GJD2

Summary

GJD2 (gap junction protein delta 2, HGNC:19154) is a protein-coding gene on chromosome 15q14, encoding Gap junction delta-2 protein (Q9UKL4). 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.

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.

Source: NCBI Gene 57369 — RefSeq curated summary.

At a glance

• GWAS associations: 16
• Clinical variants (ClinVar): 30 total
• MANE Select transcript: NM_020660

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19154
Approved symbol	GJD2
Name	gap junction protein delta 2
Location	15q14
Locus type	gene with protein product
Status	Approved
Aliases	CX36
Ensembl gene	ENSG00000159248
Ensembl biotype	protein_coding
OMIM	607058
Entrez	57369

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000290374

RefSeq mRNA: 1 — MANE Select: NM_020660 NM_020660

CCDS: CCDS10040

Canonical transcript exons

ENST00000290374 — 2 exons

Exon	Start	End
ENSE00001044276	34754418	34754998
ENSE00001099416	34751032	34753372

Expression profiles

Bgee: expression breadth broad, 70 present calls, max score 93.21.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0101 / max 6.7663, expressed in 4 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
149265	0.3090	91
11845	0.0101	4

Top tissues by expression

263 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
islet of Langerhans	UBERON:0000006	93.21	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.35	gold quality
tongue squamous epithelium	UBERON:0006919	84.72	gold quality
diaphragm	UBERON:0001103	84.39	silver quality
triceps brachii	UBERON:0001509	81.34	gold quality
gluteal muscle	UBERON:0002000	81.15	gold quality
type B pancreatic cell	CL:0000169	80.19	gold quality
vastus lateralis	UBERON:0001379	79.94	gold quality
olfactory bulb	UBERON:0002264	79.94	gold quality
hair follicle	UBERON:0002073	79.50	gold quality
quadriceps femoris	UBERON:0001377	79.22	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	78.35	gold quality
deltoid	UBERON:0001476	74.62	silver quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	74.60	gold quality
tibialis anterior	UBERON:0001385	74.51	silver quality
pancreas	UBERON:0001264	73.57	gold quality
vena cava	UBERON:0004087	73.45	gold quality
Brodmann (1909) area 46	UBERON:0006483	73.06	gold quality
mucosa of paranasal sinus	UBERON:0005030	72.86	gold quality
epithelial cell of pancreas	CL:0000083	72.52	gold quality
mucosa of urinary bladder	UBERON:0001259	72.40	gold quality
cervix squamous epithelium	UBERON:0006922	71.75	gold quality
thymus	UBERON:0002370	71.32	gold quality
pituitary gland	UBERON:0000007	70.91	gold quality
layer of synovial tissue	UBERON:0007616	70.69	gold quality
adenohypophysis	UBERON:0002196	70.56	gold quality
cervix epithelium	UBERON:0004801	70.10	gold quality
nipple	UBERON:0002030	70.01	gold quality
ileal mucosa	UBERON:0000331	69.94	silver quality
biceps brachii	UBERON:0001507	69.68	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-CURD-7	yes	347.32
E-ENAD-21	yes	313.81
E-GEOD-100618	yes	20.50
E-GEOD-84465	yes	11.08
E-ANND-3	no	2.29
E-GEOD-86618	no	1.30

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CREM, ESR1, NEUROD1, REST

Literature-anchored findings (GeneRIF, showing 31)

• Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family (PMID:12522556)
• connexin 36 expression is regulated by the transcriptional repressor NRSF/REST (PMID:14565956)
• 35delG mutation of the GJB2 gne is a risk for deafness (PMID:15083701)
• Results of reporter gene analysis of Cx36 expression in transgenic mice suggest that Cx36 has functional roles not only in several types of neurons in the retina and central nervous system but also in excitable cells of the pancreas and adrenal gland. (PMID:15116387)
• significant association between juvenile myoclonic epilepsy and a Polymorphism, Single Nucleotide within exon 2 of CX36. (PMID:15235036)
• Intercellular coupling occurs between neuronal and microglial populations through Cx36 gap junctions; This has important implications for normal neural physiology and microglial responses in neuronopathology in the mammalian CNS. (PMID:16211561)
• The present results provide confirmatory evidence for an allelic and genotypic association of the CX36 gene with juvenile myoclonic epilepsy. (PMID:16876983)
• These data do not suggest that Panx2 or Cx36 could increase the risk of schizophrenia in the Japanese population. (PMID:17427027)
• Beta cells are extensively coupled within pancreatic islets via exchanges of mostly positively charged molecules across Cx36 channels. (PMID:17828386)
• The data show that Cx36 is a native protein of human pancreatic islets, which mediates the coupling of the insulin-producing beta-cells, and contributes to control beta-cell function by modulating gene expression. (PMID:19000992)
• CaMKII and Cx36 were shown to be significantly colocalized in the inferior olive, a brainstem nucleus highly enriched in electrical synapses, indicating physical proximity of these proteins (PMID:19095792)
• ZO-2 may serve to anchor regulatory proteins at gap junctions composed of Cx36. (PMID:19418635)
• Variations in GJD2 is associated with refractive errors and myopia. (PMID:20835239)
• connexin genes Gjd2 coding for mCx36, Gjc1 coding for mCx45 and Gja10 coding for mCx57 in the mouse, a subset of 4 connexin genes, including the unique GJA9 (Cx59) and GJA10 (Cx62), could be detected at least as transcript isoforms in the human retina. (PMID:20979653)
• A polymorphism of Cx36 gene is associated to certain forms of human diabetes (PMID:22288100)
• Cx36 GJs are highly cation-selective and should exhibit relatively low permeability to numerous vital negatively charged metabolites and high permeability to potassium ion, a major charge carrier in cell-cell communication. (PMID:22752717)
• Three SNP alleles in BRD2, Cx-36, and ME2 and microdeletions in 15q13.3, 15q11.2, and 16p13.11 also contribute risk to juvenile myclonic epilepsy. (PMID:23756480)
• In this study, there was no association of the analyzed SNPs located in RASGRF1. GJD2, and ACTC1 with pathological myopia. (PMID:23834555)
• Study shows that human outer retina displays a diverse cohort of connexin 36 gap junctions that follows the general mammalian scheme and display a great functional diversity. (PMID:26173976)
• It was shown that the decreased level of the examined neuronal proteins was accompanied by the impaired coexpression of synaptophysin/neurofilaments and Cx36 in the series of astrocytomas–anaplastic astrocytomas–glioblastomas. (PMID:26226778)
• Genetic variants in ZC3H11B, RSPO1, and GJD2 are associated with susceptibility to the development of high myopia in a Han Chinese population. (PMID:26485405)
• Sparse punctate Cx36 expression was seen in the myenteric plexus in nerve trunks and some platelet-derived growth factor receptor-alpha-positive cell and interstitial cells of Cajal fibers in patients with Hirschsprung’s disease. (PMID:27916369)
• a possible contribution of connexin 36 to amyotrophic lateral sclerosis pathogenesis (PMID:29246791)
• Our findings suggest that the stimulatory effect of hexanol and isoflurane on Cx36 gap junction conductance could be achieved by re-shuffling of the inter-subunit disulphide bond between C264 and C92 to the intra-subunit one between C264 and C87. (PMID:29298877)
• Our studies have shown that the heritability of myopia makes 66.4% in Lithuania. We detected significant associations between the combinations of GJD2 CC and RASGRF1 GT and odds ratio of developing myopia. (PMID:29793445)
• Phenotypic Consequences of the GJD2 Risk Genotype in Myopia Development. (PMID:34406332)
• The Role of GJD2(Cx36) in Refractive Error Development. (PMID:35262731)
• Association of CX36 Protein Encoding Gene GJD2 with Refractive Errors. (PMID:35885949)
• Cryo-EM structures of human Cx36/GJD2 neuronal gap junction channel. (PMID:36906653)
• Restoring connexin-36 function in diabetogenic environments precludes mouse and human islet dysfunction. (PMID:37578890)
• Assembly mechanisms of the neuronal gap junction channel connexin 36 elucidated by Cryo-EM. (PMID:38490311)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	GJD2	ENSDARG00000067999
danio_rerio	gjd2b	ENSDARG00000070781
mus_musculus	Gjd2	ENSMUSG00000068615
rattus_norvegicus	Gjd2	ENSRNOG00000008337

