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Results for the Protein: Q13950
17368460
860

RUNX2_HUMAN RecName: Full=Runt-related transcription factor 2; AltName: Full=Acute myeloid leukemia 3 protein; AltName: Full=Core-binding factor subunit alpha-1; Short=CBF-alpha-1; AltName: Full=Oncogene AML-3; AltName: Full=Osteoblast-specific transcription factor 2; Short=OSF-2; AltName: Full=Polyomavirus enhancer-binding protein 2 alpha A subunit; Short=PEA2-alpha A; Short=PEBP2-alpha A; AltName: Full=SL3-3 enhancer factor 1 alpha A subunit; AltName: Full=SL3/AKV core-binding factor alpha A subunit

Known Diseases associated with this Protein:
  CLEIDOCRANIAL DYSPLASIA
  CLEIDOCRANIAL DYSPLASIA (CLCD)
  CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED
53
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Default View:

Runt - pfam00853
RunxI - pfam08504


Swiss-Prot Protein: Q13950
Identical to: NP_001019801
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Runtpfam008537e-105100233
RunxIpfam085043.4e-53427521

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_064097Diseasep.ALA211PROCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_064106Diseasep.ALA362VALCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_064083Diseasep.ARG131CYSCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_012142Diseasep.ARG193CYSCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_012137Diseasep.ARG169GLNCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_012139Diseasep.ARG190GLNCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_064093Diseasep.ARG193GLNCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_012148Diseasep.ARG225GLNCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_064084Diseasep.ARG131GLYCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_064103Diseasep.ARG228GLYCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_064102Diseasep.ARG225LEUCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_064089Diseasep.ARG169PROCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_064085Diseasep.ARG131SERCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_012140Diseasep.ARG190TRPCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_012149Diseasep.ARG225TRPCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_064105Diseasep.ASP287ASNCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_012135Diseasep.CYS123ARGCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_012147Diseasep.GLN209ARGCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_064096Diseasep.GLN209HISCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_064081Diseasep.GLN53LEUCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_012150Polymorphismp.GLY511SERN/A
Swiss-ProtVAR_064095Diseasep.ILE201LYSCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_012132Diseasep.LEU113ARGCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_012144Diseasep.LEU199PHECleidocranial dysplasia (CLCD)
Swiss-ProtVAR_064086Diseasep.LEU136PROCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_064104Diseasep.LYS233ARGCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_064099Diseasep.LYS218ASNCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_064100Diseasep.LYS218GLNCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_064098Diseasep.LYS218GLUCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_012138Diseasep.MET175ARGCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_064090Diseasep.MET175LYSCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_064091Diseasep.MET175VALCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_012134Diseasep.PHE121CYSCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_064092Diseasep.PHE187SERCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_012143Diseasep.PHE197SERCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_012133Diseasep.SER118ARGCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_064082Diseasep.SER118ASNCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_012141Diseasep.SER191ASNCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_012145Diseasep.THR200ALACleidocranial dysplasia (CLCD)
Swiss-ProtVAR_012146Diseasep.THR205ARGCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_064108Diseasep.THR420ASNCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_064094Diseasep.THR200ILECleidocranial dysplasia (CLCD)
Swiss-ProtVAR_064101Diseasep.THR220ILECleidocranial dysplasia (CLCD)
Swiss-ProtVAR_064107Diseasep.THR420ILECleidocranial dysplasia (CLCD)
Swiss-ProtVAR_064087Diseasep.VAL156ASPCleidocranial dysplasia (CLCD)
Swiss-ProtVAR_064088Diseasep.VAL156GLYCleidocranial dysplasia (CLCD)
OMIM600211.0008 Diseasep.ARG225GLNCLEIDOCRANIAL DYSPLASIA
OMIM600211.0012 Diseasep.ARG169PROCLEIDOCRANIAL DYSPLASIA
OMIM600211.0009 Diseasep.ARG225TRPCLEIDOCRANIAL DYSPLASIA
OMIM600211.0004 Diseasep.MET175ARGCLEIDOCRANIAL DYSPLASIA
OMIM600211.0005 Diseasep.SER191ASNCLEIDOCRANIAL DYSPLASIA
OMIM600211.0011 Diseasep.TER522SERCLEIDOCRANIAL DYSPLASIA
OMIM600211.0010 Diseasep.THR200ALACLEIDOCRANIAL DYSPLASIA||CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED
OMIM600211.0002 Diseasep.TRP283TERCLEIDOCRANIAL DYSPLASIA



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