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

Summary

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

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_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Structural Basis of WLS/Evi-Mediated Wnt Transport and Secretion.
Title: Structural Basis of WLS/Evi-Mediated Wnt Transport and Secretion.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Studies with Wnt genes and nonsyndromic cleft lip and palate.
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.
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.

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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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:480613

NoName (e-PCR)
- UniSTS:486327

NoName (e-PCR)
- UniSTS:482554

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)

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
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
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

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

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

138077367..138092365

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047417692.1 → XP_047273648.1 protein Wnt-8a isoform X1
XM_017009826.2 → XP_016865315.1 protein Wnt-8a isoform X1
XM_047417693.1 → XP_047273649.1 protein Wnt-8a isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060929.1 Alternate T2T-CHM13v2.0

Range

138603716..138618708

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054353427.1 → XP_054209402.1 protein Wnt-8a isoform X1
XM_054353426.1 → XP_054209401.1 protein Wnt-8a isoform X1
XM_054353428.1 → XP_054209403.1 protein Wnt-8a isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_031933.1: Suppressed sequence

Description

NM_031933.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.