AutismKB 2.0

Annotation Detail for ADD2


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Basic Information Top
Gene Symbol:ADD2 ( ADDB )
Gene Full Name: adducin 2 (beta)
Band: 2p13.3
Quick LinksEntrez ID:119; OMIM: 102681; Uniprot ID:ADDB_HUMAN; ENSEMBL ID: ENSG00000075340; HGNC ID: 244
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylserine (By similarity).
55Phosphothreonine; by PKA.
532Phosphoserine (By similarity).
535Phosphoserine (By similarity).
592Phosphoserine.
596Phosphoserine.
600Phosphoserine.
604Phosphoserine.
688Phosphothreonine (By similarity).
693Phosphoserine.
697Phosphoserine.
699Phosphoserine.
703Phosphoserine; by PKC.
713Phosphoserine; by PKA and PKC.
Location(AA) Modifications Resource
2N-acetylserine (By similarity).Swiss-Prot 53.0
54Phosphothreonine (PKA
55Phosphothreonine (by PKA).Swiss-Prot 53.0
532Phosphoserine (By similarity).Swiss-Prot 53.0
535Phosphoserine (By similarity).Swiss-Prot 53.0
592Phosphoserine (By similarity).Swiss-Prot 53.0
600Phosphoserine (By similarity).Swiss-Prot 53.0
688Phosphothreonine (By similarity).Swiss-Prot 53.0
702Phosphoserine (PKC alpha)Phospho.ELM 6.0
703Phosphoserine (by PKC).Swiss-Prot 53.0
712Phosphoserine (PKC alpha;PK)Phospho.ELM 6.0
713Phosphoserine (by PKA and PKC).Swiss-Prot 53.0
725Phosphoserine (PKA
Location(AA) Modification Resource
11Phosphoserine(IKK)HMM predict
11O-linkedHMM predict
11Phosphoserine(CDC2)HMM predict
31Phosphotyrosine(INSR)HMM predict
55Phosphothreonine(PKA)HMM predict
55Phosphothreonine(PKA)HMM predict
79N-linkedHMM predict
80N-linkedHMM predict
83N-linkedHMM predict
156Phosphotyrosine(Jak)HMM predict
452Phosphoserine(IKK)HMM predict
455Phosphoserine(CDC2)HMM predict
455Phosphoserine(CDK)HMM predict
471Phosphoserine(IKK)HMM predict
489Phosphotyrosine(Abl)HMM predict
530Phosphoserine(CDC2)HMM predict
532Phosphoserine(CK1)HMM predict
532Phosphoserine(IKK)HMM predict
545Phosphothreonine(CK2)HMM predict
568Phosphotyrosine(INSR)HMM predict
592Phosphoserine(CDC2)HMM predict
592Phosphoserine(IKK)HMM predict
592PhosphoserineHMM predict
596O-linkedHMM predict
600Phosphoserine(MAPK)HMM predict
600O-linkedHMM predict
600PhosphoserineHMM predict
600Phosphoserine(CDC2)HMM predict
600Phosphoserine(IKK)HMM predict
600Phosphoserine(CDK)HMM predict
604Phosphoserine(CDC2)HMM predict
613Phosphoserine(CDC2)HMM predict
617Phosphoserine(CDK)HMM predict
617Phosphoserine(CDC2)HMM predict
621Phosphoserine(CK1)HMM predict
632O-linkedHMM predict
636O-linkedHMM predict
657Phosphothreonine(CK2)HMM predict
663Phosphoserine(CK1)HMM predict
689O-linkedHMM predict
693Phosphoserine(IKK)HMM predict
693O-linkedHMM predict
693Phosphoserine(CDC2)HMM predict
693Phosphoserine(CDK)HMM predict
697PhosphoserineHMM predict
697Phosphoserine(CDC2)HMM predict
699O-linkedHMM predict
701Phosphoserine(CDK)HMM predict
701Phosphoserine(CDC2)HMM predict
703Phosphoserine(PKC)HMM predict
713Phosphoserine(PKC)HMM predict
713Phosphoserine(PKA)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001617
  • Location:chr2 70742771-70848836
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 70728504 70728897 393 14071
CTCF CD4GSE12889 70735845 70736146 301 6776
CTCF CD4SISSRdata 70728504 70728897 393 14071
CTCF CD4SISSRdata 70735845 70736146 301 6776
CTCF HelaGSE12889 70728595 70728945 350 14002
CTCF G2GSE9613 70723898 70724064 166 18791
CTCF G2GSE9613 70724494 70724932 438 18059
CTCF G2GSE9613 70726090 70726798 708 16328
CTCF G2GSE9613 70728386 70728774 388 14192
hScc1 BcellGSE12603 70728422 70728774 352 14174
hScc1 CdLSGSE12603 70728386 70728774 388 14192
hScc1 G2GSE9613 70724494 70724932 438 18059
hScc1 G2GSE9613 70726090 70726588 498 16433
hScc1 G2GSE9613 70728386 70728774 388 14192
hScc1 G2GSE9613 70736096 70736449 353 6499
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 70747189 70747222 33 0
TFAP2C MCF7GSE21234 70750867 70751370 503 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


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