AutismKB 2.0

Annotation Detail for GIT2


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Basic Information Top
Gene Symbol:GIT2 ( CAT-2,CAT2,DKFZp686G01261,KIAA0148,MGC760 )
Gene Full Name: G protein-coupled receptor kinase interacting ArfGAP 2
Band: 12q24.11
Quick LinksEntrez ID:9815; OMIM: 608564; Uniprot ID:GIT2_HUMAN; ENSEMBL ID: ENSG00000139436; HGNC ID: 4273
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
394Phosphoserine.
397Phosphoserine.
401Phosphothreonine (By similarity).
415Phosphoserine.
418Phosphoserine.
421Phosphoserine.
484Phosphotyrosine.
488Phosphothreonine.
492Phosphotyrosine.
496Phosphoserine.
559Phosphoserine.
586Phosphoserine (By similarity).
614Phosphoserine.
Location(AA) Modifications Resource
394Phosphoserine.Swiss-Prot 53.0
397Phosphoserine.Swiss-Prot 53.0
401Phosphothreonine (By similarity).Swiss-Prot 53.0
415Phosphoserine.Swiss-Prot 53.0
418Phosphoserine.Swiss-Prot 53.0
421Phosphoserine.Swiss-Prot 53.0
484Phosphotyrosine.Swiss-Prot 53.0
484PhosphotyrosinePhospho.ELM 6.0
488PhosphothreoninePhospho.ELM 6.0
488Phosphothreonine.Swiss-Prot 53.0
492Phosphotyrosine.Swiss-Prot 53.0
492PhosphotyrosinePhospho.ELM 6.0
496Phosphoserine.Swiss-Prot 53.0
496PhosphoserinePhospho.ELM 6.0
586Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
46Phosphoserine(ATM)HMM predict
54Phosphothreonine(CDC2)HMM predict
140Phosphoserine(ATM)HMM predict
154Phosphoserine(CAMK2)HMM predict
169Phosphothreonine(MAPK)HMM predict
175Phosphoserine(CAMK2)HMM predict
272Phosphoserine(PKA)HMM predict
286Phosphotyrosine(Syk)HMM predict
294Phosphothreonine(PKA)HMM predict
303N-linkedHMM predict
324Phosphoserine(CK1)HMM predict
363Phosphoserine(ATM)HMM predict
392Phosphotyrosine(INSR)HMM predict
392Phosphotyrosine(Syk)HMM predict
392SulfotyrosineHMM predict
397Phosphoserine(CK2)HMM predict
467Phosphothreonine(PKC)HMM predict
484Phosphotyrosine(SRC)HMM predict
492Phosphotyrosine(INSR)HMM predict
497N-linkedHMM predict
514Phosphoserine(IKK)HMM predict
525Phosphotyrosine(Jak)HMM predict
525Phosphotyrosine(Syk)HMM predict
555O-linkedHMM predict
555Phosphothreonine(PKC)HMM predict
556O-linkedHMM predict
562Phosphoserine(IKK)HMM predict
562O-linkedHMM predict
579Phosphoserine(PKG)HMM predict
585N-linkedHMM predict
586Phosphoserine(IKK)HMM predict
587Phosphothreonine(MAPK)HMM predict
592SulfotyrosineHMM predict
592Phosphotyrosine(Syk)HMM predict
608MethylarginineHMM predict
634O-linkedHMM predict
636Phosphothreonine(PKC)HMM predict
669Phosphotyrosine(Jak)HMM predict
724Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014776
  • Location:chr12 108851991-108918482
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 108849851 108850145 294 1994
CTCF CD4SISSRdata 108849851 108850145 294 1994
CTCF HelaGSE12889 108849853 108850058 205 2036
CTCF G2GSE9613 108847332 108847708 376 4472
CTCF G2GSE9613 108850450 108850714 264 1410
hScc1 BcellGSE12603 108847404 108847999 595 4290
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 108856217 108856619 402 0
ER E2-MCF7GSE14664 108854330 108854362 32 0
FOXA1 DLD1GSE12801 108862484 108862743 259 0
KLF4 hESGSE17917 108867307 108867492 185 0
Oct1 H2O2-HelaGSE14283 108867087 108867114 27 0
hScc1 CdLSGSE12603 108856217 108856619 402 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
6598 mRNA MGC10854 chr12 108800798 108853794 305 mRNA GIT2 chr12 108830328 108896820Sense/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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