Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4838
Gene name Gene Name - the full gene name approved by the HGNC.
Nodal growth differentiation factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NODAL
Synonyms (NCBI Gene) Gene synonyms aliases
HTX5
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs104894169 C>T Pathogenic, uncertain-significance Missense variant, coding sequence variant
rs121909283 C>A,T Pathogenic, likely-benign, likely-pathogenic Stop gained, missense variant, coding sequence variant
rs150819707 G>A Not-provided, conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, missense variant
rs555563029 C>T Likely-pathogenic Missense variant, coding sequence variant
rs878855044 C>T Likely-pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023342 hsa-miR-122-5p Microarray 17612493
MIRT054063 hsa-miR-378a-5p Luciferase reporter assay, Western blot 22454525
MIRT054063 hsa-miR-378a-5p Luciferase reporter assay, Western blot 22454525
MIRT611697 hsa-miR-4438 HITS-CLIP 23824327
MIRT667198 hsa-miR-6858-3p HITS-CLIP 23824327
Transcription factors
Transcription factor Regulation Reference
NANOG Unknown 23474366
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0001701 Process In utero embryonic development IEA
GO:0001702 Process Gastrulation with mouth forming second IEA
GO:0001704 Process Formation of primary germ layer IEA
GO:0001707 Process Mesoderm formation IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601265 7865 ENSG00000156574
Protein
UniProt ID Q96S42
Protein name Nodal homolog
Protein function Essential for mesoderm formation and axial patterning during embryonic development.
PDB 4N1D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00019 TGF_beta 246 346 Transforming growth factor beta like domain Domain
Sequence
MHAHCLPFLLHAWWALLQAGAATVATALLRTRGQPSSPSPLAYMLSLYRDPLPRADIIRS
LQAEDVAVDGQNWTFAFDFSFLSQQEDLAWAELRLQLSSPVDLPTEGSLAIEIFHQPKPD
TEQASDSCLERFQMDLFTVTLSQVTFSLGSMVLEVTRPLSKWLKHPGALEKQMSRVAGEC
WPRPPTPPATNVLLMLYSNLSQEQRQLGGSTLLWEAESSWRAQEGQLSWEWGKRHRRHHL
PDRSQLCRKVKFQVDFNLIGWGSWIIYPKQYNAYRCEGECPNPVGEEFHPTNHAYIQSLL
KRYQPHRVPSTCCAPVKTKPLSMLYVDNGRVLLDHHKDMIVEECGC
L
Sequence length 347
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Cytokine-cytokine receptor interaction
TGF-beta signaling pathway
Signaling pathways regulating pluripotency of stem cells
 
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Heterotaxy, Visceral heterotaxy, visceral, 5, autosomal rs1564667617, rs1447874899, rs1564667078, rs1589152470, rs878855044, rs1564667180 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Holoprosencephaly Holoprosencephaly sequence N/A N/A ClinVar
Wolff-Parkinson-White Syndrome Wolff-Parkinson-White pattern N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 19553149
Azoospermia Associate 26289399
Azoospermia Nonobstructive Associate 26289399
Biliary Atresia Associate 25765999
Breast Diseases Associate 22643182
Breast Neoplasms Associate 18334633, 22031289, 22577960, 22643182, 23680691, 26370966, 27007464, 32427827, 32636849, 33784590, 37870468
Calcinosis Cutis Associate 22031289, 34769150
Carcinogenesis Associate 24696849
Carcinoma Embryonal Associate 17970049
Carcinoma Hepatocellular Associate 24465741