CleftGeneDB-Search

Tag	Content
Uniprot ID	P97466
Entrez ID	18121
Genbank protein ID	AAB38281.1
Genbank nucleotide ID	NM_008711.2
Ensembl protein ID	ENSMUSP00000061427
Ensembl nucleotide ID	ENSMUSG00000048616
Gene name	Noggin
Gene symbol	Nog
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type	CPO
Developmental stage
Data sources	Manually collected
Reference	30235284; 24949938; 20727875;
Functional description	Essential for cartilage morphogenesis and joint formation. Inhibitor of bone morphogenetic proteins (BMP) signaling which is required for growth and patterning of the neural tube and somite (PubMed:9585504, PubMed:9603738). Inhibits chondrocyte differentiation through its interaction with GDF5 and, probably, GDF6 (By similarity).
Sequence	MERCPSLGVT LYALVVVLGL RAAPAGGQHY LHIRPAPSDN LPLVDLIEHP DPIFDPKEKD 60 LNETLLRSLL GGHYDPGFMA TSPPEDRPGG GGGPAGGAED 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.

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	NOG	538769	G3N3L0		Bos taurus	Prediction	More>>
1:1 ortholog	NOG	102183633	A0A2Z4FR29		Capra hircus	Prediction	More>>
1:1 ortholog	NOG	9241	Q13253		Homo sapiens	Publication	More>>
1:1 ortholog	Nog	18121	P97466	CPO	Mus musculus	Publication	More>>
1:1 ortholog	NOG	468413	H2QDH3		Pan troglodytes	Prediction	More>>
1:1 ortholog	NOG	574073	B8XVN4		Sus scrofa	Prediction	More>>
1:1 ortholog	Nog	25495	G3V8X8		Rattus norvegicus	Prediction	More>>

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
NOG	rs227731C>A	Genotyping	25339627
NOG	rs227727	GWAS and Sanger sequencing	25704602
NOG	rs227731A>C	GWAS	28232668
NOG	rs227727;	Genotyping and GWAS	27033726
NOG	rs78717626	Genotyping and GWAS	27033726
NOG	rs62074819	Genotyping and GWAS	27033726
NOG	rs7406226	Genotyping and GWAS	27033726

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0019955	cytokine binding	ISO
GO:0042803	protein homodimerization activity	ISO
GO:0044877	protein-containing complex binding	ISO

