Protein detail
LBN
Limbin (Ellis-van Creveld syndrome protein 2) (EVC2)
Entry name LBN | UniProt ID | EVMP score 0.50 |
Frequency 1 | Transmembrane count 1 | Protein classification Disease related genesHuman disease related genesPredicted membrane proteins |
EVMP score: annotation confidence score.
Extremely high >= 0.85High >= 0.70Medium >= 0.55Low >= 0.40
Basic Information
Protein Names
Limbin (Ellis-van Creveld syndrome protein 2) (EVC2)
Protein Class
Disease related genesHuman disease related genesPredicted membrane proteins
Protein Function
- Disease related genes
- Human disease related genes:Congenital malformations:Congenital malformations of the musculoskeletal system
Transmembrane
301..321; Helical
Transmembrane Count
1
Ensembl
Entrez Gene Symbol
Gene Synonym
LBN
Gene Description
EvC ciliary complex subunit 2
Chromosome
4
Position
5542772-5709548
Frequency
1
EVMP Score
0.50
Fluorescence & Localization
Tissue SpecificbrainCell SpecificAstrocytesBlood Cell Specificmemory B-cellBlood Lineage SpecificB-cellsSecretome LocationSecreted in brainSecretome FunctionDevelopmental protein
Function & Pathway
Protein Function
- Disease related genes
- Human disease related genes:Congenital malformations:Congenital malformations of the musculoskeletal system
Cellular Component
Biological Process
Reactome
Canonical Pathways
- M86 Pid arf6 pathway
- M67 Pid arf6 trafficking pathway
Mediation Categories
Receptor-signaling mediation
Relations & Evidence
Enzyme-Mediated Modification
0 records.
Ligand-Receptor Signaling
24 records.
| Category | Parent | Database | Transmitter | Receiver | Secreted | Plasma Membrane (Transmembrane) | Plasma Membrane (Peripheral) |
|---|---|---|---|---|---|---|---|
| transmembrane_predicted | transmembrane | OmniPath | No | No | No | Yes | No |
| transmembrane | transmembrane | Ramilowski_location | No | No | No | Yes | No |
| transmembrane | transmembrane | OmniPath | No | No | No | Yes | No |
| plasma_membrane | plasma_membrane | UniProt_location | No | No | No | Yes | No |
| plasma_membrane | plasma_membrane | Cellinker | No | No | No | Yes | No |
| plasma_membrane | plasma_membrane | OmniPath | No | No | No | Yes | No |
| plasma_membrane_transmembrane | plasma_membrane_transmembrane | Membranome | No | No | No | Yes | No |
| plasma_membrane_transmembrane | plasma_membrane_transmembrane | OmniPath | No | No | No | Yes | No |
| cell_surface | cell_surface | Surfaceome | No | No | No | Yes | No |
| cell_surface | cell_surface | OmniPath | No | No | No | Yes | No |
Regulatory Interaction Network
1 record.
| Source Protein Symbol | Source UniProt ID | Target Protein Symbol | Target UniProt ID | Is Directed | Is Stimulation | Is Inhibition | Database | References |
|---|---|---|---|---|---|---|---|---|
| SMO | Q99835 | LBN | Q86UK5 | Yes | Yes | No | SignaLink3 | SignaLink3:22986504 |
Protein Complex Composition
0 records.
Isolation & Detection Technology
1 record.
| EV Isolation Method | Detection Method | Number of References | References |
|---|---|---|---|
| Differential Ultracentrifugation | Mass spectrometry | 1 | 38207106 |
Sequence, Structure & Domains
Sequences
Length
1,308
Mass
147,948
Sequence
MDPSGSRGRPTWVLAGGLLAVALALGGRGCLGASSRPRWRPLGAQPPRDPQVAPRSGPGLRIPPGRSGAGPESSTQDLPCMIWPKVECCHFKTAVEAPLGMKLDKKMEVFIPLSTSAASSGPWAHSLFAFIPSWPKKNLFKRESPITHRLYGDISREVQGTSENGVIFQKCALVSGSSEAQTARIWLLVNNTKTTSSANLSELLLLDSIAGLTIWDSVGNRTSEGFQAFSKKFLQVGDAFAVSYAATLQAGDLGNGESLKLPAQLTFQSSSRNRTQLKVLFSITAEENVTVLPHHGLHAAGFFIAFLLSLVLTWAALFLMVRYQCLKGNMLTRHRVWQYESKLEPLPFTSADGVNEDLSLNDQMIDILSSEDPGSMLQALEELEIATLNRADADLEACRTQISKDIIALLLKNLTSSGHLSPQVERKMSAVFKKQFLLLENEIQEEYDRKMVALTAECDLETRKKMENQYQREMMAMEEAEELLKRAGERSAVECSNLLRTLHGLEQEHLRKSLALQQEEDFAKAHRQLAVFQRNELHSIFFTQIKSAIFKGELKPEAAKMLLQNYSKIQENVEELMDFFQASKRYHLSKRFGHREYLVQNLQSSETRVQGLLSTAAAQLTHLIQKHERAGYLDEDQMEMLLERAQTEVFSIKQKLDNDLKQEKKKLHQKLITKRRRELLQKHREQRREQASVGEAFRTVEDAGQYLHQKRSLMEEHGATLEELQERLDQAALDDLRTLTLSLFEKATDELRRLQNSAMTQELLKRGVPWLFLQQILEEHGKEMAARAEQLEGEERDRDQEGVQSVRQRLKDDAPEAVTEEQAELRRWEHLIFMKLCSSVFSLSEEELLRMRQEVHGCFAQMDRSLALPKIRARVLLQQFQTAWREAEFVKLDQAVAAPELQQQSKVRKSRSKSKSKGELLKKCIEDKIHLCEEQASEDLVEKVRGELLRERVQRMEAQEGGFAQSLVALQFQKASRVTETLSAYTALLSIQDLLLEELSASEMLTKSACTQILESHSRELQELERKLEDQLVQQEAAQQQQALASWQQWVADGPGILNEPGEVDSERQVSTVLHQALSKSQTLLEQHQQCLREEQQNSVVLEDLLENMEADTFATLCSQELRLASYLARMAMVPGATLRRLLSVVLPTASQPQLLALLDSATERHVDHAAESDGGAEQADVGRRRKHQSWWQALDGKLRGDLISRGLEKMLWARKRKQSILKKTCLPLRERMIFSGKGSWPHLSLEPIGELAPVPIVGAETIDLLNTGEKLFIFRNPKEPEISLHVPPRKKKNFLNAKKAMRALGMD
Alternative Products
Event=Alternative splicing; Named isoforms=3; Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q86UK5-1; Sequence=Displayed; Name=2; IsoId=Q86UK5-2; Sequence=VSP_008848; Name=3; IsoId=Q86UK5-3; Sequence=VSP_008849
Alternative Sequence
1..80; Missing (in isoform 2); 1220..1308; SILKKTCLPLRERMIFSGKGSWPHLSLEPIGELAPVPIVGAETIDLLNTGEKLFIFRNPKEPEISLHVPPRKKKNFLNAKKAMRALGMD -> RSGNQESFWQYLVGTPEIGLIEWMSEK (in isoform 3)
3D Structural Models
Domain & Motif Annotations
Compositional Bias
784..801; Basic and acidic residues
Coiled Coil
455..578; 636..800; 1001..1113
Region
36..76; Disordered; 784..816; Disordered