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

Basic Information

Gene ID

64881

Name

PCDH20

Synonym

PCDH13;protocadherin 20;PCDH20;protocadherin 20

Definition

protocadherin 13|protocadherin-13|protocadherin-20

Position

13q21

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 PCDH20

Pathways and Diseases

Pathway

Wnt signaling pathway;PANTHER;P00057

Pathway

Cadherin signaling pathway;PANTHER;P00012

External Links

Links to Entrez Gene

64881

Links to all GeneRIF Items

64881

Links to iHOP

64881

Sequence Information

Nucleotide Sequence

>64881 : length: 2856
atgcgcggccgagggaatgcgcgcagctcacaggccctgggagtgagctggtgcccggcg
acctggcacccgcgcctggatatggggcgtctacatcgtcccaggagcagcaccagctac
aggaacctgccgcatctgtttctgtttttcctcttcgtgggacccttcagctgcctcggg
agttacagccgggccaccgagcttctgtacagcctaaacgagggactacccgcgggggtg
ctcatcggcagcctggccgaggacctgcggctgctgcccaggtctgcagggaggccggac
ccgcagtcgcagctgccagagcgcaccggtgctgagtggaacccccctctctccttcagc
ctggcctcccggggactgagtggccagtacgtgaccctagacaaccgctctggggagctg
cacacttcagctcaggagatcgacagggaggccctgtgtgttgaagggggtggagggact
gcgtggagcggcagcgtttccatctcctcctctccttctgactcttgtcttttgctgctg
gatgtgcttgtcctgcctcaggaatacttcaggtttgtgaaggtgaagatcgccatcaga
gacatcaatgacaacgccccgcagttccctgtttcccagatctcggtgtgggtcccggaa
aatgcacctgtaaacacccgactggccatagagcatcctgctgtggacccagatgtaggc
attaatggggtacagacctatcgcttactggactaccatggtatgttcaccctggacgtg
gaggagaatgagaatggggagcgcaccccctacctaattgtcatgggtgctttggacagg
gaaacccaggaccagtatgtgagcatcatcatagctgaggatggtgggtctccaccactt
ttgggcagtgccactctcaccattggcatcagtgacattaatgacaattgccctctcttc
acagactcacaaatcaatgtcactgtgtatgggaatgctacagtgggcaccccaattgca
gctgtccaggctgtggataaagacttggggaccaatgctcaaattacttattcttacagt
cagaaagttccacaagcatctaaggatttatttcacctggatgaaaacactggagtcatt
aaacttttcagtaagattggaggaagtgttctggagtcccacaagctcaccatccttgct
aatggaccaggctgcatccctgctgtaatcactgctcttgtgtccattattaaagttatt
ttcagaccccctgaaattgtccctcgttacatagcaaacgagatagatggtgtggtttat
ctgaaagaactggaacccgttaacactcccattgcgtttttcaccataagagatccagaa
ggtaaatacaaggttaactgctacctggatggtgaagggccgtttaggttatcaccttac
aaaccatacaataatgaatatttactagagaccacaaaacctatggactatgagctacag
cagttctatgaagtagctgtggtggcttggaactctgagggatttcatgtcaaaagggtc
attaaagtgcaacttttagatgacaatgataatgctccaattttccttcaacccttaata
gaactaaccatcgaagagaacaactcacccaatgcctttttgactaagctgtatgctaca
gatgccgacagcgaggagagaggccaagtttcatattttctgggacctgatgctccatca
tatttttccttagacagtgtcacaggaattctgacagtttctactcagctggaccgagaa
gagaaagaaaagtacagatacactgtcagagctgttgactgtgggaagccacccagagaa
tcagtagccactgtggccctcacagtgttggataaaaatgacaacagtcctcggtttatc
aacaaggacttcagcttttttgtgcctgaaaactttccaggctatggtgagattggagta
attagtgtaacagatgctgacgctggacgaaatggatgggtcgccctctctgtggtgaac
cagagtgatatttttgtcatagatacaggaaagggtatgctgagggctaaagtctctttg
gacagagagcagcaaagctcctatactttgtgggttgaagctgttgatgggggtgagcct
gccctctcctctacagcaaaaatcacaattctccttctagatatcaatgacaaccctcct
cttgttttgtttcctcagtctaatatgtcttatctgttagtactgccttctactctgcca
ggctccccggttacagaagtctatgctgtcgacaaagacacaggcatgaatgctgtcata
gcttacagcatcatagggagaagaggtcctaggcctgagtccttcaggattgaccctaaa
actggcaacattactttggaagaggcattgctgcagacagattatgggctccatcgctta
ctggtgaaagtgagtgatcatggttatcccgagcctctccactccacagtcatggtgaac
ctatttgtcaatgacactgtcagtaatgagagttacattgagagtcttttaagaaaagaa
ccagagattaatatagaggagaaagaaccacaaatctcaatagaaccgactcataggaag
gtagaatctgtgtcttgtatgcccaccttagtagctctgtctgtaataagcttgggttcc
atcacactggtcacagggatgggcatatacatctgtttaaggaaaggggaaaagcatccc
agggaagatgaaaatttggaagtacagattccactgaaaggaaaaattgacttgcatatg
cgagagagaaagccaatggatatttctaatatttga

Protein Sequence

>64881 : length: 951
MRGRGNARSSQALGVSWCPATWHPRLDMGRLHRPRSSTSYRNLPHLFLFFLFVGPFSCLG
SYSRATELLYSLNEGLPAGVLIGSLAEDLRLLPRSAGRPDPQSQLPERTGAEWNPPLSFS
LASRGLSGQYVTLDNRSGELHTSAQEIDREALCVEGGGGTAWSGSVSISSSPSDSCLLLL
DVLVLPQEYFRFVKVKIAIRDINDNAPQFPVSQISVWVPENAPVNTRLAIEHPAVDPDVG
INGVQTYRLLDYHGMFTLDVEENENGERTPYLIVMGALDRETQDQYVSIIIAEDGGSPPL
LGSATLTIGISDINDNCPLFTDSQINVTVYGNATVGTPIAAVQAVDKDLGTNAQITYSYS
QKVPQASKDLFHLDENTGVIKLFSKIGGSVLESHKLTILANGPGCIPAVITALVSIIKVI
FRPPEIVPRYIANEIDGVVYLKELEPVNTPIAFFTIRDPEGKYKVNCYLDGEGPFRLSPY
KPYNNEYLLETTKPMDYELQQFYEVAVVAWNSEGFHVKRVIKVQLLDDNDNAPIFLQPLI
ELTIEENNSPNAFLTKLYATDADSEERGQVSYFLGPDAPSYFSLDSVTGILTVSTQLDRE
EKEKYRYTVRAVDCGKPPRESVATVALTVLDKNDNSPRFINKDFSFFVPENFPGYGEIGV
ISVTDADAGRNGWVALSVVNQSDIFVIDTGKGMLRAKVSLDREQQSSYTLWVEAVDGGEP
ALSSTAKITILLLDINDNPPLVLFPQSNMSYLLVLPSTLPGSPVTEVYAVDKDTGMNAVI
AYSIIGRRGPRPESFRIDPKTGNITLEEALLQTDYGLHRLLVKVSDHGYPEPLHSTVMVN
LFVNDTVSNESYIESLLRKEPEINIEEKEPQISIEPTHRKVESVSCMPTLVALSVISLGS
ITLVTGMGIYICLRKGEKHPREDENLEVQIPLKGKIDLHMRERKPMDISNI



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