Paralogs (20): GJA8 (ENSG00000121634), GJB6 (ENSG00000121742), GJA3 (ENSG00000121743), GJA9 (ENSG00000131233), GJA10 (ENSG00000135355), GJA1 (ENSG00000152661), GJB7 (ENSG00000164411), GJB2 (ENSG00000165474), GJB1 (ENSG00000169562), GJC3 (ENSG00000176402), GJD4 (ENSG00000177291), GJC1 (ENSG00000182963), GJD3 (ENSG00000183153), GJA4 (ENSG00000187513), GJB3 (ENSG00000188910), GJB5 (ENSG00000189280), GJB4 (ENSG00000189433), GJC2 (ENSG00000198835), GJE1 (ENSG00000203733), GJA5 (ENSG00000265107)

Protein

Protein identifiers

Gap junction delta-2 protein — Q9UKL4 (reviewed: Q9UKL4)

Alternative names: Connexin-36, Gap junction alpha-9 protein

All UniProt accessions (1): Q9UKL4

UniProt curated annotations — full annotation on UniProt →

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.

Subunit / interactions. A connexon is composed of a hexamer of connexins.

Subcellular location. Cell membrane. Cell junction. Gap junction.

Tissue specificity. Highly expressed in neurons.

Similarity. Belongs to the connexin family. Delta-type subfamily.

RefSeq proteins (1): NP_065711* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000500	Connexin	Family
IPR002260	Connexin36	Family
IPR013092	Connexin_N	Domain
IPR017990	Connexin_CS	Conserved_site
IPR019570	Connexin_CCC	Domain
IPR038359	Connexin_N_sf	Homologous_superfamily

Pfam: PF00029

UniProt features (24 total): helix 7, topological domain 5, strand 4, transmembrane region 4, chain 1, region of interest 1, compositionally biased region 1, turn 1

Structure

Experimental structures (PDB)

24 structures.

PDB	Method	Resolution (Å)
8QOJ	ELECTRON MICROSCOPY	2.13
7XKT	ELECTRON MICROSCOPY	2.2
9IPO	ELECTRON MICROSCOPY	2.41
9IPN	ELECTRON MICROSCOPY	2.46
8XGD	ELECTRON MICROSCOPY	2.5
8R7P	ELECTRON MICROSCOPY	2.53
8XH9	ELECTRON MICROSCOPY	2.58
8IYG	ELECTRON MICROSCOPY	2.69
8XGJ	ELECTRON MICROSCOPY	2.7
8XH8	ELECTRON MICROSCOPY	2.72
8R7Q	ELECTRON MICROSCOPY	2.78
8XGE	ELECTRON MICROSCOPY	2.89
8XGF	ELECTRON MICROSCOPY	2.95
8R7R	ELECTRON MICROSCOPY	2.97
7XL8	ELECTRON MICROSCOPY	3
7XNH	ELECTRON MICROSCOPY	3.1
7XKK	ELECTRON MICROSCOPY	3.2
8XGG	ELECTRON MICROSCOPY	3.2
7XKI	ELECTRON MICROSCOPY	3.4
7XNV	ELECTRON MICROSCOPY	3.4
9IP5	ELECTRON MICROSCOPY	3.52
9IPM	ELECTRON MICROSCOPY	3.56
8HKP	ELECTRON MICROSCOPY	3.6
2N6A	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UKL4-F1	73.66	0.37

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-112303	Electric Transmission Across Gap Junctions
R-HSA-190861	Gap junction assembly

MSigDB gene sets: 119 (showing top): BENPORATH_ES_WITH_H3K27ME3, WWTAAGGC_UNKNOWN, NKX25_02, chr15q14, CREBP1_Q2, REACTOME_MEMBRANE_TRAFFICKING, CHX10_01, GOBP_CELL_CELL_SIGNALING, NKX61_01, CREB_Q4, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, GGARNTKYCCA_UNKNOWN, chr1p34, E4F1_Q6, GOBP_SYNAPTIC_SIGNALING

GO Biological Process (6): cell-cell signaling (GO:0007267), chemical synaptic transmission (GO:0007268), visual perception (GO:0007601), neuronal action potential (GO:0019228), cell communication (GO:0007154), transmembrane transport (GO:0055085)

