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COL2A1 and PKD1
Data Source:
HPRD
(in vitro)
COL2A1
PKD1
Description
collagen type II alpha 1 chain
polycystin 1, transient receptor potential channel interacting
Image
GO Annotations
Cellular Component
Extracellular Region
Collagen Trimer
Collagen Type II Trimer
Basement Membrane
Extracellular Space
Endoplasmic Reticulum Lumen
Extracellular Matrix
Collagen-containing Extracellular Matrix
Golgi Membrane
Polycystin Complex
Nucleus
Cytoplasm
Endoplasmic Reticulum
Golgi Apparatus
Plasma Membrane
Integral Component Of Plasma Membrane
Cilium
Cell Surface
Integral Component Of Membrane
Basolateral Plasma Membrane
Lateral Plasma Membrane
Golgi-associated Vesicle Membrane
Motile Cilium
Cation Channel Complex
Calcium Channel Complex
Ciliary Membrane
Extracellular Exosome
Molecular Function
Extracellular Matrix Structural Constituent
Extracellular Matrix Structural Constituent Conferring Tensile Strength
MHC Class II Protein Binding
Identical Protein Binding
Proteoglycan Binding
Metal Ion Binding
Platelet-derived Growth Factor Binding
Calcium Channel Activity
Protein Binding
Protein Kinase Binding
Protein Domain Specific Binding
Carbohydrate Binding
Wnt-activated Receptor Activity
Ion Channel Binding
Biological Process
Skeletal System Development
Cartilage Condensation
Tissue Homeostasis
Endochondral Ossification
Chondrocyte Differentiation
Heart Morphogenesis
Proteoglycan Metabolic Process
Central Nervous System Development
Visual Perception
Sensory Perception Of Sound
Regulation Of Gene Expression
Extracellular Matrix Organization
Collagen Fibril Organization
Notochord Development
Inner Ear Morphogenesis
Regulation Of Immune Response
Cartilage Development
Roof Of Mouth Development
Limb Bud Formation
Embryonic Skeletal Joint Morphogenesis
Cartilage Development Involved In Endochondral Bone Morphogenesis
Otic Vesicle Development
Cellular Response To BMP Stimulus
Anterior Head Development
Negative Regulation Of Extrinsic Apoptotic Signaling Pathway In Absence Of Ligand
Cartilage Condensation
In Utero Embryonic Development
Kidney Development
Liver Development
Embryonic Placenta Development
Protein Export From Nucleus
Cell Cycle Arrest
Homophilic Cell Adhesion Via Plasma Membrane Adhesion Molecules
Cell-matrix Adhesion
Calcium-independent Cell-matrix Adhesion
Positive Regulation Of Cytosolic Calcium Ion Concentration
Receptor Signaling Pathway Via JAK-STAT
Heart Development
Anatomical Structure Morphogenesis
Wnt Signaling Pathway
Peptidyl-serine Phosphorylation
Spinal Cord Development
Neural Tube Development
Establishment Of Cell Polarity
Regulation Of Cell Adhesion
Positive Regulation Of Protein Binding
Response To Fluid Shear Stress
Lymph Vessel Morphogenesis
Cytoplasmic Sequestering Of Transcription Factor
Skin Development
Positive Regulation Of Cyclin-dependent Protein Serine/threonine Kinase Activity
Positive Regulation Of Transcription By RNA Polymerase II
Digestive Tract Development
Branching Morphogenesis Of An Epithelial Tube
Genitalia Development
Detection Of Mechanical Stimulus
Cartilage Development
Protein Heterotetramerization
Regulation Of Mitotic Spindle Organization
Lung Epithelium Development
Placenta Blood Vessel Development
Regulation Of Proteasomal Protein Catabolic Process
Calcium Ion Transmembrane Transport
Mesonephric Tubule Development
Mesonephric Duct Development
Metanephric Collecting Duct Development
Metanephric Ascending Thin Limb Development
Metanephric Proximal Tubule Development
Metanephric Distal Tubule Morphogenesis
Cell-cell Signaling By Wnt
Regulation Of G1/S Transition Of Mitotic Cell Cycle
Pathways
Collagen degradation
Collagen degradation
Extracellular matrix organization
Collagen biosynthesis and modifying enzymes
Signaling by PDGF
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Assembly of collagen fibrils and other multimeric structures
Integrin cell surface interactions
Integrin cell surface interactions
Non-integrin membrane-ECM interactions
ECM proteoglycans
ECM proteoglycans
NCAM1 interactions
MET activates PTK2 signaling
Collagen chain trimerization
VxPx cargo-targeting to cilium
VxPx cargo-targeting to cilium
Drugs
Collagenase clostridium histolyticum
Diseases
Type II collagenopathies, including: Achondrogenesis II; Hypochondrogenesis; SED congenita; SMED Strudwick type; Kniest dysplasia; Spondyloperipheral dysplasia; Osteoarthritis with mild chondrodysplasia; Stickler syndrome 1; Platyspondylic skeletal dysplasia, Torrance type; Epiphyseal dysplasia, multiple, with myopia and deafness; Czech dysplasia
Vitreoretinal degeneration, including: Stickler syndrome type I (STL1); Stickler syndrome type II (STL2); Snowflake vitreoretinal degeneration (SVD); Wagner syndrome 1 (WGN1); Knobloch syndrome (KNO); Enhanced S-cone syndrome (ESCS); Autosomal dominant vitreoretinochoroidopathy (ADVIRC)
Osteoarthritis with mild chondrodysplasia
Polycystic kidney disease
GWAS
Lymphocyte counts (
32888494
)
Macular thickness (
30535121
)
Monocyte count (
32888494
)
Neutrophil percentage of white cells (
32888494
)
Retinal detachment or retinal break (
31816047
)
Rheumatoid arthritis (
30891314
)
Appendicular lean mass (
33097823
)
Estimated glomerular filtration rate (
31451708
)
Estimated glomerular filtration rate in non-diabetics (
31451708
)
Heel bone mineral density (
30598549
)
Height (
28552196
)
High light scatter reticulocyte count (
32888494
)
Major depressive disorder (
29317602
)
Neutrophil count (
32888494
)
Systolic blood pressure (
30578418
)
Interacting Genes
33 interacting genes:
ANXA5
BGN
BMP2
C1QA
CHAD
COL6A1
COL9A2
COL9A3
COMP
DDR1
FGF7
FN1
HTRA1
HYAL1
ITGA2B
KEAP1
LOXL4
MAG
MATN1
MMP1
MMP13
PCOLCE
PDGFA
PDGFB
PDIA2
PKD1
PRELP
RELA
SPARC
TGFB1
TGFBI
THBS1
TNFRSF10A
30 interacting genes:
ACTN1
ATF7IP
BCAR1
CDH1
COL1A1
COL2A1
CTNNA1
CTNNB1
DES
FN1
HDAC9
JAK2
JUP
KRT18
KRT8
LTB4R2
MARK2
NCF1
NCK2
PIP5K1C
PKD2
PTK2
PTPRG
PXN
RGS7
SIAH1
SRC
TLN1
VCL
VIM
Entrez ID
1280
5310
HPRD ID
00361
03203
Ensembl ID
ENSG00000139219
ENSG00000008710
Uniprot IDs
P02458
P98161
PDB IDs
1U5M
2FSE
2SEB
5NIR
5OCX
5OCY
6BIN
6NIX
1B4R
6A70
Enriched GO Terms of Interacting Partners
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