CleftGeneDB-Search

Gene: Grem1

Basic information

Tag	Content
Uniprot ID	O70326
Entrez ID	23892
Genbank protein ID	AAH15293.1; AAC40111.1; AAD54056.1;
Genbank nucleotide ID	NM_011824.4
Ensembl protein ID	ENSMUSP00000097170
Ensembl nucleotide ID	ENSMUSG00000074934
Gene name	Gremlin-1
Gene symbol	Grem1
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Cytokine that may play an important role during carcinogenesis and metanephric kidney organogenesis, as BMP a antagonist required for early limb outgrowth and patterning in maintaining the FGF4-SHH feedback loop (PubMed:12808456, PubMed:15201225). Down-regulates the BMP4 signaling in a dose-dependent manner (PubMed:15133038). Antagonist of BMP2; inhibits BMP2-mediated differentiation of osteoblasts (in vitro) (By similarity). Acts as inhibitor of monocyte chemotaxis (By similarity).
Sequence	MNRTAYTVGA LLLLLGTLLP TAEGKKKGSQ GAIPPPDKAQ HNDSEQTQSP PQPGSRTRGR 60 GQGRGTAMPG EEVLESSQEA LHVTERKYLK RDWCKTQPLK QTIHEEGCNS RTIINRFCYG 120 QCNSFYIPRH IRKEEGSFQS CSFCKPKKFT TMMVTLNCPE LQPPTKKKRV TRVKQCRCIS 180 IDLD 184

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.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

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Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	GREM1	26585	O60565	CL/P	Homo sapiens	Publication	More>>
1:1 ortholog	GREM1	539079	A2VE87		Bos taurus	Prediction	More>>
1:1 ortholog	GREM1		A0A452E4N7		Capra hircus	Prediction	More>>
1:1 ortholog	Grem1	23892	O70326		Mus musculus	Prediction	More>>
1:1 ortholog	GREM1		A0A287ABW3		Sus scrofa	Prediction	More>>
1:1 ortholog	GREM1	100342066	G1TUM4		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Grem1	50566	O35793		Rattus norvegicus	Prediction	More>>
1:1 ortholog	grem1b		A0A0R4IYE7		Danio rerio	Prediction	More>>

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Identified variants/mutations related to cleft phenotype

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Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
GREM1	rs16969681	Genotyping	26043427
GREM1	rs1258763	Genotyping	26043427
GREM1	rs16969816	Genotyping	26043427
GREM1	rs2280738	Sanger sequencing	32687624
GREM1	rs12915554 (Heterozygous; increase risk)	PCR-RFLP or T-ARMS-PCR	31650875
GREM1	rs3743105 (Heterozygous and dominant; reduce risk)	PCR-RFLP or T-ARMS-PCR	31650875
GREM1	rs1129456 (Heterozygous; positively associate risk)	PCR-RFLP or T-ARMS-PCR	31650875
GREM1	rs10318 (Homozygous; dominant andrecessive; reduce risk)	PCR-RFLP or T-ARMS-PCR	31650875
GREM1	c.4900C>T< p.Pro164Ser	Sanger sequencing	29489415
GREM1	c.182G>A; p.Gly61Asp	Sanger sequencing	29489415

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Other genetic variants/mutations

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ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs228640966	p.Pro51Ser	missense variant	-	NC_000068.7:g.113750004G>A	UniProt

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

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GO ID	GO Term	Evidence
GO:0005125	cytokine activity	IEA
GO:0030297	transmembrane receptor protein tyrosine kinase activator activity	IDA
GO:0036122	BMP binding	ISS
GO:0036122	BMP binding	ISO
GO:0042803	protein homodimerization activity	ISO
GO:0043184	vascular endothelial growth factor receptor 2 binding	IPI
GO:0043395	heparan sulfate proteoglycan binding	TAS
GO:0048018	receptor ligand activity	IPI

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GO:Biological Process

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GO ID	GO Term	Evidence
GO:0000902	cell morphogenesis	ISO
GO:0001525	angiogenesis	IDA
GO:0002042	cell migration involved in sprouting angiogenesis	IDA
GO:0002092	positive regulation of receptor internalization	IDA
GO:0002689	negative regulation of leukocyte chemotaxis	ISO
GO:0003257	positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation	IDA
GO:0003337	mesenchymal to epithelial transition involved in metanephros morphogenesis	IDA
GO:0006915	apoptotic process	IEA
GO:0007165	signal transduction	IDA
GO:0007171	activation of transmembrane receptor protein tyrosine kinase activity	IEA
GO:0007267	cell-cell signaling	IMP
GO:0008284	positive regulation of cell population proliferation	ISO
GO:0009887	animal organ morphogenesis	IMP
GO:0009954	proximal/distal pattern formation	IMP
GO:0010717	regulation of epithelial to mesenchymal transition	ISO
GO:0030199	collagen fibril organization	ISO
GO:0030308	negative regulation of cell growth	ISO
GO:0030326	embryonic limb morphogenesis	IMP
GO:0030502	negative regulation of bone mineralization	ISO
GO:0030514	negative regulation of BMP signaling pathway	ISS