CNTN4 (contactin 4)

Gene

• Entrez ID: 152330
• Gene name: Contactin 4
• Gene symbol: CNTN4
• Synonyms (NCBI Gene): AXCAM, BIG-2
• Chromosome: 3
• Chromosome location: 3p26.3-p26.2
• Summary: This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded protein is a glycosylphosphatidylinositol-anchored neuron

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT512617	hsa-miR-5586-3p	PAR-CLIP	23446348
MIRT512616	hsa-miR-340-3p	PAR-CLIP	23446348
MIRT512615	hsa-miR-6827-3p	PAR-CLIP	23446348
MIRT512614	hsa-miR-6742-3p	PAR-CLIP	23446348
MIRT512613	hsa-miR-6776-5p	PAR-CLIP	23446348
MIRT512612	hsa-miR-873-3p	PAR-CLIP	23446348
MIRT512611	hsa-miR-661	PAR-CLIP	23446348
MIRT512610	hsa-miR-4504	PAR-CLIP	23446348
MIRT512609	hsa-miR-3672	PAR-CLIP	23446348
MIRT512608	hsa-miR-6864-3p	PAR-CLIP	23446348
MIRT512607	hsa-miR-1262	PAR-CLIP	23446348
MIRT512606	hsa-miR-4701-3p	PAR-CLIP	23446348
MIRT512605	hsa-miR-6736-5p	PAR-CLIP	23446348
MIRT512607	hsa-miR-1262	PAR-CLIP	27292025
MIRT512616	hsa-miR-340-3p	PAR-CLIP	27292025
MIRT512609	hsa-miR-3672	PAR-CLIP	27292025
MIRT512610	hsa-miR-4504	PAR-CLIP	27292025
MIRT512606	hsa-miR-4701-3p	PAR-CLIP	27292025
MIRT512617	hsa-miR-5586-3p	PAR-CLIP	27292025
MIRT512611	hsa-miR-661	PAR-CLIP	27292025
MIRT512605	hsa-miR-6736-5p	PAR-CLIP	27292025
MIRT512614	hsa-miR-6742-3p	PAR-CLIP	27292025
MIRT512613	hsa-miR-6776-5p	PAR-CLIP	27292025
MIRT512615	hsa-miR-6827-3p	PAR-CLIP	27292025
MIRT512608	hsa-miR-6864-3p	PAR-CLIP	27292025
MIRT512612	hsa-miR-873-3p	PAR-CLIP	27292025
MIRT512617	hsa-miR-5586-3p	PAR-CLIP	23446348
MIRT512616	hsa-miR-340-3p	PAR-CLIP	23446348
MIRT512615	hsa-miR-6827-3p	PAR-CLIP	23446348
MIRT512614	hsa-miR-6742-3p	PAR-CLIP	23446348
MIRT512613	hsa-miR-6776-5p	PAR-CLIP	23446348
MIRT512612	hsa-miR-873-3p	PAR-CLIP	23446348
MIRT512611	hsa-miR-661	PAR-CLIP	23446348
MIRT512610	hsa-miR-4504	PAR-CLIP	23446348
MIRT512609	hsa-miR-3672	PAR-CLIP	23446348
MIRT512608	hsa-miR-6864-3p	PAR-CLIP	23446348
MIRT512607	hsa-miR-1262	PAR-CLIP	23446348
MIRT512606	hsa-miR-4701-3p	PAR-CLIP	23446348
MIRT512605	hsa-miR-6736-5p	PAR-CLIP	23446348
MIRT756402	hsa-miR-148a-3p	Luciferase reporter assay, qRT-PCR	36544657
MIRT901689	hsa-miR-103a	CLIP-seq
MIRT901690	hsa-miR-107	CLIP-seq
MIRT901691	hsa-miR-1183	CLIP-seq
MIRT901692	hsa-miR-1224-5p	CLIP-seq
MIRT901693	hsa-miR-1244	CLIP-seq
MIRT901694	hsa-miR-1278	CLIP-seq
