Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	127534
Gene name	Gap junction protein beta 4
Gene symbol	GJB4
Synonyms (NCBI Gene)	CX30.3EKVEKVP2
Chromosome	1
Chromosome location	1p34.3
Summary	This gene encodes a transmembrane connexin protein that is a component of gap junctions. Mutations in this gene have been associated with erythrokeratodermia variabilis, progressive symmetric erythrokeratoderma and hearing impairment. [provided by RefSeq,

Show/Hide all (73)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018522	hsa-miR-335-5p	Microarray	18185580
MIRT1019782	hsa-let-7a	CLIP-seq
MIRT1019783	hsa-let-7b	CLIP-seq
MIRT1019784	hsa-let-7c	CLIP-seq
MIRT1019785	hsa-let-7d	CLIP-seq
MIRT1019786	hsa-let-7e	CLIP-seq
MIRT1019787	hsa-let-7f	CLIP-seq
MIRT1019788	hsa-let-7g	CLIP-seq
MIRT1019789	hsa-let-7i	CLIP-seq
MIRT1019790	hsa-miR-1266	CLIP-seq
MIRT1019791	hsa-miR-1273g	CLIP-seq
MIRT1019792	hsa-miR-1275	CLIP-seq
MIRT1019793	hsa-miR-1321	CLIP-seq
MIRT1019794	hsa-miR-196a	CLIP-seq
MIRT1019795	hsa-miR-196b	CLIP-seq
MIRT1019796	hsa-miR-1976	CLIP-seq
MIRT1019797	hsa-miR-2278	CLIP-seq
MIRT1019798	hsa-miR-3125	CLIP-seq
MIRT1019799	hsa-miR-3147	CLIP-seq
MIRT1019800	hsa-miR-3162-5p	CLIP-seq
MIRT1019801	hsa-miR-3173-3p	CLIP-seq
MIRT1019802	hsa-miR-3183	CLIP-seq
MIRT1019803	hsa-miR-3187-3p	CLIP-seq
MIRT1019804	hsa-miR-370	CLIP-seq
MIRT1019805	hsa-miR-3916	CLIP-seq
MIRT1019806	hsa-miR-4271	CLIP-seq
MIRT1019807	hsa-miR-4279	CLIP-seq
MIRT1019808	hsa-miR-4419a	CLIP-seq
MIRT1019809	hsa-miR-4425	CLIP-seq
MIRT1019810	hsa-miR-4428	CLIP-seq
MIRT1019811	hsa-miR-4435	CLIP-seq
MIRT1019812	hsa-miR-4458	CLIP-seq
MIRT1019813	hsa-miR-4459	CLIP-seq
MIRT1019814	hsa-miR-4468	CLIP-seq
MIRT1019815	hsa-miR-4500	CLIP-seq
MIRT1019816	hsa-miR-4510	CLIP-seq
MIRT1019817	hsa-miR-4518	CLIP-seq
MIRT1019818	hsa-miR-4651	CLIP-seq
MIRT1019819	hsa-miR-4665-5p	CLIP-seq
MIRT1019820	hsa-miR-4701-5p	CLIP-seq
MIRT1019821	hsa-miR-4723-3p	CLIP-seq
MIRT1019822	hsa-miR-4725-3p	CLIP-seq
MIRT1019823	hsa-miR-4739	CLIP-seq
MIRT1019824	hsa-miR-4756-5p	CLIP-seq
MIRT1019825	hsa-miR-510	CLIP-seq
MIRT1019826	hsa-miR-548s	CLIP-seq
MIRT1019827	hsa-miR-588	CLIP-seq
MIRT1019828	hsa-miR-608	CLIP-seq
MIRT1019829	hsa-miR-635	CLIP-seq
MIRT1019830	hsa-miR-665	CLIP-seq
MIRT1019831	hsa-miR-876-3p	CLIP-seq
MIRT1019832	hsa-miR-892a	CLIP-seq
MIRT1019833	hsa-miR-98	CLIP-seq
MIRT2001974	hsa-miR-342-5p	CLIP-seq
MIRT2001975	hsa-miR-4447	CLIP-seq
MIRT2001976	hsa-miR-4472	CLIP-seq
MIRT1019818	hsa-miR-4651	CLIP-seq
MIRT2001977	hsa-miR-4664-5p	CLIP-seq
MIRT1019828	hsa-miR-608	CLIP-seq
MIRT2235022	hsa-miR-1294	CLIP-seq
MIRT2235023	hsa-miR-3126-5p	CLIP-seq
MIRT2235024	hsa-miR-3151	CLIP-seq
MIRT2001974	hsa-miR-342-5p	CLIP-seq
MIRT2235025	hsa-miR-4316	CLIP-seq
MIRT1019808	hsa-miR-4419a	CLIP-seq
MIRT2001975	hsa-miR-4447	CLIP-seq
MIRT2235026	hsa-miR-4455	CLIP-seq
MIRT2001976	hsa-miR-4472	CLIP-seq
MIRT1019816	hsa-miR-4510	CLIP-seq
MIRT1019818	hsa-miR-4651	CLIP-seq
MIRT2001977	hsa-miR-4664-5p	CLIP-seq
MIRT2235027	hsa-miR-491-5p	CLIP-seq
MIRT1019828	hsa-miR-608	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005243	Function	Gap junction channel activity	IBA
GO:0005243	Function	Gap junction channel activity	IEA
GO:0005243	Function	Gap junction channel activity	ISS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005921	Component	Gap junction	IEA
GO:0005922	Component	Connexin complex	IBA
GO:0005922	Component	Connexin complex	IEA
GO:0005922	Component	Connexin complex	ISS
GO:0007154	Process	Cell communication	IEA
GO:0007267	Process	Cell-cell signaling	IBA
GO:0007267	Process	Cell-cell signaling	IEA
GO:0007267	Process	Cell-cell signaling	ISS
GO:0007608	Process	Sensory perception of smell	IEA
GO:0016020	Component	Membrane	IEA
GO:0030054	Component	Cell junction	IDA
GO:0042048	Process	Olfactory behavior	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:1990349	Process	Gap junction-mediated intercellular transport	IEA
GO:1990349	Process	Gap junction-mediated intercellular transport	ISS

