Pulmonary Arterial Hypertension KnowledgeBase (PAHKB)
PAHKB
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

1499

Name

CTNNB1

Synonym

CTNNB|MRD19|armadillo;catenin (cadherin-associated protein), beta 1, 88kDa;CTNNB1;catenin (cadherin-associated protein), beta 1, 88kDa

Definition

catenin beta-1

Position

3p21

Gene Type

protein-coding

PAH Type

Description

PAH

"We observed linkage evidence in four regions: 3q22 ([median log of the odds (LOD) = 3.43]), 3p12 (median LOD) = 2.35), 2p22 (median LOD = 2.21), and 13q21 (median LOD = 2.09). When used in conjunction with the non-parametric bootstrap, our approach yields high-resolution to identify candidate gene regions containing putative BMPR2-interacting genes. Imputation of the disease model by LOD-score maximization indicates that the 3q22 locus alone predicts most FPAH cases in BMPR2 mutation carriers, providing strong evidence that BMPR2 and the 3q22 locus interact epistatically."
More detail of all Human literatures about CTNNB1

Pathways and Diseases

Pathway

Apoptosis;Reactome;REACT:578

Pathway

Cell junction organization;Reactome;REACT:20676

Pathway

Presenilin action in Notch and Wnt signaling;PID Curated;200052

Pathway

multi-step regulation of transcription by pitx2;PID BioCarta;100074

Pathway

Signaling events mediated by VEGFR1 and VEGFR2;PID Curated;200161

Pathway

Endometrial cancer;KEGG PATHWAY;hsa05213

Pathway

N-cadherin signaling events;PID Curated;200180

Pathway

Basal cell carcinoma;KEGG PATHWAY;hsa05217

Pathway

Beta-catenin phosphorylation cascade;PID Reactome;500311

Pathway

segmentation clock;PID BioCarta;100146

Pathway

Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met);PID Curated;200032

Pathway

trefoil factors initiate mucosal healing;PID BioCarta;100018

Pathway

Bacterial invasion of epithelial cells;KEGG PATHWAY;hsa05100

Pathway

Wnt signaling pathway;KEGG PATHWAY;hsa04310

Pathway

Melanogenesis;KEGG PATHWAY;hsa04916

Pathway

inactivation of gsk3 by akt causes accumulation of b-catenin in alveolar macrophages;PID BioCarta;100152

Pathway

Focal adhesion;KEGG PATHWAY;hsa04510

Pathway

TGF-beta receptor signaling;PID Curated;200195

Pathway

Signaling by Wnt;Reactome;REACT:11045

Pathway

Nectin adhesion pathway;PID Curated;200053

Pathway

Leukocyte transendothelial migration;KEGG PATHWAY;hsa04670

Pathway

cell to cell adhesion signaling;PID BioCarta;100208

Pathway

Colorectal cancer;KEGG PATHWAY;hsa05210

Pathway

CDC42 signaling events;PID Curated;200057

Pathway

Pathogenic Escherichia coli infection;KEGG PATHWAY;hsa05130

Pathway

Arrhythmogenic right ventricular cardiomyopathy (ARVC);KEGG PATHWAY;hsa05412

Pathway

Regulation of Wnt-mediated beta catenin signaling and target gene transcription;PID Curated;200106

