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LEFTY2 left-right determination factor 2 [ Homo sapiens (human) ]

Gene ID: 7044, updated on 5-Nov-2017
Official Symbol
LEFTY2provided by HGNC
Official Full Name
left-right determination factor 2provided by HGNC
Primary source
HGNC:HGNC:3122
See related
Ensembl:ENSG00000143768 MIM:601877; Vega:OTTHUMG00000037441
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EBAF; LEFTA; TGFB4; LEFTYA
Summary
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in left-right asymmetry determination of organ systems during development. The protein may also play a role in endometrial bleeding. Mutations in this gene have been associated with left-right axis malformations, particularly in the heart and lungs. Some types of infertility have been associated with dysregulated expression of this gene in the endometrium. This gene is closely linked to both a related family member and a related pseudogene. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]
Orthologs
Location:
1q42.12
Exon count:
6
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (225936598..225941383, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (226124298..226129083, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene left-right determination factor 1 Neighboring gene microRNA 6741 Neighboring gene pyrroline-5-carboxylate reductase 2 Neighboring gene NADH:ubiquinone oxidoreductase subunit A3 pseudogene 3 Neighboring gene SDE2 telomere maintenance homolog

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • BMP2-WNT4-FOXO1 Pathway in Human Primary Endometrial Stromal Cell Differentiation, organism-specific biosystem (from WikiPathways)
    BMP2-WNT4-FOXO1 Pathway in Human Primary Endometrial Stromal Cell Differentiation, organism-specific biosystemThis pathway is based on figure 6 from Li et al. BMP2 is activated by cAMP which promotes WNT4 expression in Human Primary Endometrial Stromal Cells (HPESCs) through SMAD1/5/8. WNT4 then induces FOXO...
  • Cell Differentiation - Index, organism-specific biosystem (from WikiPathways)
    Cell Differentiation - Index, organism-specific biosystemProteins and miRNAs associated with major cell type differentiation pathways.
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Mesodermal Commitment Pathway, organism-specific biosystem (from WikiPathways)
    Mesodermal Commitment Pathway, organism-specific biosystemModel depicting mesodermal specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell l...
  • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
    Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
  • Platelet degranulation, organism-specific biosystem (from REACTOME)
    Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
  • Regulation of signaling by NODAL, organism-specific biosystem (from REACTOME)
    Regulation of signaling by NODAL, organism-specific biosystemMature NODAL can form heterodimers with LEFTY1, LEFTY2, or CERBERUS. The heterodimers do not activate the NODAL receptor. LEFTY1 and LEFTY2 also bind CRIPTO and CRYPTIC coreceptors and prevent them f...
  • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
    Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...
  • Signaling by NODAL, organism-specific biosystem (from REACTOME)
    Signaling by NODAL, organism-specific biosystemSignaling by NODAL is essential for patterning of the axes of the embryo and formation of mesoderm and endoderm (reviewed in Schier 2009, Shen 2007). The NODAL proprotein is secreted and cleaved extr...
  • Signaling pathways regulating pluripotency of stem cells, organism-specific biosystem (from KEGG)
    Signaling pathways regulating pluripotency of stem cells, organism-specific biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
  • Signaling pathways regulating pluripotency of stem cells, conserved biosystem (from KEGG)
    Signaling pathways regulating pluripotency of stem cells, conserved biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
  • TGF-beta Receptor Signaling, organism-specific biosystem (from WikiPathways)
    TGF-beta Receptor Signaling, organism-specific biosystemThe Transforming growth factor beta (TGFβ) signaling pathway is involved in many cellular processes in both the adult organism and the developing embryo including cell growth, cell differentiat...
  • TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
    TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
  • TGF-beta signaling pathway, conserved biosystem (from KEGG)
    TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC46222

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytokine activity IBA
Inferred from Biological aspect of Ancestor
more info
 
growth factor activity IEA
Inferred from Electronic Annotation
more info
 
transforming growth factor beta receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
BMP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
SMAD protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
 
cell development IBA
Inferred from Biological aspect of Ancestor
more info
 
cell growth IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
platelet degranulation TAS
Traceable Author Statement
more info
 
positive regulation of pathway-restricted SMAD protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
 
regulation of MAPK cascade IBA
Inferred from Biological aspect of Ancestor
more info
 
regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
 
regulation of receptor activity IEA
Inferred from Electronic Annotation
more info
 
transforming growth factor beta receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
extracellular matrix IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 
platelet alpha granule lumen TAS
Traceable Author Statement
more info
 
Preferred Names
left-right determination factor 2
Names
TGF-beta-4
endometrial bleeding-associated factor
left-right determination factor A
protein lefty-2
protein lefty-A
transforming growth factor beta-4

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008118.1 RefSeqGene

    Range
    4729..9623
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001172425.2NP_001165896.1  left-right determination factor 2 isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1. This isoform (2) lacks a portion of the mature peptide compared to isoform 1, but may undergo proteolytic processing similar to isoform 1.
    Source sequence(s)
    AK075344, AK304549, AL117348, BC065929
    Consensus CDS
    CCDS53479.1
    UniProtKB/Swiss-Prot
    O00292
    Related
    ENSP00000388009.2, ENST00000420304.6
    Conserved Domains (2) summary
    pfam00019
    Location:227319
    TGF_beta; Transforming growth factor beta like domain
    pfam00688
    Location:43180
    TGFb_propeptide; TGF-beta propeptide
  2. NM_003240.4NP_003231.2  left-right determination factor 2 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_003231.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AA922485, AK027520, BC065929, DA269806
    Consensus CDS
    CCDS1549.1
    UniProtKB/Swiss-Prot
    O00292
    UniProtKB/TrEMBL
    A0A024R3P5
    Related
    ENSP00000355785.5, OTTHUMP00000035570, ENST00000366820.9, OTTHUMT00000091152
    Conserved Domains (2) summary
    pfam00019
    Location:263353
    TGF_beta; Transforming growth factor beta like domain
    pfam00688
    Location:106214
    TGFb_propeptide; TGF-beta propeptide

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

    Range
    225936598..225941383 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544266.1XP_011542568.1  left-right determination factor 2 isoform X1

    Conserved Domains (1) summary
    pfam00688
    Location:63214
    TGFb_propeptide; TGF-beta propeptide

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    227396616..227401402 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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