Annotation Detail for GNB2

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Basic Information Top

Gene Symbol:	GNB2 ( - )
Gene Full Name:	guanine nucleotide binding protein (G protein), beta polypeptide 2
Band:	7q22.1
Quick Links	Entrez ID:2783; OMIM: 139390; Uniprot ID:GBB2_HUMAN; ENSEMBL ID: ENSG00000172354; HGNC ID: 4398
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:2 results
Experimental PTM Sites from dbPTM:1 results
Predicted PTM Sites by profile HMM from dbPTM:3 results

Location(AA)	Modification
2	N-acetylserine.
239	Phosphotyrosine (By similarity).

Validated transcription factor binding site by ChIP-Chip and ChIP-Seq

RefSeq ID: NM_005273
Location:chr7 100109310-100114726
strand:+

Upstream the gene:11 results
Downstream the gene:0 results
Inside the gene:7 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	100109103	100109501	398	9
P300	T30-glioblastoma	GSE21026	100108631	100109859	1228	66
Rb	Senescent	GSE19898	100108946	100109443	497	116
Rb	shRbQuiescent	GSE19898	100109105	100109352	247	82
TFAP2C	MCF7	GSE21234	100108646	100109306	660	335
USF1	HepG2	E	100108711	100109348	637	281
VDR	GM10855-Unstim	GSE22484	100108563	100109921	1358	69
p130	Quiescent	GSE19898	100108880	100109214	334	264
p130	Senescent	GSE19898	100108937	100109328	391	178
p130	shRbQuiescent	GSE19898	100108920	100109617	697	42
p130	shRbSenescent	GSE19898	100108979	100109299	320	172

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	100109809	100110044	235	0
CTCF	G2	GSE9613	100111645	100112530	885	0
CTCF	G2	GSE9613	100112860	100113740	880	0
Oct1	Hela	GSE14283	100113370	100113407	37	0
Rb	Senescent	GSE19898	100110109	100110238	129	0
TFAP2C	MCF7	GSE21234	100110224	100110672	448	0
hScc1	Bcell	GSE12603	100109201	100110077	876	0

Validated miRNA targets

Cis-Nats regulation

Simple Query:

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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