Annotation Detail for CA3

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Basic Information Top

Gene Symbol:	CA3 ( CAIII,Car3 )
Gene Full Name:	carbonic anhydrase III, muscle specific
Band:	8q21.2
Quick Links	Entrez ID:761; OMIM: 114750; Uniprot ID:CAH3_HUMAN; ENSEMBL ID: ENSG00000164879; HGNC ID: 1374
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:0 results
Predicted PTM Sites by profile HMM from dbPTM:4 results

Location(AA)	Modification
182	S-glutathionyl cysteine (By similarity).
187	S-glutathionyl cysteine (By similarity).

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

RefSeq ID: NM_005181
Location:chr8 86537709-86548525
strand:+

Upstream the gene:2 results
Downstream the gene:3 results
Inside the gene:2 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
Oct1	H2O2-Hela	GSE14283	86524375	86524412	37	13316
Oct1	Hela	GSE14283	86524365	86524422	57	13316

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	CD4	GSE12889	86551038	86551459	421	2723
CTCF	CD4	SISSRdata	86551038	86551459	421	2723
CTCF	G2	GSE9613	86551016	86551390	374	2678

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
Oct1	Hela	GSE14283	86543240	86543271	31	0
Oct1	Hela	GSE14283	86548240	86548275	35	0

Validated miRNA targets

miR Walk:4 results
Tarbase V5.0:0 results

Micro RNA Name	Stem Loop Name	The chromosome that miRNA located	Publication
hsa-miR-21	hsa-mir-21	17	21162128
hsa-miR-21	hsa-mir-21	17	21154462
hsa-miR-21*	hsa-mir-21	17	21162128
hsa-miR-21*	hsa-mir-21	17	21154462

Cis-Nats regulation

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
25658	mRNA	CA3	chr8	86537709	86548526	119	EST		chr8	86541369	86562280	Sense/Antisense (SA) pairs

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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