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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	8506
Gene name Gene Name - the full gene name approved by the HGNC.	Contactin associated protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CNTNAP1
Synonyms (NCBI Gene) Gene synonyms aliases	CASPR, CHN3, CNTNAP, NRXN4, P190
Disease Acronyms (UniProt) Disease acronyms from UniProt database	CHN3
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q21.2
Summary Summary of gene provided in NCBI Entrez Gene.	The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also designated p190 or CASPR for `contactin-associated protein,` includes an extracellular domain with several putat

Show/Hide all(18)

SNP ID	Visualize variation	Clinical significance	Consequence
rs144659252	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs746361190	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs751050956	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs756896276	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs757901877	C>T	Pathogenic	Coding sequence variant, stop gained
rs761805324	C>T	Pathogenic	Coding sequence variant, missense variant
rs768554986	T>C	Pathogenic	Missense variant, coding sequence variant
rs778961637	C>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs779027563	G>C	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs786204799	->T	Pathogenic	Coding sequence variant, stop gained
rs786204800	GATA>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs878853221	G>A	Pathogenic	Coding sequence variant, stop gained
rs1131691767	A>C	Pathogenic	Splice acceptor variant
rs1555642784	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1567969825	T>C	Pathogenic	Missense variant, coding sequence variant
rs1567973088	C>T	Pathogenic	Coding sequence variant, stop gained
rs1567973091	G>A	Pathogenic	Coding sequence variant, stop gained
rs1597807901	G>A	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all(57)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021803	hsa-miR-132-3p	Microarray	17612493
MIRT901725	hsa-miR-1	CLIP-seq
MIRT901726	hsa-miR-1255a	CLIP-seq
MIRT901727	hsa-miR-1255b	CLIP-seq
MIRT901728	hsa-miR-1275	CLIP-seq
MIRT901729	hsa-miR-15a	CLIP-seq
MIRT901730	hsa-miR-15b	CLIP-seq
MIRT901731	hsa-miR-16	CLIP-seq
MIRT901732	hsa-miR-195	CLIP-seq
MIRT901733	hsa-miR-206	CLIP-seq
MIRT901734	hsa-miR-28-5p	CLIP-seq
MIRT901735	hsa-miR-3139	CLIP-seq
MIRT901736	hsa-miR-424	CLIP-seq
MIRT901737	hsa-miR-4433	CLIP-seq
MIRT901738	hsa-miR-4459	CLIP-seq
MIRT901739	hsa-miR-4487	CLIP-seq
MIRT901740	hsa-miR-4515	CLIP-seq
MIRT901741	hsa-miR-4524	CLIP-seq
MIRT901742	hsa-miR-4525	CLIP-seq
MIRT901743	hsa-miR-4665-5p	CLIP-seq
MIRT901744	hsa-miR-4723-5p	CLIP-seq
MIRT901745	hsa-miR-4768-3p	CLIP-seq
MIRT901746	hsa-miR-4782-5p	CLIP-seq
MIRT901747	hsa-miR-497	CLIP-seq
MIRT901748	hsa-miR-503	CLIP-seq
MIRT901749	hsa-miR-613	CLIP-seq
MIRT901750	hsa-miR-625	CLIP-seq
MIRT901751	hsa-miR-637	CLIP-seq
MIRT901752	hsa-miR-646	CLIP-seq
MIRT901753	hsa-miR-708	CLIP-seq
MIRT1967473	hsa-miR-1207-5p	CLIP-seq
MIRT1967474	hsa-miR-4763-3p	CLIP-seq
MIRT1967475	hsa-miR-486-3p	CLIP-seq
MIRT2203193	hsa-miR-1251	CLIP-seq
MIRT2203194	hsa-miR-3173-5p	CLIP-seq
MIRT2203195	hsa-miR-3976	CLIP-seq
MIRT2203196	hsa-miR-4684-5p	CLIP-seq
MIRT2203197	hsa-miR-4768-5p	CLIP-seq
MIRT2203198	hsa-miR-4793-3p	CLIP-seq
MIRT2203199	hsa-miR-518d-5p	CLIP-seq
MIRT2203200	hsa-miR-519b-5p	CLIP-seq
MIRT2203201	hsa-miR-519c-5p	CLIP-seq
MIRT2203202	hsa-miR-520c-5p	CLIP-seq
MIRT2203203	hsa-miR-526a	CLIP-seq
MIRT2386323	hsa-miR-4436a	CLIP-seq
MIRT2386324	hsa-miR-4700-3p	CLIP-seq
MIRT2427392	hsa-miR-1207-3p	CLIP-seq
MIRT2427393	hsa-miR-1273f	CLIP-seq
MIRT2427394	hsa-miR-2277-3p	CLIP-seq
MIRT2427395	hsa-miR-4756-3p	CLIP-seq
MIRT901752	hsa-miR-646	CLIP-seq
MIRT2506151	hsa-miR-3173-3p	CLIP-seq
MIRT2506152	hsa-miR-3177-5p	CLIP-seq
MIRT2506153	hsa-miR-4779	CLIP-seq
MIRT2506154	hsa-miR-593	CLIP-seq
MIRT2506152	hsa-miR-3177-5p	CLIP-seq
MIRT2506154	hsa-miR-593	CLIP-seq