GO Molecular Function (1): gap junction channel activity (GO:0005243)

GO Cellular Component (6): plasma membrane (GO:0005886), connexin complex (GO:0005922), synapse (GO:0045202), gap junction (GO:0005921), membrane (GO:0016020), anchoring junction (GO:0070161)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Transmission across Electrical Synapses	1
Gap junction trafficking	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular process	2
cell junction	2
cell communication	1
signaling	1
anterograde trans-synaptic signaling	1
sensory perception of light stimulus	1
action potential	1
transmission of nerve impulse	1
transport	1
wide pore channel activity	1
membrane	1
cell periphery	1
gap junction	1
plasma membrane protein complex	1
cell-cell junction	1
cellular anatomical structure	1

Protein interactions and networks

STRING

866 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GJD2	TJP1	Q07157	853
GJD2	GJC1	P36383	775
GJD2	TJP2	Q9UDY2	740
GJD2	MPDZ	O75970	721
GJD2	AFDN	P55196	702
GJD2	TJP3	O95049	680
GJD2	GJB2	P29033	672
GJD2	INS	P01308	630
GJD2	ZC3H11B	A0A1B0GTU1	623
GJD2	PANX1	Q96RD7	592
GJD2	ZMAT4	Q9H898	567
GJD2	CALM1	P02593	561
GJD2	GJE1	A6NN92	527
GJD2	PRSS56	P0CW18	525
GJD2	RASGRF1	Q13972	507

IntAct

109 interactions, top by confidence:

A	B	Type	Score
GJD2	PDZD2	psi-mi:“MI:0407”(direct interaction)	0.440
GJD2	PDZK1	psi-mi:“MI:0407”(direct interaction)	0.440
GJD2	HTRA3	psi-mi:“MI:0407”(direct interaction)	0.440
GJD2	LNX2	psi-mi:“MI:0407”(direct interaction)	0.440
GJD2	PARD3B	psi-mi:“MI:0407”(direct interaction)	0.440
GJD2	HTRA1	psi-mi:“MI:0407”(direct interaction)	0.440
RADIL	GJD2	psi-mi:“MI:0407”(direct interaction)	0.440
GJD2	ARHGEF12	psi-mi:“MI:0407”(direct interaction)	0.440
GJD2	ARHGEF11	psi-mi:“MI:0407”(direct interaction)	0.440
MAST2	GJD2	psi-mi:“MI:0407”(direct interaction)	0.440
GJD2	SNX27	psi-mi:“MI:0407”(direct interaction)	0.440
GJD2	LNX1	psi-mi:“MI:0407”(direct interaction)	0.440
GJD2	TJP2	psi-mi:“MI:0407”(direct interaction)	0.440
APBA1	GJD2	psi-mi:“MI:0407”(direct interaction)	0.440
GJD2	NOS1	psi-mi:“MI:0407”(direct interaction)	0.440
GJD2	APBA3	psi-mi:“MI:0407”(direct interaction)	0.440
GJD2	MAST1	psi-mi:“MI:0407”(direct interaction)	0.440
GJD2	GRIP1	psi-mi:“MI:0407”(direct interaction)	0.440
GJD2	PICK1	psi-mi:“MI:0407”(direct interaction)	0.440
GJD2	IL16	psi-mi:“MI:0407”(direct interaction)	0.440
GJD2	PALS2	psi-mi:“MI:0407”(direct interaction)	0.440
GJD2	MPDZ	psi-mi:“MI:0407”(direct interaction)	0.440
GJD2	LIN7C	psi-mi:“MI:0407”(direct interaction)	0.440
GJD2	PCLO	psi-mi:“MI:0407”(direct interaction)	0.440
GJD2	APBA2	psi-mi:“MI:0407”(direct interaction)	0.440
GJD2	TJP1	psi-mi:“MI:0407”(direct interaction)	0.440
GJD2	MPP2	psi-mi:“MI:0407”(direct interaction)	0.440
GJD2	NHERF4	psi-mi:“MI:0407”(direct interaction)	0.440
GJD2	LIN7B	psi-mi:“MI:0407”(direct interaction)	0.440
GJD2	MAGI1	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (5): GJD2 (Affinity Capture-Western), GJD2 (Reconstituted Complex), GJD2 (Reconstituted Complex), GJD2 (Negative Genetic), GJD2 (Positive Genetic)

