KEGG   Homo sapiens (human): 1292Help
Entry
1292              CDS       T01001                                 

Gene name
COL6A2, PP3610
Definition
collagen, type VI, alpha 2
Orthology
K06238  
collagen, type VI, alpha
Organism
hsa  Homo sapiens (human)
Pathway
PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Protein digestion and absorption
Disease
H00590  
Congenital muscular dystrophies (CMD/MDC)
H01338  
Myosclerosis
H01340  
Bethlem myopathy
H01341  
Collagen VI myopathy
Class
Environmental Information Processing; Signal transduction; PI3K-Akt signaling pathway [PATH:hsa04151]
Environmental Information Processing; Signaling molecules and interaction; ECM-receptor interaction [PATH:hsa04512]
Cellular Processes; Cell communication; Focal adhesion [PATH:hsa04510]
Organismal Systems; Digestive system; Protein digestion and absorption [PATH:hsa04974]
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
21q22.3
AA seq 1019 aa AA seqDB search
MLQGTCSVLLLWGILGAIQAQQQEVISPDTTERNNNCPEKTDCPIHVYFVLDTSESVTMQ
SPTDILLFHMKQFVPQFISQLQNEFYLDQVALSWRYGGLHFSDQVEVFSPPGSDRASFIK
NLQGISSFRRGTFTDCALANMTEQIRQDRSKGTVHFAVVITDGHVTGSPCGGIKLQAERA
REEGIRLFAVAPNQNLKEQGLRDIASTPHELYRNDYATMLPDSTEIDQDTINRIIKVMKH
EAYGECYKVSCLEIPGPSGPKGYRGQKGAKGNMGEPGEPGQKGRQGDPGIEGPIGFPGPK
GVPGFKGEKGEFGADGRKGAPGLAGKNGTDGQKGKLGRIGPPGCKGDPGNRGPDGYPGEA
GSPGERGDQGGKGDPGRPGRRGPPGEIGAKGSKGYQGNSGAPGSPGVKGAKGGPGPRGPK
GEPGRRGDPGTKGSPGSDGPKGEKGDPGPEGPRGLAGEVGNKGAKGDRGLPGPRGPQGAL
GEPGKQGSRGDPGDAGPRGDSGQPGPKGDPGRPGFSYPGPRGAPGEKGEPGPRGPEGGRG
DFGLKGEPGRKGEKGEPADPGPPGEPGPRGPRGVPGPEGEPGPPGDPGLTECDVMTYVRE
TCGCCDCEKRCGALDVVFVIDSSESIGYTNFTLEKNFVINVVNRLGAIAKDPKSETGTRV
GVVQYSHEGTFEAIQLDDERIDSLSSFKEAVKNLEWIAGGTWTPSALKFAYDRLIKESRR
QKTRVFAVVITDGRHDPRDDDLNLRALCDRDVTVTAIGIGDMFHEKHESENLYSIACDKP
QQVRNMTLFSDLVAEKFIDDMEDVLCPDPQIVCPDLPCQTELSVAQCTQRPVDIVFLLDG
SERLGEQNFHKARRFVEQVARRLTLARRDDDPLNARVALLQFGGPGEQQVAFPLSHNLTA
IHEALETTQYLNSFSHVGAGVVHAINAIVRSPRGGARRHAELSFVFLTDGVTGNDSLHES
AHSMRKQNVVPTVLALGSDVDMDVLTTLSLGDRAAVFHEKDYDSLAQPGFFDRFIRWIC
NT seq 3060 nt NT seq  +upstreamnt  +downstreamnt
atgctccagggcacctgctccgtgctcctgctctggggaatcctgggggccatccaggcc
cagcagcaggaggtcatctcgccggacactaccgagagaaacaacaactgcccagagaag
accgactgccccatccacgtgtacttcgtgctggacacctcggagagcgtcaccatgcag
tcccccacggacatcctgctcttccacatgaagcagttcgtgccgcagttcatcagccag
ctgcagaacgagttctacctggaccaggtggcgctgagctggcgctacggcggcctgcac
ttctctgaccaggtggaggtgttcagcccaccgggcagcgaccgggcctccttcatcaag
aacctgcagggcatcagctccttccgccgcggcaccttcaccgactgcgcgctggccaac
atgacggagcagatccggcaggaccgcagcaagggcaccgtccacttcgccgtggtcatc
accgacggccacgtcaccggcagcccctgcgggggcatcaagctgcaggccgagcgggcc
