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
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

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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

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Transcription factor	Regulation	Reference
REST	Repression	14565956

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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

GJD2 (gap junction protein delta 2)