ESM2 similar proteins: A2VE67, A4FUN9, A6NN92, O18968, O54851, O70610, O75712, O93533, O95377, O95452, P08033, P08034, P08983, P16864, P21994, P25305, P28230, P28231, P28232, P28233, P29033, P36380, P46691, P51915, P51916, P69998, P69999, P70689, Q00977, Q02738, Q02739, Q03190, Q0V990, Q29559, Q58D78, Q5E9Z5, Q60HF7, Q6PEY0, Q6S5G4, Q6WGK6

Diamond homologs: A2VE67, A4GG66, A4GVD1, A4IFL1, A6XKM2, O18968, O54851, O57474, O70610, O75712, O93533, O95377, O95452, P08033, P08034, P08050, P08983, P14154, P16863, P16864, P17302, P18246, P18860, P18861, P21994, P23242, P25305, P28228, P28229, P28230, P28231, P28232, P28233, P28234, P28235, P28236, P29033, P29414, P29415, P33725

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 71 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Ras activation upon Ca2+ influx through NMDA receptor	5	60.7×	6e-07
Unblocking of NMDA receptors, glutamate binding and activation	5	57.9×	6e-07
Negative regulation of NMDA receptor-mediated neuronal transmission	5	57.9×	6e-07
Assembly and cell surface presentation of NMDA receptors	10	54.0×	1e-13
Dopamine Neurotransmitter Release Cycle	5	52.8×	8e-07
Long-term potentiation	5	50.6×	9e-07
Neurexins and neuroligins	11	46.1×	6e-14
Protein-protein interactions at synapses	7	39.5×	2e-08

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	10	84.2×	6e-15
protein localization to synapse	6	66.6×	3e-08
receptor clustering	7	63.3×	3e-09
regulation of postsynaptic membrane neurotransmitter receptor levels	7	50.3×	1e-08
cell-cell adhesion	9	13.2×	2e-06
protein-containing complex assembly	7	11.6×	1e-04
chemical synaptic transmission	7	7.8×	1e-03
intracellular signal transduction	8	4.4×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

30 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	29
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

622 predictions. Top by Δscore:

Variant	Effect	Δscore
15:34753378:C:CT	acceptor_gain	0.9900
15:34753379:G:T	acceptor_gain	0.9900
15:34753371:TC:T	acceptor_gain	0.9800
15:34753372:CC:C	acceptor_gain	0.9800
15:34753373:C:A	acceptor_loss	0.9800
15:34753373:C:CC	acceptor_gain	0.9800
15:34753374:T:G	acceptor_loss	0.9800
15:34754419:T:TA	donor_gain	0.9800
1:38881476:G:C	donor_gain	0.9800
15:34753368:GGATC:G	acceptor_gain	0.9700
15:34754416:ACCT:A	donor_gain	0.9700
15:34754417:CCTC:C	donor_gain	0.9700
1:38881429:AAC:A	donor_loss	0.9700
1:38881430:ACCT:A	donor_loss	0.9700
1:38881431:CCT:C	donor_loss	0.9700
1:38881431:CCTTT:C	donor_gain	0.9700
15:34753369:GATC:G	acceptor_gain	0.9600
15:34754412:CCTTA:C	donor_loss	0.9600
15:34754413:CTTA:C	donor_loss	0.9600
15:34754414:TTA:T	donor_loss	0.9600
15:34754415:TA:T	donor_loss	0.9600
15:34754417:C:A	donor_loss	0.9600
15:34754420:C:A	donor_gain	0.9600
15:34754416:ACCTC:A	donor_gain	0.9500
15:34754417:CCTCC:C	donor_gain	0.9500
1:38875909:CATTT:C	donor_gain	0.9500
15:34753373:C:T	acceptor_gain	0.9400
15:34754417:CCT:C	donor_gain	0.9300
15:34754654:A:AC	donor_gain	0.9300
15:34754655:A:C	donor_gain	0.9300

