7)
SNP ID Visualize variation Clinical significance Consequence
rs606231451 G>A Likely-pathogenic, pathogenic Coding sequence variant, missense variant
rs606231452 G>A,C Pathogenic Synonymous variant, coding sequence variant, stop gained
rs606231453 G>A Pathogenic Coding sequence variant, missense variant
rs606231454 G>A Pathogenic Coding sequence variant, missense variant
rs606231455 G>A Pathogenic Coding sequence variant, missense variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (10)
GO ID Ontology Definition Evidence Reference
GO:0005886 Component Plasma membrane IEA
GO:0016020 Component Membrane IEA
GO:0045202 Component Synapse IEA
GO:0097060 Component Synaptic membrane IBA
GO:0097060 Component Synaptic membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616101 25186 ENSG00000205090
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5SV17
Protein name Transmembrane protein 240
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15207 TMEM240 1 → 173 TMEM240 family Family
Sequence
Sequence length 173
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Spinocerebellar ataxia type 21 Likely pathogenic; Pathogenic rs2100695149, rs606231451, rs606231452 RCV001647208
RCV000148344
RCV000148345
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability Likely benign rs555582754 RCV005626271
Neurodevelopmental disorder Conflicting classifications of pathogenicity rs606231455 RCV001374896
TMEM240-related disorder Benign; Likely benign; Uncertain significance rs1106226, rs371009717, rs765411959, rs546208867, rs1026446550, rs2100695631, rs1642284101, rs755533123, rs187039783, rs114114317 RCV003975812
RCV003971312
RCV003903800
RCV003943688
RCV004741444
RCV003397279
RCV003411969
RCV003929308
RCV003940699
RCV003940737
RCV003950594
Show/Hide Text Mining Associations (16)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 32705938
Adenoma Associate 32398064
Autism Spectrum Disorder Associate 32705938
Breast Neoplasms Inhibit 35715741
Breast Neoplasms Associate 40691650
Cerebellar Ataxia Associate 26813285, 33851480
Cerebellar Diseases Associate 32705938
Cognition Disorders Associate 32705938
Colorectal Neoplasms Associate 23867710, 32398064
Developmental Disabilities Associate 32705938