UniProtKB - O00292 (LFTY2_HUMAN)
Protein
Left-right determination factor 2
Gene
LEFTY2
Organism
Homo sapiens (Human)
Status
Functioni
Required for left-right (L-R) asymmetry determination of organ systems in mammals. May play a role in endometrial bleeding.
GO - Molecular functioni
- cytokine activity Source: GO_Central
- growth factor activity Source: UniProtKB-KW
- transforming growth factor beta receptor binding Source: InterPro
GO - Biological processi
- BMP signaling pathway Source: GO_Central
- multicellular organism development Source: ProtInc
- platelet degranulation Source: Reactome
- positive regulation of pathway-restricted SMAD protein phosphorylation Source: GO_Central
- SMAD protein signal transduction Source: GO_Central
- transforming growth factor beta receptor signaling pathway Source: ProtInc
Keywordsi
Molecular function | Cytokine, Developmental protein, Growth factor |
Enzyme and pathway databases
PathwayCommonsi | O00292 |
Reactomei | R-HSA-114608, Platelet degranulation R-HSA-1181150, Signaling by NODAL R-HSA-1433617, Regulation of signaling by NODAL |
SIGNORi | O00292 |
Names & Taxonomyi
Protein namesi | Recommended name: Left-right determination factor 2Alternative name(s): Endometrial bleeding-associated factor Left-right determination factor A Protein lefty-2 Protein lefty-A Transforming growth factor beta-4 Short name: TGF-beta-4 |
Gene namesi | Name:LEFTY2 Synonyms:EBAF, LEFTA, LEFTYA, TGFB4 ORF Names:PSEC0024 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000143768.11 |
HGNCi | HGNC:3122, LEFTY2 |
MIMi | 601877, gene+phenotype |
neXtProti | NX_O00292 |
Subcellular locationi
Extracellular region or secreted
Extracellular region or secreted
- collagen-containing extracellular matrix Source: UniProtKB
- extracellular region Source: Reactome
- extracellular space Source: GO_Central
Other locations
- platelet alpha granule lumen Source: Reactome
Keywords - Cellular componenti
SecretedPathology & Biotechi
Involvement in diseasei
Left-right axis malformations (LRAM)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionThe defect includes left pulmonary isomerism, with cardiac anomalies characterized by complete atrioventricular canal defect and hypoplastic left ventricle, and interrupted inferior vena cava.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_010385 | 342 | S → N in LRAM. 1 PublicationCorresponds to variant dbSNP:rs121909126EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutation, HeterotaxyOrganism-specific databases
DisGeNETi | 7044 |
MalaCardsi | LEFTY2 |
MIMi | 601877, gene+phenotype |
OpenTargetsi | ENSG00000143768 |
Orphaneti | 157769, Situs ambiguus |
PharmGKBi | PA27580 |
Miscellaneous databases
Pharosi | O00292, Tbio |
Polymorphism and mutation databases
BioMutai | LEFTY2 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 21 | Sequence analysisAdd BLAST | 21 | |
PropeptideiPRO_0000033806 | 22 – 76 | Or 135Sequence analysisAdd BLAST | 55 | |
ChainiPRO_0000033807 | 77 – 366 | Left-right determination factor 2Add BLAST | 290 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 158 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 251 ↔ 264 | By similarity | ||
Disulfide bondi | 263 ↔ 316 | By similarity | ||
Disulfide bondi | 293 ↔ 351 | By similarity | ||
Disulfide bondi | 297 ↔ 353 | By similarity |
Post-translational modificationi
The processing of the protein may also occur at the second R-X-X-R site located at AA 132-135. Processing appears to be regulated in a cell-type specific manner.
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
EPDi | O00292 |
jPOSTi | O00292 |
MassIVEi | O00292 |
PaxDbi | O00292 |
PeptideAtlasi | O00292 |
PRIDEi | O00292 |
ProteomicsDBi | 19703 47824 [O00292-1] |
PTM databases
GlyGeni | O00292, 1 site |
iPTMneti | O00292 |
PhosphoSitePlusi | O00292 |
Expressioni
Tissue specificityi
Mesenchymal cells of the endometrial stroma.
Developmental stagei
Transiently expressed before and during menstrual bleeding.
