Property Summary

NCBI Gene PubMed Count 17
PubMed Score 19.07
PubTator Score 19.03

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (14)

Disease log2 FC p
ependymoma 1.100 0.000
glioblastoma 1.900 0.000
medulloblastoma 1.500 0.000
atypical teratoid / rhabdoid tumor 1.600 0.000
medulloblastoma, large-cell 2.000 0.000
primitive neuroectodermal tumor 1.500 0.000
lung cancer 1.800 0.000
Breast cancer 6.100 0.022
pediatric high grade glioma 1.500 0.000
non primary Sjogren syndrome sicca -1.100 0.017
Pick disease -1.300 0.000
progressive supranuclear palsy -1.200 0.039
invasive ductal carcinoma 1.100 0.010
ovarian cancer -1.400 0.000

Synonym

Accession Q5H9S7 B2RTW5 Q53TN3 Q9H908
Symbols C2orf37

Gene

 GO Process (1)

Gene RIF (8)

PMID Text
26440089 two novel frameshift mutations in C2orf37 present in the compound heterozygous state in an Indian family with Woodhouse-Sakati syndrome, is reported.
24015686 Direct sequencing of the C2orf37 gene revealed that the c.436delC (p.Ala147Hisfs*9) mutation was present in a homozygous state in all affected siblings and in a heterozygous state in the parents and a healthy sister.
23418071 The results of this study demonistrated that the syndrome of deafness-dystonia is cause by mutation of DCAF17.
21964978 Mutations in C2orf37 are responsible for Woodhouse-Sakati syndrome.
21963443 Pakistani family with clinical manifestations of Woodhouse-Sakati Syndrome; DNA sequence analysis revealed a novel splice site mutation (c.321 + 1 G > A) in the gene C2orf37, mapped on chromosomes 2q22.3-2q35
21044051 A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome
20507343 C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients
19026396 Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.

AA Sequence

MGPTRKPNVCSRLSRRALGCFSRDAGVVQRTNLGILRALVCQESTKFKNVWTTHSRSPIAYERGRIYFDN      1 - 70
YRRCVSSVASEPRKLYEMPKCSKSEKIEDALLWECPVGDILPNSSDYKSSLIALTAHNWLLRISATTGKI     71 - 140
LEKIYLAPYCKFRYLSWDTPQEVIAVKSAQNRGSAVARQAGIQQHVLLYLAVFRVLPFSLVGILEINKKI    141 - 210
FGNVTDATLSHGILIVMYSSGLVRLYSFQTIAEQFMQQKLDLGCACRWGGTTGTVGEAPFGIPCNIKITD    211 - 280
MPPLLFEVSSLENAFQIGGHPWHYIVTPNKKKQKGVFHICALKDNSLAKNGIQEMDCCSLESDWIYFHPD    281 - 350
ASGRIIHVGPNQVKVLKLTEIENNSSQHQISEDFVILANRENHKNENVLTVTASGRVVKKSFNLLDDDPE    351 - 420
QETFKIVDYEDELDLLSVVAVTQIDAEGKAHLDFHCNEYGTLLKSIPLVESWDVTYSHEVYFDRDLVLHI    421 - 490
EQKPNRVFSCYVYQMICDTGEEEETINRSC                                            491 - 520
//

Text Mined References (17)

PMID Year Title
26440089 2015 Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome.
24015686 Alopecia and hypotrichosis as characteristic findings in Woodhouse-Sakati syndrome: report of a family with mutation in the C2orf37 gene.
23418071 2013 The syndrome of deafness-dystonia: clinical and genetic heterogeneity.
21964978 2011 Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene.
21963443 2011 A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin.
21304230 2011 Woodhouse-Sakati syndrome in an Israeli-Arab family presenting with youth-onset diabetes mellitus and delayed puberty.
21044051 2010 A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome.
20507343 2010 C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.
19026396 2008 Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
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