MIRT901695	hsa-miR-1304	CLIP-seq
MIRT901696	hsa-miR-200b	CLIP-seq
MIRT901697	hsa-miR-200c	CLIP-seq
MIRT901698	hsa-miR-203	CLIP-seq
MIRT901699	hsa-miR-2467-3p	CLIP-seq
MIRT901700	hsa-miR-338-5p	CLIP-seq
MIRT901701	hsa-miR-33a	CLIP-seq
MIRT901702	hsa-miR-33b	CLIP-seq
MIRT901703	hsa-miR-3678-3p	CLIP-seq
MIRT901704	hsa-miR-3915	CLIP-seq
MIRT901705	hsa-miR-3928	CLIP-seq
MIRT901706	hsa-miR-410	CLIP-seq
MIRT901707	hsa-miR-429	CLIP-seq
MIRT901708	hsa-miR-4424	CLIP-seq
MIRT901709	hsa-miR-4643	CLIP-seq
MIRT901710	hsa-miR-466	CLIP-seq
MIRT901711	hsa-miR-4666-5p	CLIP-seq
MIRT901712	hsa-miR-4689	CLIP-seq
MIRT901713	hsa-miR-4756-3p	CLIP-seq
MIRT901714	hsa-miR-4788	CLIP-seq
MIRT901715	hsa-miR-4789-3p	CLIP-seq
MIRT901716	hsa-miR-519a	CLIP-seq
MIRT901717	hsa-miR-519b-3p	CLIP-seq
MIRT901718	hsa-miR-519c-3p	CLIP-seq
MIRT901719	hsa-miR-656	CLIP-seq
MIRT901720	hsa-miR-885-3p	CLIP-seq
MIRT901693	hsa-miR-1244	CLIP-seq
MIRT901716	hsa-miR-519a	CLIP-seq
MIRT901717	hsa-miR-519b-3p	CLIP-seq
MIRT901718	hsa-miR-519c-3p	CLIP-seq
MIRT901689	hsa-miR-103a	CLIP-seq
MIRT901690	hsa-miR-107	CLIP-seq
MIRT901692	hsa-miR-1224-5p	CLIP-seq
MIRT901694	hsa-miR-1278	CLIP-seq
MIRT901695	hsa-miR-1304	CLIP-seq
MIRT901704	hsa-miR-3915	CLIP-seq
MIRT901705	hsa-miR-3928	CLIP-seq
MIRT901712	hsa-miR-4689	CLIP-seq
MIRT2203192	hsa-miR-616	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	TAS
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	NAS	15106122
GO:0005886	Component	Plasma membrane	TAS
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IBA	21873635
GO:0007158	Process	Neuron cell-cell adhesion	TAS	14571131
GO:0007399	Process	Nervous system development	IMP	15106122
GO:0007409	Process	Axonogenesis	TAS	14571131
GO:0007411	Process	Axon guidance	IBA	21873635
GO:0007411	Process	Axon guidance	TAS	15106122
GO:0007413	Process	Axonal fasciculation	TAS	15106122
GO:0007420	Process	Brain development	ISS
GO:0030424	Component	Axon	IBA	21873635
GO:0030424	Component	Axon	NAS	14571131
GO:0031175	Process	Neuron projection development	ISS
GO:0031225	Component	Anchored component of membrane	IEA
GO:0045665	Process	Negative regulation of neuron differentiation	IMP	14571131
GO:0048167	Process	Regulation of synaptic plasticity	TAS	15106122
GO:0070593	Process	Dendrite self-avoidance	IBA	21873635
GO:0098632	Function	Cell-cell adhesion mediator activity	IBA	21873635

