DAND5 DAN domain BMP antagonist family member 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DAND5provided by HGNC
Official Full Name: DAN domain BMP antagonist family member 5provided by HGNC
Primary source: HGNC:HGNC:26780
See related: Ensembl:ENSG00000179284 MIM:609068; AllianceGenome:HGNC:26780
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: SP1; CER2; COCO; CRL2; CERL2; DANTE; GREM3; CKTSF1B3
Summary: This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. In mouse, this protein has been shown to bind Nodal and to inhibit the Nodal signaling pathway which patterns left/right body asymmetry. [provided by RefSeq, Jul 2008]
Expression: Biased expression in heart (RPKM 2.6), brain (RPKM 0.4) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.13

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (12969576..12974760)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (13094079..13099264)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (13080390..13085574)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome.
Title: A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome.
Generation of a gene-corrected human induced pluripotent stem cell line derived from a patient with laterality defects and congenital heart anomalies with a c.455G > A alteration in DAND5.
Title: Generation of a gene-corrected human induced pluripotent stem cell line derived from a patient with laterality defects and congenital heart anomalies with a c.455G > A alteration in DAND5.
Coco may be a player in the bone morphogenetic protein dysregulation and the tissue repair failure in multiple sclerosis
Title: Reduced levels of Coco in sera of multiple sclerosis patients: A potential role in neuro-regeneration failure.
High DAND5 expression is associated with tumor growth and angiogenesis in breast cancer.
Title: The BMP inhibitor DAND5 in serum predicts poor survival in breast cancer.
In this work, we report two patients with a DAND5 heterozygous non-synonymous variant (c.455G > A) in the functional domain of the DAND5 protein (p.R152H), a master regulator of Nodal signaling. Patient 1 presents left isomerism, ventricular septal defect with overriding aorta and pulmonary atresia, while patient 2 presents ventricular septal defect with overriding aorta, right ventricular hypertrophy
Title: Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defects.
A gain-of-function cDNA screen reveals that Coco, a secreted antagonist of TGF-beta ligands, induces dormant breast cancer cells to undergo reactivation in the lung.
Title: The BMP inhibitor Coco reactivates breast cancer cells at lung metastatic sites.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

D8S2279 (e-PCR)
- UniSTS:473907

NoName (e-PCR)
- UniSTS:488148

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables morphogen activity	IBA Inferred from Biological aspect of Ancestor more info
enables morphogen activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in atrial septum development	ISS Inferred from Sequence or Structural Similarity more info
involved_in determination of heart left/right asymmetry	IBA Inferred from Biological aspect of Ancestor more info
involved_in determination of heart left/right asymmetry	ISS Inferred from Sequence or Structural Similarity more info
involved_in determination of left/right asymmetry in lateral mesoderm	ISS Inferred from Sequence or Structural Similarity more info
involved_in determination of left/right asymmetry in lateral mesoderm	NAS Non-traceable Author Statement more info	PubMed
involved_in determination of left/right symmetry	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of BMP signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of nodal signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transforming growth factor beta receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in nodal signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in sequestering of BMP in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
involved_in sequestering of nodal from receptor via nodal binding	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 ventricular septum development	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: DAN domain family member 5

Names: DAN domain family member 5, BMP antagonist; DAN domain family, member 5; cerberus 2; cerberus-like 2; cerberus-like protein 2; cerl-2; cysteine knot superfamily 1, BMP antagonist 3; gremlin-3

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.