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; AllianceGenome:HGNC:6189
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; LGMDR27
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:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (105140995..105168776, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (99382854..99410701, complement)
RS_2024_09	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 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?

Three novel missense variants in two families with JAG2-associated limb-girdle muscular dystrophy.
Title: Three novel missense variants in two families with JAG2-associated limb-girdle muscular dystrophy.
Jag1/2 maintain esophageal homeostasis and suppress foregut tumorigenesis by restricting the basal progenitor cell pool.
Title: Jag1/2 maintain esophageal homeostasis and suppress foregut tumorigenesis by restricting the basal progenitor cell pool.
Jagged2 targeting in lung cancer activates anti-tumor immunity via Notch-induced functional reprogramming of tumor-associated macrophages.
Title: Jagged2 targeting in lung cancer activates anti-tumor immunity via Notch-induced functional reprogramming of tumor-associated macrophages.
ZEB2 alleviates Hirschsprung's-associated enterocolitis by promoting the proliferation and differentiation of enteric neural precursor cells via the Notch-1/Jagged-2 pathway.
Title: ZEB2 alleviates Hirschsprung's-associated enterocolitis by promoting the proliferation and differentiation of enteric neural precursor cells via the Notch-1/Jagged-2 pathway.
Ovarian tumor cell-derived JAGGED2 promotes omental metastasis through stimulating the Notch signaling pathway in the mesothelial cells.
Title: Ovarian tumor cell-derived JAGGED2 promotes omental metastasis through stimulating the Notch signaling pathway in the mesothelial cells.
Splicing factor ESRP1 derived circ_0068162 promotes the progression of oral squamous cell carcinoma via the miR-186/JAG axis.
Title: Splicing factor ESRP1 derived circ_0068162 promotes the progression of oral squamous cell carcinoma via the miR-186/JAG axis.
miR-541 is associated with the prognosis of liver cirrhosis and directly targets JAG2 to inhibit the activation of hepatic stellate cells.
Title: miR-541 is associated with the prognosis of liver cirrhosis and directly targets JAG2 to inhibit the activation of hepatic stellate cells.
Jagged2 progressively increased expression from Stage I to III of Bladder Cancer and Melatonin-mediated downregulation of Notch/Jagged2 suppresses the Bladder Tumorigenesis via inhibiting PI3K/AKT/mTOR/MMPs signaling.
Title: Jagged2 progressively increased expression from Stage I to III of Bladder Cancer and Melatonin-mediated downregulation of Notch/Jagged2 suppresses the Bladder Tumorigenesis via inhibiting PI3K/AKT/mTOR/MMPs signaling.
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.

Submit: New GeneRIF Correction See all GeneRIFs (43)

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
Muscular dystrophy, limb-girdle, autosomal recessive 27 MedGen: C5562002 OMIM: 619566 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)

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables Notch binding	IBA Inferred from Biological aspect of Ancestor more info
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 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

Q9UE17, Q9UE99, Q9UNK8, Q9Y219, Q9Y6P9, Q9Y6Q0

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