Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9350
Gene name	Cerberus 1, DAN family BMP antagonist
Gene symbol	CER1
Synonyms (NCBI Gene)	DAND4
Chromosome	9
Chromosome location	9p22.3
Summary	This gene encodes a cytokine member of the cysteine knot superfamily, characterized by nine conserved cysteines and a cysteine knot region. The cerberus-related cytokines, together with Dan and DRM/Gremlin, represent a group of bone morphogenetic protein

Show/Hide all (52)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001657	Process	Ureteric bud development	IEA
GO:0001657	Process	Ureteric bud development	ISS
GO:0003002	Process	Regionalization	IEA
GO:0003419	Process	Growth plate cartilage chondrocyte proliferation	IEA
GO:0003419	Process	Growth plate cartilage chondrocyte proliferation	ISS	19113921
GO:0005125	Function	Cytokine activity	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	ISS	10049596
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	ISS
GO:0007369	Process	Gastrulation	IEA
GO:0007369	Process	Gastrulation	ISS	10049596
GO:0007399	Process	Nervous system development	IMP	9660951
GO:0008283	Process	Cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	ISS	10049596
GO:0009888	Process	Tissue development	IEA
GO:0009948	Process	Anterior/posterior axis specification	IEA
GO:0009948	Process	Anterior/posterior axis specification	ISS	10049596
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0009952	Process	Anterior/posterior pattern specification	ISS	10049596
GO:0016015	Function	Morphogen activity	IBA
GO:0016015	Function	Morphogen activity	IDA	9660951
GO:0023019	Process	Signal transduction involved in regulation of gene expression	IBA
GO:0023019	Process	Signal transduction involved in regulation of gene expression	IEA
GO:0023019	Process	Signal transduction involved in regulation of gene expression	ISS	10049596
GO:0030178	Process	Negative regulation of Wnt signaling pathway	ISS
GO:0030282	Process	Bone mineralization	IMP	19113921
GO:0030514	Process	Negative regulation of BMP signaling pathway	IEA
GO:0030514	Process	Negative regulation of BMP signaling pathway	ISS	10049596
GO:0032926	Process	Negative regulation of activin receptor signaling pathway	IDA	9660951
GO:0032926	Process	Negative regulation of activin receptor signaling pathway	IEA
GO:0032926	Process	Negative regulation of activin receptor signaling pathway	ISS
GO:0035582	Process	Sequestering of BMP in extracellular matrix	IBA
GO:0035582	Process	Sequestering of BMP in extracellular matrix	IDA	9660951
GO:0035582	Process	Sequestering of BMP in extracellular matrix	IEA
GO:0035582	Process	Sequestering of BMP in extracellular matrix	ISS
GO:0036122	Function	BMP binding	IDA	9660951
GO:0042074	Process	Cell migration involved in gastrulation	IEA
GO:0042074	Process	Cell migration involved in gastrulation	ISS	10049596
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0048263	Process	Determination of dorsal identity	IMP	9660951
GO:0048513	Process	Animal organ development	IEA
GO:0048731	Process	System development	IEA
GO:0061371	Process	Determination of heart left/right asymmetry	IBA
GO:0071276	Process	Cellular response to cadmium ion	IEA
GO:2000381	Process	Negative regulation of mesoderm development	IEA
GO:2000381	Process	Negative regulation of mesoderm development	IMP	9660951
GO:2000381	Process	Negative regulation of mesoderm development	ISS

MIM	HGNC	e!Ensembl
603777	1862	ENSG00000147869

O95813

Protein name

Cerberus (Cerberus-related protein) (DAN domain family member 4)

Protein function

Cytokine that may play a role in anterior neural induction and somite formation during embryogenesis in part through a BMP-inhibitory mechanism. Can regulate Nodal signaling during gastrulation as well as the formation and patterning of the prim

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03045	DAN	135 → 244	DAN domain	Domain

Sequence

MHLLLFQLLVLLPLGKTTRHQDGRQNQSSLSPVLLPRNQRELPTGNHEEAEEKPDLFVAV
PHLVATSPAGEGQRQREKMLSRFGRFWKKPEREMHPSRDSDSEPFPPGTQSLIQPIDGMK
MEKSPLREEAKKFWHHFMFRKTPASQGVILPIKSHEVHWETCRTVPFSQTITHEGCEKVV
VQNNLCFGKCGSVHFPGAAQHSHTSCSHCLPAKFTTMHLPLNCTELSSVIKVVMLVEECQ
CKVKTEHEDGHILHAGSQDSFIPGVSA

Sequence length

267

Interactions

View interactions

	KEGG		Reactome
	Wnt signaling pathway		Signaling by BMP

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (11)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29159559		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	34859850	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	11158607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	29159559		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metopic synostosis	Metopic synostosis	BEFREE	16526918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10610706, 12386293, 17174104, 18230801		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	24138842		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	24138842, 34859850	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	24138842		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	10610706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	BEFREE	16526918		★★★★★ ★☆☆☆☆ Found in Text Mining only

CER1 (cerberus 1, DAN family BMP antagonist)