GCM2 (glial cells missing transcription factor 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9247
Gene name Gene Name - the full gene name approved by the HGNC.
Glial cells missing transcription factor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GCM2
Synonyms (NCBI Gene) Gene synonyms aliases
FIH2, GCMB, HRPT4, hGCMb
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p24.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is a homolog of the Drosophila glial cells missing gene, which is thought to act as a binary switch between neuronal and glial cell determination. The protein encoded by this gene contains a conserved N-terminal GCM motif that has DNA-binding ac
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
SNP ID Visualize variation Clinical significance Consequence
rs104893959 C>A,T Pathogenic Coding sequence variant, missense variant
rs104893960 C>T Pathogenic Coding sequence variant, missense variant
rs142287570 T>G Pathogenic, uncertain-significance Missense variant, coding sequence variant
rs533942394 T>C,G Likely-pathogenic Missense variant, coding sequence variant
rs759190203 ->A Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
miRTarBase ID miRNA Experiments Reference
MIRT497339 hsa-miR-548b-3p PAR-CLIP 22291592
MIRT497338 hsa-miR-4511 PAR-CLIP 22291592
MIRT497337 hsa-miR-500a-5p PAR-CLIP 22291592
MIRT497336 hsa-miR-362-5p PAR-CLIP 22291592
MIRT497335 hsa-miR-500b-5p PAR-CLIP 22291592
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(25)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IMP 20190276, 27745835
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603716 4198 ENSG00000124827
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O75603
Protein name Chorion-specific transcription factor GCMb (hGCMb) (GCM motif protein 2) (Glial cells missing homolog 2)
Protein function Transcription factor that binds specific sequences on gene promoters and activate their transcription. Through the regulation of gene transcription, may play a role in parathyroid gland development. {ECO:0000269|PubMed:20190276, ECO:0000269|PubM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03615 GCM 35 → 172 GCM motif protein Family
Sequence 
MPAAAVQEAVGVCSYGMQLSWDINDPQMPQELALFDQFREWPDGYVRFIYSSDEKKAQRH
LSGWAMRNTNNHNGHILKKSCLGVVVCTQACTLPDGSRLQLRPAICDKARLKQQKKACPN
CHSALELIPCRGHSGYPVTNFWRLDGNAIFFQAKGVHDHPRPESKSETEARRSAIKRQMA
SFYQPQKKRIRESEAEENQDSSGHFSNIPPLENPEDFDIVTETSFPIPGQPCPSFPKSDV
YKATCDLATFQGDKMPPFQKYSSPRIYLPRPPCSYELANPGYTNSSPYPTLYKDSTSIPN
DTDWVHLNTLQCNVNSYSSYERSFDFTNKQHGWKPALGKPSLVERTNHGQFQAMATRPYY
NPELPCRYLTTPPPGAPALQTVITTTTKVSYQAYQPPAMKYSDSVREVKSLSSCNYAPED
TGMSVYPEPWGPPVTVTRAASPSGPPPMKIAGDCRAIRPTVAIPHEPVSSRTDEAETWDV
CLSGLGSAVSYSDRVGPFFTYNNEDF
Sequence length 506
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Parathyroid hormone synthesis, secretion and action  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hypoparathyroidism Hypoparathyroidism, familial isolated, 2, Familial hypoparathyroidism rs104893959, rs886037646, rs1554103179 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hyperparathyroidism familial isolated hyperparathyroidism, hyperparathyroidism 4 N/A N/A GenCC, ClinVar
Show/Hide Text Mining Associations (20)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Associate 28609842
Adenoma Inhibit 34077544
Breast Neoplasms Associate 37628841, 40691650
Calcium Metabolism Disorders Associate 33536578
Carcinogenesis Associate 28609842
Disease Associate 29108698, 29408534
Epileptic Syndromes Associate 29108698
Hypercalciuric Hypocalcemia Familial Associate 24823460
Hyperparathyroidism Associate 28609842, 36055286
Hyperparathyroidism 1 Associate 27745835, 29108698, 38130397