AutismKB 2.0

Annotation Detail for DSG2


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Basic Information Top
Gene Symbol:DSG2 ( ARVC10,ARVD10,CDHF5,CMD1BB,HDGC,MGC117034,MGC117036,MGC117037 )
Gene Full Name: desmoglein 2
Band: 18q12.1
Quick LinksEntrez ID:1829; OMIM: 125671; Uniprot ID:DSG2_HUMAN; ENSEMBL ID: ENSG00000046604; HGNC ID: 3049
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
112N-linked (GlcNAc...).
182N-linked (GlcNAc...).
309N-linked (GlcNAc...) (Potential).
462N-linked (GlcNAc...).
514N-linked (GlcNAc...) (Potential).
680Phosphoserine.
968Phosphotyrosine.
979Phosphotyrosine.
1013Phosphotyrosine.
Location(AA) Modifications Resource
112N-linked (GlcNAc...).Swiss-Prot 53.0
182N-linked (GlcNAc...).Swiss-Prot 53.0
309N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
462N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
514N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
680Phosphoserine.Swiss-Prot 53.0
968Phosphotyrosine.Swiss-Prot 53.0
1013Phosphotyrosine.Swiss-Prot 53.0
Location(AA) Modification Resource
112N-linkedHMM predict
182N-linkedHMM predict
233Phosphoserine(CK1)HMM predict
309N-linkedHMM predict
320Phosphotyrosine(INSR)HMM predict
342Phosphotyrosine(Syk)HMM predict
342Phosphotyrosine(SRC)HMM predict
342Phosphotyrosine(INSR)HMM predict
428Phosphotyrosine(Jak)HMM predict
462N-linkedHMM predict
512Phosphotyrosine(EGFR)HMM predict
514N-linkedHMM predict
553Phosphoserine(CK1)HMM predict
635S-palmitoylHMM predict
637S-palmitoylHMM predict
747O-linkedHMM predict
789N-linkedHMM predict
804Phosphothreonine(CK2)HMM predict
806Phosphoserine(IKK)HMM predict
806Phosphoserine(CK1)HMM predict
808N-linkedHMM predict
869Phosphoserine(IKK)HMM predict
882Phosphotyrosine(SRC)HMM predict
882Phosphotyrosine(INSR)HMM predict
883Phosphoserine(CK1)HMM predict
884O-linkedHMM predict
886O-linkedHMM predict
908Phosphothreonine(PKC)HMM predict
939O-linkedHMM predict
944O-linkedHMM predict
945O-linkedHMM predict
956Phosphoserine(ATM)HMM predict
973O-linkedHMM predict
1043N-linkedHMM predict
1056Phosphothreonine(PKC)HMM predict
1073N-linkedHMM predict
1077O-linkedHMM predict
1077O-linkedHMM predict
1097N-linkedHMM predict
1099O-linkedHMM predict
1102O-linkedHMM predict
1103O-linkedHMM predict
1103O-linkedHMM predict
1104O-linkedHMM predict
1105O-linkedHMM predict
1111O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001943
  • Location:chr18 27332169-27380753
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 293TGSE20725 27331525 27332758 1233 28
hScc1 BcellGSE12603 27331729 27332517 788 47
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 27389853 27390187 334 9267
CTCF CD4SISSRdata 27389853 27390187 334 9267
CTCF G2GSE9613 27389728 27390204 476 9213
CTCF G2GSE9613 27391494 27391637 143 10812
Oct1 H2O2-HelaGSE14283 27383834 27383864 30 3096
Oct1 HelaGSE14283 27383836 27383864 28 3097
Rb shRbSenescenceGSE19898 27389998 27390222 224 9357
hScc1 BcellGSE12603 27389691 27390416 725 9300
hScc1 CdLSGSE12603 27389630 27390735 1105 9429
hScc1 G2GSE9613 27389592 27390312 720 9199
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 27333074 27333787 713 0
TFAP2C MCF7GSE21234 27332252 27332736 484 0
USF2 HepG2E 27346011 27346572 561 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7b hsa-let-7b 22 18668040
hsa-let-7b* hsa-let-7b 22 18668040
hsa-miR-1 hsa-mir-1-2 18 18668040
hsa-miR-1 hsa-mir-1-1 20 18668040
hsa-miR-155 hsa-mir-155 21 18668040
hsa-miR-155* hsa-mir-155 21 18668040
hsa-miR-16 hsa-mir-16-1 13 18668040
hsa-miR-16 hsa-mir-16-2 3 18668040
hsa-miR-30a hsa-mir-30a 6 18668040
hsa-miR-30a* hsa-mir-30a 6 18668040
hsa-miR-30b hsa-mir-30b 8 18668040
hsa-miR-30b* hsa-mir-30b 8 18668040
hsa-miR-30c hsa-mir-30c-2 6 18668040
hsa-miR-30c hsa-mir-30c-1 1 18668040
hsa-miR-30c-1* hsa-mir-30c-1 1 18668040
hsa-miR-30c-2* hsa-mir-30c-2 6 18668040
hsa-miR-30d hsa-mir-30d 8 18668040
hsa-miR-30d* hsa-mir-30d 8 18668040
hsa-miR-30e hsa-mir-30e 1 18668040
hsa-miR-30e* hsa-mir-30e 1 18668040
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
956 Unknown pSILAC miR-155 DSG2 down 75-50% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000046604 n_a n_a n_a muscle cell "benign tumour, malignant tumour, carcinoma"
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
12042 mRNA DSG2 chr18 27332202 27380855 171 mRNA chr18 27376108 27390872Sense/Antisense (SA) pairs

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