MultifacetedProtDB - Bologna Biocomputing Group

Structure

PDB	Resolution (Å)	PDB name
2ZW3	3.5	Structure of the connexin-26 gap junction channel at 3.5 angstrom resolution
3IZ1	6.0	C-alpha model fitted into the EM structure of Cx26M34A
3IZ2	10.0	C-alpha model fitted into the EM structure of Cx26M34Adel2-7
5ER7	3.286	Connexin-26 Bound to Calcium
5ERA	3.8	Human Connexin-26 (Calcium-free)
5KJ3		Connexin 26 WT peptide NMR Structure
5KJG		Connexin 26 G12R mutant NMR structure
6UVR	4.0	Human Connexin-26 (Neutral pH open conformation)
6UVS	4.2	Human Connexin-26 (Low pH open conformation)
6UVT	7.5	Human Connexin-26 (Low pH closed conformation)
7QEO	2.9	human Connexin 26 at 55mm Hg PCO2, pH7.4: two masked subunits, class C
7QEQ	1.9	human Connexin 26 dodecamer at 90mmHg PCO2, pH7.4
7QER	2.2	human Connexin 26 dodecamer at 55mm Hg PCO2, pH7.4
7QES	2.6	human Connexin 26 at 55mm Hg PCO2, pH7.4: two masked subunits, class A
7QET	2.1	human Connexin 26 dodecamer at 20mmHg PCO2, pH7.4
7QEU	2.7	human Connexin 26 at 55mmHg PCO2, pH7.4: two masked subunits, class B
7QEV	2.9	human Connexin 26 at 55mm Hg PCO2, pH7.4:two masked subunits, class D
7QEW	2.1	human Connexin 26 class 2 hexamer at 90mmHg PCO2, pH7.4
7QEY	2.0	human Connexin 26 class 1 hexamer at 90mmHg PCO2, pH7.4

GO term

GO ontology	GO term	GO description
Biological Process	GO:0007568	aging
Biological Process	GO:0007267	cell-cell signaling
Biological Process	GO:0071549	cellular response to dexamethasone stimulus
Biological Process	GO:0071377	cellular response to glucagon stimulus
Biological Process	GO:0034599	cellular response to oxidative stress
Biological Process	GO:0046697	decidualization
Biological Process	GO:1905867	epididymis development
Biological Process	GO:0016264	gap junction assembly
Biological Process	GO:1990349	gap junction-mediated intercellular transport
Biological Process	GO:0048839	inner ear development
Biological Process	GO:0046677	response to antibiotic
Biological Process	GO:0032355	response to estradiol
Biological Process	GO:0044752	response to human chorionic gonadotropin
Biological Process	GO:0002931	response to ischemia
Biological Process	GO:0032496	response to lipopolysaccharide
Biological Process	GO:0032570	response to progesterone
Biological Process	GO:0032526	response to retinoic acid
Biological Process	GO:0007605	sensory perception of sound
Biological Process	GO:0055085	transmembrane transport
Molecular Function	GO:0005509	calcium ion binding
Molecular Function	GO:0005243	gap junction channel activity
Molecular Function	GO:1903763	gap junction channel activity involved in cell communication by electrical coupling
Molecular Function	GO:0042802	identical protein binding
Cellular Component	GO:0097449	astrocyte projection
Cellular Component	GO:0044297	cell body
Cellular Component	GO:0005922	connexin complex
Cellular Component	GO:0005829	cytosol
Cellular Component	GO:0005793	endoplasmic reticulum-Golgi intermediate compartment
Cellular Component	GO:0005921	gap junction
Cellular Component	GO:0016328	lateral plasma membrane
Cellular Component	GO:0048471	perinuclear region of cytoplasm
Cellular Component	GO:0005886	plasma membrane

InterPro / Pfam

InterPro	InterPro name
IPR000500	Connexin
IPR002268	Gap junction beta-2 protein (Cx26)
IPR013092	Connexin, N-terminal
IPR017990	Connexin, conserved site
IPR019570	Gap junction protein, cysteine-rich domain
IPR038359	Connexin, N-terminal domain superfamily

