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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)

    NEW Try the new Transcript table

    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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