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chorion-specific transcription factor GCMb; hGCMb; GCM motif protein 2; Glial cells missing homolog 2 (GCM2, GCMB)
Function:
- probable transcriptional regulator
Structure: contains 1 GCM DNA-binding domain
Compartment: nucleus (putative)
Pathology:
- defects in GCM2 are a cause of autosomal dominant hypoparathyroidism
General
transcription factor (TF)
Properties
SIZE: entity length = 506 aa
MW = 57 kD
COMPARTMENT: cell nucleus
MOTIF: DNA-binding motif
SITE: 19-174
MOTIF: Zn+2-binding site
SITE: 81-81
Zn+2-binding site
SITE: 87-87
Zn+2-binding site
SITE: 91-91
Zn+2-binding site
SITE: 118-118
Zn+2-binding site
SITE: 121-121
Zn+2-binding site
SITE: 130-130
Zn+2-binding site
SITE: 157-157
Zn+2-binding site
SITE: 159-159
Database Correlations
OMIM correlations
MORBIDMAP 603716
UniProt O75603
Pfam PF03615
Entrez Gene 9247
Kegg hsa:9247
References
UniProt :accession O75603