KEGG   Homo sapiens (human): 30008
Entry
30008             CDS       T01001                                 

Gene name
EFEMP2, ARCL1B, FBLN4, MBP1, UPH1
Definition
(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 FXa_inhibition EGF_3 EGF hEGF Adipogenin
Other DBs
NCBI-GeneID: 30008
NCBI-ProteinID: NP_058634
OMIM: 604633
HGNC: 3219
Ensembl: ENSG00000172638
Vega: OTTHUMG00000166664
Pharos: O95967(Tbio)
UniProt: O95967 A0A024R5G1 Q9H3D5
Structure
PDB: 
2KL7

Position
11q13.1
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  
Ontology (3)   
   KEGG BRITE (3)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (37)   
   KEGG ORTHOLOGY (1)   
   RefGene (13)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (16)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (5)   
   UniProt (3)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (46)   
   RefSeq(nuc) (2)   
   GenBank (22)   
   EMBL (22)   
Protein domain (7)   
   Pfam (7)   
All databases (102)   

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