Gene expression databases
Bgeei | ENSG00000143768, Expressed in decidua and 134 other tissues |
ExpressionAtlasi | O00292, baseline and differential |
Genevisiblei | O00292, HS |
Organism-specific databases
HPAi | ENSG00000143768, Group enriched (endometrium, ovary) |
Interactioni
GO - Molecular functioni
- cytokine activity Source: GO_Central
- growth factor activity Source: UniProtKB-KW
- transforming growth factor beta receptor binding Source: InterPro
Protein-protein interaction databases
BioGRIDi | 112902, 3 interactors |
IntActi | O00292, 3 interactors |
STRINGi | 9606.ENSP00000355785 |
Miscellaneous databases
RNActi | O00292, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the TGF-beta family.Curated
Keywords - Domaini
SignalPhylogenomic databases
eggNOGi | KOG3900, Eukaryota |
GeneTreei | ENSGT00390000010056 |
HOGENOMi | CLU_064098_0_0_1 |
InParanoidi | O00292 |
OMAi | KDTCCRE |
PhylomeDBi | O00292 |
TreeFami | TF106462 |
Family and domain databases
Gene3Di | 2.10.90.10, 1 hit |
InterProi | View protein in InterPro IPR029034, Cystine-knot_cytokine IPR003942, LRDF IPR001839, TGF-b_C IPR001111, TGF-b_propeptide IPR015615, TGF-beta-rel IPR017948, TGFb_CS |
PANTHERi | PTHR11848, PTHR11848, 1 hit |
Pfami | View protein in Pfam PF00019, TGF_beta, 1 hit PF00688, TGFb_propeptide, 1 hit |
PIRSFi | PIRSF037402, TGFb4, 1 hit |
PRINTSi | PR01427, TGFBETA4 |
SMARTi | View protein in SMART SM00204, TGFB, 1 hit |
SUPFAMi | SSF57501, SSF57501, 1 hit |
PROSITEi | View protein in PROSITE PS00250, TGF_BETA_1, 1 hit PS51362, TGF_BETA_2, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: O00292-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MWPLWLCWAL WVLPLAGPGA ALTEEQLLGS LLRQLQLSEV PVLDRADMEK
60 70 80 90 100
LVIPAHVRAQ YVVLLRRSHG DRSRGKRFSQ SFREVAGRFL ASEASTHLLV
110 120 130 140 150
FGMEQRLPPN SELVQAVLRL FQEPVPKAAL HRHGRLSPRS AQARVTVEWL
160 170 180 190 200
RVRDDGSNRT SLIDSRLVSV HESGWKAFDV TEAVNFWQQL SRPRQPLLLQ
210 220 230 240 250
VSVQREHLGP LASGAHKLVR FASQGAPAGL GEPQLELHTL DLRDYGAQGD
260 270 280 290 300
CDPEAPMTEG TRCCRQEMYI DLQGMKWAKN WVLEPPGFLA YECVGTCQQP
310 320 330 340 350
PEALAFNWPF LGPRQCIASE TASLPMIVSI KEGGRTRPQV VSLPNMRVQK
360
CSCASDGALV PRRLQP
Sequence cautioni
The sequence AAB53269 differs from that shown. Authors have revised their sequence, but have not submitted the revised DNA sequence.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 132 | R → G in BAG65344 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 183 | A → P in BAC11556 (PubMed:16303743).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_021980 | 92 | S → L. Corresponds to variant dbSNP:rs366439EnsemblClinVar. | 1 | |
Natural variantiVAR_021981 | 286 | P → L. Corresponds to variant dbSNP:rs2295418EnsemblClinVar. | 1 | |
Natural variantiVAR_010385 | 342 | S → N in LRAM. 1 PublicationCorresponds to variant dbSNP:rs121909126EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_045264 | 94 – 127 | Missing in isoform 2. 1 PublicationAdd BLAST | 34 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U81523 mRNA Translation: AAB53269.1 Sequence problems. AF081511 , AF081508, AF081509, AF081510 Genomic DNA Translation: AAC32600.1 AF081513 mRNA Translation: AAD48145.1 AK027520 mRNA Translation: BAG51336.1 AK075344 mRNA Translation: BAC11556.1 AK304549 mRNA Translation: BAG65344.1 AL117348 Genomic DNA No translation available. BC035718 mRNA Translation: AAH35718.1 |
CCDSi | CCDS1549.1 [O00292-1] CCDS53479.1 [O00292-2] |
RefSeqi | NP_001165896.1, NM_001172425.2 [O00292-2] NP_003231.2, NM_003240.4 [O00292-1] |
Genome annotation databases
Ensembli | ENST00000366820; ENSP00000355785; ENSG00000143768 [O00292-1] ENST00000420304; ENSP00000388009; ENSG00000143768 [O00292-2] |