Pfam	Pfam name
PF00029	Connexin

Reactome

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-190704	Oligomerization of connexins into connexons	Leaf	R-HSA-5653656	Vesicle-mediated transport
R-HSA-190827	Transport of connexins along the secretory pathway	Leaf	R-HSA-5653656	Vesicle-mediated transport
R-HSA-190861	Gap junction assembly	Internal node	R-HSA-5653656	Vesicle-mediated transport
R-HSA-190872	Transport of connexons to the plasma membrane	Internal node	R-HSA-5653656	Vesicle-mediated transport

Subcellular location

Location	ECO term	Pubmed
Cell junction, gap junction	ECO:0000269	PubMed:16849369
Cell junction, gap junction	ECO:0000269	PubMed:17551008
Cell junction, gap junction	ECO:0000269	PubMed:19340074
Cell junction, gap junction	ECO:0000269	PubMed:19384972
Cell junction, gap junction	ECO:0000269	PubMed:21094651
Cell junction, gap junction	ECO:0000269	PubMed:26753910
Cell membrane	ECO:0000269	PubMed:16849369
Cell membrane	ECO:0000269	PubMed:17551008
Cell membrane	ECO:0000269	PubMed:19340074
Cell membrane	ECO:0000269	PubMed:19384972
Cell membrane	ECO:0000269	PubMed:21094651
Cell membrane	ECO:0000269	PubMed:26753910

Interactor | Variant | Drug

Phenotype

HPO ID	HPO name
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000044	Hypogonadotropic hypogonadism
HP:0000164	Abnormality of the dentition
HP:0000175	Cleft palate
HP:0000221	Furrowed tongue
HP:0000230	Gingivitis
HP:0000365	Hearing impairment
HP:0000381	Stapes ankylosis
HP:0000399	Prelingual sensorineural hearing impairment
HP:0000405	Conductive hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000408	Progressive sensorineural hearing impairment
HP:0000410	Mixed hearing impairment
HP:0000491	Keratitis
HP:0000495	Recurrent corneal erosions
HP:0000509	Conjunctivitis
HP:0000559	Corneal scarring
HP:0000561	Absent eyelashes
HP:0000572	Visual loss
HP:0000613	Photophobia
HP:0000618	Blindness
HP:0000653	Sparse eyelashes
HP:0000691	Microdontia
HP:0000962	Hyperkeratosis
HP:0000966	Hypohidrosis
HP:0000972	Palmoplantar hyperkeratosis
HP:0000982	Palmoplantar keratoderma
HP:0001019	Erythroderma
HP:0001097	Keratoconjunctivitis sicca
HP:0001128	Trichiasis
HP:0001305	Dandy-Walker malformation
HP:0001320	Cerebellar vermis hypoplasia
HP:0001369	Arthritis
HP:0001419	X-linked recessive inheritance
HP:0001508	Failure to thrive
HP:0001581	Recurrent skin infections
HP:0001596	Alopecia
HP:0001597	Abnormality of the nail
HP:0001751	Abnormal vestibular function
HP:0001761	Pes cavus
HP:0001805	Onychogryposis
HP:0001820	Leukonychia
HP:0001999	Abnormal facial shape
HP:0002143	Abnormal spinal cord morphology
HP:0002164	Nail dysplasia
HP:0002209	Sparse scalp hair
HP:0002221	Absent axillary hair
HP:0002555	Absent pubic hair
HP:0002673	Coxa valga
HP:0002745	Oral leukoplakia
HP:0002797	Osteolysis
HP:0002860	Squamous cell carcinoma
HP:0002987	Elbow flexion contracture
HP:0003065	Patellar hypoplasia
HP:0003577	Congenital onset
HP:0003593	Infantile onset
HP:0003623	Neonatal onset
HP:0003765	Psoriasiform dermatitis
HP:0004458	Dilatated internal auditory canal
HP:0004552	Scarring alopecia of scalp
HP:0005328	Progeroid facial appearance
HP:0005401	Recurrent candida infections
HP:0005406	Recurrent bacterial skin infections
HP:0006380	Knee flexion contracture
HP:0007431	Congenital ichthyosiform erythroderma
HP:0007460	Autoamputation of digits
HP:0007465	Honeycomb palmoplantar hyperkeratosis
HP:0007502	Follicular hyperkeratosis
HP:0008038	Aplastic/hypoplastic lacrimal glands
HP:0008064	Ichthyosis
HP:0008069	Neoplasm of the skin
HP:0008070	Sparse hair
HP:0008138	Equinus calcaneus
HP:0008388	Abnormal toenail morphology
HP:0008404	Nail dystrophy
HP:0008527	Congenital sensorineural hearing impairment
HP:0008625	Severe sensorineural hearing impairment
HP:0008788	Delayed pubic bone ossification
HP:0008897	Postnatal growth retardation
HP:0009775	Amniotic constriction ring
HP:0009830	Peripheral neuropathy
HP:0010984	Digenic inheritance
HP:0011220	Prominent forehead
HP:0011370	Recurrent cutaneous fungal infections
HP:0011463	Childhood onset
HP:0011496	Corneal neovascularization
HP:0011859	Punctate keratitis
HP:0012758	Neurodevelopmental delay
HP:0012804	Corneal ulceration
HP:0012844	Trichilemmoma
HP:0025084	Folliculitis
HP:0025092	Epidermal acanthosis
HP:0025610	Posterior blepharitis
HP:0030318	Angular cheilitis
HP:0030839	Knee pain
HP:0031250	Lip fissure
HP:0031288	Cobblestone-like hyperkeratosis
HP:0032107	Limbal stem cell deficiency
HP:0032541	Knuckle pad
HP:0040154	Acne inversa
HP:0040189	Scaling skin
HP:0045059	Hyperkeratotic papule
HP:0045075	Sparse eyebrow
HP:0100543	Cognitive impairment
HP:0100648	Neoplasm of the tongue
HP:0100716	Self-injurious behavior
HP:0100806	Sepsis
HP:0100838	Recurrent cutaneous abscess formation
HP:0200020	Corneal erosion
HP:0200034	Papule
HP:0200035	Skin plaque
HP:0200036	Skin nodule

