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

Gene ID: 7044, updated on 8-Jul-2021

Summary

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
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]
Expression
Biased expression in endometrium (RPKM 129.5) and ovary (RPKM 10.7) See more
Orthologs
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Genomic context

See LEFTY2 in Genome Data Viewer
Location:
1q42.12
Exon count:
6
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (225936603..225941367, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (226124303..226128920, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene pyrroline-5-carboxylate reductase 2 Neighboring gene microRNA 6741 Neighboring gene CRISPRi-validated cis-regulatory element chr1.11973 Neighboring gene NADH:ubiquinone oxidoreductase subunit A3 pseudogene 3 Neighboring gene SDE2 telomere maintenance homolog

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC46222

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cytokine activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables growth factor activity IEA
Inferred from Electronic Annotation
more info
 
enables transforming growth factor beta receptor binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in collagen-containing extracellular matrix HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in platelet alpha granule lumen TAS
Traceable Author Statement
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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
    5001..9618
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001172425.3NP_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
    Consensus CDS
    CCDS53479.1
    UniProtKB/Swiss-Prot
    O00292
    Related
    ENSP00000388009.2, ENST00000420304.6
    Conserved Domains (2) summary
    pfam00019
    Location:229319
    TGF_beta; Transforming growth factor beta like domain
    pfam00688
    Location:110180
    TGFb_propeptide; TGF-beta propeptide
  2. NM_003240.5NP_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, DA269806
    Consensus CDS
    CCDS1549.1
    UniProtKB/Swiss-Prot
    O00292
    UniProtKB/TrEMBL
    A0A024R3P5
    Related
    ENSP00000355785.5, ENST00000366820.10
    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 Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    225936603..225941367 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
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