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

Gene ID: 7478, updated on 5-Mar-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
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Genomic context

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Location:
5q31.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (138077367..138092365)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (138603716..138618708)
105.20220307 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)

Genotypes

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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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_2023_10

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

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