Property Summary

NCBI Gene PubMed Count 9
PubMed Score 1.03
PubTator Score 2.84

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
ependymoma 1.200 0.030
osteosarcoma 1.057 0.046
Atopic dermatitis -1.100 0.000
atypical teratoid/rhabdoid tumor 1.400 0.000
sonic hedgehog group medulloblastoma 1.500 0.000
aldosterone-producing adenoma -1.059 0.011
lung carcinoma 1.200 0.000
ductal carcinoma in situ 1.100 0.004
ovarian cancer 1.100 0.001

Synonym

Accession Q96NH3 Q5SZD6 Q5SZM6 Q6ZMY4 Q6ZUR7 Q8NB47
Symbols BROMI
C6orf170
C6orf171
bA57L9.1
bA301B7.2
dJ310J6.1

Gene

Gene RIF (5)

PMID Text
24285566 study identified 2 cases with a severe ciliopathy phenotype consistent with oro-facio-digital syndrome type IX; the autozygome of each index harbored a single truncating variant and the affected genes (SCLT1 and TBC1D32/C6orf170) have roles in centrosomal biology and ciliogenesis; findings suggest a role of SCLT1 and TBC1D32 in ciliopathy pathogenesis
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20159594 Studies in mouse and zebrafish implicate that TBC1D32 is involved in sonic hedgehog signaling.
19913121 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MAHFSSEDQAMLQAMLRRLFQSVKEKITGAPSLECAEEILLHLEETDENFHNYEFVKYLRQHIGNTLGSM      1 - 70
IEEEMEKCTSDRNQGEECGYDTVVQQVTKRTQESKEYKEMMHYLKNIMIAVVESMINKFEEDETRNQERQ     71 - 140
KKIQKEKSHSYRTDNCSDSDSSLNQSYKFCQGKLQLILDQLDPGQPKEVRYEALQTLCSAPPSDVLNCEN    141 - 210
WTTLCEKLTVSLSDPDPVFSDRILKFCAQTFLLSPLHMTKEIYTSLAKYLESYFLSRENHIPTLSAGVDI    211 - 280
TNPNMTRLLKKVRLLNEYQKEAPSFWIRHPEKYMEEIVESTLSLLTVKHNQSHVVSQKILDPIYFFALVD    281 - 350
TKAVWFKKWMHAHYSRTTVLRLLETKYKSLVTTAIQQCVQYFEMCKTRKADETLGHSKHCRNKQKTFYYL    351 - 420
GQELQYIYFIHSLCLLGRLLIYKQGRKLFPIKLKNKKGLVSLIDLLVLFTQLIYYSPSCPKMTSAAHSEN    421 - 490
YSPASMVTEVLWILSDQKECAVECLYNNIVIETLLQPIHNLMKGNEASPNCSETALIHIAGILARIASVE    491 - 560
EGLILLLYGANMNSSEESPTGAHIIAQFSKKLLDEDISIFSGSEMLPVVKGAFISVCRHIYSTCEGLQVL    561 - 630
ITYNLHESIAKAWKKTSLLSERIPTPVEGSDSVSSVSQESQNIMAWEDNLLDDLLHFAATPKGLLLLQRT    631 - 700
GAINECVTFIFNRYAKKLQVSRHKKFGYGVLVTRVASTAAGGIALKKSGFINELITELWSNLEYGRDDVR    701 - 770
VTHPRTTPVDPIDRSCQKSFLALVNLLSYPAIYELVRNQDLPNKTEYSLREVPTCVIDIIDRLIILNSEA    771 - 840
KIRSLFNYEQSHIFGLRDFIIDGLSVERNHVLVRINLVGGPLERILPPRLLEKSDNPYPWPMFSSYPLPN    841 - 910
CYLSDITRNAGIKQDNDLDKLLLCLKISDKQTEWIENCQRQFCKMMKAKPDIISGEALIELLEKFVLHLT    911 - 980
ESPSECYFPSVEYTATDANVKNESLSSVQQLGIKMTVRYGKFLSLLKDGAENDLTWVLKHCERFLKQQQT    981 - 1050
SIKSSLLCLQGNYAGHDWFVSSLFMIMLGDKEKTFQFLHQFSRLLTSAFLWLPRLHISSYLPNDTVESGI   1051 - 1120
HPVYFCSTHYIEMLLKAELPLVFSAFHMSGFAPSQICLQWITQCFWNYLDWIEICHYIATCVFLGPDYQV   1121 - 1190
YICIAVFKHLQQDILQHTQTQDLQVFLKEEALHGFRVSDYFEYMEILEQNYRTVLLRDMRNIRLQST      1191 - 1257
//

Text Mined References (9)

PMID Year Title
24285566 2014 Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20159594 2010 Broad-minded links cell cycle-related kinase to cilia assembly and hedgehog signal transduction.
20125193 2010 Common genetic variation and performance on standardized cognitive tests.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14574404 2003 The DNA sequence and analysis of human chromosome 6.