Results for the protein: P23769

Results for the Protein: P23769

229462971

2624

GATA2

NCBI, UniProt

GATA2_HUMAN RecName: Full=Endothelial transcription factor GATA-2; AltName: Full=GATA-binding protein 2

Known Diseases associated with this Protein:
  DEFICIENCY
  DENDRITIC CELL MONOCYTE LYMPHOCYTE B AND NATURAL KILLER LYMPHOCYTE DEFICIENCY (DCML)
  DENDRITIC CELL, MONOCYTE, B LYMPHOCYTE, AND NATURAL KILLER LYMPHOCYTE
  LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA
  LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA (LMPM)
  MYELODYSPLASTIC SYNDROME (MDS)
  MYELODYSPLASTIC SYNDROME, SUSCEPTIBIL

11

2

6

2

5

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Default View: ZnF_GATA - smart00401 ZnF_GATA - cd00202 GATA - pfam00320	Swiss-Prot Protein: P23769 Identical to: NP_116027, NP_001139133 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ZnF_GATA	cd00202	1.1e-25	348	399
GATA	pfam00320	8.3e-18	295	329
GATA	pfam00320	5.5e-19	349	383
ZnF_GATA	smart00401	7.4e-21	290	339
ZnF_GATA	smart00401	1.1e-24	344	393

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2335052	Polymorphism	p.ALA164THR	N/A
Swiss-Prot	VAR_066644	Disease	p.ARG361PRO	Lymphedema, primary, with myelodysplasia (LMPM)
Swiss-Prot	VAR_066407	Disease	p.ARG398TRP	Dendritic cell monocyte lymphocyte B and natural killer lymphocyte deficiency (DCML)
Swiss-Prot	VAR_066645	Disease	p.CYS373ARG	Lymphedema, primary, with myelodysplasia (LMPM)
Swiss-Prot	VAR_066405	Disease	p.PRO254LEU	Dendritic cell monocyte lymphocyte B and natural killer lymphocyte deficiency (DCML)
dbSNP	rs35079193	Polymorphism	p.THR235ASN	N/A
Swiss-Prot	VAR_066406	Disease	p.THR354MET	Myelodysplastic syndrome (MDS)
OMIM	137295.0013	Disease	p.ARG361LEU	LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA
OMIM	137295.0011	Disease	p.ARG337TER	LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA
OMIM	137295.0001	Disease	p.ARG398TRP	DENDRITIC CELL, MONOCYTE, B LYMPHOCYTE, AND NATURAL KILLER LYMPHOCYTE\|\|DEFICIENCY
OMIM	137295.0012	Disease	p.CYS373ARG	LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA
OMIM	137295.0003	Disease	p.PRO254LEU	DENDRITIC CELL, MONOCYTE, B LYMPHOCYTE, AND NATURAL KILLER LYMPHOCYTE\|\|DEFICIENCY
OMIM	137295.0002	Disease	p.THR354MET	DENDRITIC CELL, MONOCYTE, B LYMPHOCYTE, AND NATURAL KILLER LYMPHOCYTE\|\|DEFICIENCY\|\|MYELODYSPLASTIC SYNDROME, SUSCEPTIBIL

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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