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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8506
Gene name	Contactin associated protein 1
Gene symbol	CNTNAP1
Synonyms (NCBI Gene)	CASPRCHN3CNTNAPNRXN4P190
Chromosome	17
Chromosome location	17q21.2
Summary	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 (40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002175	Process	Protein localization to paranode region of axon	IEA
GO:0002175	Process	Protein localization to paranode region of axon	ISS
GO:0005515	Function	Protein binding	IPI	17474147
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007010	Process	Cytoskeleton organization	ISS
GO:0007155	Process	Cell adhesion	IEA
GO:0007165	Process	Signal transduction	TAS	9118959
GO:0007409	Process	Axonogenesis	IEA
GO:0007417	Process	Central nervous system development	IEA
GO:0016020	Component	Membrane	IEA
GO:0017124	Function	SH3 domain binding	IEA
GO:0017124	Function	SH3 domain binding	ISS
GO:0019227	Process	Neuronal action potential propagation	IEA
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	IEA
GO:0030913	Process	Paranodal junction assembly	IMP	27818385
GO:0030913	Process	Paranodal junction assembly	ISS
GO:0031175	Process	Neuron projection development	IEA
GO:0033010	Component	Paranodal junction	IEA
GO:0033270	Component	Paranode region of axon	IEA
GO:0033270	Component	Paranode region of axon	ISS
GO:0038023	Function	Signaling receptor activity	TAS	9118959
GO:0042552	Process	Myelination	IEA
GO:0048812	Process	Neuron projection morphogenesis	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:0050905	Process	Neuromuscular process	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0071205	Process	Protein localization to juxtaparanode region of axon	IEA
GO:0071205	Process	Protein localization to juxtaparanode region of axon	ISS
GO:0090128	Process	Regulation of synapse maturation	IEA
GO:0097106	Process	Postsynaptic density organization	IEA
GO:0098529	Process	Neuromuscular junction development, skeletal muscle fiber	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:1990227	Process	Paranodal junction maintenance	IEA

MIM	HGNC	e!Ensembl
602346	8011	ENSG00000108797

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 (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Arthrogryposis multiplex congenita	Pathogenic; Likely pathogenic	rs1597802927, rs1597807901	RCV000855460 RCV000855461
Arthrogryposis, distal, type 1A	Pathogenic	rs1567973091	RCV000679953
Congenital hypomyelination neuropathy with or without arthrogryposis	Likely pathogenic	rs2143676048	RCV002260551
Fetal akinesia deformation sequence 1	Pathogenic; Likely pathogenic	rs1597802927, rs1597807901	RCV000855460 RCV000855461
Lethal congenital contracture syndrome 7	Pathogenic; Likely pathogenic	rs2053168326, rs2143661323, rs2053035301, rs786204799, rs786204800, rs751050956, rs1555642784, rs746361190, rs2543806196, rs144659252	RCV001334155 RCV002226969 RCV002226998 RCV000169694 RCV000169695 RCV000186508 RCV000496980 RCV000256459 RCV004586422 RCV000853286
Neuropathy, congenital hypomyelinating, 3	Pathogenic; Likely pathogenic	rs142756549, rs751050956, rs878853221, rs768554986, rs2543793851, rs2543806196, rs1567973091, rs1567969825, rs1567973088, rs756896276	RCV004785291 RCV001813766 RCV000722098 RCV000722097 RCV003448851 RCV004586422 RCV001030776 RCV000722094 RCV000722095 RCV000722100

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Charcot-Marie-Tooth disease type 4E	Uncertain significance	rs775036363	RCV004577303
Clear cell carcinoma of kidney	Likely benign	rs141155776	RCV005929486
CNTNAP1-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	rs78630052, rs1553469, rs874640, rs199866646, rs1050654751, rs141254892, rs1199745809, rs149244708, rs369648544, rs144310425, rs373250430, rs1299341199, rs750086070, rs775278930, rs752012820 View all (7 more)	RCV004540490 RCV004540491 RCV004540492 RCV004533972 RCV004543690 RCV004531388 RCV004531471 RCV004534014 RCV004534034 RCV004540563 RCV005869884 RCV004531903 RCV004543971 RCV004544080 RCV004543914 RCV004539437 RCV004534711 RCV004531012 RCV004541879 RCV004531052 RCV004531053 RCV004533552
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs901717903	RCV004560198
Gastric cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	rs150167601, rs62001916	RCV005900084 RCV005903385
Hepatocellular carcinoma	Benign; Likely benign	rs3760385, rs62001916	RCV005921710 RCV005903384
Malignant lymphoma, large B-cell, diffuse	Benign	rs3760385	RCV005921711
Malignant tumor of esophagus	Likely benign	rs775278930	RCV005933317
Ovarian serous cystadenocarcinoma	Uncertain significance; Benign; Likely benign	rs776396855, rs62001916	RCV005930104 RCV005903386
See cases	Uncertain significance	rs2143645273	RCV002275378
Thyroid cancer, nonmedullary, 1	Likely benign	rs141352323	RCV005934801

Show/Hide Text Mining Associations (49)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)