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Gene Model: Nodal

NomenclatureGenomic Location
SymbolNodalChromosome2
NameNodalLinkage mapunknown
SpeciesDracomimus familiarisGenome CoordinatesChr2: 12 Mbp

Molecular Function

Essential for mesoderm formation and axial patterning during embryonic development.

Molecular Function Terms:

binding
   protein binding
      receptor binding
         growth factor activity

Human Disease Association

Defects in NODAL are the cause of visceral heterotaxy autosomal type 5 (HTX5) [MIM:270100]. A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. It results in an abnormal arrangement of visceral organs, and a wide variety of congenital defects. Clinical features of visceral heterotaxy autosomal type 5 include situs inversus viscerum or situs ambiguus, congenital heart defect, transposition of the great vessels ventricular septal defect, atrial septal defect, truncuscommunis, and dextrocardia.

Predicted Transcript
     1 GTCCATCAGGTGGGACAAAAATGGAGCATTGTTTTCAACCTTTCTATTTATCAAGAAGAA
    61 GAGCTGCAGCTAGCTGAGTTAAGACTTCACCTGCCCAGGTCTGAGAGGAACTCTTCTTTC
   121 AACAGTACACCAGTGTCAGTGGAGCTGTATCACCGGCAGGAAATAAATTGCCCAAGTGCC
   181 CAAAGCTGCATACATATTAACCACTTAGGCTCCTTTGGGGTATCCCCATCAGCACCTTCA
   241 AACTGGATAGTCCTGGAAGTCACAGAGCAGCTGCAGAAGTGGTTTGCCAATAGCAGTTCA
   301 GCAAAGGATCCTGCCAAGGAAGTTGTAAATCAAAGACAGCAACATAAAAAAAATCTTCCA
   361 AAGACAGTAACCAGCAAGTGTGGATCTGTGGATAGAAGGGCCATATTGGTGCTTTTCTTA
   421 AGACTTTCCAAAGGAAAGAAAGAATTAAGTGGCCCGACTTTACTCCAGACAGTGAAGGGT
   481 TCAAAATTCATTCATCAGGAGACACCAAAAAAGACAGTATCCCTCTGGAACAGCAAGAGG
   541 CACAGGCGCCACAAGAACCCCAAAGATTCATCTTCACTGAGCTCGGAAGAGCTAGAGCTC
   601 AAACAACTGTGTCGAAGGGTGGACTTCCTTATTAACTTTGAGGCGATAGGCTGGGATTCC
   661 TGGATTGTATATCCCAAGCAATACAATGCCTTCCGCTGTGAGGGAATGTGTCCTGTCCCA
   721 TTGAGAGAAGAATTCCAGCCAACAAACAATGCCTATATGCAGAGTGTGCTGAAATACCAT
   781 TATCCTGAACGAGTTCCTACTGCCTGCTGCATCCCAGTGAGACTGAGCCCGCTAAGCCTG
   841 CTCTATTATGAAGAAGGACGGATTAGCTTAGGTCATCATGAAGATATGATAGTGGAAGAG
   901 TGTGGATGTCGCTGA

Predicted Protein Product
VHQVGQKWSIVFNLSIYQEEELQLAELRLHLPRSERNSSFNSTPVSVELYHRQEINCPSA
QSCIHINHLGSFGVSPSAPSNWIVLEVTEQLQKWFANSSSAKDPAKEVVNQRQQHKKNLP
KTVTSKCGSVDRRAILVLFLRLSKGKKELSGPTLLQTVKGSKFIHQETPKKTVSLWNSKR
HRRHKNPKDSSSLSSEELELKQLCRRVDFLINFEAIGWDSWIVYPKQYNAFRCEGMCPVP
LREEFQPTNNAYMQSVLKYHYPERVPTACCIPVRLSPLSLLYYEEGRISLGHHEDMIVEE
CGCR
Protein Alignment to Mouse
sp|P43021|NODAL_MOUSE Nodal OS=Mus musculus GN=Nodal PE=2 SV=1
        Length = 354

 Score = 430 (156.4 bits), Expect = 4.0e-41, P = 4.0e-41
 Identities = 106/307 (34%), Positives = 154/307 (50%)

Query:     1 VHQVGQKWSIVFNLSIYQXXXXXXXXXXXXXPRSERNSSFNSTPVSVELYHRQEINCPSA 60
             V   GQ W+  F+ S                     +      P++++++H+ + + P  
Sbjct:    67 VDVTGQNWTFTFDFSFLSQEEDLVWADVRLQLPGPMDIPTEG-PLTIDIFHQAKGD-PER 124

Query:    61 Q--SCIHINHLGSFGVSPSAPSNWIVLEVTEQLQKWFANSSSAKDPA--KEVVNQRQQHK 116
                 C+    + +F V PS  +      V E  +     S   KDP   ++ V+ R +  
Sbjct:   125 DPADCLERIWMETFTVIPSQVTFASGSTVLEVTKPL---SKWLKDPRALEKQVSSRAEKC 181

Query:   117 KNLPKTVTSKCGSVDRRAILVLFLRLSKGKKELSGPTLLQTVKGSKFIHQETPKKTVSLW 176
              + P T      S +   +L+L+    + +++L G TLL   + S    +         W
Sbjct:   182 WHQPYTPPVPVASTN---VLMLYSNRPQEQRQLGGATLLWEAESSWRAQEGQLSVERGGW 238

Query:   177 NSKRHRRHKNPKDXXXXXXXXXXXKQLCRRVDFLINFEAIGWDSWIVYPKQYNAFRCEGM 236
               +R RRH  P              QLCRRV F ++F  IGW SWI+YPKQYNA+RCEG 
Sbjct:   239 G-RRQRRHHLPD-----------RSQLCRRVKFQVDFNLIGWGSWIIYPKQYNAYRCEGE 286

Query:   237 CPVPLREEFQPTNNAYMQSVLKYHYPERVPTACCIPVRLSPLSLLYYEEGRISLGHHEDM 296
             CP P+ EEF PTN+AY+QS+LK + P RVP+ CC PV+  PLS+LY + GR+ L HH+DM
Sbjct:   287 CPNPVGEEFHPTNHAYIQSLLKRYQPHRVPSTCCAPVKTKPLSMLYVDNGRVLLEHHKDM 346

Query:   297 IVEECGC 303
             IVEECGC
Sbjct:   347 IVEECGC 353