KEGG   Homo sapiens (human): 4148
Entry
4148              CDS       T01001                                 

Gene name
MATN3, DIPOA, EDM5, HOA, OADIP, OS2, SEMDBCD
Definition
(RefSeq) matrilin 3
  KO
K19467  matrilin
Organism
hsa  Homo sapiens (human)
Disease
H00476  Multiple epiphyseal dysplasia
H00767  SEMD, Matrilin type
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]
    4148 (MATN3)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 Von Willebrand domain-containing proteins
  VWA domain-containing proteins
   4148 (MATN3)
SSDB
Motif
Pfam: VWA FXa_inhibition cEGF VWA_2 Matrilin_ccoil EGF_CA EGF
Other DBs
NCBI-GeneID: 4148
NCBI-ProteinID: NP_002372
OMIM: 602109
HGNC: 6909
Ensembl: ENSG00000132031
Vega: OTTHUMG00000151788
Pharos: O15232(Tbio)
UniProt: O15232
Position
2p24.1
AA seq 486 aa
MPRPAPARRLPGLLLLLWPLLLLPSAAPDPVARPGFRRLETRGPGGSPGRRPSPAAPDGA
PASGTSEPGRARGAGVCKSRPLDLVFIIDSSRSVRPLEFTKVKTFVSRIIDTLDIGPADT
RVAVVNYASTVKIEFQLQAYTDKQSLKQAVGRITPLSTGTMSGLAIQTAMDEAFTVEAGA
REPSSNIPKVAIIVTDGRPQDQVNEVAARAQASGIELYAVGVDRADMASLKMMASEPLEE
HVFYVETYGVIEKLSSRFQETFCALDPCVLGTHQCQHVCISDGEGKHHCECSQGYTLNAD
KKTCSALDRCALNTHGCEHICVNDRSGSYHCECYEGYTLNEDRKTCSAQDKCALGTHGCQ
HICVNDRTGSHHCECYEGYTLNADKKTCSVRDKCALGSHGCQHICVSDGAASYHCDCYPG
YTLNEDKKTCSATEEARRLVSTEDACGCEATLAFQDKVSSYLQRLNTKLDDILEKLKINE
YGQIHR
NT seq 1461 nt   +upstreamnt  +downstreamnt
atgccgcgcccggcccccgcgcgccgcctcccgggactcctcctgctgctctggccgctg
ctgctgctgccctccgccgcccccgaccccgtggcccgcccgggcttccggaggctggag
acccgaggtcccgggggcagccctggacgccgcccctctcctgcggctcccgacggcgcg
cccgcttccgggaccagcgagcctggccgcgcccgcggtgcaggtgtttgcaagagcaga
cccttggacctggtgtttatcattgatagttctcgtagcgtacggcccctggaattcacc
aaagtgaaaacttttgtctcccggataatcgacactctggacattgggccagccgacacg
cgggtggcagtggtgaactatgctagcactgtgaagatcgagttccaactccaggcctac
acagataagcagtccctgaagcaggccgtgggtcgaatcacacccttgtcaacaggcacc
atgtcaggcctagccatccagacagcaatggacgaagccttcacagtggaggcaggggct
cgagagccctcttctaacatccctaaggtggccatcattgttacagatgggaggccccag
gaccaggtgaatgaggtggcggctcgggcccaagcatctggtattgagctctatgctgtg
ggcgtggaccgggcagacatggcgtccctcaagatgatggccagtgagcccctagaggag
catgttttctacgtggagacctatggggtcattgagaaactttcctctagattccaggaa
accttctgtgcgctggacccctgtgtgcttggaacacaccagtgccagcacgtctgcatc
agtgatggggaaggcaagcaccactgtgagtgtagccaaggatacaccttgaatgccgac
aagaaaacgtgttcagctcttgataggtgtgctcttaacacccacggatgtgagcacatc
tgtgtgaatgacagaagtggctcttatcattgtgagtgctatgaaggttataccttgaat
gaagacaggaaaacttgttcagctcaagataaatgtgctttgggtacccatgggtgtcag
cacatttgtgtgaatgacagaacagggtcccatcattgtgaatgctatgagggctacact
ctgaatgcagataaaaaaacatgttcagtccgtgacaagtgtgccctaggctctcatggt
tgccagcacatttgtgtgagtgatggggccgcatcctaccactgtgattgctatcctggc
tacaccttaaatgaggacaagaaaacatgttcagccactgaggaagcacgaagacttgtt
tccactgaagatgcttgtggatgtgaagctacactggcattccaggacaaggtcagctcg
tatcttcaaagactgaacactaaacttgatgacattttggagaagttgaaaataaatgaa
tatggacaaatacatcgttaa

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