cgcgaggagggcatccggctcttcgccgtggcccccaaccagaacctgaaggagcagggc
ctgcgggacatcgccagcacgccgcacgagctctaccgcaacgactacgccaccatgctg
cccgactccaccgagatcgaccaggacaccatcaaccgcatcatcaaggtcatgaaacac
gaagcctacggagagtgctacaaggtgagctgcctggaaatccctgggccctctggcccc
aagggctaccgtggacagaagggtgccaagggcaacatgggtgagccgggagagcctggc
cagaagggaagacagggagacccgggcatcgaaggccccattggattcccaggacccaag
ggcgttcctggcttcaaaggagagaagggtgaatttggagccgacggtcgcaagggggcc
cctggcctggctggcaagaacgggaccgatggacagaagggcaagctggggcgcatcgga
cctcctggctgcaagggagaccctggaaaccggggccccgacggttacccgggggaagca
gggagtccaggggagcgaggagaccaaggcggcaagggggaccctggccgcccaggacgc
agagggcccccgggagaaatcggggccaagggaagcaaggggtatcaaggcaacagtgga
gccccaggaagtcctggtgtgaaaggagccaagggcgggcctgggccccgcggacccaaa
ggcgagccggggcgcaggggagaccccggcaccaagggcagcccaggcagcgatggcccc
aagggggagaagggggaccctggccctgaggggccccgcggcctggctggagaggttggc
aacaaaggagccaagggagaccgaggcttgcctggacccagaggcccccagggagctctt
ggggagcccggaaagcagggatctcggggagaccccggtgatgcaggaccccgtggagac
tcaggacagccaggccccaagggagaccccggcaggcctggattcagctacccaggaccc
cgaggagcacccggagaaaaaggcgagcccggcccacgcggccccgagggaggccgaggc
gactttggcttgaaaggagaacctgggaggaaaggagagaaaggagagcctgcggatcct
ggtccccctggtgagccaggccctcgggggccaagaggagtcccaggacccgagggtgag
cccggcccccctggagaccccggtctcacggagtgtgacgtcatgacctacgtgagggag
acctgcgggtgctgcgactgtgagaagcgctgtggcgccctggacgtggtcttcgtcatc
gacagctccgagagcattgggtacaccaacttcacactggagaagaacttcgtcatcaac
gtggtcaacaggctgggtgccatcgctaaggaccccaagtccgagacagggacgcgtgtg
ggcgtggtgcagtacagccacgagggcacctttgaggccatccagctggacgacgaacgt
atcgactccctgtcgagcttcaaggaggctgtcaagaacctcgagtggattgcgggcggc
acctggacaccctcagccctcaagtttgcctacgaccgcctcatcaaggagagccggcgc
cagaagacacgtgtgtttgcggtggtcatcacggacgggcgccacgaccctcgggacgat
gacctcaacttgcgggcgctgtgcgaccgcgacgtcacagtgacggccatcggcatcggg
gacatgttccacgagaagcacgagagtgaaaacctctactccatcgcctgcgacaagcca
cagcaggtgcgcaacatgacgctgttctccgacctggtcgctgagaagttcatcgatgac
atggaggacgtcctctgcccggaccctcagatcgtgtgcccagaccttccctgccaaaca
gagctgtccgtggcacagtgcacgcagcggcccgtggacatcgtcttcctgctggacggc
tccgagcggctgggtgagcagaacttccacaaggcccggcgcttcgtggagcaggtggcg
cggcggctgacgctggcccggagggacgacgaccctctcaacgcacgcgtggcgctgctg
cagtttggtggccccggcgagcagcaggtggccttcccgctgagccacaacctcacggcc
atccacgaggcgctggagaccacacaatacctgaactccttctcgcacgtgggcgcaggc
gtggtgcacgccatcaatgccatcgtgcgcagcccgcgtggcggggcccggaggcacgca
gagctgtccttcgtgttcctcacggacggcgtcacgggcaacgacagtctgcacgagtcg
gcgcactccatgcgcaagcagaacgtggtacccaccgtgctggccttgggcagcgacgtg
gacatggacgtgctcaccacgctcagcctgggtgaccgcgccgccgtgttccacgagaag
gactatgacagcctggcgcaacccggcttcttcgaccgcttcatccgctggatctgctag

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