Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 5764
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol PTN   Gene   UCSC   Ensembl
Aliases HARP, HB-GAM, HBBM, HBGF-8, HBGF8, HBNF, HBNF-1, NEGF1, OSF-1
Gene name pleiotrophin
Alternate names pleiotrophin, heparin affin regulatory protein, heparin-binding brain mitogen, heparin-binding growth factor 8, heparin-binding growth-associated molecule, heparin-binding neurite outgrowth promoting factor, heparin-binding neurite outgrowth-promoting factor 1, ,
Gene location 7q33 (137343864: 137227340)     Exons: 6     NC_000007.14
Gene summary(Entrez) The protein encoded by this gene is a secreted heparin-binding growth factor. The protein has significant roles in cell growth and survival, cell migration, angiogenesis and tumorigenesis. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]
OMIM 162095

Protein Summary

Protein general information P21246  

Name: Pleiotrophin (PTN) (Heparin binding brain mitogen) (HBBM) (Heparin binding growth factor 8) (HBGF 8) (Heparin binding growth associated molecule) (HB GAM) (Heparin binding neurite outgrowth promoting factor 1) (HBNF 1) (Osteoblast specific factor 1) (OSF

Length: 168  Mass: 18,942

Tissue specificity: Osteoblast and brain.

Sequence MQAQQYQQQRRKFAAAFLAFIFILAAVDTAEAGKKEKPEKKVKKSDCGEWQWSVCVPTSGDCGLGTREGTRTGAE
CKQTMKTQRCKIPCNWKKQFGAECKYQFQAWGECDLNTALKTRTGSLKRALHNAECQKTVTISKPCGKLTKPKPQ
AESKKKKKEGKKQEKMLD
Structural information
Interpro:  IPR000762 IPR020090 IPR020091 IPR020089 IPR020092
Prosite:   PS00619 PS00620

Pfam:  
PF01091 PF05196

PDB:  
2N6F
PDBsum:   2N6F

DIP:  
5953
MINT:   1374580
STRING:   ENSP00000341170;
Other Databases GeneCards:  PTN;  Malacards:  PTN

