AutismKB 2.0

Annotation Detail for GNAZ


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Basic Information Top
Gene Symbol:GNAZ ( - )
Gene Full Name: guanine nucleotide binding protein (G protein), alpha z polypeptide
Band: 22q11.22-q11.23
Quick LinksEntrez ID:2781; OMIM: 139160; Uniprot ID:GNAZ_HUMAN; ENSEMBL ID: ENSG00000128266; HGNC ID: 4395
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
179ADP-ribosylarginine; by cholera toxin (By
Location(AA) Modifications Resource
2N-myristoyl glycine (By similarity).Swiss-Prot 53.0
3S-palmitoyl cysteine (By similarity).Swiss-Prot 53.0
15Phosphoserine (PAK1;PKC alp)Phospho.ELM 6.0
26Phosphoserine (PKC alpha;PK)Phospho.ELM 6.0
179ADP-ribosylarginine; by cholera toxin (Bysimilarity).Swiss-Prot 53.0
Location(AA) Modification Resource
7PhosphoserineHMM predict
25Phosphoserine(CAMK2)HMM predict
102Phosphotyrosine(Syk)HMM predict
168Phosphotyrosine(Jak)HMM predict
236Phosphotyrosine(INSR)HMM predict
239N-linkedHMM predict
253Phosphoserine(IKK)HMM predict
297Phosphotyrosine(INSR)HMM predict
297Phosphotyrosine(SRC)HMM predict
297Phosphotyrosine(Syk)HMM predict
328O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002073
  • Location:chr22 21742668-21797220
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 21791888 21792028 140 0
CTCF CD4SISSRdata 21791888 21792028 140 0
CTCF JurkatGSE12889 21791847 21792056 209 0
CTCF G2GSE9613 21750173 21750672 499 0
CTCF G2GSE9613 21767440 21768006 566 0
CTCF G2GSE9613 21790779 21791059 280 0
H3ac HepG2E 21743305 21744740 1435 0
H3ac HepG2E 21745411 21746658 1247 0
Myc K562GSE19551 21758785 21759731 946 0
hScc1 BcellGSE12603 21767440 21768070 630 0
hScc1 BcellGSE12603 21780161 21780551 390 0
hScc1 BcellGSE12603 21783155 21784122 967 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
17233 mRNA GNAZ chr22 21737222 21791775 274 EST chr22 21790967 21800815Sense/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