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  5. C2 calcium-dependent domain-containing protein 4A

Tdark C2 calcium-dependent domain-containing protein 4A

May be involved in inflammatory process. May regulate cell architecture and adhesion.

 Comments

Property Summary

NCBI Gene PubMed Count 9
PubMed Score 2.85
PubTator Score 2.58

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (14)

Disease Z-score Confidence
Acquired metabolic disease 267 2.0
Breast cancer 3,094
Diabetes Mellitus, Non-Insulin-Dependent 157
Endometriosis 535
Type 2 diabetes mellitus 189 2.0
active Crohn's disease 918
ductal carcinoma in situ 1,745
head and neck cancer 270
intraductal papillary-mucinous carcinoma... 2,988 
intraductal papillary-mucinous neoplasm ... 3,289 
non-small cell lung cancer 2,798
pituitary cancer 1,972
psoriasis 6,685
ulcerative colitis 2,087

Expression

  Differential Expression (11)

Disease log2 FC p
non-small cell lung cancer 1.271 0.000
intraductal papillary-mucinous carcinoma... 3.500 0.000
intraductal papillary-mucinous neoplasm ... 2.800 0.004
active Crohn's disease 4.110 0.007
ulcerative colitis 4.000 0.000
Endometriosis -2.284 0.017
Breast cancer 1.500 0.004
ductal carcinoma in situ 1.500 0.025
pituitary cancer -3.700 0.000
head and neck cancer 1.600 0.000
psoriasis 1.500 0.000

Synonym

Accession Q8NCU7
Symbols NLF1
FAM148A

Gene

C2CD4A

PANTHER Protein Class (2)

 GO Function (2)

 GO Component (2)

 Compartment GO Term (13)

Pathway (1)

 UniProt Keyword (3)

Gene RIF (4)

PMID Text
23522043 An endoplasmic reticulum protein, NLF-1, delivers a sodium leak channel critical for rhythmic locomotion.
20818381 Single nucleotide polymorphism in C2CD4A is associated with type 2 diabetes.
20818381 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
15527968 NLF1 may play a role in regulating genes which control cellular architecture.

AA Sequence 

MWCLERLRLGPECLRRSGDWLLPGRARGAKSRTTAACANVLTPDRIPEFCIPPRLMPRLALAALRNSWVE      1 - 70
EAGMDEGAGRTDWDPRSQAALSLPHLPRVRTAYGFCALLESPHTRRKESLLLGGPPAPRPRAHTYGGGGG     71 - 140
PDALLGTLRVPRAPGPATPAAPGCPRPPQDALARRPRGCRLLRVPDGLLSRALRAGRSRRLTRVRSVSSG    141 - 210
NEDKERRAGSQSPARAPSTSPPSSRVPFPERLEAEGTVALGRAGDALRLAAEYCPGTGRLRLRLLRAESP    211 - 280
AGGAPGPRAVSCRLSLVLRPPGTALRQCSTVVGRSRKASFDQDFCFDGLSEDEVRRLAVRVKARDEGRGR    281 - 350
ERGRLLGQGELSLGALLLL                                                       351 - 369
//

Text Mined References (10)

PMID Year Title
24509480 2014 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
23945395 2014 Genome-wide association study identifies three novel loci for type 2 diabetes.
23522043 2013 NLF-1 delivers a sodium leak channel to regulate neuronal excitability and modulate rhythmic locomotion.
21873549 2011 Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.
21799836 2011 A genome-wide association study confirms previously reported loci for type 2 diabetes in Han Chinese.
20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.
20818381 2010 A genome-wide association study in the Japanese population identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B.
16572171 2006 Analysis of the DNA sequence and duplication history of human chromosome 15.
16341674 2005 Transcriptome analysis of human gastric cancer.
15527968 2004 A novel gene family induced by acute inflammation in endothelial cells.