Property Summary

NCBI Gene PubMed Count 7
PubMed Score 7.45
PubTator Score 6.44

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis -1.100 0.000

Gene RIF (3)

PMID Text
25070513 The causative mutation of spinocerebellar ataxia 21 is the transmembrane protein gene TMEM240
15148151 Observational study of genotype prevalence. (HuGE Navigator)
12402269 A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1.

AA Sequence

MSMSANTMIFMILGASVVMAIACLMDMNALLDRFHNYILPHLRGEDRVCHCNCGRHHIHYVIPYDGDQSV      1 - 70
VDASENYFVTDSVTKQEIDLMLGLLLGFCISWFLVWMDGVLHCAVRAWRAGRRYDGSWTWLPKLCSLREL     71 - 140
GRRPHRPFEEAAGNMVHVKQKLYHNGHPSPRHL                                         141 - 173
//

Text Mined References (8)

PMID Year Title
25070513 2014 TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15148151 2004 Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12402269 2002 A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1.
11181995 2001 The sequence of the human genome.
11160961 2001 Clinical features and genetic analysis of a new form of spinocerebellar ataxia.