| Tag | Content |
|---|---|
| Uniprot ID | Q9QYE5; F8VPV5; O55139; O70219; |
| Entrez ID | 16450 |
| Genbank protein ID | AAF16411.1; CAA74835.1; AAC14010.1; |
| Genbank nucleotide ID | NM_010588.2 |
| Ensembl protein ID | ENSMUSP00000075224 |
| Ensembl nucleotide ID | ENSMUSG00000002799 |
| Gene name | Protein jagged-2 |
| Gene symbol | Jag2 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | E13.5, E14.5, E15.5 |
| Data sources | Manually collected |
| Reference | 9531541; 20533406; |
| Functional description | Putative Notch ligand involved in the mediation of Notch signaling. Plays an essential role during limb, craniofacial and thymic development. May be involved in myogenesis and in the development of peripheral and central nervous systems. |
| Sequence | MRARGWGRLP RRLLLLLVLC VQATRPMGYF ELQLSALRNV NGELLSGACC DGDGRTTRAG 60 GCGRDECDTY VRVCLKEYQA KVTPTGPCSY GYGATPVLGG NSFYLPPAGA AGDRARARSR 120 TGGHQDPGLV VIPFQFAWPR SFTLIVEAWD WDNDTTPDEE LLIERVSHAG MINPEDRWKS 180 LHFSGHVAHL ELQIRVRCDE NYYSATCNKF CRPRNDFFGH YTCDQYGNKA CMDGWMGKEC 240 KEAVCKQGCN LLHGGCTVPG ECRCSYGWQG KFCDECVPYP GCVHGSCVEP WHCDCETNWG 300 GLLCDKDLNY CGSHHPCVNG GTCINAEPDQ YLCACPDGYL GKNCERAEHA CASNPCANGG 360 SCHEVPSGFE CHCPSGWNGP TCALDIDECA SNPCAAGGTC VDQVDGFECI CPEQWVGATC 420 QLDANECEGK PCLNAFSCKN LIGGYYCDCL PGWKGINCQI NINDCHGQCQ HGGTCKDLVN 480 GYQCVCPRGF GGRHCELEYD KCASSPCRRG GICEDLVDGF RCHCPRGLSG LHCEVDMDLC 540 EPSPCLNGAR CYNLEGDYYC ACPEDFGGKN CSVPRDTCPG GACRVIDGCG FEAGSRARGV 600 APSGICGPHG HCVSLPGGNF SCICDSGFTG TYCHENIDDC MGQPCRNGGT CIDEVDSFRC 660 FCPSGWEGEL CDINPNDCLP DPCHSRGRCY DLVNDFYCAC DDGWKGKTCH SREFQCDAYT 720 CSNGGTCYDS GDTFRCACPP GWKGSTCTIA KNSSCVPNPC VNGGTCVGSG DSFSCICRDG 780 WEGRTCTHNT NDCNPLPCYN GGICVDGVNW FRCECAPGFA GPDCRINIDE CQSSPCAYGA 840 TCVDEINGYR CSCPPGRSGP RCQEVVIFTR PCWSRGMSFP HGSSWMEDCN SCRCLDGHRD 900 CSKVWCGWKP CLLSGQPSDP SAQCPPGQQC QEKAVGQCLQ PPCENWGECT AEEPLPPSTP 960 CQPRSSHLDN NCARLTLRFN RDQVPQGTTV GAICSGIRAL PATRAAAHDR LLLLLCDRAS 1020 SGASAVEVAV SFSPARDLPD SSLIQSTAHA IVAAITQRGN SSLLLAVTEV KVETVVMGGS 1080 STGLLVPVLC SVFSVLWLAC VVICVWWTRK RRKERERSRL PRDESANNQW APLNPIRNPI 1140 ERPGGSGLGT GGHKDILYQC KNFTPPPRRA GEALPGPAGH GAGGEDEEDE ELSRGDGDSP 1200 EAEKFISHKF TKDPSCSLGR PARWAPGPKV DNRAVRSTKD VRRAGRE 1247 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| Gene symbol | Significant Variants/SNPS | Methods | PubMed ID |
|---|---|---|---|
| JAG2 | g.19712C>T | Genotyping and sequencing | 26151095 |
| JAG2 | rs1057744 | Genotyping | 16641627 |
| JAG2 | rs741859C>T (protective) | iMLDR genotyping | 31922603 |
| JAG2 | rs11624283A>G | Genotyping | 20572854 |
| JAG2 | rs2056860C>T | Genotyping | 20572854 |
| JAG2 | rs1022431C>A | Genotyping | 20572854 |
| JAG2 | rs11621316*G | Genotyping | 26602496 |
| JAG2 | haplotype combination rs1057744A/rs909236G (protective) | Genotyping and TDT | 19049519 |
