TMEM240 - transmembrane protein 240 Gene

Homo sapiens

Also known as SCA21; C1orf70

Gene ID: 339453 | Gene type: protein coding

About TMEM240

Cytogenetic location: 1p36.33 Genomic coordinates (GRCh38): 1:1,534,778-1,540,624 (from NCBI)

This gene has 3 transcripts (splice variants), 211 orthologues and is associated with 3 phenotypes. Biased expression in brain (RPKM 2.8), endometrium (RPKM 1.2) and 13 other tissues.

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]

TMEM240 Products(1)

mRNA	Protein	Name
NM_001114748.2	NP_001108220.1	transmembrane protein 240

TMEM240 Protein Structure

TMEM240

0
100
173 a.a.

Protein Preferred Names

Protein Names

transmembrane protein 240

transmembrane protein C1orf70

Related Diseases

Diseases

Alias

Spinocerebellar Ataxia 21

Spinocerebellar Ataxia Type 21	SCA21
Ataxia, Spinocerebellar, Type 21

Cerebellar Ataxia Type 43

Sca43

Spinocerebellar Ataxia, Autosomal Recessive 21

SCAR21	Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Spinocerebellar Ataxia, Autosomal Recessive 21, With Hepatopathy	Cholestasis, Low Ggt, Acute Liver Failure, And Neurodegeneration Syndrome
Calfan	Autosomal Recessive Spinocerebellar Ataxia 21
Autosomal Recessive Spinocerebellar Ataxia 21 With Hepatopathy	Autosomal Recessive Spinocerebellar Ataxia Type 21
Spinocerebellar Ataxia, Autosomal Recessive, 21	Calfan Syndrome

Cerebellar Ataxia Type 47

Sca47

Cerebellar Ataxia Type 48

Sca48

Spinocerebellar Ataxia 25

Spinocerebellar Ataxia Type 25

SCA25

Hereditary Ataxia

Sca	Spinocerebellar Ataxia
Ataxias Hereditary	Ataxias, Hereditary

Spinocerebellar Ataxia, X-Linked 1

X-Linked Progressive Cerebellar Ataxia	SCAX1
Opcax	X-Linked Spinocerebellar Ataxia 1
Olivopontocerebellar Atrophy, X-Linked	Opca, X-Linked
Olivopontocerebellar Atrophy X-Linked	Opca X-Linked
Ataxia, Spinocerebellar, X-Linked Type 1

Boucher-Neuhauser Syndrome

Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome	BNHS
Spinocerebellar Ataxia, Hypogonadotropic Hypogonadism, And Chorioretinal Dystrophy	Boucher-Neuhäuser Syndrome
Chorioretinal Dystrophy, Spinocerebellar Ataxia, And Hypogonadotropic Hypogonadism	Ataxia - Hypogonadism - Choroidal Dystrophy
Chorioretinal Dystrophy, Spinocerebellar Ataxia And Hypogonadotropic Hypogonadism	Bns
Cerebellar Ataxia With Hypogonadism And Choroidal Dystrophy Syndrome	Boucher Neuhauser Syndrome

Spinocerebellar Ataxia 23

Spinocerebellar Ataxia Type 23	SCA23
Ataxia, Spinocerebellar, Type 23

Cerebellar Ataxia Type 41

Sca41

Spinocerebellar Ataxia, Autosomal Recessive 27

SCAR27	Autosomal Recessive Spinocerebellar Ataxia 27
Spinocerebellar Ataxia, Autosomal Recessive, 27

Spinocerebellar Ataxia 20

Spinocerebellar Ataxia Type 20	SCA20
Spinocerebellar Ataxia With Dysphonia	Spinocerebellar Ataxia With Spasmodic Cough
Chromosome 11q12 Duplication Syndrome, 260-Kb	Chromosome 11q12 Duplication Syndrome 260-Kb

Spinocerebellar Ataxia 14

Spinocerebellar Ataxia Type 14	SCA14
Ataxia, Spinocerebellar, Type 14

X-Linked Cerebellar Ataxia

Spinocerebellar Ataxia 18

Spinocerebellar Ataxia Type 18	SCA18
Smna	Sensorimotor Neuropathy With Ataxia, Autosomal Dominant
Sensorimotor Neuropathy With Ataxia Autosomal Dominant

Schindler Disease

Alpha-N-Acetylgalactosaminidase Deficiency	Naga Deficiency
Alpha-Galactosidase B Deficiency	Alpha-Galnac Deficiency, Schindler Type
Alpha-Naga Deficiency	Angiokeratoma Corporis Diffusum-Glycopeptiduria
Galb Deficiency	Kanzaki Disease
Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum	Neuroaxonal Dystrophy, Schindler Type
Neuronal Axonal Dystrophy, Schindler Type	Schindler Disease, Type I
Schindler Disease, Type Ii

Spinocerebellar Ataxia, X-Linked 5

SCAX5	X-Linked Spinocerebellar Ataxia 5
X-Linked Non Progressive Cerebellar Ataxia

Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis

SANDO	Mitochondrial Recessive Ataxia Syndrome
Spinocerebellar Ataxia With Epilepsy	Epilepsy, Progressive Myoclonic 5
Epm5	Miras
SCAE	Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions, Autosomal Recessive
Autosomal Recessive Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions	Progressive Myoclonic Epilepsy Type 5
Pme Type 5	Progressive Myoclonus Epilepsy Type 5
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Recessive Mitochondrial Ataxia Syndrome
Sensory Ataxic Neuropathy Dysarthria And Ophthalmoparesis	Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome
Mscae	Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Autosomal Recessive
Progressive Myoclonic Epilepsy With Sensory Ataxic Neuropathy	Epilepsy, Progressive Myoclonic, 5
Ataxia Neuropathy Spectrum

Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia	Adca
Pierre Marie Cerebellar Ataxia	Ataxia, Spinocerebellar
Sca	Autosomal Dominant Spinocerebellar Ataxia
Spinocerebellar Ataxias

Cerebellar Disease

Cerebellar Diseases	Cerebellar Dysfunction
Cerebellar Abnormality	Cerebellar Disorders

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14707	TMEM240 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	TMEM240	MGD	MGI:3648074
Bos taurus	TMEM240	VGNC	VGNC:36051
Rattus norvegicus	TMEM240	RGD	RGD:2318117
Canis familiaris	TMEM240	VGNC	VGNC:47548
Felis catus	TMEM240	VGNC	VGNC:66324

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