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

Gene name
COL6A2, BTHLM1, PP3610, UCMD1
Definition
(RefSeq) collagen type VI alpha 2 chain
  KO
K06238  collagen, type VI, alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04974  Protein digestion and absorption
hsa05165  Human papillomavirus infection
Disease
H00590  Congenital muscular dystrophies (CMD/MDC)
H01338  Myosclerosis
H01340  Bethlem myopathy
H01341  Collagen VI myopathy
H01778  Ullrich disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04151 PI3K-Akt signaling pathway
    1292 (COL6A2)
  Signaling molecules and interaction
   04512 ECM-receptor interaction
    1292 (COL6A2)
 Cellular Processes
  Cellular community - eukaryotes
   04510 Focal adhesion
    1292 (COL6A2)
 Organismal Systems
  Digestive system
   04974 Protein digestion and absorption
    1292 (COL6A2)
 Human Diseases
  Infectious diseases
   05165 Human papillomavirus infection
    1292 (COL6A2)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   1292 (COL6A2)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate/Haparin
  Extracellular matrix molecules (General comment) Storage depot, cell adhesion and motility, ECM/barrier formation
   1292 (COL6A2)
 Hyaluronan
  Extracellular matrix or blood plasma proteins
   1292 (COL6A2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: VWA Collagen VWA_2 VWA_3 ParE-like_toxin
Motif
Other DBs
NCBI-GeneID: 1292
NCBI-ProteinID: NP_001840
OMIM: 120240
HGNC: 2212
Ensembl: ENSG00000142173
Vega: OTTHUMG00000090489
Pharos: P12110(Tbio)
UniProt: P12110
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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