Pathway

FoxO family signaling;PID Curated;200091

Pathway

Adherens junction;KEGG PATHWAY;hsa04520

Pathway

wnt signaling pathway;PID BioCarta;100002

Pathway

Wnt signaling pathway;PANTHER;P00057

Pathway

Cadherin signaling pathway;PANTHER;P00012

Pathway

E-cadherin signaling events;PID Curated;200094

Pathway

Prostate cancer;KEGG PATHWAY;hsa05215

Pathway

AP-1 transcription factor network;PID Curated;200118

Pathway

Angiogenesis;PANTHER;P00005

Pathway

E-cadherin signaling in the nascent adherens junction;PID Curated;200105

Pathway

Myogenesis;Reactome;REACT:21303

Pathway

Pathways in cancer;KEGG PATHWAY;hsa05200

Pathway

Thyroid cancer;KEGG PATHWAY;hsa05216

Pathway

Canonical Wnt signaling pathway;PID Curated;200064

Pathway

Degradation of beta-catenin by the destruction complex;PID Reactome;500310

Pathway

Alzheimer disease-presenilin pathway;PANTHER;P00004

Pathway

Arf6 trafficking events;PID Curated;200046

Pathway

Tight junction;KEGG PATHWAY;hsa04530

Pathway

RAC1 signaling pathway;PID Curated;200190

Pathway

p53 pathway feedback loops 2;PANTHER;P04398

Pathway

Coregulation of Androgen receptor activity;PID Curated;200038

Pathway

Stabilization and expansion of the E-cadherin adherens junction;PID Curated;200155