Show/Hide all(22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002175	Process	Protein localization to paranode region of axon	ISS
GO:0005515	Function	Protein binding	IPI	17474147
GO:0005887	Component	Integral component of plasma membrane	TAS	9118959
GO:0007010	Process	Cytoskeleton organization	ISS
GO:0007155	Process	Cell adhesion	IEA
GO:0007165	Process	Signal transduction	TAS	9118959
GO:0016021	Component	Integral component of membrane	ISS
GO:0017124	Function	SH3 domain binding	ISS
GO:0019227	Process	Neuronal action potential propagation	ISS
GO:0022010	Process	Central nervous system myelination	IMP	28374019
GO:0022011	Process	Myelination in peripheral nervous system	IMP	24319099, 27818385, 28374019
GO:0030913	Process	Paranodal junction assembly	IMP	27818385
GO:0030913	Process	Paranodal junction assembly	ISS
GO:0033010	Component	Paranodal junction	IEA
GO:0033270	Component	Paranode region of axon	ISS
GO:0038023	Function	Signaling receptor activity	TAS	9118959
GO:0048787	Component	Presynaptic active zone membrane	IEA
GO:0048812	Process	Neuron projection morphogenesis	IMP	24319099, 27818385
GO:0048812	Process	Neuron projection morphogenesis	ISS
GO:0050884	Process	Neuromuscular process controlling posture	IEA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0071205	Process	Protein localization to juxtaparanode region of axon	ISS

MIM	HGNC	e!Ensembl
602346	8011	ENSG00000108797

Protein

UniProt ID

P78357

Protein name

Contactin-associated protein 1 (Caspr) (Caspr1) (Neurexin IV) (Neurexin-4) (p190)

Protein function

Required, with CNTNAP2, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the par

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00754	F5_F8_type_C	37 → 165	F5/8 type C domain	Domain
PF02210	Laminin_G_2	203 → 332	Laminin G domain	Domain
PF02210	Laminin_G_2	389 → 515	Laminin G domain	Domain
PF02210	Laminin_G_2	813 → 939	Laminin G domain	Domain
PF02210	Laminin_G_2	1088 → 1218	Laminin G domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Predominantly expressed in brain. Weak expression detected in ovary, pancreas, colon, lung, heart, intestine and testis.

