GJD4 (gap junction protein delta 4)

Gene

• Entrez ID: 219770
• Gene name: Gap junction protein delta 4
• Gene symbol: GJD4
• Synonyms (NCBI Gene): CX40.1
• Chromosome: 10
• Chromosome location: 10p11.21
• Summary: Connexins, such as GJD4, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin s

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1020023	hsa-miR-4252	CLIP-seq
MIRT1020024	hsa-miR-4419a	CLIP-seq
MIRT1020025	hsa-miR-4459	CLIP-seq
MIRT1020026	hsa-miR-4510	CLIP-seq
MIRT1020027	hsa-miR-4779	CLIP-seq
MIRT2002060	hsa-miR-1184	CLIP-seq
MIRT2002061	hsa-miR-1254	CLIP-seq
MIRT2002062	hsa-miR-1976	CLIP-seq
MIRT2002063	hsa-miR-198	CLIP-seq
MIRT2002064	hsa-miR-24	CLIP-seq
MIRT2002065	hsa-miR-2861	CLIP-seq
MIRT2002066	hsa-miR-3116	CLIP-seq
MIRT2002067	hsa-miR-3663-5p	CLIP-seq
MIRT2002068	hsa-miR-371-5p	CLIP-seq
MIRT2002069	hsa-miR-371b-5p	CLIP-seq
MIRT2002070	hsa-miR-4284	CLIP-seq
MIRT2002071	hsa-miR-4418	CLIP-seq
MIRT2002072	hsa-miR-4645-5p	CLIP-seq
MIRT2002073	hsa-miR-4673	CLIP-seq
MIRT2002074	hsa-miR-4722-3p	CLIP-seq
MIRT2002075	hsa-miR-4781-3p	CLIP-seq
MIRT2002076	hsa-miR-509-3-5p	CLIP-seq
MIRT2002077	hsa-miR-509-5p	CLIP-seq
MIRT2002078	hsa-miR-513c	CLIP-seq
MIRT2002079	hsa-miR-514b-5p	CLIP-seq
MIRT2002080	hsa-miR-661	CLIP-seq
MIRT2002060	hsa-miR-1184	CLIP-seq
MIRT2235067	hsa-miR-150	CLIP-seq
MIRT2002064	hsa-miR-24	CLIP-seq
MIRT2002070	hsa-miR-4284	CLIP-seq
MIRT2002071	hsa-miR-4418	CLIP-seq
MIRT2002076	hsa-miR-509-3-5p	CLIP-seq
MIRT2002077	hsa-miR-509-5p	CLIP-seq
MIRT2235068	hsa-miR-562	CLIP-seq
MIRT2450303	hsa-miR-1182	CLIP-seq
MIRT2450304	hsa-miR-1208	CLIP-seq
MIRT2450305	hsa-miR-4423-5p	CLIP-seq
MIRT2450306	hsa-miR-892a	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005243	Function	Gap junction channel activity	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005921	Component	Gap junction	IEA
GO:0005922	Component	Connexin complex	IBA
GO:0005922	Component	Connexin complex	IEA
GO:0007154	Process	Cell communication	IEA
GO:0007267	Process	Cell-cell signaling	IBA
GO:0014717	Process	Regulation of satellite cell activation involved in skeletal muscle regeneration	IEA
GO:0016020	Component	Membrane	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070161	Component	Anchoring junction	IEA

Other IDs

• MIM: 611922
• HGNC: 23296
• e!Ensembl: ENSG00000177291

Protein

• UniProt ID: Q96KN9
• Protein name: Gap junction delta-4 protein (Connexin-40.1) (Cx40.1)
• Protein function: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
• PDB: 8GN7, 8GN8, 8GNB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00029	Connexin	4 → 221	Connexin	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in pancreas, kidney, skeletal muscle, liver, placenta, and heart. {ECO:0000269|PubMed:12881038}.
• Sequence:

  MEGVDLLGFLIITLNCNVTMVGKLWFVLTMLLRMLVIVLAGRPVYQDEQERFVCNTLQPG
  CANVCYDVFSPVSHLRFWLIQGVCVLLPSAVFSVYVLHRGATLAALGPRRCPDPREPASG
  QRRCPRPFGERGGLQVPDFSAGYIIHLLLRTLLEAAFGALHYFLFGFLAPKKFPCTRPPC
  TGVVDCYVSRPTEKSLLMLFLWAVSALSFLLGLADLVCSLRRRMRRRPGPPTSPSIRKQS
  GASGHAEGRRTDEEGGREEEGAPAPPGARAGGEGAGSPRRTSRVSGHTKIPDEDESEVTS
  SASEKLGRQPRGRPHREAAQDPRGSGSEEQPSAAPSRLAAPPSCSSLQPPDPPASSSGAP
  HLRARKSEWV

• Sequence length: 370

Pathways

Reactome:

Gap junction assembly

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Dysferlinopathy	Dysferlinopathy	Pubtator	27229680	Associate	★☆☆☆☆ Found in Text Mining only