Pathway

Apoptotic cleavage of cell adhesion proteins;PID Reactome;500272

Disease

Colorectal cancer;KEGG DISEASE;H00020

Disease

Thyroid cancer;KEGG DISEASE;H00032

Disease

Gastric cancer;KEGG DISEASE;H00018

Disease

Aseptic necrosis of bone;FunDO

Disease

Colorectal cancer;OMIM

Disease

Cancer;FunDO

Disease

Oral cancer;FunDO

Disease

Uterine disease;FunDO

Disease

Depression;FunDO

Disease

high exposure to aflatoxin B1.;GAD

Disease

Ulcerative colitis;FunDO

Disease

Bone mineral density (hip);GAD

Disease

Dermatitis;FunDO

Disease

Systemic scleroderma;FunDO

Disease

Cancers of endocrine organs;KEGG DISEASE

Disease

METABOLIC;GAD

Disease

Cancers of the digestive system;KEGG DISEASE

Disease

Alzheimer's disease;FunDO

Disease

Hepatocellular carcinoma;OMIM

Disease

Hepatocellular carcinoma;KEGG DISEASE;H00048

Disease

CANCER;GAD

Disease

Endometrial cancer;KEGG DISEASE;H00026

Disease

Cancers of the breast and female genital organs;KEGG DISEASE

Disease

Endometriosis;FunDO

Disease

Bone mineral density (hip);NHGRI

Disease

Cancers;KEGG DISEASE

Disease

Hepatoblastoma;OMIM

Disease

Congenital abnormality;FunDO

Disease

Ovarian cancer;OMIM

Disease

Pilomatricoma;OMIM

External Links

Links to Entrez Gene

1499

Links to all GeneRIF Items

1499

Links to iHOP

1499

Sequence Information

Nucleotide Sequence

>1499 : length: 2346
atggctactcaagctgatttgatggagttggacatggccatggaaccagacagaaaagcg
gctgttagtcactggcagcaacagtcttacctggactctggaatccattctggtgccact
accacagctccttctctgagtggtaaaggcaatcctgaggaagaggatgtggatacctcc
caagtcctgtatgagtgggaacagggattttctcagtccttcactcaagaacaagtagct
gatattgatggacagtatgcaatgactcgagctcagagggtacgagctgctatgttccct
gagacattagatgagggcatgcagatcccatctacacagtttgatgctgctcatcccact
aatgtccagcgtttggctgaaccatcacagatgctgaaacatgcagttgtaaacttgatt
aactatcaagatgatgcagaacttgccacacgtgcaatccctgaactgacaaaactgcta
aatgacgaggaccaggtggtggttaataaggctgcagttatggtccatcagctttctaaa
aaggaagcttccagacacgctatcatgcgttctcctcagatggtgtctgctattgtacgt
accatgcagaatacaaatgatgtagaaacagctcgttgtaccgctgggaccttgcataac
ctttcccatcatcgtgagggcttactggccatctttaagtctggaggcattcctgccctg
gtgaaaatgcttggttcaccagtggattctgtgttgttttatgccattacaactctccac
aaccttttattacatcaagaaggagctaaaatggcagtgcgtttagctggtgggctgcag
aaaatggttgccttgctcaacaaaacaaatgttaaattcttggctattacgacagactgc
cttcaaattttagcttatggcaaccaagaaagcaagctcatcatactggctagtggtgga
ccccaagctttagtaaatataatgaggacctatacttacgaaaaactactgtggaccaca
agcagagtgctgaaggtgctatctgtctgctctagtaataagccggctattgtagaagct
ggtggaatgcaagctttaggacttcacctgacagatccaagtcaacgtcttgttcagaac
tgtctttggactctcaggaatctttcagatgctgcaactaaacaggaagggatggaaggt
ctccttgggactcttgttcagcttctgggttcagatgatataaatgtggtcacctgtgca
gctggaattctttctaacctcacttgcaataattataagaacaagatgatggtctgccaa
gtgggtggtatagaggctcttgtgcgtactgtccttcgggctggtgacagggaagacatc
actgagcctgccatctgtgctcttcgtcatctgaccagccgacaccaagaagcagagatg
gcccagaatgcagttcgccttcactatggactaccagttgtggttaagctcttacaccca
ccatcccactggcctctgataaaggctactgttggattgattcgaaatcttgccctttgt
cccgcaaatcatgcacctttgcgtgagcagggtgccattccacgactagttcagttgctt
gttcgtgcacatcaggatacccagcgccgtacgtccatgggtgggacacagcagcaattt
gtggagggggtccgcatggaagaaatagttgaaggttgtaccggagcccttcacatccta
gctcgggatgttcacaaccgaattgttatcagaggactaaataccattccattgtttgtg
cagctgctttattctcccattgaaaacatccaaagagtagctgcaggggtcctctgtgaa
cttgctcaggacaaggaagctgcagaagctattgaagctgagggagccacagctcctctg
acagagttacttcactctaggaatgaaggtgtggcgacatatgcagctgctgttttgttc
cgaatgtctgaggacaagccacaagattacaagaaacggctttcagttgagctgaccagc
tctctcttcagaacagagccaatggcttggaatgagactgctgatcttggacttgatatt
ggtgcccagggagaaccccttggatatcgccaggatgatcctagctatcgttcttttcac
tctggtggatatggccaggatgccttgggtatggaccccatgatggaacatgagatgggt
ggccaccaccctggtgctgactatccagttgatgggctgccagatctggggcatgcccag
gacctcatggatgggctgcctccaggtgacagcaatcagctggcctggtttgatactgac
ctgtaa

Protein Sequence

>1499 : length: 781
MATQADLMELDMAMEPDRKAAVSHWQQQSYLDSGIHSGATTTAPSLSGKGNPEEEDVDTS
QVLYEWEQGFSQSFTQEQVADIDGQYAMTRAQRVRAAMFPETLDEGMQIPSTQFDAAHPT
NVQRLAEPSQMLKHAVVNLINYQDDAELATRAIPELTKLLNDEDQVVVNKAAVMVHQLSK
KEASRHAIMRSPQMVSAIVRTMQNTNDVETARCTAGTLHNLSHHREGLLAIFKSGGIPAL
VKMLGSPVDSVLFYAITTLHNLLLHQEGAKMAVRLAGGLQKMVALLNKTNVKFLAITTDC
LQILAYGNQESKLIILASGGPQALVNIMRTYTYEKLLWTTSRVLKVLSVCSSNKPAIVEA
GGMQALGLHLTDPSQRLVQNCLWTLRNLSDAATKQEGMEGLLGTLVQLLGSDDINVVTCA
AGILSNLTCNNYKNKMMVCQVGGIEALVRTVLRAGDREDITEPAICALRHLTSRHQEAEM
AQNAVRLHYGLPVVVKLLHPPSHWPLIKATVGLIRNLALCPANHAPLREQGAIPRLVQLL
VRAHQDTQRRTSMGGTQQQFVEGVRMEEIVEGCTGALHILARDVHNRIVIRGLNTIPLFV
QLLYSPIENIQRVAAGVLCELAQDKEAAEAIEAEGATAPLTELLHSRNEGVATYAAAVLF
RMSEDKPQDYKKRLSVELTSSLFRTEPMAWNETADLGLDIGAQGEPLGYRQDDPSYRSFH
SGGYGQDALGMDPMMEHEMGGHHPGADYPVDGLPDLGHAQDLMDGLPPGDSNQLAWFDTD
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