Endometriosis Knowledgebase

Search Result

Gene id

3976

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

LIF Gene UCSC Ensembl

Aliases

CDF, DIA, HILDA, MLPLI

Gene name

LIF, interleukin 6 family cytokine

Alternate names

leukemia inhibitory factor, D factor, cholinergic differentiation factor, differentiation inhibitory activity, differentiation-inducing factor, differentiation-stimulating factor, hepatocyte-stimulating factor III, human interleukin in DA cells, melanoma-derived ,

Gene location

22q12.2 (30246850: 30240446) Exons: 3 NC_000022.11

Gene summary(Entrez)

The protein encoded by this gene is a pleiotropic cytokine with roles in several different systems. It is involved in the induction of hematopoietic differentiation in normal and myeloid leukemia cells, induction of neuronal cell differentiation, regulator of mesenchymal to epithelial conversion during kidney development, and may also have a role in immune tolerance at the maternal-fetal interface. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]

OMIM

159540

SNPs

rs929271

Strand: +   Allele origin: unknown  Allele change: G/T   Mutation type: snp

NC_000022.11   g.30242237T>G
NC_000022.10   g.30638226T>G
NG_008721.1   g.9571A>C
NM_001257135.1   c.*1577A>C
NM_002309.4   c.*1414A>C
XM_005261601.1   c.*1414A>C

Protein Summary

Protein general information

P15018

Name: Leukemia inhibitory factor (LIF) (Differentiation stimulating factor) (D factor) (Melanoma derived LPL inhibitor) (MLPLI) (Emfilermin)

Length: 202 Mass: 22,008

Sequence

MKVLAAGVVPLLLVLHWKHGAGSPLPITPVNATCAIRHPCHNNLMNQIRSQLAQLNGSANALFILYYTAQGEPFP
NNLDKLCGPNVTDFPPFHANGTEKAKLVELYRIVVYLGTSLGNITRDQKILNPSALSLHSKLNATADILRGLLSN
VLCRLCSKYHVGHVDVTYGPDTSGKDVFQKKKLGCQLLGKYKQIIAVLAQAF

Structural information

Interpro:	IPR009079 IPR003624 IPR001581 IPR019827
Prosite:	PS00590
Pfam:	PF01291
PDB:	1EMR 1PVH 2Q7N
PDBsum:	1EMR 1PVH 2Q7N
DIP:	5769
MINT:	1352030
STRING:	ENSP00000249075;