Tissue and cell type

Disease

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
keratoderma hereditarium mutilans	MONDO:0007422	Q82	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:124500	Orphanet:494
autosomal dominant keratitis-ichthyosis-hearing loss syndrome	MONDO:0007850	Q80	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:148210
palmoplantar keratoderma-deafness syndrome	MONDO:0007852	Q82	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:148350	Orphanet:2202
bart-pumphrey syndrome	MONDO:0007866	Q82	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:149200	Orphanet:2698
noonan syndrome 1	MONDO:0008104	Q87	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:163950
autosomal recessive nonsyndromic hearing loss 1a	MONDO:0009076	H90	chapter8, Diseases of the ear and mastoid process	OMIM:220290
x-linked mixed hearing loss with perilymphatic gusher	MONDO:0010576	H90	chapter8, Diseases of the ear and mastoid process	OMIM:304400	Orphanet:383
x-linked mixed hearing loss with perilymphatic gusher	MONDO:0010576	H91	chapter8, Diseases of the ear and mastoid process	OMIM:304400	Orphanet:383
autosomal recessive nonsyndromic hearing loss 12	MONDO:0011067	H90	chapter8, Diseases of the ear and mastoid process	OMIM:601386
autosomal dominant nonsyndromic hearing loss 3a	MONDO:0011103	H90	chapter8, Diseases of the ear and mastoid process	OMIM:601544
ichthyosis, hystrix-like, with hearing loss	MONDO:0011245	Q80	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:602540
autosomal recessive nonsyndromic hearing loss 1b	MONDO:0012977	H90	chapter8, Diseases of the ear and mastoid process	OMIM:612645
porokeratotic eccrine ostial and dermal duct nevus	MONDO:0015635	Q82	chapter17, Congenital malformations, deformations and chromosomal abnormalities		Orphanet:166286
bresek syndrome	MONDO:0019414	Q87	chapter17, Congenital malformations, deformations and chromosomal abnormalities		Orphanet:85284
sensorineural hearing loss disorder	MONDO:0020678	H90	chapter8, Diseases of the ear and mastoid process

Summary of P29033

Gene: GJB2
Protein: Gap junction beta-2 protein

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of P29033

Gene: GJB2 Protein: Gap junction beta-2 protein

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: GJB2
Protein: Gap junction beta-2 protein