Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 1270
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol CNTF   Gene   UCSC   Ensembl
Aliases HCNTF
Gene name ciliary neurotrophic factor
Alternate names ciliary neurotrophic factor,
Gene location 11q12.1 (58622672: 58625732)     Exons: 2     NC_000011.10
Gene summary(Entrez) The protein encoded by this gene is a polypeptide hormone whose actions appear to be restricted to the nervous system where it promotes neurotransmitter synthesis and neurite outgrowth in certain neuronal populations. The protein is a potent survival factor for neurons and oligodendrocytes and may be relevant in reducing tissue destruction during inflammatory attacks. A mutation in this gene, which results in aberrant splicing, leads to ciliary neurotrophic factor deficiency, but this phenotype is not causally related to neurologic disease. A read-through transcript variant composed of the upstream ZFP91 gene and CNTF sequence has been identified, but it is thought to be non-coding. Read-through transcription of ZFP91 and CNTF has also been observed in mouse. [provided by RefSeq, Oct 2010]
OMIM 118945

Protein Summary

Protein general information P26441  

Name: Ciliary neurotrophic factor (CNTF)

Length: 200  Mass: 22,931

Tissue specificity: Nervous system.

Sequence MAFTEHSPLTPHRRDLCSRSIWLARKIRSDLTALTESYVKHQGLNKNINLDSADGMPVASTDQWSELTEAERLQE
NLQAYRTFHVLLARLLEDQQVHFTPTEGDFHQAIHTLLLQVAAFAYQIEELMILLEYKIPRNEADGMPINVGDGG
LFEKKLWGLKVLQELSQWTVRSIHDLRFISSHQTGIPARGSHYIANNKKM
Structural information
Interpro:  IPR009079 IPR000151

Pfam:  
PF01110

PDB:  
1CNT
PDBsum:   1CNT

DIP:  
5776
MINT:   205057
STRING:   ENSP00000355370;
Other Databases GeneCards:  CNTF;  Malacards:  CNTF

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005125 cytokine activity
IBA molecular_function
GO:0005127 ciliary neurotrophic fact
or receptor binding
TAS molecular_function
GO:0005138 interleukin-6 receptor bi
nding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005615 extracellular space
IC cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0007165 signal transduction
NAS biological_process
GO:0008083 growth factor activity
IDA molecular_function
GO:0008284 positive regulation of ce
ll proliferation
IBA biological_process
GO:0010628 positive regulation of ge
ne expression
IDA biological_process
GO:0030424 axon
IBA cellular_component
GO:0040007 growth
IEA biological_process
GO:0042517 positive regulation of ty
rosine phosphorylation of
Stat3 protein
IDA biological_process
GO:0042517 positive regulation of ty
rosine phosphorylation of
Stat3 protein
IDA biological_process
GO:0043524 negative regulation of ne
uron apoptotic process
IDA biological_process
GO:0046533 negative regulation of ph
otoreceptor cell differen
tiation
IEA biological_process
GO:0046668 regulation of retinal cel
l programmed cell death
IEA biological_process
GO:0048143 astrocyte activation
IBA biological_process
GO:0048644 muscle organ morphogenesi
s
IEA biological_process
GO:0048666 neuron development
IEA biological_process
GO:0048680 positive regulation of ax
on regeneration
IBA biological_process
GO:0070120 ciliary neurotrophic fact
or-mediated signaling pat
hway
IDA biological_process
GO:0097058 CRLF-CLCF1 complex
IDA cellular_component
GO:0005125 cytokine activity
IBA molecular_function
GO:0005127 ciliary neurotrophic fact
or receptor binding
TAS molecular_function
GO:0005138 interleukin-6 receptor bi
nding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005615 extracellular space
IEA cellular_component
GO:0005615 extracellular space
IC cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0007165 signal transduction
NAS biological_process
GO:0007275 multicellular organism de
velopment
IEA biological_process
GO:0007399 nervous system developmen
t
IEA biological_process
GO:0008083 growth factor activity
IEA molecular_function
GO:0008083 growth factor activity
IDA molecular_function
GO:0008284 positive regulation of ce
ll proliferation
IEA biological_process
GO:0008284 positive regulation of ce
ll proliferation
IBA biological_process
GO:0010628 positive regulation of ge
ne expression
IDA biological_process
GO:0030154 cell differentiation
IEA biological_process
GO:0030424 axon
IBA cellular_component
GO:0040007 growth
IEA biological_process
GO:0042517 positive regulation of ty
rosine phosphorylation of
Stat3 protein
IEA biological_process
GO:0042517 positive regulation of ty
rosine phosphorylation of
Stat3 protein
IDA biological_process
GO:0042517 positive regulation of ty
rosine phosphorylation of
Stat3 protein
IDA biological_process
GO:0043524 negative regulation of ne
uron apoptotic process
IDA biological_process
GO:0046533 negative regulation of ph
otoreceptor cell differen
tiation
IEA biological_process
GO:0046668 regulation of retinal cel
l programmed cell death
IEA biological_process
GO:0048143 astrocyte activation
IBA biological_process
GO:0048644 muscle organ morphogenesi
s
IEA biological_process
GO:0048666 neuron development
IEA biological_process
GO:0048680 positive regulation of ax
on regeneration
IBA biological_process
GO:0070120 ciliary neurotrophic fact
or-mediated signaling pat
hway
IDA biological_process
GO:0097058 CRLF-CLCF1 complex
IDA cellular_component
GO:0005125 cytokine activity
IBA molecular_function
GO:0005127 ciliary neurotrophic fact
or receptor binding
TAS molecular_function
GO:0005138 interleukin-6 receptor bi
nding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005615 extracellular space
IC cellular_component
GO:0007165 signal transduction
NAS biological_process
GO:0008083 growth factor activity
IDA molecular_function
GO:0008284 positive regulation of ce
ll proliferation
IBA biological_process
GO:0010628 positive regulation of ge
ne expression
IDA biological_process
GO:0030424 axon
IBA cellular_component
GO:0042517 positive regulation of ty
rosine phosphorylation of
Stat3 protein
IDA biological_process
GO:0042517 positive regulation of ty
rosine phosphorylation of
Stat3 protein
IDA biological_process
GO:0043524 negative regulation of ne
uron apoptotic process
IDA biological_process
GO:0048143 astrocyte activation
IBA biological_process
GO:0048680 positive regulation of ax
on regeneration
IBA biological_process
GO:0070120 ciliary neurotrophic fact
or-mediated signaling pat
hway
IDA biological_process
GO:0097058 CRLF-CLCF1 complex
IDA cellular_component

KEGG pathways

hsa04060  Cytokine-cytokine receptor interaction
hsa04630  Jak-STAT signaling pathway

Diseases

Associated diseases References
Endometriosis (Pelvic) PMID: 12890930
Depression PMID: 16797081
Multiple sclerosis PMID: 11890844
Obesity PMID: 9628240
Pelvic endometriosis PMID: 12890930
Pelvic endometriosis PMID: 12890930
Psychiatric disorders PMID: 8834105
Schizophrenia PMID: 9247976
Pelvic endometriosis INFBASE12890930

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
12890930 Endometrio
sis (Pelvi
c)

51 (31 women wi
th endometriosi
s, 20 women wit
hout endometrio
sis)
CNTF
Show abstract