AutismKB 2.0

Annotation Detail for MDM2


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Basic Information Top
Gene Symbol:MDM2 ( HDMX,MGC5370,MGC71221,hdm2 )
Gene Full Name: Mdm2 p53 binding protein homolog (mouse)
Band: 12q15
Quick LinksEntrez ID:4193; OMIM: 164785; Uniprot ID:MDM2_HUMAN; ENSEMBL ID: ENSG00000135679; HGNC ID: 6973
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
166Phosphoserine.
185Nuclear localization signal (Potential).
202Nuclear export signal.
473Nucleolar localization signal
Location(AA) Modifications Resource
157PhosphoserinePhospho.ELM 6.0
166Phosphoserine (DAPK3;PKB
186Phosphoserine (PKB
188Phosphoserine (PKB
240PhosphoserinePhospho.ELM 6.0
242PhosphoserinePhospho.ELM 6.0
246PhosphoserinePhospho.ELM 6.0
260PhosphoserinePhospho.ELM 6.0
262PhosphoserinePhospho.ELM 6.0
269PhosphoserinePhospho.ELM 6.0
394Phosphotyrosine (Abl)Phospho.ELM 6.0
395Phosphoserine (ATM)Phospho.ELM 6.0
407Phosphoserine (ATR)Phospho.ELM 6.0
Location(AA) Modification Resource
22O-linkedHMM predict
48Phosphotyrosine(Jak)HMM predict
116Phosphoserine(CK1)HMM predict
118Phosphoserine(CK1)HMM predict
118Phosphoserine(IKK)HMM predict
148Phosphoserine(CK1)HMM predict
158Phosphothreonine(PKC)HMM predict
159Phosphoserine(CDC2)HMM predict
166Phosphoserine(PKB)HMM predict
166Phosphoserine(PKG)HMM predict
166Phosphoserine(CAMK2)HMM predict
176Phosphoserine(CK1)HMM predict
186Phosphoserine(PKB)HMM predict
188Phosphoserine(CK1)HMM predict
192Phosphoserine(CK2)HMM predict
212Phosphoserine(IKK)HMM predict
212Phosphoserine(CK1)HMM predict
212O-linkedHMM predict
213O-linkedHMM predict
213Phosphoserine(CK1)HMM predict
213O-linkedHMM predict
216O-linkedHMM predict
218Phosphothreonine(CDC2)HMM predict
232Phosphoserine(CK1)HMM predict
240Phosphoserine(IKK)HMM predict
240Phosphoserine(CK1)HMM predict
256PhosphoserineHMM predict
259SulfotyrosineHMM predict
259Phosphotyrosine(INSR)HMM predict
260Phosphoserine(CK1)HMM predict
262Phosphoserine(CK1)HMM predict
269Phosphoserine(ATM)HMM predict
269Phosphoserine(CK2)HMM predict
269Phosphoserine(CK2)HMM predict
276Phosphotyrosine(Syk)HMM predict
290Phosphoserine(CK2)HMM predict
290Phosphoserine(IKK)HMM predict
349N-linkedHMM predict
368N-linkedHMM predict
388Phosphoserine(ATM)HMM predict
394Phosphotyrosine(INSR)HMM predict
394Phosphotyrosine(Syk)HMM predict
394Phosphotyrosine(Abl)HMM predict
394PhosphotyrosineHMM predict
394SulfotyrosineHMM predict
395Phosphoserine(IKK)HMM predict
395Phosphoserine(ATM)HMM predict
395Phosphoserine(CK1)HMM predict
399O-linkedHMM predict
400Phosphoserine(CK1)HMM predict
406Phosphoserine(CK2)HMM predict
425PhosphoserineHMM predict
425Phosphoserine(CK2)HMM predict
425Phosphoserine(CK1)HMM predict
429Phosphoserine(IKK)HMM predict
464S-palmitoylHMM predict
475S-farnesylHMM predict
478S-farnesylHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 19229884
hsa-miR-1 hsa-mir-1-1 20 19229884
hsa-miR-125a-3p hsa-mir-125a 19 20542030
hsa-miR-125a-5p hsa-mir-125a 19 20542030
hsa-miR-125b hsa-mir-125b-1 11 20542030
hsa-miR-125b hsa-mir-125b-2 21 20542030
hsa-miR-142-3p hsa-mir-142 17 19229884
hsa-miR-191 hsa-mir-191 3 21084273
hsa-miR-191* hsa-mir-191 3 21084273
hsa-miR-192 hsa-mir-192 11 20951946
hsa-miR-192* hsa-mir-192 11 20951946
hsa-miR-194 hsa-mir-194-1 1 20951946
hsa-miR-215 hsa-mir-215 1 20951946
hsa-miR-221 hsa-mir-221 X 20576614
hsa-miR-221* hsa-mir-221 X 20576614
hsa-miR-331-3p hsa-mir-331 12 19229884
hsa-miR-331-5p hsa-mir-331 12 19229884
hsa-miR-34a hsa-mir-34a 1 21217645
hsa-miR-34a hsa-mir-34a 1 20606648
hsa-miR-34a hsa-mir-34a 1 20581456
hsa-miR-34a hsa-mir-34a 1 20089965
hsa-miR-34a hsa-mir-34a 1 18711402
hsa-miR-34a hsa-mir-34a 1 18677110
hsa-miR-34a hsa-mir-34a 1 19461653
hsa-miR-34a* hsa-mir-34a 1 21217645
hsa-miR-34a* hsa-mir-34a 1 20606648
hsa-miR-34a* hsa-mir-34a 1 20581456
hsa-miR-34a* hsa-mir-34a 1 20089965
hsa-miR-34a* hsa-mir-34a 1 18711402
hsa-miR-34a* hsa-mir-34a 1 18677110
hsa-miR-34a* hsa-mir-34a 1 19461653
hsa-miR-34b hsa-mir-34b 11 20581456
hsa-miR-34b hsa-mir-34b 11 19461653
hsa-miR-34b* hsa-mir-34b 11 20581456
hsa-miR-34b* hsa-mir-34b 11 19461653
hsa-miR-34c-3p hsa-mir-34c 11 20581456
hsa-miR-34c-3p hsa-mir-34c 11 19461653
hsa-miR-34c-5p hsa-mir-34c 11 20581456
hsa-miR-34c-5p hsa-mir-34c 11 19461653
hsa-miR-605 hsa-mir-605 10 21217645
No data
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018