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Gene id 30008
Gene Summary    Protein Summary    Gene ontology    Diseases    PubMed    

Gene Summary
Gene Symbol EFEMP2   Gene   UCSC   Ensembl
Aliases ARCL1B, FBLN4, MBP1, UPH1
Gene name EGF containing fibulin extracellular matrix protein 2
Alternate names EGF-containing fibulin-like extracellular matrix protein 2, EGF containing fibulin like extracellular matrix protein 2, FIBL-4, fibulin 4, mutant p53 binding protein 1,
Gene location 11q13.1 (65872799: 65866440)     Exons: 12     NC_000011.10
Gene summary(Entrez) A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fat
OMIM 600311

Protein Summary
Protein general information O95967  

Name: EGF containing fibulin like extracellular matrix protein 2 (Fibulin 4) (FIBL 4) (Protein UPH1)

Length: 443  Mass: 49405

Sequence MLPCASCLPGSLLLWALLLLLLGSASPQDSEEPDSYTECTDGYEWDPDSQHCRDVNECLTIPEACKGEMKCINHY
GGYLCLPRSAAVINDLHGEGPPPPVPPAQHPNPCPPGYEPDDQDSCVDVDECAQALHDCRPSQDCHNLPGSYQCT
CPDGYRKIGPECVDIDECRYRYCQHRCVNLPGSFRCQCEPGFQLGPNNRSCVDVNECDMGAPCEQRCFNSYGTFL
CRCHQGYELHRDGFSCSDIDECSYSSYLCQYRCINEPGRFSCHCPQGYQLLATRLCQDIDECESGAHQCSEAQTC
VNFHGGYRCVDTNRCVEPYIQVSENRCLCPASNPLCREQPSSIVHRYMTITSERSVPADVFQIQATSVYPGAYNA
FQIRAGNSQGDFYIRQINNVSAMLVLARPVTGPREYVLDLEMVTMNSLMSYRASSVLRLTVFVGAYTF
Structural information
Protein Domains
 (36..8-)
(/note="EGF-like-)
(-)
(/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
(123..16-)
(/note="EGF-like-)
(-)
(/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
(164..20-)
(/note="EGF-like-)
(-)
Interpro:  IPR026823  IPR026824  IPR001881  IPR013032  IPR000742  
IPR000152  IPR018097  IPR009030  
Prosite:   PS00010 PS01186 PS50026 PS01187

PDB:  		 2KL7
PDBsum:   2KL7

DIP:  
34518
MINT:  
STRING:   ENSP00000309953
Other Databases GeneCards:  EFEMP2  Malacards:  EFEMP2

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0005509 calcium ion binding
 IEA molecular function
GO:0005615 extracellular space
 IEA cellular component
GO:0048251 elastic fiber assembly
 IEA biological process
GO:0005576 extracellular region
 IEA cellular component
GO:0005201 extracellular matrix stru
ctural constituent
 TAS molecular function
GO:0005604 basement membrane
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005576 extracellular region
 TAS cellular component
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005201 extracellular matrix stru
ctural constituent
 RCA molecular function
GO:0062023 collagen-containing extra
cellular matrix
 HDA cellular component
GO:0005576 extracellular region
 IEA cellular component
GO:0070062 extracellular exosome
 HDA cellular component
GO:0070062 extracellular exosome
 HDA cellular component
GO:1903561 extracellular vesicle
 HDA cellular component

Diseases

Expand All | Collapse All
Associated diseases References
Cutis laxa KEGG:H00557
Cutis laxa KEGG:H00557
Cryptorchidism MIK: 28606200
Hypospermatogenesis MIK: 28361989
Spermatogenic defects MIK: 31037746

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
28606200 Cryptorchi
dism
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
 Male infertility MeDIP-Seq
 Show abstract
28361989 Hyposperma
togenesis
6 (3 controls,
3 Klienfelter s
yndrome
 Male infertility Microarray
 Show abstract
31037746 Spermatoge
nic defect
s
28 men with az
oospermia
 Male infertility Microarray
 Show abstract