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP
GO:0001501	skeletal system development	IMP
GO:0001649	osteoblast differentiation	IMP
GO:0001649	osteoblast differentiation	IBA
GO:0001655	urogenital system development	IMP
GO:0001657	ureteric bud development	IDA
GO:0001701	in utero embryonic development	IMP
GO:0001706	endoderm formation	IDA
GO:0001707	mesoderm formation	IDA
GO:0001837	epithelial to mesenchymal transition	IMP
GO:0001839	neural plate morphogenesis	IMP
GO:0001843	neural tube closure	IMP
GO:0003149	membranous septum morphogenesis	IMP
GO:0003151	outflow tract morphogenesis	IMP
GO:0003203	endocardial cushion morphogenesis	IMP
GO:0003223	ventricular compact myocardium morphogenesis	IMP
GO:0007389	pattern specification process	IMP
GO:0007411	axon guidance	IMP
GO:0007417	central nervous system development	IMP
GO:0007420	brain development	IMP
GO:0007492	endoderm development	IDA
GO:0007613	memory	ISO
GO:0008045	motor neuron axon guidance	IMP
GO:0008284	positive regulation of cell population proliferation	ISO
GO:0008542	visual learning	ISO
GO:0009953	dorsal/ventral pattern formation	ISO
GO:0009953	dorsal/ventral pattern formation	IBA
GO:0010628	positive regulation of gene expression	IMP
GO:0010629	negative regulation of gene expression	IDA
GO:0021510	spinal cord development	IMP
GO:0021533	cell differentiation in hindbrain	ISO
GO:0021915	neural tube development	IMP
GO:0021983	pituitary gland development	IMP
GO:0030336	negative regulation of cell migration	ISO
GO:0030510	regulation of BMP signaling pathway	IMP
GO:0030514	negative regulation of BMP signaling pathway	ISO
GO:0030514	negative regulation of BMP signaling pathway	IDA
GO:0030514	negative regulation of BMP signaling pathway	IMP
GO:0030514	negative regulation of BMP signaling pathway	IGI
GO:0030514	negative regulation of BMP signaling pathway	IBA
GO:0035019	somatic stem cell population maintenance	ISO
GO:0042060	wound healing	IMP
GO:0042474	middle ear morphogenesis	ISO
GO:0042733	embryonic digit morphogenesis	ISO
GO:0045668	negative regulation of osteoblast differentiation	ISO
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	IGI
GO:0048318	axial mesoderm development	IMP
GO:0048570	notochord morphogenesis	IMP
GO:0048646	anatomical structure formation involved in morphogenesis	IGI
GO:0048646	anatomical structure formation involved in morphogenesis	IMP
GO:0048706	embryonic skeletal system development	ISO
GO:0048712	negative regulation of astrocyte differentiation	ISO
GO:0048712	negative regulation of astrocyte differentiation	IMP
GO:0048762	mesenchymal cell differentiation	ISO
GO:0048762	mesenchymal cell differentiation	IMP
GO:0050679	positive regulation of epithelial cell proliferation	IGI
GO:0050679	positive regulation of epithelial cell proliferation	IMP
GO:0051216	cartilage development	IEA
GO:0055009	atrial cardiac muscle tissue morphogenesis	IMP
GO:0060044	negative regulation of cardiac muscle cell proliferation	IMP
GO:0060173	limb development	ISO
GO:0060272	embryonic skeletal joint morphogenesis	ISO
GO:0060302	negative regulation of cytokine activity	ISO
GO:0060325	face morphogenesis	IMP
GO:0060394	negative regulation of pathway-restricted SMAD protein phosphorylation	ISO
GO:0060394	negative regulation of pathway-restricted SMAD protein phosphorylation	IMP
GO:0060412	ventricular septum morphogenesis	IMP
GO:0060425	lung morphogenesis	IMP
GO:0060513	prostatic bud formation	IMP
GO:0060676	ureteric bud formation	IDA
GO:0060825	fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation	ISO
GO:0061037	negative regulation of cartilage development	IDA
GO:0061053	somite development	IMP
GO:0061312	BMP signaling pathway involved in heart development	IMP
GO:0061384	heart trabecula morphogenesis	IMP
GO:0061626	pharyngeal arch artery morphogenesis	IMP
GO:0070447	positive regulation of oligodendrocyte progenitor proliferation	ISO
GO:0071773	cellular response to BMP stimulus	IDA
GO:0090090	negative regulation of canonical Wnt signaling pathway	ISO
GO:0090190	positive regulation of branching involved in ureteric bud morphogenesis	IDA
GO:0090193	positive regulation of glomerulus development	IDA
GO:1905006	negative regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	IMP
GO:2000313	regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation	ISO
GO:2001234	negative regulation of apoptotic signaling pathway	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005615	extracellular space	ISO
GO:0005615	extracellular space	IDA
GO:0005615	extracellular space	IBA
GO:0030424	axon	ISO
GO:0032991	protein-containing complex	ISO

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-MMU-162582	Signal Transduction	IEA
R-MMU-201451	Signaling by BMP	IEA
R-MMU-9006936	Signaling by TGF-beta family members	IEA

Keyword ID	Keyword Term
KW-0891	Chondrogenesis
KW-0217	Developmental protein
KW-0221	Differentiation
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-1185	Reference proteome
KW-0964	Secreted
KW-0732	Signal

InterPro ID	InterPro Term
IPR029034	Cystine-knot_cytokine
IPR008717	Noggin

Gene: Nog

Basic information

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-miRNA interaction