CNTNAP5 (contactin associated protein family member 5)

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Gene miRNA Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 129684
• Gene name: Contactin associated protein family member 5
• Gene symbol: CNTNAP5
• Synonyms (NCBI Gene): caspr5
• Chromosome: 2
• Chromosome location: 2q14.3
• Summary: This gene product belongs to the neurexin family, members of which function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domai

miRNA Show/Hide all (122)

miRTarBase ID	miRNA	Experiments	Reference
MIRT707179	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT707178	hsa-miR-4643	HITS-CLIP	21572407
MIRT707177	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT707176	hsa-miR-4798-3p	HITS-CLIP	21572407
MIRT707175	hsa-miR-3680-5p	HITS-CLIP	21572407
MIRT707174	hsa-miR-369-3p	HITS-CLIP	21572407
MIRT707173	hsa-miR-5692b	HITS-CLIP	21572407
MIRT707172	hsa-miR-5692c	HITS-CLIP	21572407
MIRT707171	hsa-miR-1285-5p	HITS-CLIP	21572407
MIRT707170	hsa-miR-16-1-3p	HITS-CLIP	21572407
MIRT707169	hsa-miR-4797-3p	HITS-CLIP	21572407
MIRT707168	hsa-miR-4264	HITS-CLIP	21572407
MIRT707167	hsa-miR-466	HITS-CLIP	21572407
MIRT707166	hsa-miR-374a-5p	HITS-CLIP	21572407
MIRT707165	hsa-miR-374b-5p	HITS-CLIP	21572407
MIRT707164	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT543637	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT707163	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT524411	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT524410	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT524409	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT524408	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT524407	hsa-miR-210-3p	HITS-CLIP	21572407
MIRT524406	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT524411	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT524410	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT524409	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT524408	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT524407	hsa-miR-210-3p	PAR-CLIP	21572407
MIRT524406	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT524411	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT524410	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT524408	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT543637	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT524406	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT524411	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT524410	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT524409	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT524408	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT524407	hsa-miR-210-3p	PAR-CLIP	23446348
MIRT524406	hsa-miR-574-5p	PAR-CLIP	23446348
MIRT707163	hsa-miR-1277-5p	HITS-CLIP	27418678
MIRT707163	hsa-miR-1277-5p	HITS-CLIP	27418678
MIRT543637	hsa-miR-190a-3p	HITS-CLIP	27418678
MIRT543637	hsa-miR-190a-3p	HITS-CLIP	27418678
MIRT524409	hsa-miR-223-5p	HITS-CLIP	27418678
MIRT524409	hsa-miR-223-5p	HITS-CLIP	27418678
MIRT524411	hsa-miR-5011-5p	HITS-CLIP	27418678
MIRT524411	hsa-miR-5011-5p	HITS-CLIP	27418678
MIRT524410	hsa-miR-511-3p	HITS-CLIP	27418678
MIRT524410	hsa-miR-511-3p	HITS-CLIP	27418678
