Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	57369
Gene name Gene Name - the full gene name approved by the HGNC.	Gap junction protein delta 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GJD2
Synonyms (NCBI Gene) Gene synonyms aliases	CX36, GJA9
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q14
Summary Summary of gene provided in NCBI Entrez Gene.	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 p

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miRTarBase ID	miRNA	Experiments	Reference
MIRT712836	hsa-miR-34a-3p	HITS-CLIP	19536157
MIRT712835	hsa-miR-382-3p	HITS-CLIP	19536157
MIRT712834	hsa-miR-1825	HITS-CLIP	19536157
MIRT706552	hsa-miR-6514-5p	HITS-CLIP	22927820
MIRT706551	hsa-miR-143-3p	HITS-CLIP	22927820
MIRT706549	hsa-miR-4770	HITS-CLIP	22927820
MIRT706550	hsa-miR-6088	HITS-CLIP	22927820
MIRT706548	hsa-miR-4708-5p	HITS-CLIP	22927820
MIRT706547	hsa-miR-1273f	HITS-CLIP	22927820
MIRT706546	hsa-miR-4534	HITS-CLIP	22927820
MIRT706545	hsa-miR-8082	HITS-CLIP	22927820
MIRT706544	hsa-miR-1289	HITS-CLIP	22927820
MIRT706543	hsa-miR-4294	HITS-CLIP	22927820
MIRT706542	hsa-miR-3198	HITS-CLIP	22927820
MIRT706541	hsa-miR-4309	HITS-CLIP	22927820
MIRT706540	hsa-miR-8055	HITS-CLIP	22927820
MIRT706539	hsa-miR-129-5p	HITS-CLIP	22927820
MIRT657870	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT657869	hsa-miR-651-3p	HITS-CLIP	23824327
MIRT657867	hsa-miR-1323	HITS-CLIP	23824327
MIRT657866	hsa-miR-548o-3p	HITS-CLIP	23824327
MIRT657865	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT616973	hsa-miR-4521	HITS-CLIP	23824327
MIRT657864	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT657862	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT657863	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT668131	hsa-miR-4786-3p	HITS-CLIP	23824327
MIRT657861	hsa-miR-4480	HITS-CLIP	23824327
MIRT657860	hsa-miR-671-5p	HITS-CLIP	23824327
MIRT657859	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT657858	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT657857	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT609582	hsa-miR-8485	HITS-CLIP	23824327
MIRT609581	hsa-miR-101-5p	HITS-CLIP	23824327
MIRT657870	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT657869	hsa-miR-651-3p	HITS-CLIP	23824327
MIRT657868	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT657867	hsa-miR-1323	HITS-CLIP	23824327
MIRT657866	hsa-miR-548o-3p	HITS-CLIP	23824327
MIRT657865	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT616973	hsa-miR-4521	HITS-CLIP	23824327
MIRT657864	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT657862	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT657863	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT657861	hsa-miR-4480	HITS-CLIP	23824327
MIRT657860	hsa-miR-671-5p	HITS-CLIP	23824327
MIRT657859	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT657858	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT657857	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT609582	hsa-miR-8485	HITS-CLIP	23824327
MIRT609581	hsa-miR-101-5p	HITS-CLIP	23824327
MIRT609582	hsa-miR-8485	HITS-CLIP	23824327
MIRT609581	hsa-miR-101-5p	HITS-CLIP	23824327
MIRT616973	hsa-miR-4521	HITS-CLIP	23824327
MIRT609582	hsa-miR-8485	HITS-CLIP	23824327
MIRT609581	hsa-miR-101-5p	HITS-CLIP	23824327
MIRT616976	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT616977	hsa-miR-506-3p	HITS-CLIP	23824327
MIRT616976	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT616975	hsa-miR-3714	HITS-CLIP	23824327
MIRT616974	hsa-miR-3910	HITS-CLIP	23824327
MIRT609582	hsa-miR-8485	HITS-CLIP	23824327
MIRT609581	hsa-miR-101-5p	HITS-CLIP	23824327
MIRT616973	hsa-miR-4521	HITS-CLIP	23824327
MIRT609582	hsa-miR-8485	HITS-CLIP	23824327
MIRT609581	hsa-miR-101-5p	HITS-CLIP	23824327
MIRT570072	hsa-miR-3137	PAR-CLIP	20371350
MIRT570071	hsa-miR-20b-3p	PAR-CLIP	20371350
MIRT570070	hsa-miR-593-3p	PAR-CLIP	20371350
MIRT570072	hsa-miR-3137	PAR-CLIP	20371350
MIRT570071	hsa-miR-20b-3p	PAR-CLIP	20371350
MIRT570070	hsa-miR-593-3p	PAR-CLIP	20371350
MIRT537146	hsa-miR-508-5p	PAR-CLIP	22012620
