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GJD2

GENERAL INFORMATION

Gene name

 GJD2

Gene description

 Gap junction protein, delta 2, 36kDa

Protein class

 Predicted membrane proteins

Predicted localization

 Membrane

Number of transcripts

 1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Group enriched (adrenal gland, cerebral cortex)
GTEx:Tissue enriched (pituitary gland)
FANTOM5:Tissue enhanced (pituitary gland, retina)

Protein evidence

 Evidence at protein level

Protein expression

 Estimation of protein expression could not be performed. View primary data.

DATA RELIABILITY

Data reliability
description

 RNA-based expert annotation gave inconclusive results. Pending external verification.

Reliability score

 Uncertain based on 1 antibody.
HPA014355
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
N/A
Hippocampus
N/A
N/A
Caudate
N/A
N/A
Cerebellum
N/A
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Appendix
N/A
Tonsil
N/A
Spleen
N/A
Muscle tissues
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
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Oral mucosa
N/A
N/A
Esophagus
N/A
Stomach
N/A
Duodenum
N/A
Colon
N/A
Rectum
N/A
Kidney & urinary bladder
N/A
Kidney
N/A
Male tissues
N/A
Testis
N/A
Prostate
N/A
Female tissues
N/A
Breast
N/A
Vagina
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Soft tissue
N/A
N/A
Skin
N/A
Skin
N/A
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
RNA-based expert annotation could not be performed, due to inconclusive results. View immunohistochemistry primary data.

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (adrenal gland, cerebral cortex)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (pituitary gland)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (pituitary gland, retina)

GENE INFORMATION

Gene name

 GJD2 (HGNC Symbol)

Synonyms

 CX36, GJA9

Description

 Gap junction protein, delta 2, 36kDa (HGNC Symbol)

Entrez gene summary

 This gene encodes a member of the connexin protein family. Connexins are gap junction proteins which are arranged in groups of 6 around a central pore to form a connexon, a component of the gap junction intercellular channel. The channels formed by this protein allow cationic molecule exchange between human beta cells and may function in the regulation of insulin secretion. [provided by RefSeq, Oct 2012]

Chromosome

 15

Cytoband

 q14

Chromosome location (bp)

 34751032 - 34754965

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000159248 (version 83.38)

Entrez gene

 57369

UniProt

 Q9UKL4 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9UKL4

Antibodypedia

 GJD2 antibodies

PROTEIN BROWSER
GJD2-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
GJD2-001
ENSP00000290374
ENST00000290374
Q9UKL4 [Direct mapping]
Gap junction delta-2 protein
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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
Protein evidence (Kim et al 2014)
Show all
GO:0001508 [action potential]
GO:0005243 [gap junction channel activity]
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0005922 [connexon complex]
GO:0007154 [cell communication]
GO:0007267 [cell-cell signaling]
GO:0007268 [synaptic transmission]
GO:0007601 [visual perception]
GO:0016021 [integral component of membrane]
GO:0055085 [transmembrane transport]
Show all
 321 aa
36.1 kDa 		No 4

Contact

The Project

The Human Protein Atlas

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