MIRT524406	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT524406	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT524408	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT524408	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT707179	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT707178	hsa-miR-4643	HITS-CLIP	21572407
MIRT707177	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT707176	hsa-miR-4798-3p	HITS-CLIP	21572407
MIRT707175	hsa-miR-3680-5p	HITS-CLIP	21572407
MIRT707174	hsa-miR-369-3p	HITS-CLIP	21572407
MIRT707173	hsa-miR-5692b	HITS-CLIP	21572407
MIRT707172	hsa-miR-5692c	HITS-CLIP	21572407
MIRT707171	hsa-miR-1285-5p	HITS-CLIP	21572407
MIRT707170	hsa-miR-16-1-3p	HITS-CLIP	21572407
MIRT707169	hsa-miR-4797-3p	HITS-CLIP	21572407
MIRT707168	hsa-miR-4264	HITS-CLIP	21572407
MIRT707167	hsa-miR-466	HITS-CLIP	21572407
MIRT707166	hsa-miR-374a-5p	HITS-CLIP	21572407
MIRT707165	hsa-miR-374b-5p	HITS-CLIP	21572407
MIRT707164	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT543637	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT707163	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT524411	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT524410	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT524409	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT524408	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT524407	hsa-miR-210-3p	HITS-CLIP	21572407
MIRT524406	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT524411	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT524410	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT524409	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT524408	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT524407	hsa-miR-210-3p	PAR-CLIP	21572407
MIRT524406	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT524411	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT524410	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT524408	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT543637	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT524406	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT524411	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT524410	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT524409	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT524408	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT524407	hsa-miR-210-3p	PAR-CLIP	23446348
MIRT524406	hsa-miR-574-5p	PAR-CLIP	23446348
MIRT901899	hsa-miR-1276	CLIP-seq
MIRT901900	hsa-miR-3123	CLIP-seq
MIRT901901	hsa-miR-3180-5p	CLIP-seq
MIRT901902	hsa-miR-3617	CLIP-seq
MIRT901903	hsa-miR-4311	CLIP-seq
MIRT901904	hsa-miR-4724-5p	CLIP-seq
MIRT901905	hsa-miR-4738-3p	CLIP-seq
MIRT901906	hsa-miR-520a-5p	CLIP-seq
MIRT901907	hsa-miR-525-5p	CLIP-seq
MIRT901908	hsa-miR-567	CLIP-seq
MIRT901909	hsa-miR-583	CLIP-seq
MIRT901910	hsa-miR-641	CLIP-seq
MIRT1967533	hsa-miR-31	CLIP-seq
MIRT1967534	hsa-miR-330-3p	CLIP-seq
MIRT901902	hsa-miR-3617	CLIP-seq
MIRT901910	hsa-miR-641	CLIP-seq
MIRT2203269	hsa-miR-103a	CLIP-seq
MIRT2203270	hsa-miR-107	CLIP-seq
MIRT2203271	hsa-miR-1184	CLIP-seq
MIRT901904	hsa-miR-4724-5p	CLIP-seq
MIRT2203272	hsa-miR-4728-3p	CLIP-seq
MIRT2203273	hsa-miR-491-3p	CLIP-seq
MIRT2447418	hsa-miR-148a	CLIP-seq
MIRT2447419	hsa-miR-148b	CLIP-seq
MIRT2447420	hsa-miR-152	CLIP-seq
MIRT901905	hsa-miR-4738-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0007155	Process	Cell adhesion	IEA
GO:0016020	Component	Membrane	IEA

