JAG2 jagged canonical Notch ligand 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: JAG2provided by HGNC
Official Full Name: jagged canonical Notch ligand 2provided by HGNC
Primary source: HGNC:HGNC:6189
See related: Ensembl:ENSG00000184916 MIM:602570
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: HJ2; SER2
Summary: The Notch signaling pathway is an intercellular signaling mechanism that is essential for proper embryonic development. Members of the Notch gene family encode transmembrane receptors that are critical for various cell fate decisions. The protein encoded by this gene is one of several ligands that activate Notch and related receptors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Broad expression in skin (RPKM 13.9), fat (RPKM 7.0) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q32.33

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
109.20210514	current	GRCh38.p13 (GCF_000001405.39)	14	NC_000014.9 (105140981..105168776, complement)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (105607332..105635113, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

A form of muscular dystrophy associated with pathogenic variants in JAG2.
Title: A form of muscular dystrophy associated with pathogenic variants in JAG2.
Overexpression of JAG2 is related to poor outcomes in oral squamous cell carcinoma.
Title: Overexpression of JAG2 is related to poor outcomes in oral squamous cell carcinoma.
Results showed that Jagged2 was highly expressed in paclitaxel-resistant triple negative breast cancer (TNBC) tissues and cells. Jagged2 expression was found to be associated with cancer stem cell (CSC) properties of TNBC cells. Jagged2 maintains CSC properties of TNBC cells and paclitaxel resistance via regulating microRNA-200.
Title: Jagged2 promotes cancer stem cell properties of triple negative breast cancer cells and paclitaxel resistance via regulating microRNA-200.
The CT genotype of rs741859 could significantly reduce the risk for NSCLP to 65% (P< 0.05) and the risk for cleft lip with or without cleft palate (CL/P) to 62% (P< 0.05).
Title: [Association between the JAG2 gene polymorphism and the occurrence of nonsyndromic cleft lip with or without cleft palate in northwest Chinese population].
CD14(+) monocytes serve as Langerhans cell histiocytosis (LCH) cell precursor and JAG2-mediated activation of the Notch signaling pathway initiates a differentiation of monocytes toward LCH cells.
Title: JAG2 signaling induces differentiation of CD14<sup>+</sup> monocytes into Langerhans cell histiocytosis-like cells.
Long noncoding RNA (lncRNA) ENST00000455974 was significantly associated with TNM stage and distant metastasis in patients with DNA mismatch repair-proficient colon cancer. ENST00000455974 was gradually increased across the colonic normal-adenoma-carcinoma-metastasis sequence. ENST00000455974 was mainly located in the nucleus of colon cancer cells and it promoted growth and metastasis through up-regulating JAG2.
Title: Long noncoding RNA ENST00000455974 plays an oncogenic role through up-regulating JAG2 in human DNA mismatch repair-proficient colon cancer.
In CL+/-P Malay patients, the prevalence of mutations in the Jagged2 gene was 12.5%. Three variants (g.19779C>T, g.19547G>A, and g.19712C>T) were identified in the Jagged2 gene among nonsyndromic CL+/-P and noncleft patients. Only g.19712C>T showed a significant association with nonsyndromic CL+/-P patients (P = .039).
Title: Screening of Transforming Growth Factor Beta 3 and Jagged2 Genes in the Malay Population With Nonsyndromic Cleft Lip With or Without Cleft Palate.
these results show that the Notch signaling pathway in T cells is crucial for the induction of TH2-mediated allergic airway inflammation in an house dust mite -driven asthma model but that expression of Jagged 1 or Jagged 2 on DCs is not required
Title: Notch signaling in T cells is essential for allergic airway inflammation, but expression of the Notch ligands Jagged 1 and Jagged 2 on dendritic cells is dispensable.
The authors present novel structures of human ligands Jagged2 and Delta-like4 and human Notch2, together with functional assays, which suggest that ligand-mediated coupling of membrane recognition and Notch binding is likely to be critical in establishing the optimal context for Notch signalling.
Title: Structural and functional dissection of the interplay between lipid and Notch binding by human Notch ligands.
Immunohistochemistry showed a reverse correlation between MUC2 and Notch3 or Jagged1 (P = 0.033 and P = 0.005, respectively) and between MUC5AC and Jagged1 or Hes1
Title: Notch3 and Jagged2 contribute to gastric cancer development and to glandular differentiation associated with MUC2 and MUC5AC expression.

Submit: New GeneRIF Correction See all GeneRIFs (35)

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

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

Jag2 (e-PCR), detects polymorphism
- UniSTS:143637

Homology

Homologs of the JAG2 gene: The JAG2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 394 organisms have orthologs with human gene JAG2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables Notch binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables Notch binding	IPI Inferred from Physical Interaction more info	PubMed
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables growth factor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Notch signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in T cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in auditory receptor cell fate commitment	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in epithelial cell apoptotic process involved in palatal shelf morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in gamma-delta T cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in morphogenesis of embryonic epithelium	IEA Inferred from Electronic Annotation more info
involved_in odontogenesis of dentin-containing tooth	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of Notch signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in respiratory system process	IEA Inferred from Electronic Annotation more info
involved_in skeletal system development	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	IEP Inferred from Expression Pattern more info	PubMed
involved_in thymic T cell selection	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in integral component of plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: protein jagged-2

Names: jagged 2

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_002226.5 → NP_002217.3 protein jagged-2 isoform a precursor

See identical proteins and their annotated locations for NP_002217.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AA775404, AF003521, AF029778, AI276672, AJ712299, AL512356, BX105691, U69180

Consensus CDS

CCDS9998.1

UniProtKB/Swiss-Prot

Q9Y219

Related

ENSP00000328169.3, ENST00000331782.8

Conserved Domains (5) summary

smart00215
Location:872 → 943

VWC_out; von Willebrand factor (vWF) type C domain

cd00054
Location:307 → 345

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam00008
Location:351 → 381

EGF; EGF-like domain

pfam01414
Location:178 → 240

DSL; Delta serrate ligand

pfam07657
Location:28 → 102

MNNL; N terminus of Notch ligand
NM_145159.3 → NP_660142.1 protein jagged-2 isoform b precursor

See identical proteins and their annotated locations for NP_660142.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1, resulting in a shorter protein (isoform b) than isoform a encoded by variant 1. Isoform b is also known as hJAG2.del-E6.

Source sequence(s)

AA775404, AF003521, AF029779, AI276672, AJ712299, AL512356, BX105691, U69180

Consensus CDS

CCDS9999.1

UniProtKB/Swiss-Prot

Q9Y219

Related

ENSP00000328566.2, ENST00000347004.2

Conserved Domains (5) summary

smart00215
Location:834 → 905

VWC_out; von Willebrand factor (vWF) type C domain

cd00054
Location:307 → 345

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam00008
Location:351 → 381

EGF; EGF-like domain

pfam01414
Location:178 → 240

DSL; Delta serrate ligand

pfam07657
Location:28 → 102

MNNL; N terminus of Notch ligand