MultifacetedProtDB - Bologna Biocomputing Group

Catalytic activity

The protein has not catalytic activity

Publications

GO ontology	GO term	GO description
Biological Process	GO:0007267	cell-cell signaling
Biological Process	GO:1990349	gap junction-mediated intercellular transport
Biological Process	GO:0042048	olfactory behavior
Biological Process	GO:0007608	sensory perception of smell
Molecular Function	GO:0005243	gap junction channel activity
Cellular Component	GO:0030054	cell junction
Cellular Component	GO:0005922	connexin complex
Cellular Component	GO:0005730	nucleolus
Cellular Component	GO:0005654	nucleoplasm
Cellular Component	GO:0005886	plasma membrane

InterPro	InterPro name
IPR000500	Connexin
IPR002270	Gap junction beta-4 protein (Cx30.3)
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 Name	Node type	Reactome Root	Reactome Root Name
R-HSA-190861	Gap junction assembly	Internal node	R-HSA-5653656	Vesicle-mediated transport

Location	ECO term	Pubmed
Cell junction, gap junction	ECO:0000250
Cell membrane	ECO:0000250

HPO ID	HPO name
HP:0000006	Autosomal dominant inheritance
HP:0000035	Abnormal testis morphology
HP:0000252	Microcephaly
HP:0000365	Hearing impairment
HP:0000411	Protruding ear
HP:0000501	Glaucoma
HP:0000518	Cataract
HP:0000819	Diabetes mellitus
HP:0000958	Dry skin
HP:0000962	Hyperkeratosis
HP:0000982	Palmoplantar keratoderma
HP:0000988	Skin rash
HP:0000992	Cutaneous photosensitivity
HP:0000998	Hypertrichosis
HP:0001034	Hypermelanotic macule
HP:0001156	Brachydactyly
HP:0001182	Tapered finger
HP:0001249	Intellectual disability
HP:0001595	Abnormal hair morphology
HP:0001596	Alopecia
HP:0001597	Abnormality of the nail
HP:0001824	Weight loss
HP:0002230	Generalized hirsutism
HP:0003577	Congenital onset
HP:0004322	Short stature
HP:0005588	Patchy palmoplantar hyperkeratosis
HP:0007400	Irregular hyperpigmentation
HP:0007957	Corneal opacity
HP:0008066	Abnormal blistering of the skin
HP:0008069	Neoplasm of the skin
HP:0010783	Erythema
HP:0012733	Macule
HP:0030680	Abnormality of cardiovascular system morphology
HP:0200035	Skin plaque

Tissue	Cell type	Expression level	Reliability
cerebellum	cells in granular layer	Low	Enhanced
esophagus	squamous epithelial cells	Low	Enhanced
hair	cells in cortex/medulla	Medium	Enhanced
hair	cells in external root sheath	Medium	Enhanced
lung	alveolar cells	Low	Enhanced
lung	macrophages	Medium	Enhanced
oral mucosa	squamous epithelial cells	Medium	Enhanced
skin 1	keratinocytes	High	Enhanced
smooth muscle	smooth muscle cells	Low	Enhanced