Other Databases

GeneCards: LIF; Malacards: LIF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001135	transcription factor acti vity, RNA polymerase II t ranscription factor recru iting	IDA	molecular_function
GO:0001974	blood vessel remodeling	IEA	biological_process
GO:0005102	receptor binding	IPI	molecular_function
GO:0005125	cytokine activity	IDA	molecular_function
GO:0005146	leukemia inhibitory facto r receptor binding	IDA	molecular_function
GO:0005146	leukemia inhibitory facto r receptor binding	IPI	molecular_function
GO:0005515	protein binding	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:0005615	extracellular space	IC	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0006955	immune response	IEA	biological_process
GO:0007275	multicellular organism de velopment	TAS	biological_process
GO:0007566	embryo implantation	IEA	biological_process
GO:0008083	growth factor activity	IDA	molecular_function
GO:0008083	growth factor activity	IDA	molecular_function
GO:0008083	growth factor activity	IDA	molecular_function
GO:0008284	positive regulation of ce ll proliferation	IDA	biological_process
GO:0008284	positive regulation of ce ll proliferation	IDA	biological_process
GO:0008285	negative regulation of ce ll proliferation	IEA	biological_process
GO:0010976	positive regulation of ne uron projection developme nt	IEA	biological_process
GO:0016525	negative regulation of an giogenesis	IEA	biological_process
GO:0019827	stem cell population main tenance	IEA	biological_process
GO:0031100	animal organ regeneration	IEA	biological_process
GO:0033138	positive regulation of pe ptidyl-serine phosphoryla tion	IDA	biological_process
GO:0033141	positive regulation of pe ptidyl-serine phosphoryla tion of STAT protein	IDA	biological_process
GO:0042503	tyrosine phosphorylation of Stat3 protein	IEA	biological_process
GO:0042511	positive regulation of ty rosine phosphorylation of Stat1 protein	IDA	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:0042517	positive regulation of ty rosine phosphorylation of Stat3 protein	IDA	biological_process
GO:0043410	positive regulation of MA PK cascade	IDA	biological_process
GO:0045651	positive regulation of ma crophage differentiation	IDA	biological_process
GO:0045835	negative regulation of me iotic nuclear division	IEA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0046697	decidualization	IEA	biological_process
GO:0046888	negative regulation of ho rmone secretion	IDA	biological_process
GO:0048286	lung alveolus development	IEA	biological_process
GO:0048644	muscle organ morphogenesi s	IEA	biological_process
GO:0048666	neuron development	IEA	biological_process
GO:0048708	astrocyte differentiation	IEA	biological_process
GO:0048711	positive regulation of as trocyte differentiation	IEA	biological_process
GO:0048861	leukemia inhibitory facto r signaling pathway	IDA	biological_process
GO:0048861	leukemia inhibitory facto r signaling pathway	IDA	biological_process
GO:0048863	stem cell differentiation	IEA	biological_process
GO:0050731	positive regulation of pe ptidyl-tyrosine phosphory lation	IDA	biological_process
GO:0051461	positive regulation of co rticotropin secretion	IEA	biological_process
GO:0060041	retina development in cam era-type eye	IEA	biological_process
GO:0060290	transdifferentiation	IEA	biological_process
GO:0060426	lung vasculature developm ent	IEA	biological_process
GO:0060463	lung lobe morphogenesis	IEA	biological_process
GO:0060707	trophoblast giant cell di fferentiation	IEA	biological_process
GO:0060708	spongiotrophoblast differ entiation	IEA	biological_process
GO:0070373	negative regulation of ER K1 and ERK2 cascade	IEA	biological_process
GO:0072108	positive regulation of me senchymal to epithelial t ransition involved in met anephros morphogenesis	IDA	biological_process
GO:0072307	regulation of metanephric nephron tubule epithelia l cell differentiation	IDA	biological_process
GO:1900182	positive regulation of pr otein localization to nuc leus	IDA	biological_process
GO:1901676	positive regulation of hi stone H3-K27 acetylation	IDA	biological_process
GO:1903025	regulation of RNA polymer ase II regulatory region sequence-specific DNA bin ding	IEA	biological_process
GO:0001135	transcription factor acti vity, RNA polymerase II t ranscription factor recru iting	IDA	molecular_function
GO:0001974	blood vessel remodeling	IEA	biological_process
GO:0005102	receptor binding	IPI	molecular_function
GO:0005125	cytokine activity	IEA	molecular_function
GO:0005125	cytokine activity	IEA	molecular_function
GO:0005125	cytokine activity	IEA	molecular_function
GO:0005125	cytokine activity	IDA	molecular_function
GO:0005146	leukemia inhibitory facto r receptor binding	IEA	molecular_function
GO:0005146	leukemia inhibitory facto r receptor binding	IEA	molecular_function
GO:0005146	leukemia inhibitory facto r receptor binding	IDA	molecular_function
GO:0005146	leukemia inhibitory facto r receptor binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	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	IEA	cellular_component
GO:0005615	extracellular space	IC	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0006955	immune response	IEA	biological_process
GO:0007275	multicellular organism de velopment	TAS	biological_process
GO:0007566	embryo implantation	IEA	biological_process
GO:0008083	growth factor activity	IEA	molecular_function
GO:0008083	growth factor activity	IEA	molecular_function
GO:0008083	growth factor activity	IDA	molecular_function
GO:0008083	growth factor activity	IDA	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	TAS	biological_process
GO:0008284	positive regulation of ce ll proliferation	IDA	biological_process
