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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

GJD2 Gene

protein-coding GIFtS: 56
GCID: GC15M035043

gap junction protein, delta 2, 36kDa

(Previous names: gap junction protein, alpha 9, 36kDa )
(Previous symbol: GJA9)

Explore 14 diseases affiliated with
GJD2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Gap Junction Protein, Delta 2, 36kDa¹ ²		Connexin 36²
GJA9¹ ² ³ ⁵		Connexin-36³
CX36¹ ² ⁵		Gap Junction Delta-2 Protein²
Gap Junction Alpha-9 Protein² ³		Connexin-36³
Gap Junction Protein, Alpha 9, 36kDa¹		Cx36³

External Ids:	HGNC: 19154¹	Entrez Gene: 57369²	Ensembl: ENSG00000159248⁷	OMIM: 607058⁵	UniProtKB: Q9UKL4³

Export aliases for GJD2 gene to outside databases

Previous GC identifers: GC15M032833 GC15M011890

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GJD2:

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)

UniProtKB/Swiss-Prot: CXD2_HUMAN, Q9UKL4

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

summary for GJD2:

Gap channels (also known as gap junctions) are specalized cell-cell contacts between almost all eukaryotic

cells that provide direct intracellular communication. Generally, gap channels allow the passive diffusion

of molecules up to 1 kDa which includes nutrients, small metabolites (e.g. glucose), ions (K+, Ca2+) and

second messengers (IP3, cAMP and cGMP). Gap channels allow electrical and biochemical coupling between cells

and in excitable tissues, such as neurons and the heart, enables the generation of synchronized and rapid

responses. Structurally, gap channels are composed of two hemichannels called 'connexons', which themselves

are formed from six connexin molecules. Homo- and heteromeric combinations are seen, which exhibit distinct

permeability, selectivity and functional properties. Pannexins are related to connexins and can also form

gap junctions. However, their expression is limited to the brain. Furthermore, in nonchordate animals a

family of proteins called innexins form these channels. Gap channels are regulated through

post-translational modifications of the C'-terminal cytoplasmic tail and phosphorylation modulates assembly

and their physiological properties. They are continuously synthesized and degraded, allowing tissues to

rapidly adapt to changing environmental conditions. Connexins play a key role in many physiological

processes including cardiac and smooth muscle contraction, regulation of neuronal excitability, epithelial

electrolyte transport and keratinocyte differentiation. Mutations in connexin genes are associated with

human diseases including sensorineural deafness, a variety of skin disorders, peripheral neuropathy and

cardiovascular disease.

Gene Wiki entry for GJD2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000015.9 NC_018926.1 NT_010194.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the GJD2 gene promoter:
Bach1 CREB deltaCREB MyoD
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GJD2 promoter sequence

Search SABiosciences Chromatin IP Primers for GJD2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GJD2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q14 Ensembl cytogenetic band: 15q14 HGNC cytogenetic band: 15q13.1

GJD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GJD2 gene location

GeneLoc information about chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15M035043: view genomic region (about GC identifiers)

Start:	35,043,233 bp from pter	End:	35,047,166 bp from pter
Size:	3,934 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CXD2_HUMAN, Q9UKL4 (See protein sequence)

Recommended Name: Gap junction delta-2 protein

Size: 321 amino acids; 36093 Da

Subunit: A connexon is composed of a hexamer of connexins

Subcellular location: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction

Secondary accessions: Q2M241 Q9P2R0

Explore the universe of human proteins at neXtProt for GJD2: NX_Q9UKL4

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9UKL4

GJD2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_065711.1

ENSEMBL proteins:

ENSP00000290374

Reactome Protein details: Q9UKL4
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Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0005921	gap junction	NAS	--
GO:0005922	connexon complex	IEA	--
GO:0016021	integral to membrane	IEA	--

GJD2 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

GJD2 for domains About GeneDecksing

5 InterPro domains/families:

IPR000500 Connexin

IPR002260 Connexin36

IPR019570 Connexin_CCC

IPR013092 Connexin_N

IPR017990 Connexin_CS

Graphical View of Domain Structure for InterPro Entry Q9UKL4

ProtoNet protein and cluster: Q9UKL4

2 Blocks protein families:

IPB002260 Connexin36 (Cx36) signature

IPB013092 Connexin

UniProtKB/Swiss-Prot: CXD2_HUMAN, Q9UKL4

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CXD2_HUMAN, Q9UKL4

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

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJD2

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005243	gap junction channel activity	TAS	--
GO:0005515	protein binding	--	--

GJD2 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for GJD2:

