AutismKB 2.0

Annotation Detail for A2M


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:A2M ( CPAMD5,DKFZp779B086,S863-7 )
Gene Full Name: alpha-2-macroglobulin
Band: 12p13.31
Quick LinksEntrez ID:2; OMIM: 103950; Uniprot ID:A2MG_HUMAN; ENSEMBL ID: ENSG00000175899; HGNC ID: 7
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
55N-linked (GlcNAc...).
70N-linked (GlcNAc...).
247N-linked (GlcNAc...).
396N-linked (GlcNAc...).
410N-linked (GlcNAc...).
869N-linked (GlcNAc...).
991N-linked (GlcNAc...).
1424N-linked (GlcNAc...).
Location(AA) Modifications Resource
55N-linked (GlcNAc...).Swiss-Prot 53.0
70N-linked (GlcNAc...).Swiss-Prot 53.0
247N-linked (GlcNAc...).Swiss-Prot 53.0
396N-linked (GlcNAc...).Swiss-Prot 53.0
410N-linked (GlcNAc...).Swiss-Prot 53.0
693Isoglutamyl lysine isopeptide (Gln-Lys)(interchain with K-? in other proteins)(Potential).Swiss-Prot 53.0
694Isoglutamyl lysine isopeptide (Gln-Lys)(interchain with K-? in other proteins)(Potential).Swiss-Prot 53.0
869N-linked (GlcNAc...).Swiss-Prot 53.0
972Isoglutamyl cysteine thioester (Cys-Gln).Swiss-Prot 53.0
991N-linked (GlcNAc...).Swiss-Prot 53.0
1424N-linked (GlcNAc...).Swiss-Prot 53.0
Location(AA) Modification Resource
31Phosphotyrosine(SRC)HMM predict
31Phosphotyrosine(INSR)HMM predict
55N-linkedHMM predict
70N-linkedHMM predict
96Phosphoserine(CK1)HMM predict
96PhosphoserineHMM predict
111Phosphothreonine(PKC)HMM predict
118Phosphothreonine(PKA)HMM predict
119Phosphothreonine(PKA)HMM predict
143Phosphothreonine(PKC)HMM predict
234Phosphothreonine(PKC)HMM predict
247N-linkedHMM predict
341Phosphoserine(CAMK2)HMM predict
396N-linkedHMM predict
410N-linkedHMM predict
413N-linkedHMM predict
453Phosphoserine(CDK)HMM predict
453Phosphoserine(CDK)HMM predict
453Phosphoserine(CDC2)HMM predict
573Phosphoserine(CDC2)HMM predict
573Phosphoserine(CDK)HMM predict
573Phosphoserine(ATM)HMM predict
575Phosphoserine(ATM)HMM predict
593Phosphoserine(IKK)HMM predict
603Phosphoserine(IKK)HMM predict
654O-linkedHMM predict
667Phosphotyrosine(Jak)HMM predict
809Phosphothreonine(PKC)HMM predict
855Phosphothreonine(PKC)HMM predict
861Phosphothreonine(CDK)HMM predict
861Phosphothreonine(MAPK)HMM predict
861Phosphothreonine(CDC2)HMM predict
869N-linkedHMM predict
898Phosphothreonine(PKA)HMM predict
932Phosphoserine(CK1)HMM predict
947Phosphoserine(PKG)HMM predict
991N-linkedHMM predict
997Phosphothreonine(MAPK)HMM predict
1021SulfotyrosineHMM predict
1085Phosphoserine(IKK)HMM predict
1104Phosphotyrosine(INSR)HMM predict
1224O-linkedHMM predict
1225Phosphoserine(IKK)HMM predict
1229O-linkedHMM predict
1272O-linkedHMM predict
1323Phosphotyrosine(Jak)HMM predict
1406O-linkedHMM predict
1424N-linkedHMM predict
1453SulfotyrosineHMM predict
1468SerineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000014
  • Location:chr12 9111570-9159824
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 9171939 9172334 395 12312
ER Fulvestrant-MCF7GSE14664 9168821 9168869 48 9021
FOXA1 MCF7GSE15244 9165925 9166456 531 6366
FOXA1 MCF7GSE15244 9171533 9172256 723 12070
H3ac HepG2E 9159437 9160565 1128 177
Oct1 H2O2-HelaGSE14283 9168445 9168472 27 8634
Oct1 HelaGSE14283 9168442 9168482 40 8638
Oct1 HelaGSE14283 9168728 9168756 28 8918
Oct1 HelaGSE14283 9168822 9168870 48 9022
RARA MCF7GSE15244 9166040 9166420 380 6406
STAT1 HeLaGSE12783 9159434 9160533 1099 159
Stat6 IL-4-hr1GSE17850 9171195 9171746 551 11646
TFAP2C MCF7GSE21234 9175987 9176356 369 16347
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 9127406 9127438 32 0
hScc1 G2GSE9613 9159585 9160009 424 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
5635 mRNA LOC144571 chr12 9109039 9111918 126 mRNA A2M chr12 9111576 9159754Sense/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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