TMEM240 (transmembrane protein 240)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
339453
Gene name Gene Name - the full gene name approved by the HGNC.
Transmembrane protein 240
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TMEM240
Synonyms (NCBI Gene) Gene synonyms aliases
C1orf70, SCA21
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.33
Summary Summary of gene provided in NCBI Entrez 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]
SNPs SNP information provided by dbSNP.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616101 25186 ENSG00000205090
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Spinocerebellar Ataxia spinocerebellar ataxia type 21 rs606231451, rs606231452 N/A
Show/Hide Text Mining Associations (16)
Associations from Text Mining Disease 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