Annotation Detail for CRYBA2

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Basic Information Top

Gene Symbol:	CRYBA2 ( - )
Gene Full Name:	crystallin, beta A2
Band:	2q35
Quick Links	Entrez ID:1412; OMIM: 600836; Uniprot ID:CRBA2_HUMAN; ENSEMBL ID: ENSG00000163499; HGNC ID: 2395
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:0 results
Experimental PTM Sites from dbPTM:1 results
Predicted PTM Sites by profile HMM from dbPTM:2 results

No data

Location(AA)	Modification	Resource
78	C-linked	HMM predict
104	N-linked	HMM predict

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

RefSeq ID: NM_005209
Location:chr2 219563155-219566364
strand:-

Upstream the gene:0 results
Downstream the gene:1 results
Inside the gene:6 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
H3K27me3	colorectal	cancer	219561432	219562426	994	1227

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
H3K27me3	colorectal	cancer	219562974	219565609	2635	0
NRSF	Jurkat	GSE13047	219564558	219565262	704	0
NRSF	mAb	Jurkat	219563659	219565298	1639	0
NRSF-mono	Jurkat	QuESTdata	219564557	219565247	690	0
NRSF-poly	Jurkat	QuESTdata	219564477	219565185	708	0
hScc1	Bcell	GSE12603	219565996	219566712	716	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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