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WNT2B Wnt family member 2B [ Homo sapiens (human) ]

Gene ID: 7482, updated on 2-Nov-2024

Summary

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Official Symbol
WNT2Bprovided by HGNC
Official Full Name
Wnt family member 2Bprovided by HGNC
Primary source
HGNC:HGNC:12781
See related
Ensembl:ENSG00000134245 MIM:601968; AllianceGenome:HGNC:12781
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
WNT13
Summary
This gene encodes a member of the wingless-type MMTV integration site (WNT) family of highly conserved, secreted signaling factors. WNT family members function in a variety of developmental processes including regulation of cell growth and differentiation and are characterized by a WNT-core domain. This gene may play a role in human development as well as carcinogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
Expression
Broad expression in ovary (RPKM 4.3), skin (RPKM 3.1) and 21 other tissues See more
Orthologs
mouse all
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Genomic context

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See WNT2B in Genome Data Viewer
Location:
1p13.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (112466541..112530165)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (112479107..112542734)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (113009163..113072787)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1195 Neighboring gene CTTNBP2 N-terminal like Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:112947097-112947622 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:112950375-112950562 Neighboring gene Sharpr-MPRA regulatory region 6417 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1512 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1513 Neighboring gene MPRA-validated peak369 silencer Neighboring gene microRNA 4256 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:113050855-113051398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1198 Neighboring gene Sharpr-MPRA regulatory region 8072 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1199 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:113052323-113052822 Neighboring gene suppression of tumorigenicity 7 like Neighboring gene MPRA-validated peak370 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1514 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:113161935-113163134 Neighboring gene mitochondrial ribosomal protein L53 pseudogene 1 Neighboring gene capping actin protein of muscle Z-line subunit alpha 1 Neighboring gene RNA, U7 small nuclear 70 pseudogene

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 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. Transcriptional regulation of WNT2B based on the balance of Hedgehog, Notch, BMP and WNT signals. Katoh M, et al. Int J Oncol, 2009 May. PMID 19360354
  2. Impact of Altered WNT2B Expression on Bladder Wall Fibroblasts: Implications for Apoptosis Regulation in the Stroma of the Lower Urinary Tract. Worst TS, et al. Urol Int, 2017. PMID 29131138
  3. Alternative splicing of the WNT-2B/WNT-13 gene. Katoh M, et al. Biochem Biophys Res Commun, 2000 Aug 18. PMID 10944466
  4. Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B Mutations. O'Connell AE, et al. Am J Hum Genet, 2018 Jul 5. PMID 29909964, Free PMC Article
  5. Ad-shWnt2b Vector Therapy Demonstrates Antitumor Activity in Orthotopic Intrapleural Models as Monitored with the In Vitro Imaging System (IVIS). Kobayashi M, et al. Anticancer Res, 2016 Nov. PMID 27793913

See all (65) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. WNT2B Deficiency Causes Enhanced Susceptibility to Colitis Due to Increased Inflammatory Cytokine Production.
    Title: WNT2B Deficiency Causes Enhanced Susceptibility to Colitis Due to Increased Inflammatory Cytokine Production.
  2. WNT2B activates macrophages via NF-kappaB signaling pathway in inflammatory bowel disease.
    Title: WNT2B activates macrophages via NF-κB signaling pathway in inflammatory bowel disease.
  3. Upregulation of Wnt2b exerts neuroprotective effect by alleviating mitochondrial dysfunction in Alzheimer's disease.
    Title: Upregulation of Wnt2b exerts neuroprotective effect by alleviating mitochondrial dysfunction in Alzheimer's disease.
  4. [Mechanism of intestinal injury induced by WNT2B high-expressed fibroblasts in Crohn's disease].
    Title: [Mechanism of intestinal injury induced by WNT2B high-expressed fibroblasts in Crohn's disease].
  5. [Fibroblasts overpressing WNT2b cause impairment of intestinal mucosal barrier].
    Title: [Fibroblasts overpressing WNT2b cause impairment of intestinal mucosal barrier].
  6. High Glucose-Induced Human Kidney Cell Apoptosis and Inflammatory Injury Are Alleviated by Circ_0008529 Knockdown via Circ_0008529-Mediated miR-485-5p/WNT2B Signaling.
    Title: High Glucose-Induced Human Kidney Cell Apoptosis and Inflammatory Injury Are Alleviated by Circ_0008529 Knockdown via Circ_0008529-Mediated miR-485-5p/WNT2B Signaling.
  7. Wnt2b and Wnt5a expression is highly associated with M2 TAMs in nonsmall cell lung cancer.
    Title: Wnt2b and Wnt5a expression is highly associated with M2 TAMs in non‑small cell lung cancer.
  8. Circ_0000064 knockdown attenuates high glucose-induced proliferation, inflammation and extracellular matrix deposition of mesangial cells through miR-424-5p-mediated WNT2B inhibition in cell models of diabetic nephropathy.
    Title: Circ_0000064 knockdown attenuates high glucose-induced proliferation, inflammation and extracellular matrix deposition of mesangial cells through miR-424-5p-mediated WNT2B inhibition in cell models of diabetic nephropathy.
  9. Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis.
    Title: Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis.
  10. miR-27b-5p inhibits BeWo cells fusion by regulating WNT2B and enzyme involved in progesterone synthesis.
    Title: miR-27b-5p inhibits BeWo cells fusion by regulating WNT2B and enzyme involved in progesterone synthesis.
Submit: New GeneRIF Correction See all GeneRIFs (41)

