GCM2
entrez
9247
canonical
uniprot
O75603
canonical
ensembl
ENSG00000124827
resolver
ensp
ENSP00000368805
resolver
enst
ENST00000379491
resolver
genesymbol
GCM2
resolver
genesymbol_syn
GCMB
resolver
hgnc
HGNC:4198
resolver
uniprot
D3GDV6
resolver
uniprot
Q5THN5
resolver
uniprot_entry
GCM2_HUMAN
resolver
uniprot_sec
D3GDV6
resolver
uniprot_sec
Q5THN5
resolver
amino_acid_sequence
MPAAAVQEAVGVCSYGMQLSWDINDPQMPQELALFDQFREWPDGYVRFIYSSDEKKAQRHLSGWAMRNTNNHNGHILKKSCLGVVVCTQACTLPDGSRLQLRPAICDKARLKQQKKACPNCHSALELIPCRGHSGYPVTNFWRLDGNAIFFQAKGVHDHPRPESKSETEARRSAIKRQMASFYQPQKKRIRESEAEENQDSSGHFSNIPPLENPEDFDIVTETSFPIPGQPCPSFPKSDVYKATCDLATFQGDKMPPFQKYSSPRIYLPRPPCSYELANPGYTNSSPYPTLYKDSTSIPNDTDWVHLNTLQCNVNSYSSYERSFDFTNKQHGWKPALGKPSLVERTNHGQFQAMATRPYYNPELPCRYLTTPPPGAPALQTVITTTTKVSYQAYQPPAMKYSDSVREVKSLSSCNYAPEDTGMSVYPEPWGPPVTVTRAASPSGPPPMKIAGDCRAIRPTVAIPHEPVSSRTDEAETWDVCLSGLGSAVSYSDRVGPFFTYNNEDF
uniprot
proteins
disease_involvement
DISEASE: Hypoparathyroidism, familial isolated, 2 (FIH2) [MIM:618883]: An autosomal recessive form of hypoparathyroidism, a disorder characterized by hypocalcemia and hyperphosphatemia due to a deficiency of parathyroid hormone. Clinical features include seizures, tetany and cramps. {ECO:0000269|PubMed:15728199, ECO:0000269|PubMed:15863676, ECO:0000269|PubMed:20190276, ECO:0000269|PubMed:20463099, ECO:0000269|PubMed:23155703, ECO:0000269|Ref.3}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Hyperparathyroidism 4 (HRPT4) [MIM:617343]: A form of familial primary hyperparathyroidism, a hypercalcemic disorder caused by inappropriate oversecretion of parathyroid hormone due to parathyroid hyperplasia or neoplasms. Clinical features include hypercalcemia, phosphaturia, and increased bone resorption. HRPT4 inheritance is autosomal dominant. {ECO:0000269|PubMed:27745835}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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|PubMed:27745835, ECO:0000269|PubMed:9928992}.
uniprot
proteins
mass_dalton
56610
uniprot
proteins
pubmed
10343099
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15728199
uniprot
proteins
pubmed
15863676
uniprot
proteins
pubmed
20190276
uniprot
proteins
pubmed
20463099
uniprot
proteins
pubmed
21642377
uniprot
proteins
pubmed
23155703
uniprot
proteins
pubmed
27745835
uniprot
proteins
pubmed
9928992
uniprot
proteins
sequence_length
506
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20190276}.
uniprot
proteins