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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	57369
Gene name	Gap junction protein delta 2
Gene symbol	GJD2
Synonyms (NCBI Gene)	CX36GJA9
Chromosome	15
Chromosome location	15q14
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 p

158

Show/Hide all (158)

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

Show/Hide all (1)

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

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL LEFT-SIDED HEART LESIONS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROPIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (34)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Ametropia	Ametropia	CTD_human_DG	20835239		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	29246791, 30546295		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	Pubtator	35885949	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	31956659	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21406965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21406965	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30412665		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30412665		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	19000992	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	19000992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	25438677	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28729916, 29246791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	28604388		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	Pubtator	35885949	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothalamic hamartomas	Hypothalamic Hamartomas	BEFREE	27428422		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	17163532		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	LHGDN	15235036, 16876983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	16876983, 23756480, 28636645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	19530241	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	31415580	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	17163532		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	30546295		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	22509107, 27611182, 29793445, 31415580, 34406332, 35594404, 36395078	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	CTD_human_DG	23396134		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	BEFREE	25587058, 25823570, 29793445, 31283648		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia Degenerative	Myopia	Pubtator	27611182	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia, Degenerative	Myopia	BEFREE	23834555		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29246791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	37082886	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	25124148	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	17427027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia, Catatonic	Schizophrenia	BEFREE	12363395		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	26485405, 31415580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	29476948, 30056318		★★★★★ ★☆☆☆☆ Found in Text Mining only

GJD2 (gap junction protein delta 2)