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

Associated conditions

Description Tests
Diarrhea 9
MedGen: C4748517 OMIM: 618168 GeneReviews: Not available
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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
  
Process Evidence Code Pubs
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 IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cell fate commitment IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cellular response to starvation IEA
Inferred from Electronic Annotation
more info
  
involved_in chondrocyte differentiation IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in cornea development in camera-type eye ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in forebrain regionalization IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in hematopoietic stem cell proliferation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in iris morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in lens development in camera-type eye ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in lung induction IEA
Inferred from Electronic Annotation
more info
  
involved_in male gonad development IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in mesenchymal-epithelial cell signaling IEA
Inferred from Electronic Annotation
more info
  
involved_in neuron differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of branching involved in ureteric bud morphogenesis 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
  
located_in extracellular space NAS
Non-traceable Author Statement
more info
 PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
protein Wnt-2b
Names
XWNT2, Xenopus, homolog of
wingless-type MMTV integration site family, member 13
wingless-type MMTV integration site family, member 2B

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_052953.2 RefSeqGene

    Range
    47426..68626
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001291880.1 → NP_001278809.1  protein Wnt-2b isoform 3

    See identical proteins and their annotated locations for NP_001278809.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and uses a downstream start codon, compared to variant WNT-2B2. The encoded isoform (3) has a shorter N-terminus, compared to isoform WNT-2B2.
    Source sequence(s)
    AK127449, BC141825
    Consensus CDS
    CCDS76188.1
    UniProtKB/TrEMBL
    Q5TEH8
    Related
    ENSP00000256640.5, ENST00000256640.9
    Conserved Domains (1) summary
    cl38924
    Location:1 → 288
    Wnt; Wnt domain found in the WNT signaling gene family, also called Wingless-type mouse mammary tumor virus (MMTV) integration site family

  2. NM_004185.4 → NP_004176.2  protein Wnt-2b isoform WNT-2B1

    See identical proteins and their annotated locations for NP_004176.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (WNT-2B1) differs in the 5' UTR and 5' coding region, compared to variant WNT-2B2. The encoded isoform (WNT-2B1) has a shorter and distinct N-terminus, compared to isoform WNT-2B2.
    Source sequence(s)
    AB045116, AK127449, BC141825
    Consensus CDS
    CCDS846.1
    UniProtKB/Swiss-Prot
    Q93097
    Related
    ENSP00000358700.4, ENST00000369686.9
    Conserved Domains (1) summary
    pfam00110
    Location:55 → 361
    wnt; wnt family

  3. NM_024494.3 → NP_078613.1  protein Wnt-2b isoform WNT-2B2

    See identical proteins and their annotated locations for NP_078613.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (WNT-2B2) represents the shortest transcript and encodes the longest isoform (WNT-2B2).
    Source sequence(s)
    AL109932, BC141825
    Consensus CDS
    CCDS847.1
    UniProtKB/Swiss-Prot
    O14903, Q5TEH9, Q5TEI2, Q93097, Q9HDC1, Q9HDC2
    Related
    ENSP00000358698.4, ENST00000369684.5
    Conserved Domains (1) summary
    pfam00110
    Location:74 → 380
    wnt; wnt family

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    112466541..112530165
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    112479107..112542734
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q93097.2 GenPept UniProtKB/Swiss-Prot:Q93097

Gene LinkOut

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