AlphaMissense

2083 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:34752620:A:G	L275P	1.000
15:34752629:A:G	L272P	1.000
15:34752640:G:C	N268K	1.000
15:34752640:G:T	N268K	1.000
15:34752661:A:C	S261R	1.000
15:34752661:A:T	S261R	1.000
15:34752663:T:G	S261R	1.000
15:34752707:C:G	R246P	1.000
15:34752708:G:C	R246G	1.000
15:34752718:A:C	C242W	1.000
15:34752719:C:G	C242S	1.000
15:34752720:A:G	C242R	1.000
15:34752720:A:T	C242S	1.000
15:34752736:G:C	C236W	1.000
15:34752805:G:C	F213L	1.000
15:34752805:G:T	F213L	1.000
15:34752807:A:G	F213L	1.000
15:34753165:G:C	F93L	1.000
15:34753165:G:T	F93L	1.000
15:34753166:A:G	F93S	1.000
15:34753167:A:G	F93L	1.000
15:34753170:A:G	C92R	1.000
15:34753172:A:T	L91H	1.000
15:34753174:A:C	S90R	1.000
15:34753174:A:T	S90R	1.000
15:34753176:T:G	S90R	1.000
15:34753178:G:C	P89R	1.000
15:34753178:G:T	P89H	1.000
15:34753185:A:G	C87R	1.000
15:34753209:A:G	W79R	1.000

dbSNP variants (sampled 300 via entrez): RS1000124514 (15:34756225 G>A), RS1000155499 (15:34756005 C>T), RS1000561441 (15:34752742 G>A), RS1001796354 (15:34754966 G>A,T), RS1001825887 (15:34754727 G>A,C), RS1002082225 (15:34752216 C>T), RS1002369340 (15:34752013 G>A,T), RS1002520902 (15:34752301 G>A), RS1002855442 (15:34756518 A>G), RS1002962188 (15:34752036 G>A), RS1005391940 (15:34753816 T>C), RS1006265720 (15:34756138 A>G), RS1006366821 (15:34755273 G>C), RS1006478072 (15:34750749 CAAGT>C), RS1007762619 (15:34755604 A>G)

Disease associations

OMIM: gene MIM:607058 | disease phenotypes: MIM:612098, MIM:612794, MIM:613424

GenCC curated gene-disease

Mondo (3): hypertrophic cardiomyopathy 11 (MONDO:0012799), atrial septal defect 5 (MONDO:0013011), dilated cardiomyopathy 1R (MONDO:0013261)

Orphanet (3): Interatrial communication (Orphanet:1478), Familial isolated dilated cardiomyopathy (Orphanet:154), Left ventricular noncompaction (Orphanet:54260)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

16 associations (top):

Study	Trait	p-value
GCST000795_1	Refractive error	2.000000e-14
GCST001858_17	Refractive error	1.000000e-15
GCST002115_18	Axial length	4.000000e-11
GCST002572_3	Congenital left-sided heart lesions	9.000000e-06
GCST002615_3	Myopia	2.000000e-07
GCST002617_4	Hyperopia	9.000000e-11
GCST002836_1	Axial length	2.000000e-08
GCST003455_30	Spherical equivalent (joint analysis main effects and education interaction)	1.000000e-25
GCST003455_31	Spherical equivalent (joint analysis main effects and education interaction)	2.000000e-23
GCST003997_51	Myopia	4.000000e-62
GCST006291_128	Spherical equivalent or myopia (age of diagnosis)	2.000000e-65
GCST009962_4	High myopia	1.000000e-24
GCST010002_165	Refractive error	2.000000e-245
GCST010994_7	High myopia	1.000000e-11
GCST012400_130	Low myopia vs hyperopia	1.000000e-29
GCST012403_14	High myopia	5.000000e-26

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0005318	axial length measurement
EFO:0004784	self reported educational attainment
EFO:0004847	age at onset

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
C567561	Atrial Septal Defect 5 (supp.)
C567419	Cardiomyopathy, Familial Hypertrophic, 11 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: other ic — Connexins and Pannexins

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Doxorubicin	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Silicon Dioxide	increases expression	1
Tetracycline	decreases expression	1
Permethrin	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.