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

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
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

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs78499418	RCV005919445
Autosomal dominant nonsyndromic hearing loss 3A	Conflicting classifications of pathogenicity	rs146378222	RCV000490427
Autosomal recessive nonsyndromic hearing loss 1A	Conflicting classifications of pathogenicity	rs146378222	RCV000490427
Cervical cancer	Benign	rs78499418	RCV005919448
Clear cell carcinoma of kidney	Benign	rs78499418	RCV005919449
Erythrokeratodermia variabilis et progressiva 1	Conflicting classifications of pathogenicity	rs148182439	RCV000625934
Gastric cancer	Benign	rs78499418	RCV005919451
GJB4-related disorder	Benign; Likely benign	rs79193415, rs199643649, rs140110665, rs142843509, rs75121921, rs151088412, rs114429815, rs140996335	RCV003977709 RCV003956552 RCV003961959 RCV003903304 RCV003928592 RCV003970845 RCV003916164 RCV003930660
Lung cancer	Benign	rs78499418	RCV005919454
Malignant tumor of esophagus	Benign	rs78499418	RCV005919446
Nonpapillary renal cell carcinoma	Benign	rs78499418	RCV005919447
Ovarian serous cystadenocarcinoma	Benign	rs78499418	RCV005919452
Sarcoma	Benign	rs78499418	RCV005919450
Thyroid cancer, nonmedullary, 1	Benign	rs78499418	RCV005919453

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency	Associate	23141803
Alzheimer Disease	Associate	40430038
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	15140211
Epidermal Cyst	Associate	11676838, 14681040
Erythrokeratoderma Reticular	Associate	11676838, 16297190
Erythrokeratodermia Variabilis	Associate	11017804, 12648223, 25964267, 30924322, 34669720
Hearing Loss	Associate	14681040
Hearing Loss Sensorineural	Associate	15140211
Hyperkeratosis Epidermolytic	Associate	12648223
Nonsyndromic Deafness	Associate	32524838
Skin Diseases	Associate	16297190

GJB4 (gap junction protein beta 4)