Tissue expression of GJB4 - Summary - The Human Protein Atlas

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GJB4

TISSUE

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CELL

PATHOLOGY

TISSUE ATLAS

GENE/PROTEIN

Dictionary


Tissue proteome

GENERAL INFORMATION
Gene name	GJB4
Gene description	Gap junction protein, beta 4, 30.3kDa
Protein class	Disease related genes Predicted membrane proteins
Predicted localization	Membrane
Number of transcripts	1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Tissue enriched (skin)
GTEx:	Tissue enriched (skin)
FANTOM5:	Tissue enhanced (epididymis, gallbladder)

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

N/A

Caudate

N/A

N/A

Cerebellum

N/A

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

N/A

Bronchus

N/A

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

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

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

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 enriched (skin)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (skin)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (epididymis, gallbladder)

GENE INFORMATION
Gene name	GJB4 (HGNC Symbol)
Synonyms	CX30.3
Description	Gap junction protein, beta 4, 30.3kDa (HGNC Symbol)
Entrez gene summary	This gene encodes a transmembrane connexin protein that is a component of gap junctions. Mutations in this gene have been associated with erythrokeratodermia variabilis, progressive symmetric erythrokeratoderma and hearing impairment. [provided by RefSeq, Dec 2009]
Chromosome	1
Cytoband	p34.3
Chromosome location (bp)	34759741 - 34763724
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000189433 (version 83.38)
Entrez gene	127534
UniProt	Q9NTQ9 (UniProt - Evidence at protein level)
neXtProt	NX_Q9NTQ9
Antibodypedia	GJB4 antibodies

PROTEIN BROWSER

GJB4-001

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
GJB4-001 ENSP00000345868 ENST00000339480	Q9NTQ9 [Direct mapping] Gap junction beta-4 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:0005922 [connexon complex] GO:0007154 [cell communication] GO:0007608 [sensory perception of smell] GO:0016021 [integral component of membrane] GO:0042048 [olfactory behavior] Show all	266 aa 30.4 kDa	No	4

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

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