Tissue expression of GJB3 - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	GJB3
Gene description	Gap junction protein, beta 3, 31kDa
Protein class	Disease related genes Predicted membrane proteins
Predicted localization	Membrane
Number of transcripts	2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Tissue enhanced (skin, esophagus)
GTEx:	Tissue enhanced (skin, esophagus)
FANTOM5:	Tissue enhanced (esophagus, tonsil)

Protein evidence

Evidence at protein level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (skin, esophagus)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (skin, esophagus)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (esophagus, tonsil)

GENE INFORMATION
Gene name	GJB3 (HGNC Symbol)
Synonyms	CX31, DFNA2, EKV
Description	Gap junction protein, beta 3, 31kDa (HGNC Symbol)
Entrez gene summary	This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
Chromosome	1
Cytoband	p34.3
Chromosome location (bp)	34781189 - 34786369
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000188910 (version 83.38)
Entrez gene	2707
UniProt	O75712 (UniProt - Evidence at protein level)
neXtProt	NX_O75712
Antibodypedia	GJB3 antibodies

PROTEIN BROWSER

GJB3-001	GJB3-002

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
GJB3-001 ENSP00000362460 ENST00000373362	O75712 [Direct mapping] Gap junction beta-3 protein Show all	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 4TM proteins predicted by MDM Disease related genes Show all	GO:0005243 [gap junction channel activity] GO:0005921 [gap junction] GO:0005922 [connexon complex] GO:0007154 [cell communication] GO:0016021 [integral component of membrane] GO:0055085 [transmembrane transport] Show all	270 aa 30.8 kDa	No	4
GJB3-002 ENSP00000362464 ENST00000373366	O75712 [Direct mapping] Gap junction beta-3 protein Show all	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 4TM proteins predicted by MDM Disease related genes Show all	GO:0001701 [in utero embryonic development] GO:0001890 [placenta development] GO:0005243 [gap junction channel activity] GO:0005515 [protein binding] GO:0005737 [cytoplasm] GO:0005911 [cell-cell junction] GO:0005921 [gap junction] GO:0005922 [connexon complex] GO:0007154 [cell communication] GO:0007605 [sensory perception of sound] GO:0016021 [integral component of membrane] GO:0043588 [skin development] GO:0055085 [transmembrane transport] Show all	270 aa 30.8 kDa	No	4