HUMAN:CXB2

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	GJB2
Protein Name(s)	Gap junction beta-2 protein Connexin-26 Cx26
External Links
UniProt	P29033
EMBL	M86849 AF281280 AF479776 AY255853 AY275646 AY275647 AY275648 AY275649 AY275650 AY275651 AY275652 AY275653 AY275654 AY280971 AY953438 AY953441 BT006732 AL138688 BC017048 BC071703
CCDS	CCDS9290.1
PIR	A43424
RefSeq	NP_003995.2 XP_005266411.1 XP_005266412.1 XP_005266413.1
UniGene	Hs.524894 Hs.714494
PDB	1XIR 2ZW3 3IZ1 3IZ2
PDBsum	1XIR 2ZW3 3IZ1 3IZ2
ProteinModelPortal	P29033
SMR	P29033
BioGrid	108972
DIP	DIP-59742N
IntAct	P29033
GuidetoPHARMACOLOGY	716
TCDB	1.A.24.1.3
PhosphoSite	P29033
DMDM	77416855
PaxDb	P29033
PRIDE	P29033
DNASU	2706
Ensembl	ENST00000382844 ENST00000382848
GeneID	2706
KEGG	hsa:2706
UCSC	uc001umy.3
CTD	2706
GeneCards	GC13M020761
GeneReviews	GJB2
HGNC	HGNC:4284
HPA	CAB013093
MIM	121011 124500 148210 148350 149200 220290 601544 602540
neXtProt	NX_P29033
Orphanet	90635 90636 330029 494 477 2698 2202 166286
PharmGKB	PA28695
eggNOG	NOG39645
GeneTree	ENSGT00760000118780
HOVERGEN	HBG009576
InParanoid	P29033
KO	K07621
OMA	MYVFYIM
OrthoDB	EOG7P2XSS
PhylomeDB	P29033
TreeFam	TF329606
Reactome	REACT_11050 REACT_9392 REACT_9398 REACT_9509
EvolutionaryTrace	P29033
GeneWiki	GJB2
GenomeRNAi	2706
NextBio	10698
PRO	PR:P29033
Proteomes	UP000005640
Bgee	P29033
ExpressionAtlas	P29033
Genevestigator	P29033
GO	GO:0005922 GO:0005793 GO:0016021 GO:0016328 GO:0005886 GO:0005243 GO:0007267 GO:0034599 GO:0046697 GO:0016264 GO:0030539 GO:0061024 GO:0032355 GO:0044752 GO:0032570 GO:0007605 GO:0006810
InterPro	IPR000500 IPR002268 IPR019570 IPR017990 IPR013092
PANTHER	PTHR11984
Pfam	PF00029 PF10582
PRINTS	PR00206 PR01139
SMART	SM00037 SM01089
PROSITE	PS00407 PS00408

