KEGG   Homo sapiens (human): 9247Help
Entry
9247              CDS       T01001                                 

Gene name
GCM2, GCMB, HRPT4, hGCMb
Definition
(RefSeq) glial cells missing transcription factor 2
  KO
K21598  chorion-specific transcription factor GCM
Organism
hsa  Homo sapiens (human)
Pathway
hsa04928  Parathyroid hormone synthesis, secretion and action
Network
nt06318  CaSR-PTH signaling
  Element
N00293  GCM2-mediated transcription
N00294  Mutation-activated GCM2 to transcription
N00295  Mutation-inactivated GCM2 to transcription
N00296  Mutation-inactivated PTH to degradation
Disease
H00246  Primary hyperparathyroidism
H01862  Hypoparathyroidism
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09152 Endocrine system
   04928 Parathyroid hormone synthesis, secretion and action
    9247 (GCM2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    9247 (GCM2)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Other transcription factors
   Others
    9247 (GCM2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: GCM
Motif
Other DBs
NCBI-GeneID: 9247
NCBI-ProteinID: NP_004743
OMIM: 603716
HGNC: 4198
Ensembl: ENSG00000124827
Vega: OTTHUMG00000014249
Pharos: O75603(Tbio)
UniProt: O75603
LinkDB All DBs
Position
6p24.2
AA seq 506 aa AA seqDB search
MPAAAVQEAVGVCSYGMQLSWDINDPQMPQELALFDQFREWPDGYVRFIYSSDEKKAQRH
LSGWAMRNTNNHNGHILKKSCLGVVVCTQACTLPDGSRLQLRPAICDKARLKQQKKACPN
CHSALELIPCRGHSGYPVTNFWRLDGNAIFFQAKGVHDHPRPESKSETEARRSAIKRQMA
SFYQPQKKRIRESEAEENQDSSGHFSNIPPLENPEDFDIVTETSFPIPGQPCPSFPKSDV
YKATCDLATFQGDKMPPFQKYSSPRIYLPRPPCSYELANPGYTNSSPYPTLYKDSTSIPN
DTDWVHLNTLQCNVNSYSSYERSFDFTNKQHGWKPALGKPSLVERTNHGQFQAMATRPYY
NPELPCRYLTTPPPGAPALQTVITTTTKVSYQAYQPPAMKYSDSVREVKSLSSCNYAPED
TGMSVYPEPWGPPVTVTRAASPSGPPPMKIAGDCRAIRPTVAIPHEPVSSRTDEAETWDV
CLSGLGSAVSYSDRVGPFFTYNNEDF
NT seq 1521 nt NT seq  +upstreamnt  +downstreamnt
atgccggcggccgcggtgcaggaagcggtcggcgtgtgctcctacgggatgcagctcagc
tgggacatcaacgatccgcagatgcctcaggagctggccctctttgaccaattccgagag
tggcctgacggctatgtgcgcttcatctacagcagcgatgagaagaaggcacagcgtcac
ctgagcggctgggccatgcgcaacaccaacaaccacaatggccacatcctcaagaagtcg
tgcctgggtgtggtggtgtgtacacaggcctgcaccctgcccgacggttcccgcctgcag
ctgaggccggccatctgcgacaaggcacggctgaaacagcagaagaaggcatgccctaac
tgtcattctgctttggagttgattccttgtcgagggcacagcggataccccgtaaccaac
ttttggcggcttgatggcaacgcgatcttttttcaggccaagggagttcatgatcatcca
agaccagagagcaaatcagagacagaagctagaagaagcgccatcaagagacaaatggcc
tctttctaccaaccccagaaaaagagaattcgagaatccgaggcagaagaaaatcaagac
agcagtggtcatttcagcaacatacctcccttggaaaatccagaagactttgatatagtt
actgaaaccagcttccctattccagggcagccttgcccttccttcccaaagtctgatgtt
tacaaagctacctgtgacctagccacctttcaaggagacaaaatgccacccttccagaaa
tactcaagcccaagaatctatttgcctaggccaccttgcagctatgaattggcaaaccct
ggttatacaaattcaagcccatatcccaccctttataaggattccaccagtatccctaat
gacacagactgggttcatctgaacacactacaatgtaatgtcaattcatacagcagctat
gagagaagctttgatttcaccaacaaacagcatggctggaaaccagctcttggaaaaccc
agccttgtggaaaggactaaccatgggcagtttcaggccatggccactcgcccttattat
aacccagagcttccctgcaggtacctcacgactccaccaccaggtgcccctgccctacaa
accgtgatcaccaccaccactaaagtgtcctaccaggcctaccagccccctgctatgaaa
tacagtgacagtgtgcgagaggtgaagagcctttcgagctgtaactatgctcctgaagat
actgggatgtctgtctatccagaaccctggggtcctccggtgacagtcaccagggcagcc
tctccttcagggccacctcctatgaaaattgcaggagattgccgggccatcagacccact
gtggctattccccacgagccagtttcctctaggacagatgaagcagagacttgggatgtg
tgtctgtctgggctgggctccgcagtcagttactcagacagagtgggtcccttctttacc
tacaacaatgaggatttttga

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