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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (6)   
   KEGG DISEASE (2)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (22)   
   KEGG ORTHOLOGY (1)   
   RefGene (13)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (19)   
   RefSeq(nuc) (1)   
   GenBank (9)   
   EMBL (9)   
Protein domain (7)   
   Pfam (7)   
All databases (60)   

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