| JAG2 | haplotype combination rs1057744A/rs909236A (risk) | Genotyping and TDT | 19049519 |
| JAG2 | haplotype combination rs2238287G/rs105744A/rs909236G (protective) | Genotyping and TDT | 19049519 |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005112 | Notch binding | ISO |
| GO:0005112 | Notch binding | IPI |
| GO:0005112 | Notch binding | IBA |
| GO:0005509 | calcium ion binding | IEA |
| GO:0005515 | protein binding | IPI |
| GO:0008083 | growth factor activity | ISO |
| GO:0008083 | growth factor activity | ISS |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001501 | skeletal system development | IMP |
| GO:0001701 | in utero embryonic development | IMP |
| GO:0001709 | cell fate determination | NAS |
| GO:0003016 | respiratory system process | IMP |
| GO:0007219 | Notch signaling pathway | IEA |
| GO:0007283 | spermatogenesis | ISO |
| GO:0007605 | sensory perception of sound | NAS |
| GO:0009912 | auditory receptor cell fate commitment | IMP |
| GO:0016331 | morphogenesis of embryonic epithelium | IMP |
| GO:0030154 | cell differentiation | ISO |
| GO:0030155 | regulation of cell adhesion | IMP |
| GO:0030217 | T cell differentiation | ISO |
| GO:0042127 | regulation of cell population proliferation | ISO |
| GO:0042127 | regulation of cell population proliferation | ISS |
| GO:0042475 | odontogenesis of dentin-containing tooth | IMP |
| GO:0042492 | gamma-delta T cell differentiation | IMP |
| GO:0045061 | thymic T cell selection | ISO |
| GO:0045061 | thymic T cell selection | ISS |
| GO:0045746 | negative regulation of Notch signaling pathway | IBA |
| GO:0045747 | positive regulation of Notch signaling pathway | IDA |
| GO:1990134 | epithelial cell apoptotic process involved in palatal shelf morphogenesis | IMP |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005886 | plasma membrane | IBA |
| GO:0005886 | plasma membrane | TAS |
| GO:0005887 | integral component of plasma membrane | IDA |
| GO:0016020 | membrane | IDA |
| GO:0048471 | perinuclear region of cytoplasm | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-157118 | Signaling by NOTCH | IEA |
| R-MMU-162582 | Signal Transduction | IEA |
| R-MMU-1980143 | Signaling by NOTCH1 | IEA |
| R-MMU-2122948 | Activated NOTCH1 Transmits Signal to the Nucleus | IEA |
| R-MMU-9012852 | Signaling by NOTCH3 | IEA |
| R-MMU-9013507 | NOTCH3 Activation and Transmission of Signal to the Nucleus | IEA |
| Keyword ID | Keyword Term |
|---|---|
| KW-0106 | Calcium |
| KW-0217 | Developmental protein |
| KW-1015 | Disulfide bond |
| KW-0245 | EGF-like domain |
| KW-0325 | Glycoprotein |
| KW-0472 | Membrane |
| KW-0914 | Notch signaling pathway |
| KW-0597 | Phosphoprotein |
| KW-1185 | Reference proteome |
| KW-0677 | Repeat |
| KW-0732 | Signal |
| KW-0812 | Transmembrane |
| KW-1133 | Transmembrane helix |