Gene Gene information from NCBI Gene database.
Entrez ID 4838
Gene name Nodal growth differentiation factor
Gene symbol NODAL
Synonyms (NCBI Gene)
HTX5
Chromosome 10
Chromosome location 10q22.1
Summary 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.
8
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.
398
miRTarBase ID miRNA Experiments Reference
MIRT023342 hsa-miR-122-5p Microarray 17612493
MIRT054063 hsa-miR-378a-5p Luciferase reporter assayWestern blot 22454525
MIRT054063 hsa-miR-378a-5p Luciferase reporter assayWestern blot 22454525
MIRT611697 hsa-miR-4438 HITS-CLIP 23824327
MIRT667198 hsa-miR-6858-3p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
NANOG Unknown 23474366
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
96
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601265 7865 ENSG00000156574
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
186
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Heterotaxy, visceral, 5, autosomal Pathogenic; Likely pathogenic rs772802856, rs2493095831, rs878855044, rs2493085626, rs1564667180, rs1564667617, rs1447874899, rs1564667078, rs1589152470, rs1589152355 RCV001381991
RCV004594649
RCV000231796
RCV004595206
RCV000754877
RCV000754878
RCV000754879
RCV000692352
RCV000821532
RCV001267676
NODAL-related disorder Likely pathogenic rs2493087333 RCV003335895
Visceral heterotaxy Likely pathogenic rs555563029 RCV001824138
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs2279254 RCV005891840
Congenitally corrected transposition of the great arteries Conflicting classifications of pathogenicity rs772802856 RCV001007638
Heart, malformation of Uncertain significance; Conflicting classifications of pathogenicity rs751176757, rs781366461, rs1845430541 RCV005414677
RCV001257381
RCV001257382
Holoprosencephaly sequence Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance rs10999338, rs1904589, rs150819707, rs10999334, rs2231959, rs184218697, rs553447349, rs58468830, rs886047098, rs886047099, rs2279254, rs374692279, rs886047100, rs752979542, rs886047102
View all (33 more)
RCV000337591
RCV000348733
RCV001107530
RCV000324034
RCV000384312
RCV000279055
RCV000304331
RCV000342830
RCV000364757
RCV000306394
RCV000333116
RCV000318092
RCV000379278
RCV000345169
RCV000396599
RCV000299723
RCV000384350
RCV000399976
RCV000363504
RCV000290925
RCV000308501
RCV000311896
RCV000368813
RCV000330986
RCV000350811
RCV000302530
RCV000287323
RCV000347667
RCV000354209
RCV000376036
RCV000299703
RCV000264437
RCV000270266
RCV000385523
RCV001107529
RCV001106785
RCV001106788
RCV001107421
RCV001105738
RCV001106855
RCV001106856
RCV001106859
RCV001107531
RCV001103911
RCV001103913
RCV001104193
RCV001106969
RCV001107628
Associations from Text MiningDisease 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