Other IDs

• MIM: 610519
• HGNC: 18748
• e!Ensembl: ENSG00000155052

Protein

• UniProt ID: Q8WYK1
• Protein name: Contactin-associated protein-like 5 (Cell recognition molecule Caspr5)
• Protein function: May play a role in the correct development and proper functioning of the peripheral and central nervous system and be involved in cell adhesion and intercellular communication.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00754	F5_F8_type_C	42 → 171	F5/8 type C domain	Domain
  PF02210	Laminin_G_2	209 → 338	Laminin G domain	Domain
  PF02210	Laminin_G_2	819 → 938	Laminin G domain	Domain
  PF02210	Laminin_G_2	395 → 521	Laminin G domain	Domain
  PF02210	Laminin_G_2	1044 → 1173	Laminin G domain	Domain

• Sequence:

  MDSLPRLTSVLTLLFSGLWHLGLTATNYNCDDPLASLLSPMAFSSSSDLTGTHSPAQLNW
  RVGTGGWSPADSNAQQWLQMDLGNRVEITAVATQGRYGSSDWVTSYSLMFSDTGRNWKQY
  KQEDSIWTFAGNMNADSVVHHKLLHSVRARFVRFVPLEWNPSGKIGMRVEVYGCSYKSDV
  ADFDGRSSLLYRFNQKLMSTLKDVISLKFKSMQGDGVLFHGEGQRGDHITLELQKGRLAL
  HLNLGDSKARLSSSLPSATLGSLLDDQHWHSVLIERVGKQVNFTVDKHTQHFRTKGETDA
  LDIDYELSFGGIPVPGKPGTFLKKNFHGCIENLYYNGVNIIDLAKRRKHQIYTGNVTFSC
  SEPQIVPITFVNSSGSYLLLPGTPQIDGLSVSFQFRTWNKDGLLLSTELSEGSGTLLLSL
  EGGILRLVIQKMTERVAEILTGSNLNDGLWHSVSINARRNRITLTLDDEAAPPAPDSTWV
  QIYSGNSYYFGGCPDNLTDSQCLNPIKAFQGCMRLIFIDNQPKDLISVQQGSLGNFSDLH
  IDLCSIKDRCLPNYCEHGGSCSQSWTTFYCNCSDTSYTGATCHNSIYEQSCEVYRHQGNT
  AGFFYIDSDGSGPLGPLQVYCNITEDKIWTSVQHNNTELTRVRGANPEKPYAMALDYGGS
  MEQLEAVIDGSEHCEQEVAYHCRRSRLLNTPDGTPFTWWIGRSNERHPYWGGSPPGVQQC
  ECGLDESCLDIQHFCNCDADKDEWTNDTGFLSFKDHLPVTQIVITDTDRSNSEAAWRIGP
  LRCYGDRRFWNAVSFYTEASYLHFPTFHAEFSADISFFFKTTALSGVFLENLGIKDFIRL
  EISSPSEITFAIDVGNGPVELVVQSPSLLNDNQWHYVRAERNLKETSLQVDNLPRSTRET
  SEEGHFRLQLNSQLFVGGTSSRQKGFLGCIRSLHLNGQKMDLEERAKVTSGVRPGCPGHC
  SSYGSICHNGGKCVEKHNGYLCDCTNSPYEGPFCKKEVSAVFEAGTSVTYMFQEPYPVTK
  NISLSSSAIYTDSAPSKENIALSFVTTQAPSLLLFINSSSQDFVVVLLCKNGSLQVRYHL
  NKEETHVFTIDADNFANRRMHHLKINREGRELTIQMDQQLRLSYNFSPEVEFRVIRSLTL
  GKVTENLGLDSEVAKANAMGFAGCMSSVQYNHIAPLKAALRHATVAPVTVHGTLTESSCG
  FMVDSDVNAVTTVHSSSDPFGKTDEREPLTNAVRSDSAVIGGVIAVVIFIIFCIIGIMTR
  FLYQHKQSHRTSQMKEKEYPENLDSSFRNEIDLQNTVSECKREYFI

• Sequence length: 1306

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 Show/Hide Unknown Diseases (22)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	35851147	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDER	—	GWAS catalog	37945807	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	34446935	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CNTNAP5-associated intellectual disability	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CNTNAP5-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL TREMOR	—	GWAS catalog	34982113	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	35851147	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOARDING DISORDER	—	GWAS catalog	36379924	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	35835914	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	40341939	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	29662059, 32231276, 37464041, 37985818	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOVEMENT DISORDER	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	34162658	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODIC LIMB MOVEMENT DISORDER	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	38637617	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	38757301	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	38839884	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	22885689	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	34446935	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (18)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Atrophy	Atrophy	Pubtator	26993346	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	32807774, 34553698	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	20346443		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	20346443	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	20346443		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	24387768	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32789468	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	34553698	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	21423737	Associate	★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	BEFREE	20346443		★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	Pubtator	20346443	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Angle Closure	Angle closure glaucoma	Pubtator	33737499	Associate	★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	34553698	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29662059		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	24718909		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	33737499	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	21423737, 34553698	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	29503163		★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Genes