MIRT537145	hsa-miR-6849-3p	PAR-CLIP	22012620
MIRT537144	hsa-miR-212-5p	PAR-CLIP	22012620
MIRT537143	hsa-miR-766-3p	PAR-CLIP	22012620
MIRT537142	hsa-miR-1273a	PAR-CLIP	22012620
MIRT537141	hsa-miR-6512-3p	PAR-CLIP	22012620
MIRT537140	hsa-miR-6720-5p	PAR-CLIP	22012620
MIRT712836	hsa-miR-34a-3p	HITS-CLIP	19536157
MIRT712835	hsa-miR-382-3p	HITS-CLIP	19536157
MIRT712834	hsa-miR-1825	HITS-CLIP	19536157
MIRT706552	hsa-miR-6514-5p	HITS-CLIP	22927820
MIRT706551	hsa-miR-143-3p	HITS-CLIP	22927820
MIRT706549	hsa-miR-4770	HITS-CLIP	22927820
MIRT706550	hsa-miR-6088	HITS-CLIP	22927820
MIRT706548	hsa-miR-4708-5p	HITS-CLIP	22927820
MIRT706547	hsa-miR-1273f	HITS-CLIP	22927820
MIRT706546	hsa-miR-4534	HITS-CLIP	22927820
MIRT706545	hsa-miR-8082	HITS-CLIP	22927820
MIRT706544	hsa-miR-1289	HITS-CLIP	22927820
MIRT706543	hsa-miR-4294	HITS-CLIP	22927820
MIRT706542	hsa-miR-3198	HITS-CLIP	22927820
MIRT706541	hsa-miR-4309	HITS-CLIP	22927820
MIRT706540	hsa-miR-8055	HITS-CLIP	22927820
MIRT706539	hsa-miR-129-5p	HITS-CLIP	22927820
MIRT657870	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT657869	hsa-miR-651-3p	HITS-CLIP	23824327
MIRT657867	hsa-miR-1323	HITS-CLIP	23824327
MIRT657866	hsa-miR-548o-3p	HITS-CLIP	23824327
MIRT657865	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT616973	hsa-miR-4521	HITS-CLIP	23824327
MIRT657864	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT657862	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT657863	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT668131	hsa-miR-4786-3p	HITS-CLIP	23824327
MIRT657861	hsa-miR-4480	HITS-CLIP	23824327
MIRT657860	hsa-miR-671-5p	HITS-CLIP	23824327
MIRT657859	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT657858	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT657857	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT609582	hsa-miR-8485	HITS-CLIP	23824327
MIRT609581	hsa-miR-101-5p	HITS-CLIP	23824327
MIRT657870	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT657869	hsa-miR-651-3p	HITS-CLIP	23824327
MIRT657868	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT657867	hsa-miR-1323	HITS-CLIP	23824327
MIRT657866	hsa-miR-548o-3p	HITS-CLIP	23824327
MIRT657865	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT616973	hsa-miR-4521	HITS-CLIP	23824327
MIRT657864	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT657862	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT657863	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT657861	hsa-miR-4480	HITS-CLIP	23824327
MIRT657860	hsa-miR-671-5p	HITS-CLIP	23824327
MIRT657859	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT657858	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT657857	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT609582	hsa-miR-8485	HITS-CLIP	23824327
MIRT609581	hsa-miR-101-5p	HITS-CLIP	23824327
MIRT609582	hsa-miR-8485	HITS-CLIP	23824327
MIRT609581	hsa-miR-101-5p	HITS-CLIP	23824327
MIRT616973	hsa-miR-4521	HITS-CLIP	23824327
MIRT609582	hsa-miR-8485	HITS-CLIP	23824327
MIRT609581	hsa-miR-101-5p	HITS-CLIP	23824327
MIRT616976	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT616977	hsa-miR-506-3p	HITS-CLIP	23824327
MIRT616976	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT616975	hsa-miR-3714	HITS-CLIP	23824327
MIRT616974	hsa-miR-3910	HITS-CLIP	23824327
MIRT609582	hsa-miR-8485	HITS-CLIP	23824327
MIRT609581	hsa-miR-101-5p	HITS-CLIP	23824327
MIRT616973	hsa-miR-4521	HITS-CLIP	23824327
MIRT609582	hsa-miR-8485	HITS-CLIP	23824327
MIRT609581	hsa-miR-101-5p	HITS-CLIP	23824327
MIRT570072	hsa-miR-3137	PAR-CLIP	20371350
MIRT570071	hsa-miR-20b-3p	PAR-CLIP	20371350
MIRT570070	hsa-miR-593-3p	PAR-CLIP	20371350
MIRT570072	hsa-miR-3137	PAR-CLIP	20371350
MIRT570071	hsa-miR-20b-3p	PAR-CLIP	20371350
MIRT570070	hsa-miR-593-3p	PAR-CLIP	20371350
MIRT537146	hsa-miR-508-5p	PAR-CLIP	22012620
MIRT537145	hsa-miR-6849-3p	PAR-CLIP	22012620
MIRT537144	hsa-miR-212-5p	PAR-CLIP	22012620
MIRT537143	hsa-miR-766-3p	PAR-CLIP	22012620
MIRT537142	hsa-miR-1273a	PAR-CLIP	22012620
MIRT537141	hsa-miR-6512-3p	PAR-CLIP	22012620
MIRT537140	hsa-miR-6720-5p	PAR-CLIP	22012620

