AutismKB 2.0

Annotation Detail for MMRN2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:MMRN2 ( EMILIN3,EndoGlyx-1,FLJ13465 )
Gene Full Name: multimerin 2
Band: 10q23.2
Quick LinksEntrez ID:79812; OMIM: 608925; Uniprot ID:MMRN2_HUMAN; ENSEMBL ID: ENSG00000173269; HGNC ID: 19888
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
205N-linked (GlcNAc...) (Potential).
214N-linked (GlcNAc...) (Potential).
249N-linked (GlcNAc...) (Potential).
261N-linked (GlcNAc...) (Potential).
350N-linked (GlcNAc...) (Potential).
379N-linked (GlcNAc...) (Potential).
439N-linked (GlcNAc...) (Potential).
472N-linked (GlcNAc...) (Potential).
727N-linked (GlcNAc...) (Potential).
765N-linked (GlcNAc...) (Potential).
845N-linked (GlcNAc...).
Location(AA) Modifications Resource
205N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
214N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
249N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
261N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
350N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
379N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
439N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
472N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
727N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
765N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
845N-linked (GlcNAc...).Swiss-Prot 53.0
Location(AA) Modification Resource
21C-linkedHMM predict
25O-linkedHMM predict
28Phosphoserine(CK1)HMM predict
28Phosphoserine(IKK)HMM predict
205N-linkedHMM predict
214N-linkedHMM predict
249N-linkedHMM predict
254Phosphoserine(CK1)HMM predict
327Phosphoserine(CK1)HMM predict
396Phosphotyrosine(INSR)HMM predict
417Phosphoserine(CK2)HMM predict
419Phosphoserine(ATM)HMM predict
439N-linkedHMM predict
472N-linkedHMM predict
561Phosphothreonine(PKC)HMM predict
623Phosphoserine(CK1)HMM predict
626Phosphothreonine(MAPK)HMM predict
836O-linkedHMM predict
841Phosphothreonine(PKC)HMM predict
845N-linkedHMM predict
850N-linkedHMM predict
895Phosphothreonine(CDK)HMM predict
895Phosphothreonine(PKA)HMM predict
899O-linkedHMM predict
904O-linkedHMM predict
904O-linkedHMM predict
946MethionineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_024756
  • Location:chr10 88685575-88707351
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TFAP2C MCF7GSE21234 88683956 88684647 691 1274
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 88689169 88689578 409 0
CTCF CD4SISSRdata 88689169 88689578 409 0
CTCF JurkatGSE12889 88689159 88689518 359 0
Oct1 HelaGSE14283 88695931 88696009 78 0
Oct1 HelaGSE14283 88704629 88704663 34 0
Rb SenescentGSE19898 88689108 88689399 291 0
TFAP2C MCF7GSE21234 88694046 88694472 426 0
VDR GM10855-stimGSE22484 88689011 88689908 897 0
hScc1 BcellGSE12603 88689231 88689506 275 0
hScc1 BcellGSE12603 88692076 88692997 921 0
hScc1 CdLSGSE12603 88689231 88689506 275 0
hScc1 G2GSE9613 88689231 88689506 275 0
Validated miRNA targets Top
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