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Results for the Protein: P10071
269849770

GLI3_HUMAN RecName: Full=Transcriptional activator GLI3; AltName: Full=GLI3 form of 190 kDa; Short=GLI3-190; AltName: Full=GLI3 full length protein; Short=GLI3FL; Contains: RecName: Full=Transcriptional repressor GLI3R; AltName: Full=GLI3 C-terminally truncated form; AltName: Full=GLI3 form of 83 kDa; Short=GLI3-83

Known Diseases associated with this Protein:
  GREIG CEPHALO-POLY-SYNDACTYLY SYNDROME (GCPS)
  GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
  GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, SEVERE
  PALLISTER-HALL SYNDROME
  POLYDACTYLY, POSTAXIAL B (PAPB)
  POSTAXIAL POLYDACTYLY, TYPE A1/B
  PREAXIAL POLYDACTYLY, TYPE IV, INCLUDED
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Default View:

ZnF_C2H2 - smart00355
zf-C2H2 - pfam00096


Swiss-Prot Protein: P10071
Identical to: NP_000159
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
zf-C2H2pfam000961.2e-05546570
zf-C2H2pfam000960.00012576601
zf-C2H2pfam000961e-06607632
ZnF_C2H2smart003552.6e-05546570
ZnF_C2H2smart003554.2e-05576601
ZnF_C2H2smart003552.6e-06607632

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_021482Diseasep.ALA934PROGreig cephalo-poly-syndactyly syndrome (GCPS)
dbSNPrs35364414 Polymorphismp.ARG1537CYSN/A
Swiss-ProtVAR_021481Diseasep.ARG625TRPGreig cephalo-poly-syndactyly syndrome (GCPS)
Swiss-ProtVAR_010052Polymorphismp.ASP440GLUN/A
Swiss-ProtVAR_010053Diseasep.CYS515GLYGreig cephalo-poly-syndactyly syndrome (GCPS)
Swiss-ProtVAR_010054Diseasep.CYS520TYRGreig cephalo-poly-syndactyly syndrome (GCPS)
Swiss-ProtVAR_009876Diseasep.GLY727ARGPolydactyly, postaxial B (PAPB)
dbSNPrs35280470 Polymorphismp.GLY1336GLUN/A
Swiss-ProtVAR_010056Diseasep.ILE808METGreig cephalo-poly-syndactyly syndrome (GCPS)
Swiss-ProtVAR_035560Polymorphismp.PRO169LEUN/A
dbSNPrs929387 Polymorphismp.PRO998LEUN/A
Swiss-ProtVAR_010055Diseasep.PRO707SERGreig cephalo-poly-syndactyly syndrome (GCPS)
dbSNPrs79049330 Polymorphismp.SER1028ILEN/A
Swiss-ProtVAR_035561Polymorphismp.SER1304PRON/A
dbSNPrs846266 Polymorphismp.THR183ALAN/A
OMIM165240.0013 Diseasep.ALA934PROGREIG CEPHALOPOLYSYNDACTYLY SYNDROME, SEVERE
OMIM165240.0014 Diseasep.ARG290TERGREIG CEPHALOPOLYSYNDACTYLY SYNDROME||PREAXIAL POLYDACTYLY, TYPE IV, INCLUDED
OMIM165240.0008 Diseasep.ARG643TERPOSTAXIAL POLYDACTYLY, TYPE A1/B
OMIM165240.0016 Diseasep.ARG792TERGREIG CEPHALOPOLYSYNDACTYLY SYNDROME
OMIM165240.0012 Diseasep.ARG625TRPGREIG CEPHALOPOLYSYNDACTYLY SYNDROME
OMIM165240.0018 Diseasep.GLN496TERGREIG CEPHALOPOLYSYNDACTYLY SYNDROME
OMIM165240.0006 Diseasep.GLU1147TERPALLISTER-HALL SYNDROME
OMIM165240.0010 Diseasep.GLU543TERGREIG CEPHALOPOLYSYNDACTYLY SYNDROME
OMIM165240.0009 Diseasep.GLY727ARGPOSTAXIAL POLYDACTYLY, TYPE A1/B
OMIM165240.0019 Diseasep.PRO707SERGREIG CEPHALOPOLYSYNDACTYLY SYNDROME



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