Sequence

MMHLRLFCILLAAVSGAEGWGYYGCDEELVGPLYARSLGASSYYSLLTAPRFARLHGISG
WSPRIGDPNPWLQIDLMKKHRIRAVATQGSFNSWDWVTRYMLLYGDRVDSWTPFYQRGHN
STFFGNVNESAVVRHDLHFHFTARYIRIVPLAWNPRGKIGLRLGLYGCPYKADILYFDGD
DAISYRFPRGVSRSLWDVFAFSFKTEEKDGLLLHAEGAQGDYVTLELEGAHLLLHMSLGS
SPIQPRPGHTTVSAGGVLNDQHWHYVRVDRFGRDVNFTLDGYVQRFILNGDFERLNLDTE
MFIGGLVGAARKNLAYRHNFRGCIENVIFNRVNIADLAVRRHSRITFEGKVAFRCLDPVP
HPINFGGPHNFVQVPGFPRRGRLAVSFRFRTWDLTGLLLFSRLGDGLGHVELTLSEGQVN
VSIAQSGRKKLQFAAGYRLNDGFWHEVNFVAQENHAVISIDDVEGAEVRVSYPLLIRTGT
SYFFGGCPKPASRWDCHSNQTAFHGCMELLKVDGQLVNLTLVEGRRLGFYAEVLFDTCGI
TDRCSPNMCEHDGRCYQSWDDFICYCELTGYKGETCHTPLYKESCEAYRLSGKTSGNFTI
DPDGSGPLKPFVVYCDIRENRAWTVVRHDRLWTTRVTGSSMERPFLGAIQYWNASWEEVS
ALANASQHCEQWIEFSCYNSRLLNTAGGYPYSFWIGRNEEQHFYWGGSQPGIQRCACGLD
RSCVDPALYCNCDADQPQWRTDKGLLTFVDHLPVTQVVIGDTNRSTSEAQFFLRPLRCYG
DRNSWNTISFHTGAALRFPPIRANHSLDVSFYFRTSAPSGVFLENMGGPYCQWRRPYVRV
ELNTSRDVVFAFDVGNGDENLTVHSDDFEFNDDEWHLVRAEINVKQARLRVDHRPWVLRP
MPLQTYIWMEYDQPLYVGSAELKRRPFVGCLRAMRLNGVTLNLEGRANASEGTSPNCTGH
CAHPRLPCFHGGRCVERYSYYTCDCDLTAFDGPYCNHDIGGFFEPGTWMRYNLQSALRSA
AREFSHMLSRPVPGYEPGYIPGYDTPGYVPGYHGPGYRLPDYPRPGRPVPGYRGPVYNVT
GEEVSFSFSTSSAPAVLLYVSSFVRDYMAVLIKDDGTLQLRYQLGTSPYVYQLTTRPVTD
GQPHSINITRVYRNLFIQVDYFPLTEQKFSLLVDSQLDSPKALYLGRVMETGVIDPEIQR
YNTPGFSGCLSGVRFNNVAPLKTHFRTPRPMTAELAEALRVQGELSESNCGAMPRLVSEV
PPELDPWYLPPDFPYYHDEGWVAILLGFLVAFLLLGLVGMLVLFYLQNHRYKGSYHTNEP
KAAHEYHPGSKPPLPTSGPAQVPTPTAAPNQAPASAPAPAPTPAPAPGPRDQNLPQILEE
SRSE

Sequence length

1384

Interactions

View interactions

	KEGG
	Cell adhesion molecules

Show/Hide Causal Diseases (13)

Disease term	Disease name	dbSNP ID	References
Causal
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835 View all (138 more)
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451 View all (71 more)	29059683
Congenital muscular dystrophy	Congenital muscular dystrophy (disorder)	rs1565627745, rs774985604, rs1565629479, rs121913572, rs121913575, rs121913576, rs58932704, rs58912633, rs121912495, rs121912496, rs60458016, rs387906881, rs750764003, rs387907068, rs786205117 View all (45 more)
Distal arthrogryposis	ARTHROGRYPOSIS, DISTAL, TYPE 1	rs121434638, rs104894127, rs104894129, rs137853305, rs137853306, rs199476153, rs199476147, rs121913619, rs879255230, rs387906657, rs387906658, rs199474721, rs587776917, rs587776918, rs587776919 View all (41 more)
Hemangioma	Hemangioma	rs121917766	27668699
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546	27668699
Lethal congenital contracture syndrome	LETHAL CONGENITAL CONTRACTURE SYNDROME 7	rs121908315, rs386833693, rs121434407, rs1565859132, rs786204798, rs786204799, rs786204800, rs749355583, rs793888524, rs793888525, rs751050956, rs1555642784, rs746361190, rs886041056, rs764239923 View all (10 more)	27782105, 27668699, 28374019, 24319099, 28254648
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166 View all (81 more)
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151	27668699
Neuropathy	NEUROPATHY, CONGENITAL HYPOMYELINATING, 3	rs121913593, rs121913595, rs751050956, rs878853221, rs768554986, rs1553259568, rs1567973091, rs1560046845, rs1567969825, rs1567973088, rs756896276	28374019, 29511323, 27818385, 27668699
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)	27668699
Spinal muscular atrophy	Spinal Muscular Atrophy	rs104893922, rs1554066397, rs77804083, rs104893930, rs104893927, rs104893935, rs387906738, rs398123028, rs371707778, rs398123030, rs587780564, rs713993043, rs727505393, rs797044855, rs863223361 View all (22 more)

