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

Basic Information

Gene ID

147381

Name

CBLN2

Synonym

-;cerebellin 2 precursor;CBLN2;cerebellin 2 precursor

Definition

cerebellin-2

Position

18q22.3

Gene Type

protein-coding

PAH Type

Description

PAH

"We detected a significant association at the CBLN2 locus mapping to 18q22.3, with the risk allele conferring an odds ratio for PAH of 1.97 (1.59-2.45; P = 7.47 � 10-10)."

PAH

"We detected a significant association at the CBLN2 locus mapping to 18q22.3, with the risk allele conferring an odds ratio for PAH of 1.97 (1.59-2.45; P = 7.47 x 10-10). CBLN2 is expressed in the lung, and its expression is higher in explanted lungs from individuals with PAH and in endothelial cells cultured from explanted PAH lungs. ".
More detail of all Human literatures about CBLN2

External Links

Links to Entrez Gene

147381

Links to all GeneRIF Items

147381

Links to iHOP

147381

Sequence Information

Nucleotide Sequence

>147381 : length: 675
atgcaggcgcccggccgggggccactcgggctgcggctgatgatgcccgggcgccggggg
gcgctgcgcgagccgggcggctgcggatcctgcctgggggtggcgctggccctgctgttg
ctgctactgcccgcctgctgccccgtgcgggcgcagaacgacacggagcccatcgtgctg
gagggcaagtgcctggtggtgtgcgactccagcccgtcggcggacggcgccgtcacctcc
tccctaggcatctccgtgcgctccggcagcgccaaggtggccttctccgccacgcggagc
accaaccacgagccgtccgagatgagcaaccgcaccatgaccatctatttcgaccaggta
ttagtaaatattggcaaccactttgatcttgcttccagtatatttgtagcaccgagaaaa
gggatttatagcttcagcttccacgtggtcaaagtgtataacagacaaaccatccaggtc
agtttaatgcagaatggctacccagtgatctcggcctttgcaggagaccaggatgtcacc
agagaagctgctagcaatggcgtgctgctgctcatggaaagggaagacaaagtgcatctc
aaacttgagagaggcaacctcatggggggctggaaatactccacattctcgggcttcttg
gtgtttcctctataa

Protein Sequence

>147381 : length: 224
MQAPGRGPLGLRLMMPGRRGALREPGGCGSCLGVALALLLLLLPACCPVRAQNDTEPIVL
EGKCLVVCDSSPSADGAVTSSLGISVRSGSAKVAFSATRSTNHEPSEMSNRTMTIYFDQV
LVNIGNHFDLASSIFVAPRKGIYSFSFHVVKVYNRQTIQVSLMQNGYPVISAFAGDQDVT
REAASNGVLLLMEREDKVHLKLERGNLMGGWKYSTFSGFLVFPL



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