Property Summary

NCBI Gene PubMed Count 14
PubMed Score 89.89
PubTator Score 17.40

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count P-value
malignant mesothelioma 3163 3.45573786000493E-9
psoriasis 6685 1.42282531796841E-6
lung cancer 4473 9.57110414866766E-6
pilocytic astrocytoma 3086 1.95979736217182E-5
medulloblastoma, large-cell 6234 6.33476052172034E-5
atypical teratoid/rhabdoid tumor 1095 8.01041763678037E-5
intraductal papillary-mucinous adenoma (IPMA) 2956 1.09734828960279E-4
group 3 medulloblastoma 2254 2.25695376849193E-4
pediatric high grade glioma 2712 3.52142291840022E-4
intraductal papillary-mucinous carcinoma (IPMC) 2988 5.80406050486751E-4
Down syndrome 548 0.00151707899055128
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.00169372327617981
glioblastoma 5572 0.00629482902053868
primitive neuroectodermal tumor 3031 0.00683743647585681
cystic fibrosis 1670 0.010471466814306
subependymal giant cell astrocytoma 2287 0.0122359199291284
ductal carcinoma in situ 1745 0.0163810508338475
non primary Sjogren syndrome sicca 840 0.0254522262293128
fibroadenoma 557 0.0255076124990979
pancreatic ductal adenocarcinoma liver metastasis 1795 0.0343802244749812
Disease Target Count Z-score Confidence
Narcolepsy 69 3.233 1.6

Expression

Synonym

Accession Q9BUP0 B2RD83 E9PFH3 Q9BTF8 Q9H8I2 Q9HBQ0
Symbols SWS2
MST133
PP3051
MSTP133

Gene

PANTHER Protein Class (1)

  Ortholog (7)

Species Source
Chimp OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Cow OMA Inparanoid
Chicken OMA Inparanoid
Anole lizard OMA Inparanoid
Xenopus OMA Inparanoid

Gene RIF (3)

PMID Text
24861485 detection of methylation of PPP1R3C alone or in combination with EFHD1 in plasma DNA showed high sensitivity and specificity in CRC detection, and may be useful detection method for CRC, especially for early-stage CRCs.
20877624 Observational study of gene-disease association. (HuGE Navigator)
12270117 Cloning of novel mouse genes associated with neuronal function, including Efhd1.

AA Sequence

MASEELACKLERRLRREEAEESGPQLAPLGAPAPEPKPEPEPPARAPTASADAELSAQLSRRLDINEGAA      1 - 70
RPRRCRVFNPYTEFPEFSRRLIKDLESMFKLYDAGRDGFIDLMELKLMMEKLGAPQTHLGLKSMIKEVDE     71 - 140
DFDGKLSFREFLLIFHKAAAGELQEDSGLMALAKLSEIDVALEGVKGAKNFFEAKVQALSSASKFEAELK    141 - 210
AEQDERKREEEERRLRQAAFQKLKANFNT                                             211 - 239
//

Text Mined References (16)

PMID Year Title
26975899 2016 Identification of EFHD1 as a novel Ca(2+) sensor for mitoflash activation.
25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.
24861485 2014 Aberrant promoter methylation of PPP1R3C and EFHD1 in plasma of colorectal cancer patients.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22001757 2011 Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
21244694 2011 Fraternal twins: Swiprosin-1/EFhd2 and Swiprosin-2/EFhd1, two homologous EF-hand containing calcium binding adaptor proteins with distinct functions.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
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