TMEM240 transmembrane protein 240 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMEM240provided by HGNC
Official Full Name: transmembrane protein 240provided by HGNC
Primary source: HGNC:HGNC:25186
See related: Ensembl:ENSG00000205090 MIM:616101; AllianceGenome:HGNC:25186
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SCA21; C1orf70
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]
Expression: Biased expression in brain (RPKM 2.8), endometrium (RPKM 1.2) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.33

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (1534778..1540624, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (969282..975128, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (1470158..1476004, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant.
Title: Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant.
Hypermethylation of TMEM240 predicts poor hormone therapy response and disease progression in breast cancer.
Title: Hypermethylation of TMEM240 predicts poor hormone therapy response and disease progression in breast cancer.
Hypermethylation and decreased expression of TMEM240 are potential early-onset biomarkers for colorectal cancer detection, poor prognosis, and early recurrence prediction.
Title: Hypermethylation and decreased expression of TMEM240 are potential early-onset biomarkers for colorectal cancer detection, poor prognosis, and early recurrence prediction.
Neural-specific distribution of transmembrane protein TMEM240 and formation of TMEM240-Body.
Title: Neural-specific distribution of transmembrane protein TMEM240 and formation of TMEM240-Body.
The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals.
Title: The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals.
SCA21 is a multisystem disorder with substantial extra-cerebellar involvement, but cognitive impairment is not an obligatory feature of the disease.
Title: The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature.
Observational study of genotype prevalence. (HuGE Navigator)
Title: Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.
A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1.
Title: A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1.
The causative mutation of spinocerebellar ataxia 21 is the transmembrane protein gene TMEM240
Title: TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Spinocerebellar ataxia type 21 MedGen: C1843891 OMIM: 607454 GeneReviews: Hereditary Ataxia Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

SHGC-74117 (e-PCR)
- UniSTS:47181

SHGC-74090 (e-PCR)
- UniSTS:20856

Gene Ontology Provided by GOA

Component	Evidence Code	Pubs
located_in TMEM240-body	IEA Inferred from Electronic Annotation more info
located_in cerebellar climbing fiber to Purkinje cell synapse	IEA Inferred from Electronic Annotation more info
located_in parallel fiber to Purkinje cell synapse	IEA Inferred from Electronic Annotation more info
located_in postsynaptic density membrane	IEA Inferred from Electronic Annotation more info
is_active_in synaptic membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in synaptic membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: transmembrane protein 240

Names: transmembrane protein C1orf70

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.