Sort by: Blended Diseases Pathways Evidence source

PCDHA1 3 shared diseasesEssential tremor, Gastroesophageal reflux disease, Post-traumatic stress disorder 3 shared evidence sourcesGWAS catalog (Essential tremor), GWAS catalog (Gastroesophageal reflux disease), GWAS catalog (Post-traumatic stress disorder) Related via 3 shared diseases including Essential tremor, Gastroesophageal reflux disease — evidence mostly GWAS catalog. PCDHA2 3 shared diseasesEssential tremor, Gastroesophageal reflux disease, Post-traumatic stress disorder 3 shared evidence sourcesGWAS catalog (Essential tremor), GWAS catalog (Gastroesophageal reflux disease), GWAS catalog (Post-traumatic stress disorder) Related via 3 shared diseases including Essential tremor, Gastroesophageal reflux disease — evidence mostly GWAS catalog. CCDC148 3 shared diseasesMovement disorder, Periodic limb movement disorder, Willis-ekbom disease 3 shared evidence sourcesGWAS catalog (Movement disorder), GWAS catalog (Periodic limb movement disorder), GWAS catalog (Willis-ekbom disease) Related via 3 shared diseases including Movement disorder, Periodic limb movement disorder — evidence mostly GWAS catalog. LMO1 3 shared diseasesMovement disorder, Periodic limb movement disorder, Willis-ekbom disease 3 shared evidence sourcesGWAS catalog (Movement disorder), GWAS catalog (Periodic limb movement disorder), GWAS catalog (Willis-ekbom disease) Related via 3 shared diseases including Movement disorder, Periodic limb movement disorder — evidence mostly GWAS catalog. BTBD9 3 shared diseasesMovement disorder, Periodic limb movement disorder, Willis-ekbom disease 3 shared evidence sourcesGWAS catalog (Movement disorder), GWAS catalog (Periodic limb movement disorder), GWAS catalog (Willis-ekbom disease) Related via 3 shared diseases including Movement disorder, Periodic limb movement disorder — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
PCDHA1	3	["Essential tremor","Gastroesophageal reflux disease","Post-traumatic stress disorder"]	0	[]	3	["GWAS catalog (Essential tremor)","GWAS catalog (Gastroesophageal reflux disease)","GWAS catalog (Post-traumatic stress disorder)"]
PCDHA2	3	["Essential tremor","Gastroesophageal reflux disease","Post-traumatic stress disorder"]	0	[]	3	["GWAS catalog (Essential tremor)","GWAS catalog (Gastroesophageal reflux disease)","GWAS catalog (Post-traumatic stress disorder)"]
CCDC148	3	["Movement disorder","Periodic limb movement disorder","Willis-ekbom disease"]	0	[]	3	["GWAS catalog (Movement disorder)","GWAS catalog (Periodic limb movement disorder)","GWAS catalog (Willis-ekbom disease)"]
LMO1	3	["Movement disorder","Periodic limb movement disorder","Willis-ekbom disease"]	0	[]	3	["GWAS catalog (Movement disorder)","GWAS catalog (Periodic limb movement disorder)","GWAS catalog (Willis-ekbom disease)"]
BTBD9	3	["Movement disorder","Periodic limb movement disorder","Willis-ekbom disease"]	0	[]	3	["GWAS catalog (Movement disorder)","GWAS catalog (Periodic limb movement disorder)","GWAS catalog (Willis-ekbom disease)"]

Diseases Linked via Similar Genes

Colorectal cancer Linked via 2 of 5 related genesCCDC148, BTBD9 Diabetes mellitus type 2 Linked via 2 of 5 related genesLMO1, BTBD9 Bipolar disorder Linked via 1 of 5 related genesPCDHA1 Cardiovascular disease Linked via 1 of 5 related genesCCDC148 Sarcoidosis Linked via 1 of 5 related genesCCDC148

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Colorectal cancer	2	["CCDC148","BTBD9"]
Diabetes mellitus type 2	2	["LMO1","BTBD9"]
Bipolar disorder	1	["PCDHA1"]
Cardiovascular disease	1	["CCDC148"]
Sarcoidosis	1	["CCDC148"]