AutismKB 2.0

Annotation Detail for RYR2


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Basic Information Top
Gene Symbol:RYR2 ( ARVC2,ARVD2,VTSIP )
Gene Full Name: ryanodine receptor 2 (cardiac)
Band: 1q43
Quick LinksEntrez ID:6262; OMIM: 180902; Uniprot ID:RYR2_HUMAN; ENSEMBL ID: ENSG00000198626; HGNC ID: 10484
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2808Phosphoserine; by CaMK (By similarity).
3427N-linked (GlcNAc...) (Potential).
3536N-linked (GlcNAc...) (Potential).
3770N-linked (GlcNAc...) (Potential).
3864N-linked (GlcNAc...) (Potential).
3865N-linked (GlcNAc...) (Potential).
3905N-linked (GlcNAc...) (Potential).
4075N-linked (GlcNAc...) (Potential).
4104N-linked (GlcNAc...) (Potential).
4111N-linked (GlcNAc...) (Potential).
4794N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
2031PhosphoserinePhospho.ELM 6.0
2808Phosphoserine (PKA
2808Phosphoserine (by CaMK) (By similarity).Swiss-Prot 53.0
3427N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3536N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3770N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3864N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3865N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3905N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
4075N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
4104N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
4111N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
4794N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
131S-palmitoylHMM predict
132S-palmitoylHMM predict
198N-linkedHMM predict
218O-linkedHMM predict
218O-linkedHMM predict
408Phosphoserine(ATM)HMM predict
620S-palmitoylHMM predict
703Phosphotyrosine(Syk)HMM predict
703Phosphotyrosine(Jak)HMM predict
742Phosphoserine(IKK)HMM predict
742Phosphoserine(PKB)HMM predict
858O-linkedHMM predict
976Phosphotyrosine(Syk)HMM predict
991Phosphoserine(ATM)HMM predict
991Phosphoserine(IKK)HMM predict
1130Phosphoserine(CK1)HMM predict
1236Phosphotyrosine(Syk)HMM predict
1292Phosphoserine(IKK)HMM predict
1337SulfotyrosineHMM predict
1337Phosphotyrosine(Syk)HMM predict
1417Phosphotyrosine(Syk)HMM predict
1417SulfotyrosineHMM predict
1427Phosphotyrosine(Jak)HMM predict
1531Phosphotyrosine(Syk)HMM predict
1765Phosphoserine(CDC2)HMM predict
1856Phosphothreonine(MAPK)HMM predict
1856Phosphothreonine(CK2)HMM predict
1861Phosphoserine(CK1)HMM predict
1861Phosphoserine(CK2)HMM predict
1869Phosphoserine(CK1)HMM predict
1869Phosphoserine(CK2)HMM predict
1958Phosphothreonine(PKC)HMM predict
1962Phosphothreonine(PKC)HMM predict
1984Phosphoserine(IKK)HMM predict
2016Phosphoserine(CK1)HMM predict
2052Phosphoserine(CK1)HMM predict
2052O-linkedHMM predict
2204S-palmitoylHMM predict
2207Phosphoserine(PKG)HMM predict
2220Phosphotyrosine(Jak)HMM predict
2298Phosphotyrosine(EGFR)HMM predict
2366Phosphoserine(IKK)HMM predict
2366Phosphoserine(CK2)HMM predict
2374Phosphothreonine(CK2)HMM predict
2504O-linkedHMM predict
2685SulfotyrosineHMM predict
2685Phosphotyrosine(INSR)HMM predict
2710N-linkedHMM predict
2778Phosphoserine(PKG)HMM predict
2802N-linkedHMM predict
2808Phosphoserine(PKG)HMM predict
2808Phosphoserine(CAMK2)HMM predict
2808PhosphoserineHMM predict
2808Phosphoserine(PKA)HMM predict
2811Phosphoserine(IKK)HMM predict
2814Phosphoserine(CAMK2)HMM predict
2830N-linkedHMM predict
3095N-linkedHMM predict
3153Phosphoserine(PKG)HMM predict
3303Phosphoserine(ATM)HMM predict
3332Phosphothreonine(PKC)HMM predict
3501Phosphothreonine(CK2)HMM predict
3536N-linkedHMM predict
3542Phosphoserine(CK2)HMM predict
3547Phosphothreonine(PKC)HMM predict
3770N-linkedHMM predict
3857Phosphotyrosine(Syk)HMM predict
3864N-linkedHMM predict
3865N-linkedHMM predict
3869N-linkedHMM predict
3959Phosphoserine(ATM)HMM predict
3992N-linkedHMM predict
4058SulfotyrosineHMM predict
4075N-linkedHMM predict
4080SulfotyrosineHMM predict
4111N-linkedHMM predict
4240Phosphothreonine(PKC)HMM predict
4275Phosphothreonine(PKC)HMM predict
4470Phosphotyrosine(SRC)HMM predict
4500Phosphotyrosine(Syk)HMM predict
4550Phosphoserine(CK1)HMM predict
4567Phosphotyrosine(SRC)HMM predict
4567Phosphotyrosine(INSR)HMM predict
4567Phosphotyrosine(Syk)HMM predict
4567PhosphotyrosineHMM predict
4567Phosphotyrosine(Abl)HMM predict
4622Phosphoserine(CK2)HMM predict
4693Phosphoserine(CK1)HMM predict
4725Phosphotyrosine(INSR)HMM predict
4794N-linkedHMM 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 19131648
hsa-miR-1 hsa-mir-1-1 20 19131648
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