GO:0008284	positive regulation of ce ll proliferation	IDA	biological_process
GO:0008285	negative regulation of ce ll proliferation	IEA	biological_process
GO:0010628	positive regulation of ge ne expression	IEA	biological_process
GO:0010976	positive regulation of ne uron projection developme nt	IEA	biological_process
GO:0016525	negative regulation of an giogenesis	IEA	biological_process
GO:0019827	stem cell population main tenance	IEA	biological_process
GO:0030324	lung development	IEA	biological_process
GO:0031100	animal organ regeneration	IEA	biological_process
GO:0033138	positive regulation of pe ptidyl-serine phosphoryla tion	IDA	biological_process
GO:0033141	positive regulation of pe ptidyl-serine phosphoryla tion of STAT protein	IDA	biological_process
GO:0042503	tyrosine phosphorylation of Stat3 protein	IEA	biological_process
GO:0042511	positive regulation of ty rosine phosphorylation of Stat1 protein	IDA	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:0042517	positive regulation of ty rosine phosphorylation of Stat3 protein	IDA	biological_process
GO:0043410	positive regulation of MA PK cascade	IDA	biological_process
GO:0045595	regulation of cell differ entiation	IEA	biological_process
GO:0045651	positive regulation of ma crophage differentiation	IDA	biological_process
GO:0045835	negative regulation of me iotic nuclear division	IEA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0046697	decidualization	IEA	biological_process
GO:0046888	negative regulation of ho rmone secretion	IDA	biological_process
GO:0048286	lung alveolus development	IEA	biological_process
GO:0048644	muscle organ morphogenesi s	IEA	biological_process
GO:0048666	neuron development	IEA	biological_process
GO:0048708	astrocyte differentiation	IEA	biological_process
GO:0048711	positive regulation of as trocyte differentiation	IEA	biological_process
GO:0048861	leukemia inhibitory facto r signaling pathway	IDA	biological_process
GO:0048861	leukemia inhibitory facto r signaling pathway	IDA	biological_process
GO:0048863	stem cell differentiation	IEA	biological_process
GO:0050731	positive regulation of pe ptidyl-tyrosine phosphory lation	IDA	biological_process
GO:0051461	positive regulation of co rticotropin secretion	IEA	biological_process
GO:0060041	retina development in cam era-type eye	IEA	biological_process
GO:0060135	maternal process involved in female pregnancy	IEA	biological_process
GO:0060290	transdifferentiation	IEA	biological_process
GO:0060426	lung vasculature developm ent	IEA	biological_process
GO:0060463	lung lobe morphogenesis	IEA	biological_process
GO:0060707	trophoblast giant cell di fferentiation	IEA	biological_process
GO:0060708	spongiotrophoblast differ entiation	IEA	biological_process
GO:0070373	negative regulation of ER K1 and ERK2 cascade	IEA	biological_process
GO:0072108	positive regulation of me senchymal to epithelial t ransition involved in met anephros morphogenesis	IDA	biological_process
GO:0072307	regulation of metanephric nephron tubule epithelia l cell differentiation	IDA	biological_process
GO:1900182	positive regulation of pr otein localization to nuc leus	IDA	biological_process
GO:1901676	positive regulation of hi stone H3-K27 acetylation	IDA	biological_process
GO:1903025	regulation of RNA polymer ase II regulatory region sequence-specific DNA bin ding	IEA	biological_process
GO:0001135	transcription factor acti vity, RNA polymerase II t ranscription factor recru iting	IDA	molecular_function
GO:0005102	receptor binding	IPI	molecular_function
GO:0005125	cytokine activity	IDA	molecular_function
GO:0005146	leukemia inhibitory facto r receptor binding	IDA	molecular_function
GO:0005146	leukemia inhibitory facto r receptor binding	IPI	molecular_function
GO:0005515	protein binding	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:0005615	extracellular space	IC	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0007275	multicellular organism de velopment	TAS	biological_process
GO:0008083	growth factor activity	IDA	molecular_function
GO:0008083	growth factor activity	IDA	molecular_function
GO:0008083	growth factor activity	IDA	molecular_function
GO:0008284	positive regulation of ce ll proliferation	TAS	biological_process
GO:0008284	positive regulation of ce ll proliferation	IDA	biological_process
GO:0008284	positive regulation of ce ll proliferation	IDA	biological_process
GO:0033138	positive regulation of pe ptidyl-serine phosphoryla tion	IDA	biological_process
GO:0033141	positive regulation of pe ptidyl-serine phosphoryla tion of STAT protein	IDA	biological_process
GO:0042511	positive regulation of ty rosine phosphorylation of Stat1 protein	IDA	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:0042517	positive regulation of ty rosine phosphorylation of Stat3 protein	IDA	biological_process
GO:0043410	positive regulation of MA PK cascade	IDA	biological_process
GO:0045651	positive regulation of ma crophage differentiation	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0046888	negative regulation of ho rmone secretion	IDA	biological_process
GO:0048861	leukemia inhibitory facto r signaling pathway	IDA	biological_process
GO:0048861	leukemia inhibitory facto r signaling pathway	IDA	biological_process
GO:0050731	positive regulation of pe ptidyl-tyrosine phosphory lation	IDA	biological_process
GO:0072108	positive regulation of me senchymal to epithelial t ransition involved in met anephros morphogenesis	IDA	biological_process
GO:0072307	regulation of metanephric nephron tubule epithelia l cell differentiation	IDA	biological_process
GO:1900182	positive regulation of pr otein localization to nuc leus	IDA	biological_process
GO:1901676	positive regulation of hi stone H3-K27 acetylation	IDA	biological_process