Other IDs

• MIM: 607280
• HGNC: 2174
• e!Ensembl: ENSG00000144619

Protein

• UniProt ID: Q8IWV2
• Protein name: Contactin-4 (Brain-derived immunoglobulin superfamily protein 2) (BIG-2)
• Protein function: Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity. May be involved in synaptogenesis.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07679	I-set	26 → 118	Immunoglobulin I-set domain	Domain
  PF13927	Ig_3	125 → 198		Domain
  PF13927	Ig_3	224 → 299		Domain
  PF07679	I-set	316 → 401	Immunoglobulin I-set domain	Domain
  PF07679	I-set	406 → 494	Immunoglobulin I-set domain	Domain
  PF13927	Ig_3	497 → 579		Domain
  PF00041	fn3	598 → 686	Fibronectin type III domain	Domain
  PF00041	fn3	803 → 889	Fibronectin type III domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Mainly expressed in brain. Highly expressed in cerebellum and weakly expressed in corpus callosum, caudate nucleus, amygdala and spinal cord. Also expressed in testis, pancreas, thyroid, uterus, small intestine and kidney. Not expresse
• Sequence:

  MRLPWELLVLQSFILCLADDSTLHGPIFIQEPSPVMFPLDSEEKKVKLNCEVKGNPKPHI
  RWKLNGTDVDTGMDFRYSVVEGSLLINNPNKTQDAGTYQCTATNSFGTIVSREAKLQFAY
  LDNFKTRTRSTVSVRRGQGMVLLCGPPPHSGELSYAWIFNEYPSYQDNRRFVSQETGNLY
  IAKVEKSDVGNYTCVVTNTVTNHKVLGPPTPLILRNDGVMGEYEPKIEVQFPETVPTAKG
  ATVKLECFALGNPVPTIIWRRADGKPIARKARRHKSNGILEIPNFQQEDAGLYECVAENS
  RGKNVARGQLTFYAQPNWIQKINDIHVAMEENVFWECKANGRPKPTYKWLKNGEPLLTRD
  RIQIEQGTLNITIVNLSDAGMYQCLAENKHGVIFSNAELSVIAVGPDFSRTLLKRVTLVK
  VGGEVVIECKPKASPKPVYTWKKGRDILKENERITISEDGNLRIINVTKSDAGSYTCIAT
  NHFGTASSTGNLVVKDPTRVMVPPSSMDVTVGESIVLPCQVTHDHSLDIVFTWSFNGHLI
  DFDRDGDHFERVGGQDSAGDLMIRNIQLKHAGKYVCMVQTSVDRLSAAADLIVRGPPGPP
  EAVTIDEITDTTAQLSWRPGPDNHSPITMYVIQARTPFSVGWQAVSTVPELIDGKTFTAT
  VVGLNPWVEYEFRTVAANVIGIGEPSRPSEKRRTEEALPEVTPANVSGGGGSKSELVITW
  ETVPEELQNGRGFGYVVAFRPYGKMIWMLTVLASADASRYVFRNESVHPFSPFEVKVGVF
  NNKGEGPFSPTTVVYSAEEEPTKPPASIFARSLSATDIEVFWASPLEKNRGRIQGYEVKY
  WRHEDKEENARKIRTVGNQTSTKITNLKGSVLYHLAVKAYNSAGTGPSSATVNVTTRKPP
  PSQPPGNIIWNSSDSKIILNWDQVKALDNESEVKGYKVLYRWNRQSSTSVIETNKTSVEL
  SLPFDEDYIIEIKPFSDGGDGSSSEQIRIPKISNAYARGSGASTSNACTLSAISTIMISL
  TARSSL

• Sequence length: 1026

Pathways

Reactome:

Post-translational modification: synthesis of GPI-anchored proteins

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542	18349135
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
Gallbladder cancer	Malignant neoplasm of gallbladder	rs121913530, rs377767360, rs121913529, rs730882029, rs730882005, rs786202799, rs876659802, rs1057519718, rs764146326	22318345
Lip and oral cavity carcinoma	Lip and Oral Cavity Carcinoma	rs121913388, rs121912651, rs11540652, rs28934573, rs28934578, rs28933406, rs104894229, rs104894230, rs121913273, rs104894228, rs587778720, rs55832599, rs121913344, rs587782705, rs104894226, rs730882001, rs876660754, rs876660726, rs121913449, rs121913454, rs121913389, rs1057519927, rs985033810, rs868137297
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	31268507, 26198764, 28540026, 29483656, 31374203, 25056061, 30285260, 29503163, 28991256

Unknown
Disease term	Disease name	Evidence	References	Source
Chronic obstructive pulmonary disease	Chronic Obstructive Airway Disease		28044437	ClinVar
Autism Spectrum Disorder	autism spectrum disorder			GenCC
Neurodevelopmental Disorders	complex neurodevelopmental disorder			GenCC
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	33750346
Alcoholism	Associate	22205951
Attention Deficit Disorder with Hyperactivity	Associate	37120522
Autism Spectrum Disorder	Associate	18349135, 23715297
Autism Spectrum Disorder	Inhibit	37120522
Autistic Disorder	Associate	19404257, 21308999, 23715297, 24204716
Bipolar Disorder	Associate	22205951
Chromosome 3 monosomy 3p	Associate	15106122
Depressive Disorder	Associate	35907915
Developmental Disabilities	Associate	15106122, 18349135
Gastrointestinal Neoplasms	Associate	28044437
Glaucoma Open Angle	Associate	24764060
Glomerulonephritis Membranous	Associate	24345872
Intellectual Disability	Associate	18349135, 21457564, 23040932
Leiomyoma	Associate	34183386
Neoplasms	Associate	20233874, 35603200
Neuroblastoma	Associate	35902621
Neurologic Manifestations	Associate	23715297
Paraganglioma	Associate	35574028
Pulmonary Disease Chronic Obstructive	Associate	28044437
Schizophrenia	Associate	27668389