Property Summary

NCBI Gene PubMed Count 19
PubMed Score 24.36
PubTator Score 21.31

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count P-value
breast carcinoma 1614 1.32627329452236E-26
non-small cell lung cancer 2798 1.28189395063482E-15
lung adenocarcinoma 2714 1.28430219042909E-12
chronic lymphosyte leukemia 232 2.49053608546075E-11
Breast cancer 3099 4.98592379570238E-8
malignant mesothelioma 3163 2.95152283216683E-7
juvenile dermatomyositis 1189 5.98790950333139E-6
Duchenne muscular dystrophy 602 1.17889507250701E-5
lung cancer 4473 3.02812886993229E-5
tuberculosis 1563 4.90654891510283E-5
Pick disease 1893 8.3643967774331E-5
invasive ductal carcinoma 2950 9.38001218305679E-5
group 4 medulloblastoma 1875 1.78176729184154E-4
ovarian cancer 8492 3.068517053222E-4
osteosarcoma 7933 4.9132759583046E-4
cystic fibrosis 1670 7.74967580379279E-4
Down syndrome 548 9.1587237724226E-4
intraductal papillary-mucinous adenoma (IPMA) 2956 0.00106094049734423
primary Sjogren syndrome 789 0.00113989137496862
Amyotrophic Lateral Sclerosis 432 0.00265828105889376
ductal carcinoma in situ 1745 0.00296739875901973
primary pancreatic ductal adenocarcinoma 1271 0.00416824223038063
pancreatic cancer 2300 0.00579041399106983
glioblastoma 5572 0.00868799825090772
Rheumatoid Arthritis 1171 0.0137582480176596
ulcerative colitis 2087 0.014116484923994
astrocytoma 1493 0.0213138568566543
limb girdle muscular dystrophy 2I 56 0.0309945862248704
acute quadriplegic myopathy 1157 0.0405222513320824
colon cancer 1475 0.0425296837204462
adrenocortical carcinoma 1427 0.0456352651462967
chronic kidney disease 90 0.0476151962740118
aldosterone-producing adenoma 664 0.0490282779655057
Disease Target Count Z-score Confidence
sarcoidosis 368 0.0 1.0
Disease Target Count Z-score Confidence
Gastrointestinal stromal tumor 61 4.651 2.3

Expression

  Differential Expression (34)

Disease log2 FC p
Rheumatoid Arthritis 1.400 0.014
malignant mesothelioma -1.600 0.000
osteosarcoma 1.684 0.000
chronic lymphosyte leukemia -2.100 0.000
cystic fibrosis 1.860 0.001
astrocytoma 1.500 0.021
glioblastoma 1.300 0.009
ulcerative colitis -1.109 0.014
Duchenne muscular dystrophy 2.172 0.000
limb girdle muscular dystrophy 2I 1.275 0.031
juvenile dermatomyositis 1.507 0.000
Amyotrophic Lateral Sclerosis 1.394 0.003
acute quadriplegic myopathy 1.213 0.041
adrenocortical carcinoma -1.061 0.046
chronic kidney disease 1.200 0.048
tuberculosis 1.600 0.000
primary pancreatic ductal adenocarcinoma 1.305 0.004
non-small cell lung cancer -1.532 0.000
intraductal papillary-mucinous adenoma (... -2.500 0.001
lung cancer -3.300 0.000
colon cancer -2.500 0.043
sarcoidosis 1.100 0.004
group 4 medulloblastoma 1.600 0.000
primary Sjogren syndrome 2.100 0.001
aldosterone-producing adenoma -1.301 0.049
lung adenocarcinoma -1.500 0.000
breast carcinoma -1.200 0.000
Pick disease 1.400 0.000
Breast cancer -1.600 0.000
ductal carcinoma in situ -1.100 0.003
invasive ductal carcinoma -1.600 0.000
ovarian cancer 1.800 0.000
Down syndrome 1.300 0.001
pancreatic cancer 1.200 0.006

Synonym

Accession Q96CX2
Symbols PFET1
PFETIN
C13orf2

Gene

PANTHER Protein Class (1)

  Ortholog (8)

Species Source
Macaque OMA Inparanoid
Mouse OMA Inparanoid
Dog OMA Inparanoid
Cow OMA Inparanoid
Opossum OMA Inparanoid
Anole lizard OMA Inparanoid
Xenopus OMA Inparanoid
Zebrafish OMA Inparanoid

Gene RIF (8)

PMID Text
23996491 N-terminal domain of KCTD12 assumes an alpha/beta structure, whereas the C-terminal domain is predominantly characterized by a beta-structure.
23290008 KCTD12 is a useful and reliable biomarker for both the diagnosis and prognosis of gastrointestinal stromal tumor.
20386566 This study provided that kctd12 are associated with Bipolar I in the Han Chinese population.
20386566 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19336475 Observational study of gene-disease association. (HuGE Navigator)
18347171 Pfetin is a powerful prognostic marker for gastrointestinal stromal tumors.
18210030 Observational study of gene-disease association. (HuGE Navigator)
15357420 novel human gene, designated PFET1 (predominantly fetal expressed T1 domain) present in a variety of fetal organs, with highest expression levels in the cochlea and brain

AA Sequence

MALADSTRGLPNGGGGGGGSGSSSSSAEPPLFPDIVELNVGGQVYVTRRCTVVSVPDSLLWRMFTQQQPQ      1 - 70
ELARDSKGRFFLDRDGFLFRYILDYLRDLQLVLPDYFPERSRLQREAEYFELPELVRRLGAPQQPGPGPP     71 - 140
PSRRGVHKEGSLGDELLPLGYSEPEQQEGASAGAPSPTLELASRSPSGGAAGPLLTPSQSLDGSRRSGYI    141 - 210
TIGYRGSYTIGRDAQADAKFRRVARITVCGKTSLAKEVFGDTLNESRDPDRPPERYTSRYYLKFNFLEQA    211 - 280
FDKLSESGFHMVACSSTGTCAFASSTDQSEDKIWTSYTEYVFCRE                             281 - 325
//

Text Mined References (29)

PMID Year Title
25158072 2015 Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23996491 2013 A biophysical characterization of the folded domains of KCTD12: insights into interaction with the GABAB2 receptor.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23290008 2013 Use of potassium channel tetramerization domain-containing 12 as a biomarker for diagnosis and prognosis of gastrointestinal stromal tumor.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22681889 2012 The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21269460 2011 Initial characterization of the human central proteome.
20400944 2010 Native GABA(B) receptors are heteromultimers with a family of auxiliary subunits.
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