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	21873635
GO:0005922	Component	Connexin complex	IBA	21873635
GO:0007267	Process	Cell-cell signaling	IBA	21873635
GO:0016021	Component	Integral component of membrane	IEA
GO:0055085	Process	Transmembrane transport	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

Causal
Disease term	Disease name	dbSNP ID	References
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208

Associations from Text Mining
Disease Name	Relationship Type	References
Dysferlinopathy	Associate	27229680