DAND5

Protein identityUniProt · HPA

UniProt accession

Q8N907

Gene

DAND5

Ensembl

ENSG00000179284

Chromosome

19

Canonical length

189 aa

Protein class

Predicted secreted proteins

Subcellular location

Mitochondria

Secretome location

Secreted in other tissues

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

189 residues, UniProt reviewed canonical sequence.

>Q8N907|DAND5
     1  MLLGQLSTLL CLLSGALPTG SGRPEPQSPR PQSWAAANQT WALGPGALPP LVPASALGSW
    61  KAFLGLQKAR QLGMGRLQRG QDEVAAVTLP LNPQEVIQGM CKAVPFVQVF SRPGCSAIRL
   121  RNHLCFGHCS SLYIPGSDPT PLVLCNSCMP ARKRWAPVVL WCLTGSSASR RRVKISTMLI
   181  EGCHCSPKA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DAND5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.53

Highest tissue expression

7.9 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DAND5.

Disease | AllUniProt

Conditions DAND5 is implicated in, by any mechanism.

• Heterotaxy, visceral, 13, autosomal (HTX13) MIM:621079

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 31 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Heterotaxy

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.79

gnomAD pLI

0

gnomAD missense Z

-0.36

DepMap mean gene effect

-0.16

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• atrial septum development
• determination of heart left/right asymmetry
• determination of left/right asymmetry in lateral mesoderm
• determination of left/right symmetry
• negative regulation of BMP signaling pathway
• negative regulation of nodal signaling pathway
• negative regulation of transforming growth factor beta receptor signaling pathway
• nodal signaling pathway
• sequestering of BMP in extracellular matrix
• signal transduction involved in regulation of gene expression
• ventricular septum development
• sequestering of nodal from receptor via nodal binding

Molecular functions

• morphogen activity

Cellular components

• extracellular region
• extracellular space

Protein domainsUniProt · Pfam · InterPro

• DAN
• Cerberus
• Cystine-knot cytokine
• DAN domain

KeywordsUniProt

• Disulfide bond
• Glycoprotein
• Heterotaxy
• Secreted
• Signal