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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Heterotaxy Likely pathogenic; Pathogenic rs768842269 RCV001732154
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CONGENITAL HEART DISEASE ClinGen, Disgenet
ClinGen, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Heterotaxy, visceral, 13, autosomal Uncertain significance ClinVar
ClinVar, HPO
ClinVar, HPO
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SITUS AMBIGUUS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 23649655, 29575609
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 18628415
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 16087722
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 15972967
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 31545826 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer disease, familial, type 3 Alzheimer disease BEFREE 31545826
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 28352075
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 17957039
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 12911785
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 29948615
★☆☆☆☆
Found in Text Mining only