MIM	HGNC	e!Ensembl
605425	4286	ENSG00000189433

Q9NTQ9

Protein name

Gap junction beta-4 protein (Connexin-30.3) (Cx30.3)

Protein function

Structural component of gap junctions (By similarity). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane (By similarity

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00029	Connexin	2 → 210	Connexin	Family

Sequence

MNWAFLQGLLSGVNKYSTVLSRIWLSVVFIFRVLVYVVAAEEVWDDEQKDFVCNTKQPGC
PNVCYDEFFPVSHVRLWALQLILVTCPSLLVVMHVAYREERERKHHLKHGPNAPSLYDNL
SKKRGGLWWTYLLSLIFKAAVDAGFLYIFHRLYKDYDMPRVVACSVEPCPHTVDCYISRP
TEKKVFTYFMVTTAAICILLNLSEVFYLVGKRCMEIFGPRHRRPRCRECLPDTCPPYVLS
QGGHPEDGNSVLMKAGSAPVDAGGYP

Sequence length

266

Interactions

View interactions

	Reactome
			Gap junction assembly

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Erythrokeratodermia variabilis et progressiva 2	Likely pathogenic; Pathogenic	rs80358207, rs80358206, rs80358210, rs80358211, rs80358213	RCV000005307 RCV000005308 RCV000005309 RCV000005310 RCV000005312	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant nonsyndromic hearing loss 3A	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive nonsyndromic hearing loss 1A	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 3A	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 1A	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHROKERATODERMIA VARIABILIS	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythrokeratodermia variabilis et progressiva 1	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GJB4-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GREITHER DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (39)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alopecia	Alopecia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	40430038	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30177841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	11933201, 16297190		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Erythrokeratoderma	Erythrokeratoderma	BEFREE	16297190, 21564177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Erythrokeratodermia Variabilis	Erythrokeratodermia variabilis	Pubtator	11017804, 12648223, 25964267, 30924322, 34669720	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythrokeratodermia variabilis	Erythrokeratodermia Variabilis	BEFREE	11933201, 12648223, 14583444, 19291775, 22266302, 25964267, 29570224		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythrokeratodermia variabilis	Erythrokeratodermia Variabilis	GENOMICS_ENGLAND_DG	12648223		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythrokeratodermia variabilis	Erythrokeratodermia Variabilis	ORPHANET_DG	23037955		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythrokeratodermia variabilis	Erythrokeratodermia Variabilis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythrokeratodermia variabilis	Erythrokeratodermia Variabilis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2	Erythrokeratodermia Variabilis Et Progressiva	UNIPROT_DG	11017804, 12648223, 19291775		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2	Erythrokeratodermia Variabilis Et Progressiva	GENOMICS_ENGLAND_DG	12648223, 21950330, 23037955		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2	Erythrokeratodermia Variabilis Et Progressiva	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	14681040	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	15140211	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkeratosis Epidermolytic	Epidermolytic hyperkeratosis	Pubtator	12648223	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkeratosis, Epidermolytic	Hyperkeratosis, Epidermolytic	CTD_human_DG	16297190		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	BEFREE	15668823		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	30177841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30177841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31692499		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30177841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30177841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	20593197, 25333454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Patchy palmoplantar keratoderma	Patchy palmoplantar keratoderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	16297190	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	15668823		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31692499		★★★★★ ★☆☆☆☆ Found in Text Mining only

GJB4 (gap junction protein beta 4)