Annotation Detail for GNB4

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Basic Information Top

Gene Symbol:	GNB4 ( - )
Gene Full Name:	guanine nucleotide binding protein (G protein), beta polypeptide 4
Band:	3q26.33
Quick Links	Entrez ID:59345; OMIM: 610863; Uniprot ID:GBB4_HUMAN; ENSEMBL ID: ENSG00000114450; HGNC ID: 20731
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:1 results
Experimental PTM Sites from dbPTM:1 results
Predicted PTM Sites by profile HMM from dbPTM:7 results

Location(AA)	Modification
2	N-acetylserine.

Location(AA)	Modification	Resource
50	Phosphothreonine(PKA)	HMM predict
74	Phosphoserine(ATM)	HMM predict
136	O-linked	HMM predict
159	O-linked	HMM predict
178	O-linked	HMM predict
179	O-linked	HMM predict
193	Phosphoserine(CDC2)	HMM predict

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

RefSeq ID: NM_021629
Location:chr3 180599695-180652064
strand:-

Upstream the gene:4 results
Downstream the gene:0 results
Inside the gene:10 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	180664808	180664989	181	12834
RARA	MCF7	GSE15244	180665025	180665766	741	13331
RARG	MCF7	GSE15244	180664808	180665389	581	13034
TFAP2C	MCF7	GSE21234	180664783	180665616	833	13135

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	180647109	180648062	953	0
CTCF	G2	GSE9613	180651599	180652144	545	0
H3K4me3	colorectal	cancer	180650472	180650839	367	0
Myc	K562	GSE19551	180637105	180637286	181	0
RARA	MCF7	GSE15244	180624300	180624516	216	0
RARG	MCF7	GSE15244	180624300	180624516	216	0
TFAP2C	MCF7	GSE21234	180641605	180642040	435	0
hScc1	Bcell	GSE12603	180651520	180652268	748	0
hScc1	CdLS	GSE12603	180651520	180652144	624	0
hScc1	G2	GSE9613	180651520	180652033	513	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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