Gene Gene information from NCBI Gene database.
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 miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
GO ID Ontology Definition Evidence Reference
GO:0007155 Process Cell adhesion IEA
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610519 18748 ENSG00000155052
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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_2 395 521 Laminin G domain Domain
PF02210 Laminin_G_2 819 938 Laminin G domain Domain
PF02210 Laminin_G_2 1044 1173 Laminin G domain Domain
Sequence
MDSLPRLTSVLTLLFSGLWHLGLTATNYNCDDPLASLLSPMAFSSSSDLTGTHSPAQLNW
RVGTGGWSPADSNAQQWLQMDLGNRVEITAVATQGRYGSSDWVTSYSLMFSDTGRNWKQY
KQEDSIWTFAGNMNADSVVHHKLLHSVRARFVRFVPLEWNPSGKIGMRVEV
YGCSYKSDV
ADFDGRSSLLYRFNQKLMSTLKDVISLKFKSMQGDGVLFHGEGQRGDHITLELQKGRLAL
HLNLGDSKARLSSSLPSATLGSLLDDQHWHSVLIERVGKQVNFTVDKHTQHFRTKGETDA
LDIDYELSFGGIPVPGKPGTFLKKNFHGCIENLYYNGV
NIIDLAKRRKHQIYTGNVTFSC
SEPQIVPITFVNSSGSYLLLPGTPQIDGLSVSFQFRTWNKDGLLLSTELSEGSGTLLLSL
EGGILRLVIQKMTERVAEILTGSNLNDGLWHSVSINARRNRITLTLDDEAAPPAPDSTWV
QIYSGNSYYFGGCPDNLTDSQCLNPIKAFQGCMRLIFIDNQ
PKDLISVQQGSLGNFSDLH
IDLCSIKDRCLPNYCEHGGSCSQSWTTFYCNCSDTSYTGATCHNSIYEQSCEVYRHQGNT
AGFFYIDSDGSGPLGPLQVYCNITEDKIWTSVQHNNTELTRVRGANPEKPYAMALDYGGS
MEQLEAVIDGSEHCEQEVAYHCRRSRLLNTPDGTPFTWWIGRSNERHPYWGGSPPGVQQC
ECGLDESCLDIQHFCNCDADKDEWTNDTGFLSFKDHLPVTQIVITDTDRSNSEAAWRIGP
LRCYGDRRFWNAVSFYTEASYLHFPTFHAEFSADISFFFKTTALSGVFLENLGIKDFIRL
EISSPSEITFAIDVGNGPVELVVQSPSLLNDNQWHYVRAERNLKETSLQVDNLPRSTRET
SEEGHFRLQLNSQLFVGGTSSRQKGFLGCIRSLHLNGQ
KMDLEERAKVTSGVRPGCPGHC
SSYGSICHNGGKCVEKHNGYLCDCTNSPYEGPFCKKEVSAVFEAGTSVTYMFQEPYPVTK
NISLSSSAIYTDSAPSKENIALSFVTTQAPSLLLFINSSSQDFVVVLLCKNGSLQVRYHL
NKEETHVFTIDADNFANRRMHHLKINREGRELTIQMDQQLRLSYNFSPEVEFRVIRSLTL
GKVTENLGLDSEVAKANAMGFAGCMSSVQYNHI
APLKAALRHATVAPVTVHGTLTESSCG
FMVDSDVNAVTTVHSSSDPFGKTDEREPLTNAVRSDSAVIGGVIAVVIFIIFCIIGIMTR
FLYQHKQSHRTSQMKEKEYPENLDSSFRNEIDLQNTVSECKREYFI
Sequence length 1306
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
33
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CNTNAP5-associated intellectual disability Uncertain significance rs982218609 RCV001260250
CNTNAP5-related disorder Uncertain significance; Likely benign; Benign rs200361177, rs2467393598, rs2467137992, rs932717603, rs2467590777, rs367708864, rs370802996, rs200964430, rs375299973, rs779127795, rs749556691, rs200562881, rs567929192, rs200688462, rs375524808
View all (15 more)
RCV003966322
RCV003410509
RCV003397450
RCV003410857
RCV003405857
RCV003923838
RCV003929690
RCV003917323
RCV003906812
RCV003924626
RCV003939857
RCV003961459
RCV003951441
RCV003959181
RCV003927383
RCV003979092
RCV003979127
RCV003957254
RCV003935917
RCV003935802
RCV003905786
RCV003926201
RCV003955847
RCV003950372
RCV003940489
RCV003910399
RCV003955916
RCV003913033
RCV003913092
RCV003960857
Gastric cancer Likely benign rs192880351 RCV005905864
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alcohol Related Disorders Associate 34553698
Atrophy Associate 26993346
Autism Spectrum Disorder Associate 32807774, 34553698
Autistic Disorder Associate 20346443
Bipolar Disorder Associate 24387768
Carcinoma Renal Cell Associate 32789468
Developmental Disabilities Associate 34553698
Diabetes Mellitus Type 2 Associate 21423737
Dyslexia Associate 20346443
Glaucoma Angle Closure Associate 33737499