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

    Gene ID: 7482, updated on 10-Dec-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
    • 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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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Diarrhea 9
    MedGen: C4748517 OMIM: 618168 GeneReviews: Not available
    		not available

    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
    		  
    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

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

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