Property Summary

NCBI Gene PubMed Count 35
PubMed Score 56.75
PubTator Score 55.92

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count
Propionic acidemia, type II 2
Disease Target Count P-value
lung carcinoma 2844 1.46900350690152E-31
non-small cell lung cancer 2798 4.35297813625069E-17
Breast cancer 3099 4.78873198586176E-13
lung adenocarcinoma 2714 1.39624426604828E-6
lung cancer 4473 5.1499293646271E-6
ovarian cancer 8492 7.6242676774312E-4
pancreatic ductal adenocarcinoma liver metastasis 1795 8.37281815123682E-4
Multiple myeloma 1328 0.0038643655112868
non primary Sjogren syndrome sicca 840 0.0115786984794885
Disease Target Count Z-score Confidence
Atherosclerosis 275 0.0 2.0
Disease Target Count Z-score Confidence
Metabolic acidosis 49 3.173 1.6
Methylmalonic acidemia 39 3.064 1.5
Disease Target Count
Propionic acidemia 20
Disease Target Count
Propionic acidemia type II 1

Expression

  Differential Expression (9)

Disease log2 FC p
Multiple myeloma 1.236 0.004
pancreatic ductal adenocarcinoma liver m... -1.744 0.001
non-small cell lung cancer 1.396 0.000
lung cancer 2.500 0.000
non primary Sjogren syndrome sicca 1.300 0.012
lung adenocarcinoma 1.152 0.000
lung carcinoma 1.600 0.000
Breast cancer 1.200 0.000
ovarian cancer 1.500 0.001

Synonym

Gene

PANTHER Protein Class (1)

  Ortholog (9)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid
C. elegans OMA EggNOG Inparanoid

 MGI Term (1)

 GWAS Trait (2)

Gene RIF (13)

PMID Text
25636094 Ten propionic acidemia mutations were confirmed, including 8 affecting the PCCA gene and 2 affecting the PCCB gene
24863100 The c.-4156_183+3713del mutation is the first known large deletion that affects the PCCB gene functions.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20725044 cryo-electron microscopy (cryo-EM) reconstruction at 15-A resolution
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20031576 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19936222 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
17051315 analysis of PCCA and PCCB mutations in propionic acidemia
12757933 pathogenicity of R67S, R165Q and G112D mutations in PCCB gene in propionic acidemia
More...

AA Sequence

MAAALRVAAVGARLSVLASGLRAAVRSLCSQATSVNERIENKRRTALLGGGQRRIDAQHKRGKLTARERI      1 - 70
SLLLDPGSFVESDMFVEHRCADFGMAADKNKFPGDSVVTGRGRINGRLVYVFSQDFTVFGGSLSGAHAQK     71 - 140
ICKIMDQAITVGAPVIGLNDSGGARIQEGVESLAGYADIFLRNVTASGVIPQISLIMGPCAGGAVYSPAL    141 - 210
TDFTFMVKDTSYLFITGPDVVKSVTNEDVTQEELGGAKTHTTMSGVAHRAFENDVDALCNLRDFFNYLPL    211 - 280
SSQDPAPVRECHDPSDRLVPELDTIVPLESTKAYNMVDIIHSVVDEREFFEIMPNYAKNIIVGFARMNGR    281 - 350
TVGIVGNQPKVASGCLDINSSVKGARFVRFCDAFNIPLITFVDVPGFLPGTAQEYGGIIRHGAKLLYAFA    351 - 420
EATVPKVTVITRKAYGGAYDVMSSKHLCGDTNYAWPTAEIAVMGAKGAVEIIFKGHENVEAAQAEYIEKF    421 - 490
ANPFPAAVRGFVDDIIQPSSTRARICCDLDVLASKKVQRPWRKHANIPL                         491 - 539
//

Text Mined References (40)

PMID Year Title
25636094 2015 [Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia].
25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.
24863100 2014 Two frequent mutations associated with the classic form of propionic acidemia in Taiwan.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23969696 2013 Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
21269460 2011 Initial characterization of the human central proteome.
20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20725044 2010 Crystal structure of the alpha(6)beta(6) holoenzyme of propionyl-coenzyme A carboxylase.
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.
More...