Tissue expression of GJA8 - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	GJA8
Gene description	Gap junction protein, alpha 8, 50kDa
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 enriched (testis)
GTEx:	Tissue enriched (testis)
FANTOM5:	Tissue enriched (testis)

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 enriched (testis)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (testis)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (testis)

GENE INFORMATION
Gene name	GJA8 (HGNC Symbol)
Synonyms	CAE, CAE1, CX50, CZP1
Description	Gap junction protein, alpha 8, 50kDa (HGNC Symbol)
Entrez gene summary	This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner. Mutations in this gene have been associated with zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome. [provided by RefSeq, Dec 2009]
Chromosome	1
Cytoband	q21.2
Chromosome location (bp)	147907956 - 147909257
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000121634 (version 83.38)
Entrez gene	2703
UniProt	P48165 (UniProt - Evidence at protein level)
neXtProt	NX_P48165
Antibodypedia	GJA8 antibodies

PROTEIN BROWSER

GJA8-001

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
GJA8-001 ENSP00000358238 ENST00000369235	P48165 [Direct mapping] Gap junction alpha-8 protein X5D7G1 [Target identity:100%; Query identity:100%] Gap junction protein Show all	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 4TM proteins predicted by MDM Disease related genes Potential drug targets Show all	GO:0002088 [lens development in camera-type eye] GO:0005243 [gap junction channel activity] GO:0005515 [protein binding] GO:0005886 [plasma membrane] GO:0005887 [integral component of plasma membrane] GO:0005922 [connexon complex] GO:0006810 [transport] GO:0007154 [cell communication] GO:0007267 [cell-cell signaling] GO:0007601 [visual perception] GO:0015267 [channel activity] GO:0043010 [camera-type eye development] GO:0051260 [protein homooligomerization] GO:0055085 [transmembrane transport] Show all	433 aa 48.2 kDa	No	4