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Notes	Status
	GO:0005243	gap junction channel activity	PMID:24624091^[1]	ECO:0000315			F	Figure 1 shows a much higher concentration of ions in components of the inner human ear for the mutant phenotype. However, in the wild type, with the functional Cx26, you see a much smaller ion concentration, indicating gap junction channel activity.	complete CACAO 10102
enables	GO:0005509	calcium ion binding	PMID:26753910^[2]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
part_of	GO:0005922	connexin complex	PMID:21094651^[3]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:1990349	gap junction-mediated intercellular transport	PMID:21094651^[3]	ECO:0000314	direct assay evidence used in manual assertion		P	Seeded From UniProt	complete
enables	GO:0005243	gap junction channel activity	PMID:21094651^[3]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
part_of	GO:0005887	integral component of plasma membrane	PMID:21094651^[3]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0007267	cell-cell signaling	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q00977	P	Seeded From UniProt	complete
enables	GO:0042802	identical protein binding	PMID:19340074^[4]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P29033	F	Seeded From UniProt	complete
enables	GO:0042802	identical protein binding	PMID:17551008^[5]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P29033	F	Seeded From UniProt	complete
involved_in	GO:0055085	transmembrane transport	GO_REF:0000108	ECO:0000366	evidence based on logical inference from automatic annotation used in automatic assertion	GO:0005243	P	Seeded From UniProt	complete
involved_in	GO:0055085	transmembrane transport	GO_REF:0000108	ECO:0000366	evidence based on logical inference from automatic annotation used in automatic assertion	GO:0005243	P	Seeded From UniProt	complete
involved_in	GO:0055085	transmembrane transport	GO_REF:0000108	ECO:0000364	evidence based on logical inference from manual annotation used in automatic assertion	GO:0005243	P	Seeded From UniProt	complete
involved_in	GO:1905867	epididymis development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P21994 ensembl:ENSRNOP00000011711	P	Seeded From UniProt	complete
part_of	GO:0097449	astrocyte projection	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P21994 ensembl:ENSRNOP00000011711	C	Seeded From UniProt	complete
involved_in	GO:0071549	cellular response to dexamethasone stimulus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P21994 ensembl:ENSRNOP00000011711	P	Seeded From UniProt	complete
involved_in	GO:0071377	cellular response to glucagon stimulus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P21994 ensembl:ENSRNOP00000011711	P	Seeded From UniProt	complete
involved_in	GO:0048839	inner ear development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P21994 ensembl:ENSRNOP00000011711	P	Seeded From UniProt	complete
part_of	GO:0048471	perinuclear region of cytoplasm	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P21994 ensembl:ENSRNOP00000011711	C	Seeded From UniProt	complete
involved_in	GO:0046697	decidualization	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P21994 ensembl:ENSRNOP00000011711	P	Seeded From UniProt	complete
involved_in	GO:0046677	response to antibiotic	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P21994 ensembl:ENSRNOP00000011711	P	Seeded From UniProt	complete
involved_in	GO:0044752	response to human chorionic gonadotropin	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P21994 ensembl:ENSRNOP00000011711	P	Seeded From UniProt	complete
part_of	GO:0044297	cell body	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P21994 ensembl:ENSRNOP00000011711	C	Seeded From UniProt	complete
involved_in	GO:0034599	cellular response to oxidative stress	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P21994 ensembl:ENSRNOP00000011711	P	Seeded From UniProt	complete
involved_in	GO:0032570	response to progesterone	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P21994 ensembl:ENSRNOP00000011711	P	Seeded From UniProt	complete
involved_in	GO:0032526	response to retinoic acid	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P21994 ensembl:ENSRNOP00000011711	P	Seeded From UniProt	complete
involved_in	GO:0032496	response to lipopolysaccharide	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P21994 ensembl:ENSRNOP00000011711	P	Seeded From UniProt	complete
involved_in	GO:0032355	response to estradiol	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P21994 ensembl:ENSRNOP00000011711	P	Seeded From UniProt	complete
part_of	GO:0030054	cell junction	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P21994 ensembl:ENSRNOP00000011711	C	Seeded From UniProt	complete
part_of	GO:0016328	lateral plasma membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P21994 ensembl:ENSRNOP00000011711	C	Seeded From UniProt	complete
involved_in	GO:0007568	aging	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P21994 ensembl:ENSRNOP00000011711	P	Seeded From UniProt	complete
involved_in	GO:0007565	female pregnancy	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P21994 ensembl:ENSRNOP00000011711	P	Seeded From UniProt	complete
