| Entry |
|
| Gene name |
COL9A2, DJ39G22.4, EDM2, MED, STL5
|
| Definition |
collagen, type IX, alpha 2
|
| Orthology |
|
| Organism |
|
| Pathway |
| Protein digestion and absorption |
|
| Disease |
| Multiple epiphyseal dysplasia (MED) |
|
| Class |
Organismal Systems; Digestive system; Protein digestion and absorption [PATH: hsa04974]
 |
| SSDB |
   |
| Motif |
 |
| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
| Position |
1p33-p32
|
| AA seq |
689 aa  
MAAATASPRSLLVLLQVVVLALAQIRGPPGERGPPGPPGPPGVPGSDGIDGDNGPPGKAG
PPGPKGEPGKAGPDGPDGKPGIDGLTGAKGEPGPMGIPGVKGQPGLPGPPGLPGPGFAGP
PGPPGPVGLPGEIGIRGPKGDPGPDGPSGPPGPPGKPGRPGTIQGLEGSADFLCPTNCPP
GMKGPPGLQGVKGHAGKRGILGDPGHQGKPGPKGDVGASGEQGIPGPPGPQGIRGYPGMA
GPKGETGPHGYKGMVGAIGATGPPGEEGPRGPPGRAGEKGDEGSPGIRGPQGITGPKGAT
GPPGINGKDGTPGTPGMKGSAGQAGQPGSPGHQGLAGVPGQPGTKGGPGDQGEPGPQGLP
GFSGPPGKEGEPGPRGEIGPQGIMGQKGDQGERGPVGQPGPQGRQGPKGEQGPPGIPGPQ
GLPGVKGDKGSPGKTGPRGKVGDPGVAGLPGEKGEKGESGEPGPKGQQGVRGEPGYPGPS
GDAGAPGVQGYPGPPGPRGLAGNRGVPGQPGRQGVEGRDATDQHIVDVALKMLQEQLAEV
AVSAKREALGAVGMMGPPGPPGPPGYPGKQGPHGHPGPRGVPGIVGAVGQIGNTGPKGKR
GEKGDPGEVGRGHPGMPGPPGIPGLPGRPGQAINGKDGDRGSPGAPGEAGRPGLPGPVGL
PGFCEPAACLGASAYASARLTEPGSIKGP |
| NT seq |
2070 nt  +upstreamnt +downstreamnt
atggccgccgctacggcctccccccgcagcctccttgttctcctccaggtggtagtgctc
gctctggcgcagattagaggtccaccgggagagcggggccccccgggtcccccgggaccg
ccgggagtgcctggatccgacggcatcgacggtgacaatgggccccctggaaaagctggc
cctccgggacccaagggcgagcctggcaaagctgggccagatgggccagacgggaagccc
gggattgatggtttaactggagccaagggggagcctggccccatggggatccctggagtc
aagggccagcccgggcttcctggtcctcctggccttccgggccctggttttgctggacct
cctgggcctcctggacctgttggcctccctggtgagattggaatccgaggccccaagggg
gaccctggaccagatggaccatcggggcccccaggaccccctgggaaacctggtcgcccg
ggaaccatccagggtctggaaggcagtgcggatttcctgtgtccaaccaactgtccaccc
ggaatgaaaggtcccccagggctgcagggagtgaaggggcatgcgggcaaacgcgggatt
ctgggtgatcctggccaccaggggaagccgggtcccaagggagatgtgggtgcctctgga
gagcaaggcatccctggaccaccgggtccccagggcatcaggggctacccaggcatggca
gggcccaagggagagacgggccctcatggatataaaggcatggtgggcgctatcggtgcc
actgggccaccgggtgaggaaggtcctaggggaccgccaggccgagctggggagaagggt
gacgagggcagcccaggtattcgtggaccccaggggatcacaggcccgaaaggagcaacg
ggccccccaggcatcaacggcaaggatgggaccccaggcacgcctggcatgaagggcagt
gcaggacaggcgggacagcccggaagtccaggccaccagggcctagcgggtgtgccaggc
cagcctgggacaaaaggaggccctggagaccagggtgagccgggcccgcagggccttcct
ggattctctggtccccctgggaaagagggagagccagggcctcgaggagaaattggtccc
cagggcatcatgggacagaagggtgaccaaggcgagaggggtccagtggggcaaccaggc
cctcagggaaggcagggccctaagggggagcagggcccccccggaattccagggccccaa
ggcttgccaggcgtcaaaggagacaagggctccccagggaagaccgggccccgcggcaaa
gtgggtgacccaggggtggccggcctccccggagagaaaggcgagaagggcgagtccggc
gagccggggcccaagggacagcaaggagtacgtggagaacccggctaccctggccccagc
ggggatgcgggcgccccaggggttcagggctaccctggtccccccggccctcgaggactg
gccgggaaccgaggcgtgccaggacagcccgggagacagggcgtggagggccgggatgcc
actgaccagcacatcgtggatgtggcgctgaagatgctgcaagagcaactggcagaggtc
gccgtgagtgccaagcgggaagccctgggtgcggtgggcatgatgggtcctccaggacct
cctgggccccctgggtacccaggcaagcagggcccccatgggcaccctggccctcggggc
gttcctggcatcgtgggagccgtgggtcagatcggcaacacggggcccaagggaaaacgt
ggagagaagggtgatccaggagaagtgggacgggggcaccccgggatgcctgggccccca
gggatcccaggactccctggccggcctggccaggcaatcaacggcaaggatggagatcga
gggtccccaggggctccaggagaggcaggtcgacctggcctgccaggccccgtggggctg
ccgggcttctgtgaacctgccgcctgccttggagcttcggcctatgcctctgcccgcctt
acagagcctggatccatcaaggggccttga |