Gene: NOG

Basic information

Tag Content
Uniprot ID Q13253
Entrez ID 9241
Genbank protein ID AAA83259.1; AAH34027.1;
Genbank nucleotide ID NM_005450.4
Ensembl protein ID ENSP00000328181
Ensembl nucleotide ID ENSG00000183691
Gene name Noggin
Gene symbol NOG
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Manually collected
Reference 25704602; 25339627;
Functional description Inhibitor of bone morphogenetic proteins (BMP) signaling which is required for growth and patterning of the neural tube and somite. Essential for cartilage morphogenesis and joint formation. Inhibits chondrocyte differentiation through its interaction with GDF5 and, probably, GDF6 (PubMed:21976273, PubMed:26643732).
Sequence
MERCPSLGVT LYALVVVLGL RATPAGGQHY LHIRPAPSDN LPLVDLIEHP DPIFDPKEKD 60
LNETLLRSLL GGHYDPGFMA TSPPEDRPGG GGGAAGGAED LAELDQLLRQ RPSGAMPSEI 120
KGLEFSEGLA QGKKQRLSKK LRRKLQMWLW SQTFCPVLYA WNDLGSRFWP RYVKVGSCFS 180
KRSCSVPEGM VCKPSKSVHL TVLRWRCQRR GGQRCGWIPI QYPIISECKC SC 232

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 expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database


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Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologNOG538769G3N3L0Bos taurusPredictionMore>>
1:1 orthologNOG102183633A0A2Z4FR29Capra hircusPredictionMore>>
1:1 orthologNOG9241Q13253Homo sapiensPublicationMore>>
1:1 orthologNog18121P97466CPOMus musculusPublicationMore>>
1:1 orthologNOG468413H2QDH3Pan troglodytesPredictionMore>>
1:1 orthologNOG574073B8XVN4Sus scrofaPredictionMore>>
1:1 orthologNog25495G3V8X8Rattus norvegicusPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
NOGrs227731C>AGenotyping25339627
NOGrs227727GWAS and Sanger sequencing25704602
NOGrs227731A>CGWAS28232668
NOGrs227727; Genotyping and GWAS27033726
NOGrs78717626Genotyping and GWAS27033726
NOGrs62074819Genotyping and GWAS27033726
NOGrs7406226Genotyping and GWAS27033726

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0005515 protein bindingIPI
GO:0019955 cytokine bindingIPI
GO:0042803 protein homodimerization activityIDA

GO:Biological Process

GO ID GO Term Evidence
GO:0000122 negative regulation of transcription by RNA polymerase IIISS
GO:0001501 skeletal system developmentTAS
GO:0001649 osteoblast differentiationISS
GO:0001649 osteoblast differentiationIBA
GO:0001701 in utero embryonic developmentIEA
GO:0001706 endoderm formationIEA
GO:0001707 mesoderm formationIEA
GO:0001837 epithelial to mesenchymal transitionISS
GO:0001839 neural plate morphogenesisIEA
GO:0001843 neural tube closureIEA
GO:0003149 membranous septum morphogenesisISS
GO:0003151 outflow tract morphogenesisISS
GO:0003203 endocardial cushion morphogenesisISS
GO:0003223 ventricular compact myocardium morphogenesisISS
GO:0007399 nervous system developmentTAS
GO:0008045 motor neuron axon guidanceIEA
GO:0009953 dorsal/ventral pattern formationIBA
GO:0009953 dorsal/ventral pattern formationIDA
GO:0010628 positive regulation of gene expressionISS
GO:0021510 spinal cord developmentIEA
GO:0021533 cell differentiation in hindbrainIMP
GO:0021983 pituitary gland developmentIEA
GO:0030336 negative regulation of cell migrationIDA
GO:0030509 BMP signaling pathwayTAS
GO:0030514 negative regulation of BMP signaling pathwayISS
GO:0030514 negative regulation of BMP signaling pathwayIDA
GO:0030514 negative regulation of BMP signaling pathwayIBA
GO:0035019 somatic stem cell population maintenanceIMP
GO:0042060 wound healingISS
GO:0042474 middle ear morphogenesisIMP
GO:0042733 embryonic digit morphogenesisIMP
GO:0045668 negative regulation of osteoblast differentiationIDA
GO:0045944 positive regulation of transcription by RNA polymerase IIIEA
GO:0048318 axial mesoderm developmentIEA
GO:0048570 notochord morphogenesisIEA
GO:0048706 embryonic skeletal system developmentIMP
GO:0048712 negative regulation of astrocyte differentiationISS
GO:0050679 positive regulation of epithelial cell proliferationIEA
GO:0051216 cartilage developmentIEA
GO:0055009 atrial cardiac muscle tissue morphogenesisISS
GO:0060044 negative regulation of cardiac muscle cell proliferationISS
GO:0060173 limb developmentIMP
GO:0060272 embryonic skeletal joint morphogenesisIMP
GO:0060302 negative regulation of cytokine activityIDA
GO:0060325 face morphogenesisIEA
GO:0060394 negative regulation of pathway-restricted SMAD protein phosphorylationISS
GO:0060394 negative regulation of pathway-restricted SMAD protein phosphorylationIDA
GO:0060412 ventricular septum morphogenesisISS
GO:0060425 lung morphogenesisIEA
GO:0060513 prostatic bud formationIEA
GO:0060676 ureteric bud formationIEA
GO:0060825 fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formationIMP
GO:0061037 negative regulation of cartilage developmentIEA
GO:0061053 somite developmentIEA
GO:0061312 BMP signaling pathway involved in heart developmentISS
GO:0061384 heart trabecula morphogenesisISS
GO:0061626 pharyngeal arch artery morphogenesisISS
GO:0090090 negative regulation of canonical Wnt signaling pathwayIDA
GO:0090190 positive regulation of branching involved in ureteric bud morphogenesisISS
GO:0090193 positive regulation of glomerulus developmentISS
GO:1905006 negative regulation of epithelial to mesenchymal transition involved in endocardial cushion formationISS
GO:2000313 regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formationIMP
GO:2001234 negative regulation of apoptotic signaling pathwayIEA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005576 extracellular regionTAS
GO:0005615 extracellular spaceIDA
GO:0005615 extracellular spaceIBA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-162582 Signal TransductionTAS
R-HSA-201451 Signaling by BMPTAS
R-HSA-9006936 Signaling by TGF-beta family membersTAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0891 Chondrogenesis
KW-0209 Deafness
KW-0217 Developmental protein
KW-0221 Differentiation
KW-0225 Disease mutation
KW-1015 Disulfide bond
KW-0325 Glycoprotein
KW-1185 Reference proteome
KW-0964 Secreted
KW-0732 Signal

Interpro

InterPro ID InterPro Term
IPR029034 Cystine-knot_cytokine
IPR008717 Noggin

PROSITE

PROSITE ID PROSITE Term

Pfam

Pfam ID Pfam Term

Protein-protein interaction

Protein-miRNA interaction