DAND5
entrez
199699
canonical
uniprot
Q8N907
canonical
ensembl
ENSG00000179284
resolver
ensp
ENSP00000323155
resolver
enst
ENST00000317060
resolver
genesymbol
DAND5
resolver
genesymbol_syn
CER2
resolver
genesymbol_syn
CKTSF1B3
resolver
genesymbol_syn
COCO
resolver
genesymbol_syn
GREM3
resolver
genesymbol_syn
SP1
resolver
hgnc
HGNC:26780
resolver
uniprot_entry
DAND5_HUMAN
resolver
amino_acid_sequence
MLLGQLSTLLCLLSGALPTGSGRPEPQSPRPQSWAAANQTWALGPGALPPLVPASALGSWKAFLGLQKARQLGMGRLQRGQDEVAAVTLPLNPQEVIQGMCKAVPFVQVFSRPGCSAIRLRNHLCFGHCSSLYIPGSDPTPLVLCNSCMPARKRWAPVVLWCLTGSSASRRRVKISTMLIEGCHCSPKA
uniprot
proteins
disease_involvement
DISEASE: Heterotaxy, visceral, 13, autosomal (HTX13) [MIM:621079]: A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX13 inheritance is autosomal recessive. {ECO:0000269|PubMed:34215651, ECO:0000269|PubMed:36316122}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Antagonist of the extracellular signaling protein NODAL, which is required for correct left-right patterning during embryonic development (By similarity). Antagonist of BMP and TGF-beta signaling (PubMed:33587337). Independently of its role in left-right axis establishment, plays a role during heart development, possibly through the regulation of TGF-beta/Nodal signaling pathway (By similarity). Displays anti-angiogenic activity by inhibiting endothelial sprouting, migration, and proliferation. Once internalized by endothelial cells, may alter their redox and glycolytic balance (PubMed:33587337). {ECO:0000250|UniProtKB:Q76LW6, ECO:0000269|PubMed:33587337}.
uniprot
proteins
mass_dalton
20180
uniprot
proteins
protein_family
DAN family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15254711
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
33587337
uniprot
proteins
pubmed
34215651
uniprot
proteins
pubmed
36316122
uniprot
proteins
sequence_length
189
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000305}. Note=Circulating DAND5 may be uptaken by endothelial cells and transported to mitochondria. {ECO:0000269|PubMed:33587337}.
uniprot
proteins