GJA10

Summary

GJA10 (gap junction protein alpha 10, HGNC:16995) is a protein-coding gene on chromosome 6q15, encoding Gap junction alpha-10 protein (Q969M2). 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.

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]).

Source: NCBI Gene 84694 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 86 total
• MANE Select transcript: NM_032602

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16995
Approved symbol	GJA10
Name	gap junction protein alpha 10
Location	6q15
Locus type	gene with protein product
Status	Approved
Aliases	CX62
Ensembl gene	ENSG00000135355
Ensembl biotype	protein_coding
OMIM	611924
Entrez	84694

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000369352, ENST00000458201, ENST00000638915

RefSeq mRNA: 1 — MANE Select: NM_032602 NM_032602

CCDS: CCDS5025

Canonical transcript exons

ENST00000369352 — 1 exons

Exon	Start	End
ENSE00001449702	89894469	89896120

Expression profiles

Bgee: expression breadth tissue_specific, 7 present calls, max score 93.55.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	93.55	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	45.29	silver quality
sural nerve	UBERON:0015488	42.38	gold quality
left testis	UBERON:0004533	39.25	gold quality
granulocyte	CL:0000094	38.66	gold quality
testis	UBERON:0000473	38.15	gold quality
right testis	UBERON:0004534	38.13	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
muscle tissue	UBERON:0002385	32.47	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
prefrontal cortex	UBERON:0000451	31.04	silver quality
leukocyte	CL:0000738	30.23	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
monocyte	CL:0000576	29.80	gold quality
liver	UBERON:0002107	29.68	gold quality
duodenum	UBERON:0002114	28.14	gold quality
blood	UBERON:0000178	27.90	gold quality
islet of Langerhans	UBERON:0000006	27.73	gold quality
urinary bladder	UBERON:0001255	27.69	gold quality
lymph node	UBERON:0000029	27.57	gold quality
placenta	UBERON:0001987	27.45	gold quality
tonsil	UBERON:0002372	27.05	gold quality
frontal cortex	UBERON:0001870	26.61	silver quality
vermiform appendix	UBERON:0001154	26.42	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.95

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 2)

• expression pattern differs from mouse ortholog (PMID:12881038)
• Structural, functional, and mechanistic insights uncover the fundamental role of orphan connexin-62 in platelets. (PMID:32822477)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	gja10b	ENSDARG00000034930
danio_rerio	gja10a	ENSDARG00000057792
mus_musculus	Gja10	ENSMUSG00000051056
rattus_norvegicus	Gja10	ENSRNOG00000006478

Paralogs (20): GJA8 (ENSG00000121634), GJB6 (ENSG00000121742), GJA3 (ENSG00000121743), GJA9 (ENSG00000131233), GJA1 (ENSG00000152661), GJD2 (ENSG00000159248), 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 alpha-10 protein — Q969M2 (reviewed: Q969M2)

Alternative names: Connexin-62

All UniProt accessions (3): A0A1W2PS75, A0A654ICQ6, Q969M2

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. Involved in tracer coupling between horizontal cells of the retina. May play a role in the regulation of horizontal cell patterning.

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

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

Tissue specificity. Expressed in skeletal muscle and heart.

Similarity. Belongs to the connexin family. Alpha-type (group II) subfamily.

RefSeq proteins (1): NP_115991* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF00029

UniProt features (15 total): topological domain 5, transmembrane region 4, compositionally biased region 3, region of interest 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q969M2-F1	58.72	0.21

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: 73 (showing top): chr6q15, GOBP_SYNAPSE_ASSEMBLY, REACTOME_MEMBRANE_TRAFFICKING, GOBP_CELL_CELL_SIGNALING, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, GOBP_RESPONSE_TO_RADIATION, GOBP_DETECTION_OF_LIGHT_STIMULUS, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GOBP_DETECTION_OF_ABIOTIC_STIMULUS, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, GOBP_DETECTION_OF_LIGHT_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION, GOBP_CELL_JUNCTION_ASSEMBLY, REACTOME_GAP_JUNCTION_ASSEMBLY

GO Biological Process (7): cell-cell signaling (GO:0007267), gamete generation (GO:0007276), synapse assembly (GO:0007416), detection of light stimulus involved in visual perception (GO:0050908), cell communication (GO:0007154), response to light stimulus (GO:0009416), transmembrane transport (GO:0055085)

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

GO Cellular Component (5): plasma membrane (GO:0005886), connexin complex (GO:0005922), 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 communication	1
signaling	1
sexual reproduction	1
multicellular organismal reproductive process	1
nervous system development	1
cell junction assembly	1
synapse organization	1
visual perception	1
detection of light stimulus involved in sensory perception	1
response to radiation	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
cell junction	1

Protein interactions and networks

STRING

373 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GJA10	ZNF169	Q14929	452
GJA10	MMS22L	Q6ZRQ5	428
GJA10	HHAT	Q5VTY9	418
GJA10	AOC2	O75106	397
GJA10	ATP1B1	P05026	397
GJA10	TCF7L1	Q9HCS4	393
GJA10	FAM185A	Q8N0U4	370
GJA10	HMX2	A2RU54	366
GJA10	HYAL1	Q12794	352
GJA10	HYAL2	Q12891	351
GJA10	CASP8AP2	Q9UKL3	351
GJA10	ABCA4	P78363	329
GJA10	SYT17	Q9BSW7	325
GJA10	FAXC	Q5TGI0	325
GJA10	NHERF4	Q86UT5	317

IntAct

6 interactions, top by confidence:

