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EFEMP2 (EGF containing fibulin extracellular matrix protein 2)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
30008
Gene nameGene Name - the full gene name approved by the HGNC.
EGF containing fibulin extracellular matrix protein 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
EFEMP2
SynonymsGene synonyms aliases
ARCL1B, FBLN4, MBP1, UPH1
ChromosomeChromosome number
11
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.1
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs2234462 C>T Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant, non coding transcript variant
rs119489101 C>T Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs119489102 G>A Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs144320036 G>A,C Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, non coding transcript variant, missense variant
rs148410446 T>C Uncertain-significance, conflicting-interpretations-of-pathogenicity Non coding transcript variant, missense variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT000076 hsa-miR-346 Microarray, qRT-PCR 16822819
MIRT000076 hsa-miR-346 Western blot;Other 21611196
MIRT021872 hsa-miR-128-3p Microarray 17612493
MIRT569889 hsa-miR-4512 PAR-CLIP 20371350
MIRT569888 hsa-miR-3918 PAR-CLIP 20371350
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0001527 Component Microfibril ISS
GO:0005201 Function Extracellular matrix structural constituent RCA 28327460
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 16189514, 16478991, 16713569, 19349279, 19570982, 19855011, 22919265, 23088713, 25416956, 25910212, 26871637, 27339457, 29892012, 32296183, 32814053
GO:0005576 Component Extracellular region TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O95967
Protein name EGF-containing fibulin-like extracellular matrix protein 2 (Fibulin-4) (FIBL-4) (Protein UPH1)
Protein function Plays a crucial role in elastic fiber formation in tissue, and in the formation of ultrastructural connections between elastic laminae and smooth muscle cells in the aorta, therefore participates in terminal differentiation and maturation of smo
PDB 2KL7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07645 EGF_CA
54 → 87
Calcium-binding EGF domain
 Domain
PF07645 EGF_CA
123 → 162
Calcium-binding EGF domain
 Domain
PF12662 cEGF
183 → 206
Complement Clr-like EGF-like
 Domain
PF07645 EGF_CA
283 → 329
Calcium-binding EGF domain
 Domain
Sequence 
MLPCASCLPGSLLLWALLLLLLGSASPQDSEEPDSYTECTDGYEWDPDSQHCRDVNECLT
IPEACKGEMKCINHYGGYLCLPRSAAVINDLHGEGPPPPVPPAQHPNPCPPGYEPDDQDS
CVDVDECAQALHDCRPSQDCHNLPGSYQCTCPDGYRKIGPECVDIDECRYRYCQHRCVNL
PGSFRCQCEPGFQLGPNNRSCVDVNECDMGAPCEQRCFNSYGTFLCRCHQGYELHRDGFS
CSDIDECSYSSYLCQYRCINEPGRFSCHCPQGYQLLATRLCQDIDECESGAHQCSEAQTC
VNFHGGYRCVDTNRCVEPYIQVSENRCLCPASNPLCREQPSSIVHRYMTITSERSVPADV
FQIQATSVYPGAYNAFQIRAGNSQGDFYIRQINNVSAMLVLARPVTGPREYVLDLEMVTM
NSLMSYRASSVLRLTVFVGAYTF
Sequence length 443
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
Reactome
    Molecules associated with elastic fibres
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Aortic aneurysm Aortic Aneurysm rs1555554098, rs267606902, rs121434526, rs121434527, rs121434528, rs387906592, rs387906781, rs387906782, rs397516685, rs397514037, rs112901682, rs397515325, rs397515330, rs794728025, rs112602953, rs794728021, rs8046180, rs797045725, rs876657852, rs878854466, rs886038978, rs746972765, rs886039303, rs886040965, rs886040966, rs886040967, rs886229659, rs1553781304, rs1060502531, rs1553795301, rs1553803235, rs1213452826, rs869025352, rs1553780501, rs1553785222, rs1382893400, rs1554841990, rs1430822242, rs1567692384, rs1576422965, rs1596712899, rs2059732940, rs2041090817, rs1439991530 16685658, 17937443
Basal cell neoplasm Basal Cell Neoplasm, Basal Cell Cancer rs587776578, rs587776579, rs2117956624, rs2118419579, rs2118365442, rs2118041703, rs2136689212, rs2118336503, rs1587692888, rs267606984, rs878853849, rs1554695110, rs1064793921, rs1588605348, rs1588568813 31174203
Carcinoma Basal cell carcinoma rs121912654, rs555607708, rs786202962, rs1564055259 31174203
Congenital diaphragmatic hernia Congenital diaphragmatic hernia rs121908602, rs121908604, rs864309713, rs780263938, rs756636036, rs775394591
Unknown
Disease name Disease term dbSNP ID References
Arachnodactyly Arachnodactyly
Bladder diverticulum Bladder Diverticulum
Bowel diverticulosis Bowel diverticulosis
Congenital pectus excavatum Congenital pectus excavatum

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