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GJA3

GENERAL INFORMATION

Gene name

 GJA3

Gene description

 Gap junction protein, alpha 3, 46kDa

Protein class

 Disease related genes
Potential drug targets
Predicted membrane proteins
Transporters

Predicted localization

 Membrane

Number of transcripts

 1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enhanced (parathyroid gland, heart muscle, placenta)
GTEx:Tissue enhanced (heart muscle, testis)
FANTOM5:Group enriched (heart muscle, testis)

Protein evidence

 Evidence at protein level

Protein expression

 Expression in lens.

DATA RELIABILITY

Data reliability
description

 Presumed off target binding observed and disregarded. External characterization data supports antibody staining but no internal RNA data available for correlation.

Reliability score

 Supported based on 1 antibody.
HPA014821
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Eye
N/A
Eye
N/A
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Eye

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (parathyroid gland, heart muscle, placenta)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (heart muscle, testis)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (heart muscle, testis)

GENE INFORMATION

Gene name

 GJA3 (HGNC Symbol)

Synonyms

 CX46, CZP3

Description

 Gap junction protein, alpha 3, 46kDa (HGNC Symbol)

Entrez gene summary

 The protein encoded by this gene is a connexin and is a component of lens fiber gap junctions. Defects in this gene are a cause of zonular pulverulent cataract type 3 (CZP3). [provided by RefSeq, Jan 2010]

Chromosome

 13

Cytoband

 q12.11

Chromosome location (bp)

 20138255 - 20161049

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000121743 (version 83.38)

Entrez gene

 2700

UniProt

 Q9Y6H8 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9Y6H8

Antibodypedia

 GJA3 antibodies

PROTEIN BROWSER
GJA3-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
GJA3-001
ENSP00000241125
ENST00000241125
Q9Y6H8 [Direct mapping]
Gap junction alpha-3 protein
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Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   3TM proteins predicted by MDM
Disease related genes
Potential drug targets
Show all
GO:0005243 [gap junction channel activity]
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0005921 [gap junction]
GO:0005922 [connexon complex]
GO:0006810 [transport]
GO:0007154 [cell communication]
GO:0007267 [cell-cell signaling]
GO:0007601 [visual perception]
GO:0009268 [response to pH]
GO:0016021 [integral component of membrane]
GO:0042542 [response to hydrogen peroxide]
GO:0042802 [identical protein binding]
GO:0045121 [membrane raft]
GO:0055085 [transmembrane transport]
Show all
 435 aa
47.4 kDa 		No 3

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.