Show/Hide Unknown Diseases (5)

Disease term	Disease name	Evidence	References	Source
Unknown
Mental depression	Major Depressive Disorder		27777418	ClinVar
Ptosis	Blepharoptosis, Ptosis		27668699	ClinVar
Hypomyelination Neuropathy-Arthrogryposis Syndrome	hypomyelination neuropathy-arthrogryposis syndrome			GenCC
Mental Depression	Mental Depression			GWAS
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA

Show/Hide Text Mining Associations (49)

Disease Name	Relationship Type	References
Associations from Text Mining
Acute Disease	Associate	8756076
Adenocarcinoma of Lung	Associate	36114746
Agnosia	Associate	1932753
Arthrogryposis	Associate	27782105, 28254648, 29882456, 33820833
Astrocytoma	Associate	18670637
Autistic Disorder	Associate	21308999
Blast Crisis	Associate	32052899, 35456386
Blast Injuries	Associate	15949566
Bone Diseases Developmental	Associate	33820833
Carcinoma Renal Cell	Associate	35023290
Charcot Marie Tooth disease Type 2E	Associate	26109717
Charcot Marie Tooth disease Type 4E	Associate	27668699, 27782105, 27818385, 29511323, 35058287
Contracture	Associate	29511323
Death	Associate	29511323
Demyelinating Autoimmune Diseases CNS	Associate	29511323
Demyelinating Diseases	Associate	27782105, 29511323, 29882456
Developmental Disabilities	Associate	29511323
Dyslexia	Associate	27484312
Dystonia	Associate	29511323
Facial Nerve Diseases	Associate	29511323
Foot Deformities	Associate	27782105
Gastroesophageal Reflux	Associate	29511323
Genetic Diseases Inborn	Associate	27616481
Heart Diseases	Associate	29511323
Hematologic Neoplasms	Associate	19135771
Hepatitis B	Associate	32859541
Intellectual Disability	Associate	29511323
Leukemia	Associate	7756172
Leukemia Lymphocytic Chronic B Cell	Associate	8756076
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	10794714, 15949566, 32052899, 35456386, 8562932, 8652835, 8756076, 9827937, 9858221
Leukemia Myeloid Acute	Associate	32859541, 8562932, 9266939
Leukemia T Cell	Associate	9266939
Muscle Hypotonia	Associate	27782105
Myelocytic leukemia like syndrome familial chronic	Associate	8562932
Myelodysplastic Syndromes	Associate	9266939
Neoplasms	Associate	31659097
Neurodegenerative Diseases	Associate	29882456
Pain	Associate	35359983
Peripheral Nervous System Diseases	Associate	27616481
Philadelphia Chromosome	Associate	15039277, 18932238, 1932753, 28111465, 35456386
Polyhydramnios	Associate	29511323
Polyradiculoneuropathy	Associate	29882456
Polyradiculoneuropathy Chronic Inflammatory Demyelinating	Associate	35359983
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	11861265, 28111465, 33769465, 33823073, 8652835, 9116308, 9233586
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Stimulate	32052899
Respiratory Insufficiency	Associate	29511323
Retrograde Degeneration	Associate	27782105
Tremor	Associate	35359983
Vocal Cord Paralysis	Associate	29511323

CNTNAP1 (contactin associated protein 1)