Transcription factors

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Transcription factor	Regulation	Reference
REST	Repression	14565956

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence
GO:0005243	Function	Gap junction channel activity	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005921	Component	Gap junction	IEA
GO:0005922	Component	Connexin complex	IBA
GO:0005922	Component	Connexin complex	IEA
GO:0007154	Process	Cell communication	IEA
GO:0007267	Process	Cell-cell signaling	IBA
GO:0007267	Process	Cell-cell signaling	IEA
GO:0007267	Process	Cell-cell signaling	IEA
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007601	Process	Visual perception	IEA
GO:0016020	Component	Membrane	IEA
GO:0019228	Process	Neuronal action potential	IEA
GO:0045202	Component	Synapse	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070161	Component	Anchoring junction	IEA

MIM	HGNC	e!Ensembl
607058	19154	ENSG00000159248

Protein

UniProt ID

Q9UKL4

Protein name

Gap junction delta-2 protein (Connexin-36) (Cx36) (Gap junction alpha-9 protein)

Protein function

One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.

PDB

2N6A , 7XKI , 7XKK , 7XKT , 7XL8 , 7XNH , 7XNV , 8HKP , 8IYG , 8QOJ , 8R7P , 8R7Q , 8R7R , 8XGD , 8XGE , 8XGF , 8XGG , 8XGJ , 8XH8 , 8XH9

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00029	Connexin	3 → 277	Connexin	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in neurons.

Sequence

MGEWTILERLLEAAVQQHSTMIGRILLTVVVIFRILIVAIVGETVYDDEQTMFVCNTLQP
GCNQACYDRAFPISHIRYWVFQIIMVCTPSLCFITYSVHQSAKQRERRYSTVFLALDRDP
PESIGGPGGTGGGGSGGGKREDKKLQNAIVNGVLQNTENTSKETEPDCLEVKELTPHPSG
LRTASKSKLRRQEGISRFYIIQVVFRNALEIGFLVGQYFLYGFSVPGLYECNRYPCIKEV
ECYVSRPTEKTVFLVFMFAVSGICVVLNLAELNHLGWRKIKLAVRGAQAKRKSIYEIRNK
DLPRVSVPNFGRTQSSDSAYV

Sequence length

321

Interactions

View interactions

	KEGG		Reactome
	Gap junction		Electric Transmission Across Gap Junctions Gap junction assembly

Show/Hide Unknown Diseases (5)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Hyperopia	Hyperopia	N/A	N/A	GWAS
Myopia	Myopia	N/A	N/A	GWAS
Prostate cancer	Prostate cancer (SNP x SNP interaction)	N/A	N/A	GWAS
Schizophrenia	Schizophrenia	N/A	N/A	GWAS
Stress Disorder	Post-traumatic stress disorder	N/A	N/A	GWAS

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	37082886
Astigmatism	Associate	35885949
Carcinoma Pancreatic Ductal	Associate	31956659
Colorectal Neoplasms	Associate	21406965
Diabetes Mellitus Type 2	Associate	19000992
Encephalitis	Associate	25438677
Hyperopia	Associate	35885949
Hypothalamic hamartomas	Associate	27428422
Lymphoma Follicular	Associate	19530241
Macular Degeneration	Associate	31415580
Myopia	Associate	22509107, 27611182, 29793445, 31415580, 34406332, 35594404, 36395078
Myopia Degenerative	Associate	27611182
Oculocerebrorenal Syndrome	Associate	37082886
Parkinson Disease	Associate	25124148
Refractive Errors	Associate	34406332, 35220419, 35885949

GJD2 (gap junction protein delta 2)