TMEM240 - transmembrane protein 240 Gene

Also Known as SCA21; C1orf70

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 339453

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

TMEM240: TMEM240 family (1 - 173)

  • 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

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