CER1 cerberus 1, DAN family BMP antagonist [Homo sapiens (human)] - Gene

Summary

Official Symbol: CER1provided by HGNC
Official Full Name: cerberus 1, DAN family BMP antagonistprovided by HGNC
Primary source: HGNC:HGNC:1862
See related: Ensembl:ENSG00000147869 MIM:603777; AllianceGenome:HGNC:1862
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DAND4
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 (BMP) antagonists that can bind directly to BMPs and inhibit their activity. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 9p22.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (14717326..14722733, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (14724810..14732441, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (14719722..14722731, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CER 1 gene polymorphism in postmenopausal Roma and non-Roma Slovak women in connection with osteoporosis.
Title: CER 1 gene polymorphism in postmenopausal Roma and non-Roma Slovak women in connection with osteoporosis.
Cerberus binds and inhibits Nodal, Activin B, BMP-6, and BMP-7 but not BMP-2 or Activin A.
Title: New Ligand Binding Function of Human Cerberus and Role of Proteolytic Processing in Regulating Ligand-Receptor Interactions and Antagonist Activity.
No significant association between the studied DKK1 variations and osteoporosis was found, while CER1 variations seem to play a significant role in the determination of osteoporosis, combined with bone markers, in postmenopausal osteoporotic women.
Title: CER1 gene variations associated with bone mineral density, bone markers, and early menopause in postmenopausal women.
results show that Cer1 (or CER1) serves as a good marker for quantification of definitive endoderm differentiation of mouse and human ES/iPS cells
Title: Secreted cerberus1 as a marker for quantification of definitive endoderm differentiation of the pluripotent stem cells.
CER1 gene variations play a significant role in determining BMD and vertebral or hip fractures, which might be helpful in clinical practice to identify patients with increased fracture risk
Title: Novel sequence variations in the CER1 gene are strongly associated with low bone mineral density and risk of osteoporotic fracture in postmenopausal women.
Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
Title: A gene-based risk score for lung cancer susceptibility in smokers and ex-smokers.
successful identification of an association with CER1 in humans together with our mouse study suggests that CER1 may play a role in the development of bone or its metabolism
Title: Genome-wide haplotype association mapping in mice identifies a genetic variant in CER1 associated with BMD and fracture in southern Chinese women.
Observational study of gene-disease association. (HuGE Navigator)
Title: High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.
functional candidate gene for trigonocephaly
Title: Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables BMP binding	IDA Inferred from Direct Assay more info	PubMed
enables cytokine activity	IEA Inferred from Electronic Annotation more info
enables morphogen activity	IBA Inferred from Biological aspect of Ancestor more info
enables morphogen activity	IDA Inferred from Direct Assay more info	PubMed
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in anterior/posterior axis specification	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in anterior/posterior pattern specification	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell migration involved in gastrulation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in cellular response to cadmium ion	IEA Inferred from Electronic Annotation more info
involved_in determination of dorsal identity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in determination of heart left/right asymmetry	IBA Inferred from Biological aspect of Ancestor more info
involved_in gastrulation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in growth plate cartilage chondrocyte proliferation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of BMP signaling pathway	ISS Inferred from Sequence or Structural Similarity more info	PubMed
NOT involved_in negative regulation of Wnt signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of activin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of activin receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of mesoderm development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of mesoderm development	ISS Inferred from Sequence or Structural Similarity more info
involved_in nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sequestering of BMP in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
involved_in sequestering of BMP in extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
involved_in sequestering of BMP in extracellular matrix	ISS Inferred from Sequence or Structural Similarity more info
involved_in signal transduction involved in regulation of gene expression	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction involved in regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in ureteric bud development	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in extracellular region	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: cerberus

Names: DAN domain family member 4; cerberus 1, cysteine knot superfamily, homolog; cerberus-related 1; cerberus-related protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.