JAG2

Protein identityUniProt · HPA

UniProt accession

Q9Y219

Gene

JAG2

Ensembl

ENSG00000184916

Chromosome

14

Canonical length

1238 aa

Protein class

Disease related genes, Human disease related genes, Predicted membrane proteins

Subcellular location

Vesicles,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1238 residues, UniProt reviewed canonical sequence.

>Q9Y219|JAG2
     1  MRAQGRGRLP RRLLLLLALW VQAARPMGYF ELQLSALRNV NGELLSGACC DGDGRTTRAG
    61  GCGHDECDTY VRVCLKEYQA KVTPTGPCSY GHGATPVLGG NSFYLPPAGA AGDRARARAR
   121  AGGDQDPGLV VIPFQFAWPR SFTLIVEAWD WDNDTTPNEE LLIERVSHAG MINPEDRWKS
   181  LHFSGHVAHL ELQIRVRCDE NYYSATCNKF CRPRNDFFGH YTCDQYGNKA CMDGWMGKEC
   241  KEAVCKQGCN LLHGGCTVPG ECRCSYGWQG RFCDECVPYP GCVHGSCVEP WQCNCETNWG
   301  GLLCDKDLNY CGSHHPCTNG GTCINAEPDQ YRCTCPDGYS GRNCEKAEHA CTSNPCANGG
   361  SCHEVPSGFE CHCPSGWSGP TCALDIDECA SNPCAAGGTC VDQVDGFECI CPEQWVGATC
   421  QLDANECEGK PCLNAFSCKN LIGGYYCDCI PGWKGINCHI NVNDCRGQCQ HGGTCKDLVN
   481  GYQCVCPRGF GGRHCELERD ECASSPCHSG GLCEDLADGF HCHCPQGFSG PLCEVDVDLC
   541  EPSPCRNGAR CYNLEGDYYC ACPDDFGGKN CSVPREPCPG GACRVIDGCG SDAGPGMPGT
   601  AASGVCGPHG RCVSQPGGNF SCICDSGFTG TYCHENIDDC LGQPCRNGGT CIDEVDAFRC
   661  FCPSGWEGEL CDTNPNDCLP DPCHSRGRCY DLVNDFYCAC DDGWKGKTCH SREFQCDAYT
   721  CSNGGTCYDS GDTFRCACPP GWKGSTCAVA KNSSCLPNPC VNGGTCVGSG ASFSCICRDG
   781  WEGRTCTHNT NDCNPLPCYN GGICVDGVNW FRCECAPGFA GPDCRINIDE CQSSPCAYGA
   841  TCVDEINGYR CSCPPGRAGP RCQEVIGFGR SCWSRGTPFP HGSSWVEDCN SCRCLDGRRD
   901  CSKVWCGWKP CLLAGQPEAL SAQCPLGQRC LEKAPGQCLR PPCEAWGECG AEEPPSTPCL
   961  PRSGHLDNNC ARLTLHFNRD HVPQGTTVGA ICSGIRSLPA TRAVARDRLL VLLCDRASSG
  1021  ASAVEVAVSF SPARDLPDSS LIQGAAHAIV AAITQRGNSS LLLAVTEVKV ETVVTGGSST
  1081  GLLVPVLCGA FSVLWLACVV LCVWWTRKRR KERERSRLPR EESANNQWAP LNPIRNPIER
  1141  PGGHKDVLYQ CKNFTPPPRR ADEALPGPAG HAAVREDEED EDLGRGEEDS LEAEKFLSHK
  1201  FTKDPGRSPG RPAHWASGPK VDNRAVRSIN EARYAGKE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against JAG2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.4

Highest tissue expression

18 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about JAG2.

Disease | AllUniProt

Conditions JAG2 is implicated in, by any mechanism.

• Muscular dystrophy, limb-girdle, autosomal recessive 27 (LGMDR27) MIM:619566

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 380 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Muscular dystrophy, limb-girdle, autosomal recessive 27

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.14

gnomAD pLI

1

gnomAD missense Z

2.2

DepMap mean gene effect

0.05

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• auditory receptor cell fate commitment
• cell differentiation
• gamma-delta T cell differentiation
• in utero embryonic development
• morphogenesis of embryonic epithelium
• Notch signaling pathway
• odontogenesis of dentin-containing tooth
• positive regulation of Notch signaling pathway
• regulation of cell adhesion
• regulation of cell population proliferation
• respiratory system process
• skeletal system development
• spermatogenesis
• T cell differentiation
• thymic T cell selection
• epithelial cell apoptotic process involved in palatal shelf morphogenesis

Molecular functions

• calcium ion binding
• growth factor activity
• Notch binding

Cellular components

• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• EGF-type aspartate/asparagine hydroxylation site
• EGF-like domain
• VWFC domain
• Delta/Serrate/lag-2 (DSL) protein
• EGF-like calcium-binding domain
• Growth factor receptor cysteine-rich domain superfamily
• Notch ligand, N-terminal domain
• EGF-like, conserved site
• EGF-like calcium-binding, conserved site
• Jagged/Serrate protein
• NOTCH1, EGF-like calcium-binding domain
• Protein jagged-1/2, predicted ferredoxin-like domain
• EGF-like domain
• Delta serrate ligand
• Calcium-binding EGF domain
• N terminus of Notch ligand C2-like domain
• Human growth factor-like EGF
• Delta-like/Jagged, EGF-like domain
• Protein jagged-1-like, predicted ferredoxin-like domain

KeywordsUniProt

• Calcium
• Developmental protein
• Disulfide bond
• EGF-like domain
• Glycoprotein
• Limb-girdle muscular dystrophy
• Membrane
• Notch signaling pathway
• Phosphoprotein
• Repeat
• Signal
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of JAG2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• GFI1B