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

Basic Information

Gene ID

7045

Name

TGFBI

Synonym

BIGH3|CDB1|CDG2|CDGG1|CSD|CSD1|CSD2|CSD3|EBMD|LCD1;transforming growth factor, beta-induced, 68kDa;TGFBI;transforming growth factor, beta-induced, 68kDa

Definition

RGD-CAP|RGD-containing collagen-associated protein|beta ig-h3|kerato-epithelin|transforming growth factor-beta-induced protein ig-h3

Position

5q31

Gene Type

protein-coding

PAH Type

Description

PAH

"In the present study, we determined that pulmonary arteries in normal lungs and in lungs of patients with emphysema and idiopathic pulmonary arterial hypertension comparably expressed transforming growth factor-beta receptors I and II, Smad(1, 5, 8), Smad2, Smad3, Smad4, phosphorylated Smad(1, 5, 8), and phosphorylated Smad2 (the latter two both indicative of active in vivo signaling) in endothelial cells, as assessed by immunohistochemistry and quantitative morphometry. Medial or intimal smooth muscle cells had weak or absent expression of these molecules. In clear contrast to endothelial cell expression in pulmonary arteries and in endothelial cells lining incipient vessels within plexiform lesions of hypertensive lungs, endothelial cells present in the core of the lesions lacked expression of all examined members of the signaling molecules. ".
More detail of all Human literatures about TGFBI

External Links

Links to Entrez Gene

7045

Links to all GeneRIF Items

7045

Links to iHOP

7045

Sequence Information

Nucleotide Sequence

>7045 : length: 2052
atggcgctcttcgtgcggctgctggctctcgccctggctctggccctgggccccgccgcg
accctggcgggtcccgccaagtcgccctaccagctggtgctgcagcacagcaggctccgg
ggccgccagcacggccccaacgtgtgtgctgtgcagaaggttattggcactaataggaag
tacttcaccaactgcaagcagtggtaccaaaggaaaatctgtggcaaatcaacagtcatc
agctacgagtgctgtcctggatatgaaaaggtccctggggagaagggctgtccagcagcc
ctaccactctcaaacctttacgagaccctgggagtcgttggatccaccaccactcagctg
tacacggaccgcacggagaagctgaggcctgagatggaggggcccggcagcttcaccatc
ttcgcccctagcaacgaggcctgggcctccttgccagctgaagtgctggactccctggtc
agcaatgtcaacattgagctgctcaatgccctccgctaccatatggtgggcaggcgagtc
ctgactgatgagctgaaacacggcatgaccctcacctctatgtaccagaattccaacatc
cagatccaccactatcctaatgggattgtaactgtgaactgtgcccggctgctgaaagcc
gaccaccatgcaaccaacggggtggtgcacctcatcgataaggtcatctccaccatcacc
aacaacatccagcagatcattgagatcgaggacacctttgagacccttcgggctgctgtg
gctgcatcagggctcaacacgatgcttgaaggtaacggccagtacacgcttttggccccg
accaatgaggccttcgagaagatccctagtgagactttgaaccgtatcctgggcgaccca
gaagccctgagagacctgctgaacaaccacatcttgaagtcagctatgtgtgctgaagcc
atcgttgcggggctgtctgtagagaccctggagggcacgacactggaggtgggctgcagc
ggggacatgctcactatcaacgggaaggcgatcatctccaataaagacatcctagccacc
aacggggtgatccactacattgatgagctactcatcccagactcagccaagacactattt
gaattggctgcagagtctgatgtgtccacagccattgaccttttcagacaagccggcctc
ggcaatcatctctctggaagtgagcggttgaccctcctggctcccctgaattctgtattc
aaagatggaacccctccaattgatgcccatacaaggaatttgcttcggaaccacataatt
aaagaccagctggcctctaagtatctgtaccatggacagaccctggaaactctgggcggc
aaaaaactgagagtttttgtttatcgtaatagcctctgcattgagaacagctgcatcgcg
gcccacgacaagagggggaggtacgggaccctgttcacgatggaccgggtgctgaccccc
ccaatggggactgtcatggatgtcctgaagggagacaatcgctttagcatgctggtagct
gccatccagtctgcaggactgacggagaccctcaaccgggaaggagtctacacagtcttt
gctcccacaaatgaagccttccgagccctgccaccaagagaacggagcagactcttggga
gatgccaaggaacttgccaacatcctgaaataccacattggtgatgaaatcctggttagc
ggaggcatcggggccctggtgcggctaaagtctctccaaggtgacaagctggaagtcagc
ttgaaaaacaatgtggtgagtgtcaacaaggagcctgttgccgagcctgacatcatggcc
acaaatggcgtggtccatgtcatcaccaatgttctgcagcctccagccaacagacctcag
gaaagaggggatgaacttgcagactctgcgcttgagatcttcaaacaagcatcagcgttt
tccagggcttcccagaggtctgtgcgactagcccctgtctatcaaaagttattagagagg
atgaagcattag

Protein Sequence

>7045 : length: 683
MALFVRLLALALALALGPAATLAGPAKSPYQLVLQHSRLRGRQHGPNVCAVQKVIGTNRK
YFTNCKQWYQRKICGKSTVISYECCPGYEKVPGEKGCPAALPLSNLYETLGVVGSTTTQL
YTDRTEKLRPEMEGPGSFTIFAPSNEAWASLPAEVLDSLVSNVNIELLNALRYHMVGRRV
LTDELKHGMTLTSMYQNSNIQIHHYPNGIVTVNCARLLKADHHATNGVVHLIDKVISTIT
NNIQQIIEIEDTFETLRAAVAASGLNTMLEGNGQYTLLAPTNEAFEKIPSETLNRILGDP
EALRDLLNNHILKSAMCAEAIVAGLSVETLEGTTLEVGCSGDMLTINGKAIISNKDILAT
NGVIHYIDELLIPDSAKTLFELAAESDVSTAIDLFRQAGLGNHLSGSERLTLLAPLNSVF
KDGTPPIDAHTRNLLRNHIIKDQLASKYLYHGQTLETLGGKKLRVFVYRNSLCIENSCIA
AHDKRGRYGTLFTMDRVLTPPMGTVMDVLKGDNRFSMLVAAIQSAGLTETLNREGVYTVF
APTNEAFRALPPRERSRLLGDAKELANILKYHIGDEILVSGGIGALVRLKSLQGDKLEVS
LKNNVVSVNKEPVAEPDIMATNGVVHVITNVLQPPANRPQERGDELADSALEIFKQASAF
SRASQRSVRLAPVYQKLLERMKH



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