KEGG   Homo sapiens (human): 30008
Entry
30008             CDS       T01001                                 
Symbol
EFEMP2, ARCL1B, FBLN4, MBP1, UPH1
Name
(RefSeq) EGF containing fibulin extracellular matrix protein 2
  KO
K19866  EGF-containing fibulin-like extracellular matrix protein 2
Organism
hsa  Homo sapiens (human)
Disease
H00557  Cutis laxa
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    30008 (EFEMP2)
   04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]
    30008 (EFEMP2)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   30008 (EFEMP2)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 EGF-like domain-containing proteins
  hEGF / cEGF domain-containing proteins
   30008 (EFEMP2)
SSDB
Motif
Pfam: EGF_CA cEGF Fibulin_C FXa_inhibition EGF_3 hEGF EGF Adipogenin
Other DBs
NCBI-GeneID: 30008
NCBI-ProteinID: NP_058634
OMIM: 604633
HGNC: 3219
Ensembl: ENSG00000172638
UniProt: O95967 Q9H3D5
Structure
Position
11:complement(65866441..65872800)
AA seq 443 aa
MLPCASCLPGSLLLWALLLLLLGSASPQDSEEPDSYTECTDGYEWDPDSQHCRDVNECLT
IPEACKGEMKCINHYGGYLCLPRSAAVINDLHGEGPPPPVPPAQHPNPCPPGYEPDDQDS
CVDVDECAQALHDCRPSQDCHNLPGSYQCTCPDGYRKIGPECVDIDECRYRYCQHRCVNL
PGSFRCQCEPGFQLGPNNRSCVDVNECDMGAPCEQRCFNSYGTFLCRCHQGYELHRDGFS
CSDIDECSYSSYLCQYRCINEPGRFSCHCPQGYQLLATRLCQDIDECESGAHQCSEAQTC
VNFHGGYRCVDTNRCVEPYIQVSENRCLCPASNPLCREQPSSIVHRYMTITSERSVPADV
FQIQATSVYPGAYNAFQIRAGNSQGDFYIRQINNVSAMLVLARPVTGPREYVLDLEMVTM
NSLMSYRASSVLRLTVFVGAYTF
NT seq 1332 nt   +upstreamnt  +downstreamnt
atgctcccctgcgcctcctgcctacccgggtctctactgctctgggcgctgctactgttg
ctcttgggatcagcttctcctcaggattctgaagagcccgacagctacacggaatgcaca
gatggctatgagtgggacccagacagccagcactgccgggatgtcaacgagtgtctgacc
atccctgaggcctgcaagggggaaatgaagtgcatcaaccactacgggggctacttgtgc
ctgccccgctccgctgccgtcatcaacgacctacacggcgagggacccccgccaccagtg
cctcccgctcaacaccccaacccctgcccaccaggctatgagcccgacgatcaggacagc
tgtgtggatgtggacgagtgtgcccaggccctgcacgactgtcgccccagccaggactgc
cataacttgcctggctcctatcagtgcacctgccctgatggttaccgcaagatcgggccc
gagtgtgtggacatagacgagtgccgctaccgctactgccagcaccgctgcgtgaacctg
cctggctccttccgctgccagtgcgagccgggcttccagctggggcctaacaaccgctcc
tgtgttgatgtgaacgagtgtgacatgggggccccatgcgagcagcgctgcttcaactcc
tatgggaccttcctgtgtcgctgccaccagggctatgagctgcatcgggatggcttctcc
tgcagtgatattgatgagtgtagctactccagctacctctgtcagtaccgctgcatcaac
gagccaggccgtttctcctgccactgcccacagggttaccagctgctggccacacgcctc
tgccaagacattgatgagtgtgagtctggtgcgcaccagtgctccgaggcccaaacctgt
gtcaacttccatgggggctaccgctgcgtggacaccaaccgctgcgtggagccctacatc
caggtctctgagaaccgctgtctctgcccggcctccaaccctctatgtcgagagcagcct
tcatccattgtgcaccgctacatgaccatcacctcggagcggagcgtgcccgctgacgtg
ttccagatccaggcgacctccgtctaccccggtgcctacaatgcctttcagatccgtgct
ggaaactcgcagggggacttttacattaggcaaatcaacaacgtcagcgccatgctggtc
ctcgcccggccggtgacgggcccccgggagtacgtgctggacctggagatggtcaccatg
aattccctcatgagctaccgggccagctctgtactgaggctcaccgtctttgtaggggcc
tacaccttctga

  All links  
Disease (2)   
   OMIM (2)   
Gene (34)   
   RefGene (13)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (16)   
   OC (1)   
Protein sequence (4)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (46)   
   RefSeq(nuc) (2)   
   GenBank (22)   
   EMBL (22)   
3D Structure (1)   
   PDB (1)   
Protein domain (8)   
   Pfam (8)   
All databases (95)   

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