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001889 liver development
IEA biological_process
GO:0004864 protein phosphatase inhib
itor activity
TAS molecular_function
GO:0005604 basement membrane
IEA cellular_component
GO:0005615 extracellular space
TAS cellular_component
GO:0005783 endoplasmic reticulum
IDA cellular_component
GO:0007185 transmembrane receptor pr
otein tyrosine phosphatas
e signaling pathway
TAS biological_process
GO:0007399 nervous system developmen
t
TAS biological_process
GO:0007507 heart development
IEA biological_process
GO:0007612 learning
IEA biological_process
GO:0008083 growth factor activity
IEA molecular_function
GO:0008201 heparin binding
IEA molecular_function
GO:0008284 positive regulation of ce
ll proliferation
TAS biological_process
GO:0008360 regulation of cell shape
IEA biological_process
GO:0009986 cell surface
IEA cellular_component
GO:0010811 positive regulation of ce
ll-substrate adhesion
IEA biological_process
GO:0010976 positive regulation of ne
uron projection developme
nt
IEA biological_process
GO:0014823 response to activity
IEA biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016525 negative regulation of an
giogenesis
IEA biological_process
GO:0021510 spinal cord development
IEA biological_process
GO:0021549 cerebellum development
IEA biological_process
GO:0021794 thalamus development
IEA biological_process
GO:0030282 bone mineralization
IEA biological_process
GO:0030324 lung development
IEA biological_process
GO:0030336 negative regulation of ce
ll migration
IEA biological_process
GO:0031594 neuromuscular junction
IEA cellular_component
GO:0032355 response to estradiol
IEA biological_process
GO:0032570 response to progesterone
IEA biological_process
GO:0034644 cellular response to UV
IEA biological_process
GO:0035373 chondroitin sulfate prote
oglycan binding
IEA molecular_function
GO:0036120 cellular response to plat
elet-derived growth facto
r stimulus
IEA biological_process
GO:0038085 vascular endothelial grow
th factor binding
IEA molecular_function
GO:0042493 response to drug
IEA biological_process
GO:0043065 positive regulation of ap
optotic process
IEA biological_process
GO:0043086 negative regulation of ca
talytic activity
IEA biological_process
GO:0044849 estrous cycle
IEA biological_process
GO:0045446 endothelial cell differen
tiation
IEA biological_process
GO:0045837 negative regulation of me
mbrane potential
IEA biological_process
GO:0048471 perinuclear region of cyt
oplasm
IEA cellular_component
GO:0050680 negative regulation of ep
ithelial cell proliferati
on
IEA biological_process
GO:0051781 positive regulation of ce
ll division
IEA biological_process
GO:0060221 retinal rod cell differen
tiation
IEA biological_process
GO:0060253 negative regulation of gl
ial cell proliferation
IEA biological_process
GO:0060291 long-term synaptic potent
iation
IEA biological_process
GO:0071305 cellular response to vita
min D
IEA biological_process
GO:0071456 cellular response to hypo
xia
IEA biological_process
GO:0072201 negative regulation of me
senchymal cell proliferat
ion
IEA biological_process
GO:1904373 response to kainic acid
IEA biological_process
GO:1904389 rod bipolar cell differen
tiation
IEA biological_process
GO:1904391 response to ciliary neuro
trophic factor
IEA biological_process
GO:1904395 positive regulation of sk
eletal muscle acetylcholi
ne-gated channel clusteri
ng
IEA biological_process
GO:1904397 negative regulation of ne
uromuscular junction deve
lopment
IEA biological_process
GO:1904399 heparan sulfate binding
IEA molecular_function
GO:1990089 response to nerve growth
factor
IEA biological_process
GO:2000347 positive regulation of he
patocyte proliferation
IEA biological_process
GO:0001503 ossification
IEA biological_process
GO:0001889 liver development
IEA biological_process
GO:0004864 protein phosphatase inhib
itor activity
TAS molecular_function
GO:0005539 glycosaminoglycan binding
IEA molecular_function
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
IEA cellular_component
GO:0005604 basement membrane
IEA cellular_component
GO:0005615 extracellular space
TAS cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005783 endoplasmic reticulum
IDA cellular_component
GO:0007185 transmembrane receptor pr
otein tyrosine phosphatas
e signaling pathway
TAS biological_process
GO:0007399 nervous system developmen
t
TAS biological_process
GO:0007420 brain development
IEA biological_process
GO:0007507 heart development
IEA biological_process
GO:0007612 learning
IEA biological_process
GO:0008083 growth factor activity
IEA molecular_function
GO:0008083 growth factor activity
IEA molecular_function
GO:0008083 growth factor activity
IEA molecular_function
GO:0008201 heparin binding
IEA molecular_function
GO:0008201 heparin binding
IEA molecular_function
GO:0008284 positive regulation of ce
ll proliferation
TAS biological_process
GO:0008360 regulation of cell shape
IEA biological_process
GO:0009986 cell surface
IEA cellular_component
GO:0010811 positive regulation of ce
ll-substrate adhesion
IEA biological_process
GO:0010976 positive regulation of ne
uron projection developme
nt
IEA biological_process
GO:0014823 response to activity
IEA biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016525 negative regulation of an
giogenesis
IEA biological_process
GO:0021510 spinal cord development
IEA biological_process
GO:0021549 cerebellum development
IEA biological_process
GO:0021794 thalamus development
IEA biological_process
GO:0030282 bone mineralization
IEA biological_process
GO:0030324 lung development
IEA biological_process
GO:0030336 negative regulation of ce
ll migration
IEA biological_process
GO:0030902 hindbrain development
IEA biological_process
GO:0031594 neuromuscular junction
IEA cellular_component
GO:0032355 response to estradiol
IEA biological_process
GO:0032570 response to progesterone
IEA biological_process
GO:0034644 cellular response to UV
IEA biological_process
GO:0035373 chondroitin sulfate prote
oglycan binding
IEA molecular_function
GO:0036120 cellular response to plat
elet-derived growth facto
r stimulus
IEA biological_process
GO:0038085 vascular endothelial grow
th factor binding
IEA molecular_function
GO:0042493 response to drug
IEA biological_process
GO:0043065 positive regulation of ap
optotic process
IEA biological_process
GO:0043086 negative regulation of ca
talytic activity
IEA biological_process
GO:0043394 proteoglycan binding
IEA molecular_function
GO:0044849 estrous cycle
IEA biological_process
GO:0045446 endothelial cell differen
tiation
IEA biological_process
GO:0045837 negative regulation of me
mbrane potential
IEA biological_process
GO:0048471 perinuclear region of cyt
oplasm
IEA cellular_component
GO:0050680 negative regulation of ep
ithelial cell proliferati
on
IEA biological_process
GO:0051781 positive regulation of ce
ll division
IEA biological_process
GO:0060041 retina development in cam
era-type eye
IEA biological_process
GO:0060221 retinal rod cell differen
tiation
IEA biological_process
GO:0060253 negative regulation of gl
ial cell proliferation
IEA biological_process
GO:0060291 long-term synaptic potent
iation
IEA biological_process
GO:0071305 cellular response to vita
min D
IEA biological_process
GO:0071407 cellular response to orga
nic cyclic compound
IEA biological_process
GO:0071456 cellular response to hypo
xia
IEA biological_process
GO:0072201 negative regulation of me
senchymal cell proliferat
ion
IEA biological_process
GO:1904373 response to kainic acid
IEA biological_process
GO:1904389 rod bipolar cell differen
tiation
IEA biological_process
GO:1904391 response to ciliary neuro
trophic factor
IEA biological_process
GO:1904395 positive regulation of sk
eletal muscle acetylcholi
ne-gated channel clusteri
ng
IEA biological_process
GO:1904397 negative regulation of ne
uromuscular junction deve
lopment
IEA biological_process
GO:1904399 heparan sulfate binding
IEA molecular_function
GO:1990089 response to nerve growth
factor
IEA biological_process
GO:2000347 positive regulation of he
patocyte proliferation
IEA biological_process
GO:0004864 protein phosphatase inhib
itor activity
TAS molecular_function
GO:0005615 extracellular space
TAS cellular_component
GO:0005783 endoplasmic reticulum
IDA cellular_component
GO:0007185 transmembrane receptor pr
otein tyrosine phosphatas
e signaling pathway
TAS biological_process
GO:0007399 nervous system developmen
t
TAS biological_process
GO:0008284 positive regulation of ce
ll proliferation
TAS biological_process

Diseases

Associated diseases References
Endometriosis PMID: 11912283
Endometriosis INFBASE11912283
Psychiatric disorders PMID: 19086053

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
11912283 Endometrio
sis

60 (30 women wi
th severe, stag
es III and IV e
ndometriosis, 3
0 women without
endometriosis)

Show abstract