KEGG   Homo sapiens (human): 8521
Entry
8521              CDS       T01001                                 
Symbol
GCM1, GCMA, hGCMa
Name
(RefSeq) glial cells missing transcription factor 1
  KO
K21598  chorion-specific transcription factor GCM
Organism
hsa  Homo sapiens (human)
Pathway
hsa04928  Parathyroid hormone synthesis, secretion and action
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09152 Endocrine system
   04928 Parathyroid hormone synthesis, secretion and action
    8521 (GCM1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    8521 (GCM1)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Other transcription factors
   Others
    8521 (GCM1)
SSDB
Motif
Pfam: GCM
Other DBs
NCBI-GeneID: 8521
NCBI-ProteinID: NP_003634
OMIM: 603715
HGNC: 4197
Ensembl: ENSG00000137270
Vega: OTTHUMG00000014871
Pharos: Q9NP62(Tbio)
UniProt: Q9NP62
LinkDB
Position
6:complement(53126961..53148841)
AA seq 436 aa
MEPDDFDSEDKEILSWDINDVKLPQNVKKTDWFQEWPDSYAKHIYSSEDKNAQRHLSSWA
MRNTNNHNSRILKKSCLGVVVCGRDCLAEEGRKIYLRPAICDKARQKQQRKRCPNCDGPL
KLIPCRGHGGFPVTNFWRHDGRFIFFQSKGEHDHPKPETKLEAEARRAMKKVNTAPSSVS
LSLKGSTETRSLPGETQSQGSLPLTWSFQEGVQLPGSYSGHLIANTPQQNSLNDCFSFSK
SYGLGGITDLTDQTSTVDPMKLYEKRKLSSSRTYSSGDLLPPSASGVYSDHGDLQAWSKN
AALGRNHLADNCYSNYPFPLTSWPCSFSPSQNSSEPFYQQLPLEPPAAKTGCPPLWPNPA
GNLYEEKVHVDFNSYVQSPAYHSPQEDPFLFTYASHPHQQYSLPSKSSKWDFEEEMTYLG
LDHCNNDMLLNLCPLR
NT seq 1311 nt   +upstreamnt  +downstreamnt
atggaacctgacgactttgattctgaagacaaagagatattaagctgggatattaatgat
gtgaaactgccacagaacgtgaaaaaaaccgactggttccaggagtggccagattcctat
gccaaacacatctacagctcggaggacaagaatgcgcagcggcacctgagcagctgggcc
atgcgcaataccaacaaccacaactcccgcatcctcaagaagtcctgcctgggtgtggtg
gtgtgcggccgcgactgtctcgcagaggaggggcgcaagatctacctgagacctgccatc
tgtgacaaggcccggcagaagcagcagcggaaacgctgtcccaactgtgacgggcctctg
aagctcatcccttgccgaggtcatgggggcttcccggtcaccaacttctggaggcacgac
ggacgctttatatttttccagtcaaagggagagcatgatcatccaaaaccagaaaccaag
ttagaagctgaggcaagaagagccatgaagaaagtgaacacagcaccttcctccgtctca
ttgagcctgaaggggagcacagagaccaggtctcttccaggtgaaacacaaagtcagggg
agtttacctttaacttggtctttccaggaaggcgtccaattgcctggtagttacagtgga
catttaatagctaacactcctcagcagaactcactaaatgattgcttttccttctccaag
agttatggtctgggaggaatcacagatctgactgaccagacttccactgtggaccccatg
aagctctatgaaaagcgcaaattgtccagtagcagaacctacagtagtggagacctgctt
cctccttctgcctccggagtctactctgatcatggcgatctacaagcgtggagtaaaaat
gctgctttggggagaaatcatcttgctgacaactgttattccaattatccttttcctctg
accagctggccttgcagcttctctccttcccaaaactcttcagaacccttttaccagcag
cttccattggagccacctgcagccaaaactggctgtcccccattatggccaaatccagcg
ggtaatctttatgaagagaaagtacatgtggattttaacagctacgtccagtctcctgca
taccattcacctcaagaagacccctttctcttcacctacgcctctcatcctcatcagcaa
tattcactgccaagcaagagcagcaaatgggattttgaggaagaaatgacatacttgggt
ttggatcactgcaacaatgatatgcttctgaacctgtgtcctttgagatga

KEGG   Homo sapiens (human): 9247
Entry
9247              CDS       T01001                                 
Symbol
GCM2, FIH2, GCMB, HRPT4, hGCMb
Name
(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)
SSDB
Motif
Pfam: GCM
Other DBs
NCBI-GeneID: 9247
NCBI-ProteinID: NP_004743
OMIM: 603716
HGNC: 4198
Ensembl: ENSG00000124827
Vega: OTTHUMG00000014249
Pharos: O75603(Tbio)
UniProt: O75603
LinkDB
Position
6:complement(10873223..10882041)
AA seq 506 aa
MPAAAVQEAVGVCSYGMQLSWDINDPQMPQELALFDQFREWPDGYVRFIYSSDEKKAQRH
LSGWAMRNTNNHNGHILKKSCLGVVVCTQACTLPDGSRLQLRPAICDKARLKQQKKACPN
CHSALELIPCRGHSGYPVTNFWRLDGNAIFFQAKGVHDHPRPESKSETEARRSAIKRQMA
SFYQPQKKRIRESEAEENQDSSGHFSNIPPLENPEDFDIVTETSFPIPGQPCPSFPKSDV
YKATCDLATFQGDKMPPFQKYSSPRIYLPRPPCSYELANPGYTNSSPYPTLYKDSTSIPN
DTDWVHLNTLQCNVNSYSSYERSFDFTNKQHGWKPALGKPSLVERTNHGQFQAMATRPYY
NPELPCRYLTTPPPGAPALQTVITTTTKVSYQAYQPPAMKYSDSVREVKSLSSCNYAPED
TGMSVYPEPWGPPVTVTRAASPSGPPPMKIAGDCRAIRPTVAIPHEPVSSRTDEAETWDV
CLSGLGSAVSYSDRVGPFFTYNNEDF
NT seq 1521 nt   +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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