KEGG pathways

hsa04060  Cytokine-cytokine receptor interaction
hsa04630  Jak-STAT signaling pathway
hsa04668  TNF signaling pathway
hsa04550  Signaling pathways regulating pluripotency of stem cells

Diseases

Associated diseases	References
Adenomyosis	PMID: 19361790
Blocking implantation	PMID: 19213836
Cleft lip	PMID: 11587067
Dementia	PMID: 19550366
Embryo implantation	PMID: 23876532
Endometrial receptivity	PMID: 15142989
Endometriosis	PMID: 16274610
Female infertility	PMID: 20576636
Hydrosalpinx	PMID: 16024536
Hyperandrogenism	PMID: 21411543
Implantation failure	PMID: 10341007
Multiple implantation failure	PMID: 23541977
Multiple sclerosis	PMID: 19251277
Female infertility	INFBASE25631342
Unexplained�infertility	INFBASE19545488
Endometriosis associated infertility	INFBASE16310857
Endometriosis	INFBASE16310857
Polycystic ovary syndrome (PCOS)	PMID: 23900753
Primary unexplained infertility	PMID: 12161539
Psychiatric disorders	PMID: 19086053
Recurrent implantation failure (RIF)	PMID: 22537815
Recurrent miscarriage	PMID: 26368793
Schizophrenia	PMID: 19879916
Unexplained infertility	PMID: 14687743

PubMed references

PMID	Condition	Population details	Infertility_type	Associated_genes	Abstract
25631342	Endometrio sis	89 (65 women in vestigated for secondary infer tility, 23 cont rols)	Female infertility	IL-1A IL-6 LIF LIFR and gp130	Show abstract
16310857	Endometrio sis	15 (8 controls, 7 patients wit h endometriosis )	Female infertility	IL-11 IL-11Ralpha and LIF	Show abstract
19545488	Endometrio sis	151 (15 inferti le patients (7 idiopathic infe rtility and end ometriosis, 8 p atients with po lycystic ovary syndrome (PCOS) , andrological factor, tubal f actor and hyper prolactinaemia) , 136 infertile women with no LIF gene mutati on (37 idiopath ic infertility	Female infertility		Show abstract
21987111	Endometrio sis	16 (8 with endo metriosis, 8 fe rtile controls)		HOXA11 LIF and BTEB1	Show abstract
28433374	Endometrio sis	107 female infe rtility	Female infertility		Show abstract