A	B	Type	Score
GJA10	AFG3L2	psi-mi:“MI:0915”(physical association)	0.400
P		psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
GJA10	FBXO42	psi-mi:“MI:0914”(association)	0.350

BioGRID (4): GJA10 (Protein-RNA), AFG3L2 (Proximity Label-MS), FBXO42 (Affinity Capture-MS), ETNK1 (Affinity Capture-MS)

ESM2 similar proteins: A0A8M9QN10, A0PK05, A2AHC3, D3Z8E6, D4AEC2, E9Q3C1, P28234, P29414, P55917, P59729, Q08AD1, Q08DM6, Q0VCR2, Q0VCT2, Q13009, Q14CH0, Q3MHM8, Q3V0J1, Q5EB20, Q5HZE8, Q5PQS0, Q5RD34, Q5T5Y3, Q5VUB5, Q60610, Q61194, Q6AYK4, Q6ZUJ8, Q7TNI2, Q7TNN8, Q7TSI1, Q8BGN6, Q8BJN4, Q8C1B1, Q8C3K5, Q8N6S5, Q8WYP3, Q924Y8, Q969M2, Q99PI4

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.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	79
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

134 predictions. Top by Δscore:

Variant	Effect	Δscore
6:89894595:G:GT	donor_gain	0.7600
6:89894648:TTGCA:T	donor_gain	0.6200
6:89894505:G:GT	donor_gain	0.5900
6:89894663:T:G	donor_gain	0.5900
6:89894614:A:AG	donor_gain	0.5400
6:89894615:G:GG	donor_gain	0.5400
6:89894696:GTTC:G	donor_gain	0.5400
6:89894697:TTCT:T	donor_gain	0.5400
6:89895388:A:AG	acceptor_gain	0.5400
6:89895389:G:GG	acceptor_gain	0.5400
6:89895389:GCCAA:G	acceptor_gain	0.5200
6:89894698:T:A	donor_gain	0.4700
6:89895319:A:AC	acceptor_gain	0.4700
6:89894649:T:TA	donor_gain	0.4600
6:89894505:G:T	donor_gain	0.4300
6:89894617:C:A	donor_gain	0.4200
6:89894493:G:GA	donor_gain	0.3900
6:89894699:CTGG:C	donor_gain	0.3900
6:89895320:A:G	acceptor_gain	0.3900
6:89895573:C:G	donor_gain	0.3900
6:89894577:C:CG	donor_gain	0.3600
6:89894970:G:GT	donor_gain	0.3600
6:89895767:G:T	acceptor_gain	0.3600
6:89894650:G:GG	donor_gain	0.3500
6:89895614:A:AG	acceptor_gain	0.3500
6:89895615:G:GG	acceptor_gain	0.3500
6:89894576:ACTT:A	donor_gain	0.3400
6:89894647:G:GT	donor_gain	0.3400
6:89895572:GC:G	donor_gain	0.3400
6:89895768:T:TT	acceptor_gain	0.3400

AlphaMissense

3595 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:89894622:T:C	F52L	0.975
6:89894624:T:A	F52L	0.975
6:89894624:T:G	F52L	0.975
6:89894979:T:C	F171L	0.969
6:89894981:C:A	F171L	0.969
6:89894981:C:G	F171L	0.969
6:89894623:T:G	F52C	0.965
6:89894676:T:C	F70L	0.964
6:89894678:C:A	F70L	0.964
6:89894678:C:G	F70L	0.964
6:89895069:T:C	F201L	0.951
6:89895071:T:A	F201L	0.951
6:89895071:T:G	F201L	0.951
6:89895099:T:C	F211L	0.933
6:89895101:C:A	F211L	0.933
6:89895101:C:G	F211L	0.933
6:89894541:T:A	W25R	0.926
6:89894541:T:C	W25R	0.926
6:89894562:T:C	F32L	0.926
6:89894564:C:A	F32L	0.926
6:89894564:C:G	F32L	0.926
6:89894649:T:A	C61S	0.920
6:89894650:G:C	C61S	0.920
6:89894697:T:C	F77L	0.910
6:89894699:C:A	F77L	0.910
6:89894699:C:G	F77L	0.910
6:89894556:T:C	F30L	0.907
6:89894558:C:A	F30L	0.907
6:89894558:C:G	F30L	0.907
6:89895048:T:A	C194S	0.905

dbSNP variants (sampled 300 via entrez): RS1000027308 (6:89893890 A>G), RS1000059871 (6:89893664 A>G), RS1000134099 (6:89896614 C>T), RS1002764882 (6:89893932 C>T), RS1003766966 (6:89892587 G>A,C), RS1004708080 (6:89892682 AT>A,ATT), RS1004911824 (6:89894047 G>A), RS1005884545 (6:89892937 T>G), RS1006320839 (6:89894261 G>T), RS1006762033 (6:89896575 G>A), RS1007235149 (6:89896225 T>C), RS1010068742 (6:89893255 C>T), RS1012296973 (6:89893960 C>T), RS1012655431 (6:89894226 G>A), RS1012761231 (6:89893754 A>G)

Disease associations

OMIM: gene MIM:611924 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST005212_30	Asthma	2.000000e-12
GCST006409_31	Allergic rhinitis	2.000000e-18
GCST006862_5	Asthma	9.000000e-13
GCST009798_19	Asthma	5.000000e-27

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

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
perfluorooctanoic acid	decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	decreases expression	1
perfluorohexanesulfonic acid	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Vehicle Emissions	decreases methylation	1
Benzo(a)pyrene	decreases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Aflatoxin B1	decreases methylation	1
Permethrin	decreases expression	1

Clinical trials (associated diseases)

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