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Results for the Protein: P43694
215274105

GATA4_HUMAN RecName: Full=Transcription factor GATA-4; AltName: Full=GATA-binding factor 4

Known Diseases associated with this Protein:
  ATRIAL SEPTAL DEFECT 2
  ATRIAL SEPTAL DEFECT 2 (ASD2)
  ATRIOVENTRICULAR SEPTAL DEFECT 4
  ATRIOVENTRICULAR SEPTAL DEFECT 4 (AVSD4)
  TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE (1 FAMILY)
  TETRALOGY OF FALLOT, INCLUDED
  VENTRICULAR SEPTAL DEFECT 1
  VENTRICULAR SEPTAL DEFECT 1 (VSD1)
  VENTRICULAR SEPTAL DEFECT 1, INCLUDED;;
32
4
15
1
20
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Default View:

GATA-N - pfam05349
ZnF_GATA - smart00401
ZnF_GATA - cd00202
GATA - pfam00320


Swiss-Prot Protein: P43694
Identical to: NP_002043
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ZnF_GATAcd002023.2e-22216267
ZnF_GATAcd002021.3e-27270321
GATApfam003204.8e-17217251
GATApfam003201.3e-19271305
GATA-Npfam053491.9e-1001208
ZnF_GATAsmart004013.6e-19212261
ZnF_GATAsmart004016.2e-25266315

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_067616Diseasep.ALA346VALAtrioventricular septal defect 4 (AVSD4)
Swiss-ProtVAR_067620Polymorphismp.ALA411VALN/A
Swiss-ProtVAR_067623Diseasep.ALA442VALVentricular septal defect 1 (VSD1)
Swiss-ProtVAR_067605Diseasep.ALA6VALVentricular septal defect 1 (VSD1)
Swiss-ProtVAR_067606Diseasep.ARG43TRPVentricular septal defect 1 (VSD1)
Swiss-ProtVAR_067621Diseasep.ASP425ASNAtrial septal defect 2 (ASD2)
Swiss-ProtVAR_067615Diseasep.GLN316GLUAtrial septal defect 2 (ASD2)
Swiss-ProtVAR_067617Diseasep.GLU359LYSVentricular septal defect 1 (VSD1)
Swiss-ProtVAR_067608Polymorphismp.GLY93ALAN/A
Swiss-ProtVAR_067613Diseasep.GLY296ARGVentricular septal defect 1 (VSD1)
Swiss-ProtVAR_067612Diseasep.GLY296CYSAtrial septal defect 2 (ASD2)
Swiss-ProtVAR_016204Diseasep.GLY296SERAtrial septal defect 2 (ASD2)
Swiss-ProtVAR_067618Diseasep.LEU403METAtrial septal defect 2 (ASD2)
Swiss-ProtVAR_067614Diseasep.MET310VALAtrial septal defect 2 (ASD2)
Swiss-ProtVAR_067619Diseasep.PRO407GLNVentricular septal defect 1 (VSD1)
Swiss-ProtVAR_067610Diseasep.PRO163SERAtrioventricular septal defect 4 (AVSD4)
Swiss-ProtVAR_038196Polymorphismp.SER377GLYN/A
Swiss-ProtVAR_038195Diseasep.SER52PHEAtrial septal defect 2 (ASD2)
Swiss-ProtVAR_067622Diseasep.SER429THRVentricular septal defect 1 (VSD1)
Swiss-ProtVAR_067611Diseasep.THR280METAtrial septal defect 2 (ASD2)
dbSNPrs114868912 Polymorphismp.VAL380METN/A
OMIM600576.0008 Diseasep.ALA346VALATRIOVENTRICULAR SEPTAL DEFECT 4
OMIM600576.0010 Diseasep.ALA442VALVENTRICULAR SEPTAL DEFECT 1
OMIM600576.0015 Diseasep.ARG43TRPVENTRICULAR SEPTAL DEFECT 1
OMIM600576.0005 Diseasep.ASP425ASNATRIAL SEPTAL DEFECT 2||TETRALOGY OF FALLOT, INCLUDED
OMIM600576.0004 Diseasep.GLN316GLUATRIAL SEPTAL DEFECT 2
OMIM600576.0009 Diseasep.GLU359LYSVENTRICULAR SEPTAL DEFECT 1
OMIM600576.0018 Diseasep.GLY221ARGTESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE (1 family)
OMIM600576.0014 Diseasep.GLY296ARGVENTRICULAR SEPTAL DEFECT 1
OMIM600576.0006 Diseasep.GLY296CYSATRIAL SEPTAL DEFECT 2
OMIM600576.0001 Diseasep.GLY296SERATRIAL SEPTAL DEFECT 2
OMIM600576.0017 Diseasep.MET310VALATRIAL SEPTAL DEFECT 2
OMIM600576.0011 600576.0013 Diseasep.PRO407GLNVENTRICULAR SEPTAL DEFECT 1
OMIM600576.0007 Diseasep.PRO163SERATRIOVENTRICULAR SEPTAL DEFECT 4||VENTRICULAR SEPTAL DEFECT 1, INCLUDED;;||TETRALOGY OF FALLOT, INCLUDED
OMIM600576.0003 Diseasep.SER52PHEATRIAL SEPTAL DEFECT 2
OMIM600576.0016 Diseasep.THR280METATRIAL SEPTAL DEFECT 2



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