part_of	GO:0005921	gap junction	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P21994 ensembl:ENSRNOP00000011711	C	Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P21994 ensembl:ENSRNOP00000011711	C	Seeded From UniProt	complete
part_of	GO:0005829	cytosol	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P21994 ensembl:ENSRNOP00000011711	C	Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P21994 ensembl:ENSRNOP00000011711	C	Seeded From UniProt	complete
enables	GO:0005243	gap junction channel activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P21994 ensembl:ENSRNOP00000011711	F	Seeded From UniProt	complete
involved_in	GO:0002931	response to ischemia	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P21994 ensembl:ENSRNOP00000011711	P	Seeded From UniProt	complete
involved_in	GO:1990349	gap junction-mediated intercellular transport	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q00977 ensembl:ENSMUSP00000054343	P	Seeded From UniProt	complete
involved_in	GO:0016264	gap junction assembly	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q00977 ensembl:ENSMUSP00000054343	P	Seeded From UniProt	complete
involved_in	GO:0007267	cell-cell signaling	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q00977 ensembl:ENSMUSP00000054343	P	Seeded From UniProt	complete
part_of	GO:0005922	connexin complex	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q00977 ensembl:ENSMUSP00000054343	C	Seeded From UniProt	complete
part_of	GO:0005921	gap junction	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q00977 ensembl:ENSMUSP00000054343	C	Seeded From UniProt	complete
part_of	GO:0005887	integral component of plasma membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q00977 ensembl:ENSMUSP00000054343	C	Seeded From UniProt	complete
enables	GO:0005243	gap junction channel activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q00977 ensembl:ENSMUSP00000054343	F	Seeded From UniProt	complete
part_of	GO:0005922	connexin complex	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR000500 InterPro:IPR002268 InterPro:IPR017990	C	Seeded From UniProt	complete
involved_in	GO:0007154	cell communication	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR000500 InterPro:IPR002268 InterPro:IPR017990	P	Seeded From UniProt	complete
involved_in	GO:0016264	gap junction assembly	Reactome:R-HSA-190861	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	Reactome:R-HSA-451056	ECO:0000304	author statement supported by traceable reference used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	Reactome:R-HSA-451056	ECO:0000304	author statement supported by traceable reference used in manual assertion		C	Seeded From UniProt	complete
enables	GO:0046872	metal ion binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0479	F	Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0812	C	Seeded From UniProt	complete
involved_in	GO:0007605	sensory perception of sound	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-1009	P	Seeded From UniProt	complete
part_of	GO:0030054	cell junction	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0965	C	Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-1003 UniProtKB-SubCell:SL-0039	C	Seeded From UniProt	complete
part_of	GO:0005921	gap junction	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0303 UniProtKB-SubCell:SL-0124	C	Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472	C	Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ Zonta, F et al. (2014) Molecular dynamics simulations highlight structural and functional alterations in deafness-related M34T mutation of connexin 26. Front Physiol 5 85 PubMed GONUTS page
↑ Bennett, BC et al. (2016) An electrostatic mechanism for Ca(2+)-mediated regulation of gap junction channels. Nat Commun 7 8770 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 ^3.3 Oshima, A et al. (2011) Asymmetric configurations and N-terminal rearrangements in connexin26 gap junction channels. J. Mol. Biol. 405 724-35 PubMed GONUTS page
↑ Maeda, S et al. (2009) Structure of the connexin 26 gap junction channel at 3.5 A resolution. Nature 458 597-602 PubMed GONUTS page
↑ Oshima, A et al. (2007) Three-dimensional structure of a human connexin26 gap junction channel reveals a plug in the vestibule. Proc. Natl. Acad. Sci. U.S.A. 104 10034-9 PubMed GONUTS page

[PMID:24624091-1] Zonta, F et al. (2014) Molecular dynamics simulations highlight structural and functional alterations in deafness-related M34T mutation of connexin 26. Front Physiol 5 85 PubMed GONUTS page

[PMID:26753910-2] Bennett, BC et al. (2016) An electrostatic mechanism for Ca(2+)-mediated regulation of gap junction channels. Nat Commun 7 8770 PubMed GONUTS page

[PMID:21094651-3] 3.0 ^3.1 ^3.2 ^3.3 Oshima, A et al. (2011) Asymmetric configurations and N-terminal rearrangements in connexin26 gap junction channels. J. Mol. Biol. 405 724-35 PubMed GONUTS page

[PMID:19340074-4] Maeda, S et al. (2009) Structure of the connexin 26 gap junction channel at 3.5 A resolution. Nature 458 597-602 PubMed GONUTS page

[PMID:17551008-5] Oshima, A et al. (2007) Three-dimensional structure of a human connexin26 gap junction channel reveals a plug in the vestibule. Proc. Natl. Acad. Sci. U.S.A. 104 10034-9 PubMed GONUTS page

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HUMAN:CXB2

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