GeneIDi | 7044 |
KEGGi | hsa:7044 |
UCSCi | uc001hpt.3, human [O00292-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U81523 mRNA Translation: AAB53269.1 Sequence problems. AF081511 , AF081508, AF081509, AF081510 Genomic DNA Translation: AAC32600.1 AF081513 mRNA Translation: AAD48145.1 AK027520 mRNA Translation: BAG51336.1 AK075344 mRNA Translation: BAC11556.1 AK304549 mRNA Translation: BAG65344.1 AL117348 Genomic DNA No translation available. BC035718 mRNA Translation: AAH35718.1 |
CCDSi | CCDS1549.1 [O00292-1] CCDS53479.1 [O00292-2] |
RefSeqi | NP_001165896.1, NM_001172425.2 [O00292-2] NP_003231.2, NM_003240.4 [O00292-1] |
3D structure databases
SMRi | O00292 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 112902, 3 interactors |
IntActi | O00292, 3 interactors |
STRINGi | 9606.ENSP00000355785 |
PTM databases
GlyGeni | O00292, 1 site |
iPTMneti | O00292 |
PhosphoSitePlusi | O00292 |
Polymorphism and mutation databases
BioMutai | LEFTY2 |
Proteomic databases
EPDi | O00292 |
jPOSTi | O00292 |
MassIVEi | O00292 |
PaxDbi | O00292 |
PeptideAtlasi | O00292 |
PRIDEi | O00292 |
ProteomicsDBi | 19703 47824 [O00292-1] |
Protocols and materials databases
Antibodypediai | 20763, 279 antibodies |
Genome annotation databases
Ensembli | ENST00000366820; ENSP00000355785; ENSG00000143768 [O00292-1] ENST00000420304; ENSP00000388009; ENSG00000143768 [O00292-2] |
GeneIDi | 7044 |
KEGGi | hsa:7044 |
UCSCi | uc001hpt.3, human [O00292-1] |
Organism-specific databases
CTDi | 7044 |
DisGeNETi | 7044 |
EuPathDBi | HostDB:ENSG00000143768.11 |
GeneCardsi | LEFTY2 |
HGNCi | HGNC:3122, LEFTY2 |
HPAi | ENSG00000143768, Group enriched (endometrium, ovary) |
MalaCardsi | LEFTY2 |
MIMi | 601877, gene+phenotype |
neXtProti | NX_O00292 |
OpenTargetsi | ENSG00000143768 |
Orphaneti | 157769, Situs ambiguus |
PharmGKBi | PA27580 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3900, Eukaryota |
GeneTreei | ENSGT00390000010056 |
HOGENOMi | CLU_064098_0_0_1 |
InParanoidi | O00292 |
OMAi | KDTCCRE |
PhylomeDBi | O00292 |
TreeFami | TF106462 |
Enzyme and pathway databases
PathwayCommonsi | O00292 |
Reactomei | R-HSA-114608, Platelet degranulation R-HSA-1181150, Signaling by NODAL R-HSA-1433617, Regulation of signaling by NODAL |
SIGNORi | O00292 |
Miscellaneous databases
BioGRID-ORCSi | 7044, 3 hits in 840 CRISPR screens |
ChiTaRSi | LEFTY2, human |
GenomeRNAii | 7044 |
Pharosi | O00292, Tbio |
PROi | PR:O00292 |
RNActi | O00292, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000143768, Expressed in decidua and 134 other tissues |
ExpressionAtlasi | O00292, baseline and differential |
Genevisiblei | O00292, HS |
Family and domain databases
Gene3Di | 2.10.90.10, 1 hit |
InterProi | View protein in InterPro IPR029034, Cystine-knot_cytokine IPR003942, LRDF IPR001839, TGF-b_C IPR001111, TGF-b_propeptide IPR015615, TGF-beta-rel IPR017948, TGFb_CS |
PANTHERi | PTHR11848, PTHR11848, 1 hit |
Pfami | View protein in Pfam PF00019, TGF_beta, 1 hit PF00688, TGFb_propeptide, 1 hit |
PIRSFi | PIRSF037402, TGFb4, 1 hit |
PRINTSi | PR01427, TGFBETA4 |
SMARTi | View protein in SMART SM00204, TGFB, 1 hit |
SUPFAMi | SSF57501, SSF57501, 1 hit |
PROSITEi | View protein in PROSITE PS00250, TGF_BETA_1, 1 hit PS51362, TGF_BETA_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | LFTY2_HUMAN | |
Accessioni | O00292Primary (citable) accession number: O00292 Secondary accession number(s): B3KNH4 Q8NBQ9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | February 21, 2001 | |
Last modified: | December 2, 2020 | |
This is version 193 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations