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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

GJA10 Gene

protein-coding GIFtS: 49
GCID: GC06P090604

gap junction protein, alpha 10, 62kDa

Explore 3 diseases affiliated with
GJA10 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, Alpha 10, 62kDa¹ ²		Connexin-62³
CX62¹ ² ³ ⁵		Gap Junction Alpha-10 Protein²
RP11-63K6.6²		Connexin-62³
Connexin 62²		Cx62³

External Ids:	HGNC: 16995¹	Entrez Gene: 84694²	Ensembl: ENSG00000135355⁷	OMIM: 611924⁵	UniProtKB: Q969M2³

Export aliases for GJA10 gene to outside databases

Previous GC identifers: GC01M039264 GC01M038347 GC01M038803 GC01M038742 GC01M038743 GC01M038998 GC01M039009 GC01M039102 GC06P090661 GC06P087823

(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 GJA10:

Connexins, such as GJA10, are involved in the formation of gap junctions, intercellular conduits that directly connect

the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which

contains 6 connexin subunits (Sohl et al., 2003 (PubMed 12881038)).(supplied by OMIM, Mar 2008)

UniProtKB/Swiss-Prot: CXA10_HUMAN, Q969M2

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. Involved in tracer coupling between

horizontal cells of the retina. May play a role in the regulation of horizontal cell patterning (By similarity)

summary for GJA10:

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 GJA10

(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_000006.11 NC_018917.1 NT_007299.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the GJA10 gene promoter:
AP-1 Pbx1a Nkx2-2 STAT5A Egr-4 Egr-2 IRF-2 IRF-7A ZID Pax-4a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GJA10 promoter sequence

Search SABiosciences Chromatin IP Primers for GJA10

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GJA10

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

Entrez Gene cytogenetic band: 6q15-q16 Ensembl cytogenetic band: 6q15 HGNC cytogenetic band: 6q15-q16

GJA10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GJA10 gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06P090604: view genomic region (about GC identifiers)

Start:	90,604,188 bp from pter	End:	90,605,839 bp from pter
Size:	1,652 bases	Orientation:	plus 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: CXA10_HUMAN, Q969M2 (See protein sequence)

Recommended Name: Gap junction alpha-10 protein

Size: 543 amino acids; 61872 Da

Subunit: A connexon is composed of a hexamer of connexins (By similarity)

Subcellular location: Cell membrane; Multi-pass membrane protein (By similarity). Cell junction, gap junction (By

similarity)

Explore the universe of human proteins at neXtProt for GJA10: NX_Q969M2

GJA10 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_115991.1

ENSEMBL proteins:

ENSP00000358358

Reactome Protein details: Q969M2
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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	--	--
GO:0005922	connexon complex	IEA	--
GO:0016021	integral to membrane	IEA	--

GJA10 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

GJA10 for domains About GeneDecksing

4 InterPro domains/families:

IPR000500 Connexin

IPR019570 Connexin_CCC

IPR013092 Connexin_N

IPR017990 Connexin_CS

Graphical View of Domain Structure for InterPro Entry Q969M2

ProtoNet protein and cluster: Q969M2

1 Blocks protein family: IPB013092 Connexin

UniProtKB/Swiss-Prot: CXA10_HUMAN, Q969M2

Similarity: Belongs to the connexin family. Alpha-type (group II) 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: CXA10_HUMAN, Q969M2

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. Involved in tracer coupling between

horizontal cells of the retina. May play a role in the regulation of horizontal cell patterning (By similarity)

Genatlas biochemistry entry for GJA10:

gap junction protein alpha 10,31.1kB,(connexin 31.1),expressed in epidermis,mouse Cx 31.1 homolog,monomer of the

connexon (six subunits)

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Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

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

GJA10 for ontologies About GeneDecksing

Animal Models:
3 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Gja10):

nervous system

no phenotypic analysis

vision/eye

GJA10 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 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

Membrane Trafficking

Membrane Trafficking

1.00

Transmission across Chemical Synapses

Neuronal System

0.67

Pathway sources
See GeneCards unified pathways
Show all pathways

5/8 Reactome Pathways for GJA10 (see all 8)

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

GJA10 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for GJA10

STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

5/19 Interacting proteins for GJA10 (ENSP00000358358⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 19)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GJA1	ENSP00000282561⁴	STRING: ENSP00000282561
GJA3	ENSP00000241125⁴	STRING: ENSP00000241125
GJA4	ENSP00000343676⁴	STRING: ENSP00000343676
GJA5	ENSP00000271348⁴	STRING: ENSP00000271348
GJA8	ENSP00000240986⁴	STRING: ENSP00000240986

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:0007268	synaptic transmission	TAS	--
GO:0007276	gamete generation	IEA	--
GO:0007416	synapse assembly	IEA	--
GO:0009416	response to light stimulus	--	--
GO:0050908	detection of light stimulus involved in visual perception	IEA	--

GJA10 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

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for GJA10 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]

Search CenterWatch for drugs/clinical trials and news about GJA10 / CXA10

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
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 GJA10 gene:

NM_032602.1

Unigene Cluster for GJA10:

Gap junction protein, alpha 10, 62kDa

Hs.334499

Unigene Representative Sequence: AF296766

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

ENST00000369352(uc011eaa.2)

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Additional cDNA sequence: AF296766.1

1 DOTS entry:

DT.95232530

2 AceView cDNA sequences:

NM_032602 AF296766

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

GJA10 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAACTATCAC

About this image

GJA10 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

Mature Horizontal Cells

Horizontal, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See GJA10 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GJA10

SOURCE GeneReport for Unigene cluster: Hs.334499

UniProtKB/Swiss-Prot: CXA10_HUMAN, Q969M2

Tissue specificity: Expressed in skeletal muscle and heart

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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 GJA10 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	GJA10¹	gap junction protein, alpha 10, 62kDa	60.53(n) 59.09(a)		771878 XM_001235096.1 XP_001235097.1
lizard (Anolis carolinensis)	Reptilia	GJA10⁶	--	79(a)	1 ↔ 1	1(174622429-174623154)
zebrafish (Danio rerio)	Actinopterygii	cx52.7¹	connexin 52.7	56.19(n) 53.53(a)		572278 NM_001113502.1 NP_001106974.1

ENSEMBL Gene Tree for GJA10 (if available)
TreeFam Gene Tree for GJA10 (if available)

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

Paralogs for GJA10 gene

GJB3² GJB6² GJD3² GJB4² GJB2² GJB7² GJA4² GJC1²

GJA1² GJB5² GJC2² GJA5² GJD2² GJA3² GJA9² GJA8²

GJB1²

11 SIMAP similar genes for GJA10 using alignment to 1 protein entry: CXA10_HUMAN:

GJA3 GJA4 GJA1 GJA9 GJA5 GJB5

GJB4 GJC1 GJA8 GJB7 GJB3

GJA10 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 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs17764308^1,2	C,F,H,	--	90602268(+)	`TTTTAT/CAGGTT`	1	--	us2k¹		13		NA NS EA CSA	1103
rs114928443^1,2	C,F,	--	90602455(+)	`GCATGA/TCCTTG`	1	--	us2k¹		2		WA NA	238
rs7774723^1,2	C,	--	90602535(+)	`ataggC/Tgcaca`	1	--	us2k¹		2		WA	120
rs7774604^1,2	C,	--	90602556(+)	`tggctA/Catttt`	1	--	us2k¹		2		WA NA	122
rs292243^1,2	C,F,A,	--	90602625(-)	`GATGAC/TGAGGT`	1	--	us2k¹		4		WA NA CSA	7
rs292242^1,2	C,A,	--	90602631(-)	`CGGGCA/GGATGA`	1	--	us2k¹		0	--	--	--	--
rs9362697^1,2	C,	--	90602680(+)	`CACTGC/TGCCCA`	1	--	us2k¹		1		CSA	2
rs17707738^1,2	C,F,H,	--	90602735(+)	`TGGAAG/AGAGAG`	1	--	us2k¹ tfbs³ trp³		20		NA NS EA WA	2368
rs138510408^1,2		--	90602739(+)	`AGGAGA/GGAATT`	1	--	us2k¹		0	--	--	--	--
rs80319501^1,2		--	90602766(+)	`TTTTTA/G/TGAAAC`	1	--	us2k¹		1		NA	2

HapMap Linkage Disequilibrium report for GJA10 (90604188 - 90605839 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for GJA10: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GJA10

DNA2.0 Custom Variant and Variant Library Synthesis for GJA10

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

GJA10 for disorders           About GeneDecksing

OMIM gene information: 611924    OMIM disorders: --

3 diseases for GJA10:    About MalaCards

peripheral neuropathy neuropathy neuronitis

Human Genome Epidemiology (HuGE) Navigator: GJA10 (3 documents)

Export disorders for GJA10 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 GJA10 gene integrated from 9 sources:
(articles sorted by number of sources associating them with GJA10)

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

Expression profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse orthologues. (PubMed id 12881038)^{1, 2} Soehl G.... Willecke K. (2003)
Association between genetic variants in VEGF, ERCC3 a nd occupational benzene haematotoxicity. (PubMed id 19773279)¹ Hosgood H.D....Lan Q. (2009)
The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)² Mungall A.J.... Beck S. (2003)
Structural and functional diversity of connexin genes in the mouse and human genome. (PubMed id 12108537)² Willecke K.... Soehl G. (2002)
Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )² Aoki H.... Hino O. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 84694	HGNC: 16995	AceView: CX62	Ensembl:ENSG00000135355	euGenes: HUgn84694
ECgene: GJA10	H-InvDB: GJA10

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for GJA10	Pharmacogenomics, SNPs, Pathways

Intellectual Property for GJA10 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for GJA10 gene:
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GeneCards and IP:
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(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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GJA10 Gene

gap junction protein, alpha 10, 62kDa

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GJA10 Gene

gap junction protein, alpha 10, 62kDa

Aliasesfor GJA10 gene

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Genomic Viewsfor GJA10 gene

Proteinsfor GJA10 gene

Protein Domains /Familiesfor GJA10 gene

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Expression for GJA10 gene

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Intellectual Property
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