AutismKB 2.0

Annotation Detail for EMR2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:EMR2 ( CD312,DKFZp781B135 )
Gene Full Name: egf-like module containing, mucin-like, hormone receptor-like 2
Band: 19p13.1
Quick LinksEntrez ID:30817; OMIM: 606100; Uniprot ID:EMR2_HUMAN; ENSEMBL ID: ENSG00000127507; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
41N-linked (GlcNAc...) (Potential).
111N-linked (GlcNAc...) (Potential).
206N-linked (GlcNAc...) (Potential).
298N-linked (GlcNAc...) (Potential).
347N-linked (GlcNAc...) (Potential).
354N-linked (GlcNAc...) (Potential).
456N-linked (GlcNAc...) (Potential).
460N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
41N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
111N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
206N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
298N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
347N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
354N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
456N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
460N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
41N-linkedHMM predict
55O-linkedHMM predict
97Phosphoserine(MAPK)HMM predict
104O-linkedHMM predict
111N-linkedHMM predict
115N-linkedHMM predict
201Phosphoserine(CDC2)HMM predict
201Phosphoserine(CDK)HMM predict
206N-linkedHMM predict
207N-linkedHMM predict
218Phosphoserine(CK1)HMM predict
240S-palmitoylHMM predict
265O-linkedHMM predict
298N-linkedHMM predict
299N-linkedHMM predict
354N-linkedHMM predict
376Phosphothreonine(PKC)HMM predict
400O-linkedHMM predict
456N-linkedHMM predict
460N-linkedHMM predict
566N-linkedHMM predict
630N-linkedHMM predict
635N-linkedHMM predict
640N-linkedHMM predict
652Phosphotyrosine(Abl)HMM predict
658Phosphothreonine(PKC)HMM predict
670Phosphotyrosine(Abl)HMM predict
670Phosphotyrosine(INSR)HMM predict
719Phosphoserine(IKK)HMM predict
743S-palmitoylHMM predict
746S-palmitoylHMM predict
816Phosphothreonine(PKC)HMM predict
816O-linkedHMM predict
817Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_013447
  • Location:chr19 14704204-14750352
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 14758207 14758380 173 7941
CTCF CD4SISSRdata 14758207 14758380 173 7941
CTCF JurkatGSE12889 14758212 14758475 263 7991
CTCF G2GSE9613 14758003 14758539 536 7919
CTCF G2GSE9613 14759147 14759458 311 8950
Fos K562GSE19551 14756982 14757394 412 6836
hScc1 BcellGSE12603 14757294 14757489 195 7039
hScc1 BcellGSE12603 14758003 14758610 607 7954
hScc1 CdLSGSE12603 14758003 14758650 647 7974
hScc1 G2GSE9613 14758003 14758576 573 7937
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 14703426 14703462 36 761
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER Fulvestrant-MCF7GSE14664 14737396 14737448 52 0
Oct1 H2O2-HelaGSE14283 14710234 14710275 41 0
Oct1 H2O2-HelaGSE14283 14736946 14736973 27 0
Oct1 HelaGSE14283 14710224 14710273 49 0
RUNX JurkatGSE17954 14747716 14747782 66 0
Sox2 hESGSE18292 14730813 14731004 191 0
TAF HelaGSE8489 14711083 14711368 285 0
hScc1 BcellGSE12603 14745612 14745966 354 0
Validated miRNA targets Top
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
12805 mRNA ZNF333 chr19 14661880 14705557 1353 mRNA EMR2 chr19 14704204 14750353Sense/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


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