Gene Gene information from NCBI Gene database.
Entrez ID 199699
Gene name DAN domain BMP antagonist family member 5
Gene symbol DAND5
Synonyms (NCBI Gene)
CER2CERL2CKTSF1B3COCOCRL2DANTEGREM3HTX13SP1
Chromosome 19
Chromosome location 19p13.13
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 bel
miRNA miRNA information provided by mirtarbase database.
276
miRTarBase ID miRNA Experiments Reference
MIRT704383 hsa-miR-508-5p HITS-CLIP 23313552
MIRT704382 hsa-miR-25-3p HITS-CLIP 23313552
MIRT704381 hsa-miR-32-5p HITS-CLIP 23313552
MIRT704380 hsa-miR-363-3p HITS-CLIP 23313552
MIRT704379 hsa-miR-367-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0003140 Process Determination of left/right asymmetry in lateral mesoderm IEA
GO:0003140 Process Determination of left/right asymmetry in lateral mesoderm ISS
GO:0003140 Process Determination of left/right asymmetry in lateral mesoderm NAS 17507406
GO:0003281 Process Ventricular septum development IEA
GO:0003281 Process Ventricular septum development ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609068 26780 ENSG00000179284
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N907
Protein name DAN domain family member 5 (Cerberus-like protein 2) (Cerl-2) (Cysteine knot superfamily 1, BMP antagonist 3) (Gremlin-3)
Protein 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 l
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03045 DAN 76 188 DAN domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the retina, in inner segments of photoreceptors, at or close to the outer plexiform layer and in the ganglion cell layer (at protein level). {ECO:0000269|PubMed:33587337}.
Sequence
MLLGQLSTLLCLLSGALPTGSGRPEPQSPRPQSWAAANQTWALGPGALPPLVPASALGSW
KAFLGLQKARQLGMGRLQRGQDEVAAVTLPLNPQEVIQGMCKAVPFVQVFSRPGCSAIRL
RNHLCFGHCSSLYIPGSDPTPLVLCNSCMPARKRWAPVVLWCLTGSSASRRRVKISTMLI
EGCHCSPK
A
Sequence length 189
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
4
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Heterotaxy Likely pathogenic; Pathogenic rs768842269 RCV001732154
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Heterotaxy, visceral, 13, autosomal Uncertain significance rs2512665729 RCV005051954
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 28990063
Cleft Lip Associate 28230599
Heart Defects Congenital Associate 28738792, 29136563
Heart Septal Defects Ventricular Associate 28738792
Heterotaxy Syndrome Associate 36316122
Hypertrophy Right Ventricular Associate 28738792
Hypoxia Brain Associate 37850636
Kidney Failure Chronic Associate 30212930
Laterality Defects Autosomal Dominant Associate 28738792, 29136563
Pulmonary Atresia Associate 28738792