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    WNT8A Wnt family member 8A [ Homo sapiens (human) ]

    Gene ID: 7478, updated on 10-Dec-2024

    Summary

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    Official Symbol
    WNT8Aprovided by HGNC
    Official Full Name
    Wnt family member 8Aprovided by HGNC
    Primary source
    HGNC:HGNC:12788
    See related
    Ensembl:ENSG00000061492 MIM:606360; AllianceGenome:HGNC:12788
    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
    WNT8D
    Summary
    The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family, and may be implicated in development of early embryos as well as germ cell tumors. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2014]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See WNT8A in Genome Data Viewer
    Location:
    5q31.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (138077367..138092365)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (138603716..138618708)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (137419722..137428054)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 13 member B Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:137367957-137368840 Neighboring gene uncharacterized LOC124901077 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23192 Neighboring gene FAM13B antisense RNA 1 Neighboring gene RNA, U6 small nuclear 1148, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:137425944-137426482 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:137430515-137431447 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:137436961-137437153 Neighboring gene small nucleolar RNA U13 Neighboring gene RNA, U6 small nuclear 460, pseudogene Neighboring gene NME/NM23 family member 5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Polymorphisms and expression of the WNT8A gene in Hirschsprung's disease. Gao H, et al. Int J Mol Med, 2013 Sep. PMID 23836442
    2. Molecular cloning and characterization of human WNT8A. Saitoh T, et al. Int J Oncol, 2001 Jul. PMID 11408932
    3. Structural Basis of WLS/Evi-Mediated Wnt Transport and Secretion. Nygaard R, et al. Cell, 2021 Jan 7. PMID 33357447, Free PMC Article
    4. Expression and regulation of WNT8A and WNT8B mRNAs in human tumor cell lines: up-regulation of WNT8B mRNA by beta-estradiol in MCF-7 cells, and down-regulation of WNT8A and WNT8B mRNAs by retinoic acid in NT2 cells. Saitoh T, et al. Int J Oncol, 2002 May. PMID 11956596
    5. Studies with Wnt genes and nonsyndromic cleft lip and palate. Menezes R, et al. Birth Defects Res A Clin Mol Teratol, 2010 Nov. PMID 20890934, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Structural Basis of WLS/Evi-Mediated Wnt Transport and Secretion.
      Title: Structural Basis of WLS/Evi-Mediated Wnt Transport and Secretion.
    2. Here, we show that Wnt/planar cell polarity (PCP) autocrine signaling controls the emergence of cytonemes, and that cytonemes subsequently control paracrine Wnt/beta-catenin signal activation. Upon binding of the Wnt family member Wnt8a, the receptor tyrosine kinase Ror2 becomes activated.
      Title: Wnt/PCP controls spreading of Wnt/β-catenin signals by cytonemes in vertebrates.
    3. the WNT8A gene is involved in the susceptibility to HSCR, and plays an important role in the occurrence and development of Hirschsprung's disease.
      Title: Polymorphisms and expression of the WNT8A gene in Hirschsprung's disease.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Studies with Wnt genes and nonsyndromic cleft lip and palate.
    5. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate.
    6. Expression and regulation of WNT8A mRNA in human tumor cell lines
      Title: Expression and regulation of WNT8A and WNT8B mRNAs in human tumor cell lines: up-regulation of WNT8B mRNA by beta-estradiol in MCF-7 cells, and down-regulation of WNT8A and WNT8B mRNAs by retinoic acid in NT2 cells.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Meta-analysis identifies six new susceptibility loci for atrial fibrillation.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytokine activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables frizzled binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables frizzled binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables receptor ligand activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables receptor ligand activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in anterior/posterior axis specification ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in canonical Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in canonical Wnt signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in canonical Wnt signaling pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in cell fate commitment IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in dorsal/ventral axis specification ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in neural crest cell fate commitment ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in response to retinoic acid NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in secondary palate development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in collagen-containing extracellular matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    colocalizes_with extracellular space ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    protein Wnt-8a
    Names
    WNT8d
    protein Wnt-8d
    wingless-type MMTV integration site family, member 8A

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001300938.2 → NP_001287867.1  protein Wnt-8a isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AB057725, AY009402, BC144001
      UniProtKB/TrEMBL
      D6RF94
      Related
      ENSP00000424809.1, ENST00000504809.5
      Conserved Domains (1) summary
      smart00097
      Location:41 → 349
      WNT1; found in Wnt-1

    2. NM_001300939.2 → NP_001287868.1  protein Wnt-8a isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an additional segment in the 3' region, which results in an alternate translation stop codon, compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AB057725, AY009402, BC144497
      Consensus CDS
      CCDS75311.1
      UniProtKB/TrEMBL
      D6RF47, D6RF94
      Related
      ENSP00000426653.1, ENST00000506684.6
      Conserved Domains (1) summary
      smart00097
      Location:41 → 354
      WNT1; found in Wnt-1

    3. NM_058244.4 → NP_490645.1  protein Wnt-8a isoform 3 precursor

      See identical proteins and their annotated locations for NP_490645.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an internal segment in the 5' region and has an additional segment in the 3' region, which result in alternate translation start codon and stop codon respectively, compared to variant 1. The resulting isoform (3) is shorter and has distinct N- and C-termini, compared to isoform 1.
      Source sequence(s)
      AB057725, AY009402, BC144497
      Consensus CDS
      CCDS43368.1
      UniProtKB/Swiss-Prot
      Q96S51, Q9H1J5
      UniProtKB/TrEMBL
      D6RF94
      Related
      ENSP00000381739.1, ENST00000398754.1
      Conserved Domains (1) summary
      smart00097
      Location:21 → 336
      WNT1; found in Wnt-1

    RNA

    1. NR_125351.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an internal segment in the 5' region and has an alternate splice junction in the 3' region, compared to variant 1. This variant is represented as non-coding because use of the 5'-most expected translation start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AY009402, BC144497
      Related
      ENST00000361560.6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      138077367..138092365
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417692.1 → XP_047273648.1  protein Wnt-8a isoform X1

    2. XM_017009826.2 → XP_016865315.1  protein Wnt-8a isoform X1

    3. XM_047417693.1 → XP_047273649.1  protein Wnt-8a isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      138603716..138618708
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353427.1 → XP_054209402.1  protein Wnt-8a isoform X1

    2. XM_054353426.1 → XP_054209401.1  protein Wnt-8a isoform X1

    3. XM_054353428.1 → XP_054209403.1  protein Wnt-8a isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_031933.1: Suppressed sequence

      Description
      NM_031933.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H1J5.2 GenPept UniProtKB/Swiss-Prot:Q9H1J5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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