Decreased Hepatitis C virus re

Animal Models:
Mouse knock-outs for GJD2: Gjd2^tm1Kwi Gjd2^tm1Mony
7 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Gjd2):

behavior/neurological	digestive/alimentary	endocrine/exocrine gland	homeostasis/metabolism	nervous system
no phenotypic analysis	vision/eye

GJD2 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Gap junction assembly

Gap junction assembly	1.00	Connexin synthesis (generic)	0.52
Gap junction trafficking	0.74	Electric Transmission Across Gap Junctions	0.09
Gap junction trafficking and regulation	0.70	Transmission across Electrical Synapses	0.09

Cell adhesion_Gap junctions

Cell adhesion_Gap junctions

1.00

Cell adhesion Gap junctions

0.89

Signaling in Gap Junctions

Signaling in Gap Junctions

1.00

Gap junction

0.31

Membrane Trafficking

Membrane Trafficking

1.00

Transcriptional Regulatory Network in Embryonic Stem Cell

Transcriptional Regulatory Network in Embryonic Stem Cell

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for GJD2

Cell adhesion Gap junctions

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GJD2

	Transcriptional Regulatory Network in Embryonic Stem Cell
	Signaling in Gap Junctions

1 GeneGo (Thomson Reuters) Pathway for GJD2

Cell adhesion Gap junctions

1 BioSystems Pathway for GJD2

Calcium Regulation in the Cardiac Cell

5/8 Reactome Pathways for GJD2 (see all 8)

	Membrane Trafficking
	Electric Transmission Across Gap Junctions
	Gap junction trafficking and regulation
	Neuronal System
	Gap junction assembly

1 Kegg Pathway (Kegg details for GJD2):

Gap junction

GJD2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for GJD2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/33 Interacting proteins for GJD2 (ENSP00000290374⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 33)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GJA1	ENSP00000282561⁴	STRING: ENSP00000282561
MAPK1	ENSP00000215832⁴	STRING: ENSP00000215832
MAPK3	ENSP00000263025⁴	STRING: ENSP00000263025
MAPK7	ENSP00000311005⁴	STRING: ENSP00000311005
PRKACA	ENSP00000309591⁴	STRING: ENSP00000309591

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001508	regulation of action potential	IEA	--
GO:0007154	cell communication	NAS	--
GO:0007267	cell-cell signaling	--	--
GO:0007268	synaptic transmission	TAS	--
GO:0007601	visual perception	IEA	--

GJD2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

GJD2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for GJD2 available from Tocris Bioscience About this table

Compound	Action	CAS #
Gap 26	Gap junction blocker; inhibits smooth muscle contraction and IP3-mediated ATP release	[197250-15-0]
Gap 27	Selective gap junction blocker	[198284-64-9]

2 Novoseek chemical compound relationships for GJD2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
gaba	9.01	3	12859682 (1), 15169831 (1)
dopamine	7.1	3	19940186 (2), 17196757 (1)

Search CenterWatch for drugs/clinical trials and news about GJD2 / CXD2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for GJD2 gene:

NM_020660.2

Unigene Cluster for GJD2:

Gap junction protein, delta 2, 36kDa

Hs.283816

Unigene Representative Sequence: BC112110

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000290374(uc001zis.1)

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Additional cDNA sequence:

BC069131.1 BC069339.1 BC112110.1 BC112114.1 BC143788.1

1 DOTS entry:

DT.91870837

2 AceView cDNA sequences:

BC069339 NM_020660

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

GJD2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTGCTGTAA

About this image

GJD2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

AII Amacrine Cells

Amacrine, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See GJD2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GJD2

SOURCE GeneReport for Unigene cluster: Hs.283816

UniProtKB/Swiss-Prot: CXD2_HUMAN, Q9UKL4

Tissue specificity: Highly expressed in neurons

SABiosciences Expression via Pathway-Focused PCR Arrays including GJD2:

Cell Junction PathwayFinder in human mouse rat

Gap Junctions in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for GJD2 gene from 3/10 species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	GJD2¹	gap junction protein, delta 2, 36kDa	78.44(n) 91.09(a)		395273 NM_204582.1 NP_989913.1
lizard (Anolis carolinensis)	Reptilia	--	--	77(a)	1 ↔ 1	GL344061.1(14778-36918)
zebrafish (Danio rerio)	Actinopterygii	gja9²	gap junction protein alpha 9	77.18(n)		378444 AF462040.1

ENSEMBL Gene Tree for GJD2 (if available)
TreeFam Gene Tree for GJD2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for GJD2 gene

GJB3² GJA10² GJB6² GJD3² GJB4² GJB2² GJB7² GJA4²

GJC1² GJA1² GJB5² GJC2² GJA5² GJA3² GJA8² GJA9²

GJB1²

13 SIMAP similar genes for GJD2 using alignment to 2 protein entries: CXD2_HUMAN (see all proteins):

DKFZp686P0738 GJC1 GJC2 GJA1 GJA8 GJA5

GJA3 GJA4 GJA9 GJB2 GJD3 GJB1

GJB5

GJD2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 15 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs58041931^1,2	C	--	35044153(+)	`AGATTC/TTGAAA`	1	--	ds500¹		1		NA	2
rs572193^1,2	C	--	35044156(+)	`TTCTGA/GAAAAA`	1	--	ds500¹		3		WA NA CSA	5
rs142480430^1,2	C,	--	35044156(+)	`TTCTG-/GAAAAAAA`	1	--	ds500¹		0	--	--	--	--
rs139334662^1,2		--	35044211(+)	`GGAAA-/GGGGCA`	1	--	ds500¹		0	--	--	--	--
rs148186107^1,2		--	35044229(+)	`GGGGGA/TGATAC`	1	--	ds500¹		0	--	--	--	--
rs79846152^1,2	C,F,	--	35044302(+)	`TCACAA/GANNNN`	1	--	ds500¹		1		NA	120
rs181347763^1,2		--	35044372(+)	`GTCCTA/GCTTGG`	1	--	ds500¹		0	--	--	--	--
rs7173113^1,2	C,A,H,	--	35044556(+)	`TTTATC/GCAGTC`	1	--	ds500¹		0	--	--	--	--
rs200915359^1,2		--	35044682(+)	`TCTCAC/TACATA`	2	V	syn¹		0	--	--	--	--
rs34964522^1,2	C,F,	--	35044757(+)	`CGAATC/TTCATA`	2	E	syn¹		4		NA EU	6069

HapMap Linkage Disequilibrium report for GJD2 (35043233 - 35047166 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for GJD2: --
Human Gene Mutation Database (HGMD): GJD2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GJD2

DNA2.0 Custom Variant and Variant Library Synthesis for GJD2

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

GJD2 for disorders           About GeneDecksing

OMIM gene information: 607058    OMIM disorders: --

14 diseases for GJD2:    About MalaCards

peripheral neuropathy neuropathy refractive error juvenile myoclonic epilepsy

myopia 15 neuronitis essential tremor conjunctivitis

tremor hearing loss myopia schizophrenia

retinitis pancreatitis

1 Novoseek disease relationship for GJD2 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
necrosis	0	2	16211561 (1)

Human Genome Epidemiology (HuGE) Navigator: GJD2 (1 document)

Export disorders for GJD2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for GJD2 gene, integrated from 9 sources (see all 57):
(articles sorted by number of sources associating them with GJD2)

Utopia: connect your pdf to the dynamic
world of online information

Structure, chromosomal localization, and brain expression of human Cx36 gene. (PubMed id 10462698)^{1, 2, 3, 9} Belluardo N....Condorelli D.F. (1999)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Cx36 makes channels coupling human pancreatic beta-cells, and correlates with insulin expression. (PubMed id 19000992)^{1, 9} Serre-Beinier V....Meda P. (2009)
Human and mouse microglia express connexin36, and functional gap junctions are formed between rodent microglia and neurons. (PubMed id 16211561)^{1, 9} Dobrenis K....Scemes E. (2005)
Confirmatory evidence for an association of the connexin-36 gene with juvenile myoclonic epilepsy. (PubMed id 16876983)^{1, 9} Hempelmann A....Sander T. (2006)
Neurons and b-cells of the pancreas express connexin36 , forming gap junction channels that exhibit strong cationic selectivity. (PubMed id 22752717)¹ Bukauskas F.F. (2012)
Expression of connexin genes in the human retina. (PubMed id 20979653)¹ SAPhl G....Willecke K. (2010)
A genome-wide association study identifies a suscepti bility locus for refractive errors and myopia at 15q14. (PubMed id 20835239)¹ Solouki A.M....Klaver C.C. (2010)
[Cellular communication and regulation of insulin in t he cell]. (PubMed id 22288100)¹ Meda P. (2010)
Direct association of connexin36 with zonula occluden s-2 and zonula occludens-3. (PubMed id 19418635)¹ Li X....Nagy J.I. (2009)

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		AND	OR
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 57369	HGNC: 19154	AceView: CX36	Ensembl:ENSG00000159248	euGenes: HUgn57369
ECgene: GJD2	Kegg: 57369	H-InvDB: GJD2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for GJD2	Pharmacogenomics, SNPs, Pathways

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Patent Information for GJD2 gene:
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gap junction protein, delta 2, 36kDa

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gap junction protein, delta 2, 36kDa

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