KEGG   Homo sapiens (human): 860
Entry
860               CDS       T01001                                 

Gene name
RUNX2, AML3, CBF-alpha-1, CBFA1, CCD, CCD1, CLCD, OSF-2, OSF2, PEA2aA, PEBP2aA
Definition
(RefSeq) RUNX family transcription factor 2
  KO
K09278  runt-related transcription factor 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04928  Parathyroid hormone synthesis, secretion and action
hsa05202  Transcriptional misregulation in cancer
Network
nt06240  Transcription
  Element
N00119  MLL-AF4 fusion to transcriptional activation
Disease
H00521  Cleidocranial dysplasia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09152 Endocrine system
   04928 Parathyroid hormone synthesis, secretion and action
    860 (RUNX2)
 09160 Human Diseases
  09161 Cancer: overview
   05202 Transcriptional misregulation in cancer
    860 (RUNX2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    860 (RUNX2)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  beta-Scaffold factors with minor groove contacts
   Runt
    860 (RUNX2)
SSDB
Motif
Pfam: Runt RunxI DUF2722 Spt20 Med3 DUF2828 Trp_oprn_chp BAF1_ABF1 EPL1 TERB2
Other DBs
NCBI-GeneID: 860
NCBI-ProteinID: NP_001019801
OMIM: 600211
HGNC: 10472
Ensembl: ENSG00000124813
Vega: OTTHUMG00000014774
Pharos: Q13950(Tbio)
UniProt: Q13950
LinkDB
Position
6p21.1
AA seq 521 aa
MASNSLFSTVTPCQQNFFWDPSTSRRFSPPSSSLQPGKMSDVSPVVAAQQQQQQQQQQQQ
QQQQQQQQQQQEAAAAAAAAAAAAAAAAAVPRLRPPHDNRTMVEIIADHPAELVRTDSPN
FLCSVLPSHWRCNKTLPVAFKVVALGEVPDGTVVTVMAGNDENYSAELRNASAVMKNQVA
RFNDLRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKVTVDGPREPRRHRQKLDDSKPS
LFSDRLSDLGRIPHPSMRVGVPPQNPRPSLNSAPSPFNPQGQSQITDPRQAQSSPPWSYD
QSYPSYLSQMTSPSIHSTTPLSSTRGTGLPAITDVPRRISDDDTATSDFCLWPSTLSKKS
QAGASELGPFSDPRQFPSISSLTESRFSNPRMHYPATFTYTPPVTSGMSLGMSATTHYHT
YLPPPYPGSSQSQSGPFQTSSTPYLYYGTSSGSYQFPMVPGGDRSPSRMLPPCTTTSNGS
TLLNPNLPNQNDGVDADGSHSSSPTVLNSSGRMDESVWRPY
NT seq 1566 nt   +upstreamnt  +downstreamnt
atggcatcaaacagcctcttcagcacagtgacaccatgtcagcaaaacttcttttgggat
ccgagcaccagccggcgcttcagccccccctccagcagcctgcagcccggcaaaatgagc
gacgtgagcccggtggtggctgcgcaacagcagcagcaacagcagcagcagcaacagcag
cagcagcagcagcaacagcagcagcagcagcaggaggcggcggcggcggctgcggcggcg
gcggcggctgcggcggcggcagctgcagtgccccggttgcggccgccccacgacaaccgc
accatggtggagatcatcgccgaccacccggccgaactcgtccgcaccgacagccccaac
ttcctgtgctcggtgctgccctcgcactggcgctgcaacaagaccctgcccgtggccttc
aaggtggtagccctcggagaggtaccagatgggactgtggttactgtcatggcgggtaac
gatgaaaattattctgctgagctccggaatgcctctgctgttatgaaaaaccaagtagca
aggttcaacgatctgagatttgtgggccggagtggacgaggcaagagtttcaccttgacc
ataaccgtcttcacaaatcctccccaagtagctacctatcacagagcaattaaagttaca
gtagatggacctcgggaacccagaaggcacagacagaagcttgatgactctaaacctagt
ttgttctctgaccgcctcagtgatttagggcgcattcctcatcccagtatgagagtaggt
gtcccgcctcagaacccacggccctccctgaactctgcaccaagtccttttaatccacaa
ggacagagtcagattacagaccccaggcaggcacagtcttccccgccgtggtcctatgac
cagtcttacccctcctacctgagccagatgacgtccccgtccatccactctaccaccccg
ctgtcttccacacggggcactgggcttcctgccatcaccgatgtgcctaggcgcatttca
gatgatgacactgccacctctgacttctgcctctggccttccactctcagtaagaagagc
caggcaggtgcttcagaactgggccctttttcagaccccaggcagttcccaagcatttca
tccctcactgagagccgcttctccaacccacgaatgcactatccagccacctttacttac
accccgccagtcacctcaggcatgtccctcggtatgtccgccaccactcactaccacacc
tacctgccaccaccctaccccggctcttcccaaagccagagtggacccttccagaccagc
agcactccatatctctactatggcacttcgtcaggatcctatcagtttcccatggtgccg
gggggagaccggtctccttccagaatgcttccgccatgcaccaccacctcgaatggcagc
acgctattaaatccaaatttgcctaaccagaatgatggtgttgacgctgatggaagccac
agcagttccccaactgttttgaattctagtggcagaatggatgaatctgtttggcgacca
tattga

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