• Gene id: 26047

Gene Summary

• Gene Symbol: CNTNAP2   Gene   UCSC   Ensembl
• Aliases: AUTS15, CASPR2, CDFE, NRXN4, PTHSL1
• Gene name: contactin associated protein 2
• Alternate names: contactin-associated protein-like 2, cell recognition molecule Caspr2, contactin associated protein like 2, homolog of Drosophila neurexin IV,
• Gene location: 7q35-q36.1 (146116206: 148420997)     Exons: 10     NC_000007.14
• Gene summary(Entrez): This gene encodes a member of the neurexin family which functions 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 domains. In add
• OMIM: 604569

Protein Summary

• Protein general information: Q9UHC6  
  • Name: Contactin associated protein like 2 (Cell recognition molecule Caspr2)
  • Length: 1331  
  • Mass: 148167
  • Tissue specificity: Predominantly expressed in nervous system. {ECO
• Sequence:

  MQAAPRAGCGAALLLWIVSSCLCRAWTAPSTSQKCDEPLVSGLPHVAFSSSSSISGSYSPGYAKINKRGGAGGWS
  PSDSDHYQWLQVDFGNRKQISAIATQGRYSSSDWVTQYRMLYSDTGRNWKPYHQDGNIWAFPGNINSDGVVRHEL
  QHPIIARYVRIVPLDWNGEGRIGLRIEVYGCSYWADVINFDGHVVLPYRFRNKKMKTLKDVIALNFKTSESEGVI
  LHGEGQQGDYITLELKKAKLVLSLNLGSNQLGPIYGHTSVMTGSLLDDHHWHSVVIERQGRSINLTLDRSMQHFR
  TNGEFDYLDLDYEITFGGIPFSGKPSSSSRKNFKGCMESINYNGVNITDLARRKKLEPSNVGNLSFSCVEPYTVP
  VFFNATSYLEVPGRLNQDLFSVSFQFRTWNPNGLLVFSHFADNLGNVEIDLTESKVGVHINITQTKMSQIDISSG
  SGLNDGQWHEVRFLAKENFAILTIDGDEASAVRTNSPLQVKTGEKYFFGGFLNQMNNSSHSVLQPSFQGCMQLIQ
  VDDQLVNLYEVAQRKPGSFANVSIDMCAIIDRCVPNHCEHGGKCSQTWDSFKCTCDETGYSGATCHNSIYEPSCE
  AYKHLGQTSNYYWIDPDGSGPLGPLKVYCNMTEDKVWTIVSHDLQMQTPVVGYNPEKYSVTQLVYSASMDQISAI
  TDSAEYCEQYVSYFCKMSRLLNTPDGSPYTWWVGKANEKHYYWGGSGPGIQKCACGIERNCTDPKYYCNCDADYK
  QWRKDAGFLSYKDHLPVSQVVVGDTDRQGSEAKLSVGPLRCQGDRNYWNAASFPNPSSYLHFSTFQGETSADISF
  YFKTLTPWGVFLENMGKEDFIKLELKSATEVSFSFDVGNGPVEIVVRSPTPLNDDQWHRVTAERNVKQASLQVDR
  LPQQIRKAPTEGHTRLELYSQLFVGGAGGQQGFLGCIRSLRMNGVTLDLEERAKVTSGFISGCSGHCTSYGTNCE
  NGGKCLERYHGYSCDCSNTAYDGTFCNKDVGAFFEEGMWLRYNFQAPATNARDSSSRVDNAPDQQNSHPDLAQEE
  IRFSFSTTKAPCILLYISSFTTDFLAVLVKPTGSLQIRYNLGGTREPYNIDVDHRNMANGQPHSVNITRHEKTIF
  LKLDHYPSVSYHLPSSSDTLFNSPKSLFLGKVIETGKIDQEIHKYNTPGFTGCLSRVQFNQIAPLKAALRQTNAS
  AHVHIQGELVESNCGASPLTLSPMSSATDPWHLDHLDSASADFPYNPGQGQAIRNGVNRNSAIIGGVIAVVIFTI
  LCTLVFLIRYMFRHKGTYHTNEAKGAESAESADAAIMNNDPNFTETIDESKKEWLI

• Structural information:
  • Protein Domains: (35..18-)
    C (/note="F5/8-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00081-)
    (216..36-)
    1 (/note="Laminin-G-like)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00122-)
    (401..55-)
    2 (/note="Laminin-G-like)
    (/evidence="ECO:0000255|PRO-)
  • Interpro: IPR029831  IPR013320  IPR000742  IPR000421  IPR036056   IPR002181  IPR008979  IPR001791  IPR003585  
  • Prosite: PS50026 PS01285 PS01286 PS50022 PS51406 PS50025
  • CDD: cd00057
  • PDB: 5Y4M
  • PDBsum: 5Y4M
  • STRING: ENSP00000354778
• Other Databases: GeneCards:  CNTNAP2  Malacards:  CNTNAP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048812	neuron projection morphogenesis	ISS	biological process
GO:0071205	protein localization to juxtaparanode region of axon	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0030673	axolemma	IDA	cellular component
GO:0030424	axon	NAS	cellular component
GO:0030425	dendrite	NAS	cellular component
GO:0021756	striatum development	IEP	biological process
GO:0021761	limbic system development	IEP	biological process
GO:0021794	thalamus development	IEP	biological process
GO:0031175	neuron projection development	ISS	biological process
GO:0035176	social behavior	IMP	biological process
GO:0035176	social behavior	IMP	biological process
GO:0045163	clustering of voltage-gated potassium channels	ISS	biological process
GO:0071109	superior temporal gyrus development	IEP	biological process
GO:0071205	protein localization to juxtaparanode region of axon	ISS	biological process
GO:0008076	voltage-gated potassium channel complex	NAS	cellular component
GO:0043025	neuronal cell body	NAS	cellular component
GO:0043204	perikaryon	NAS	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0008076	voltage-gated potassium channel complex	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0007420	brain development	TAS	biological process
GO:0042297	vocal learning	IMP	biological process
GO:0007612	learning	IMP	biological process
GO:0021987	cerebral cortex development	IEP	biological process
GO:0021987	cerebral cortex development	IEP	biological process
GO:0030534	adult behavior	IMP	biological process
GO:0044224	juxtaparanode region of axon	ISS	cellular component
GO:0071625	vocalization behavior	IMP	biological process
GO:0071625	vocalization behavior	IMP	biological process
GO:0030424	axon	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0033010	paranodal junction	IEA	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0008038	neuron recognition	NAS	biological process
GO:0019226	transmission of nerve impulse	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04514	Cell adhesion molecules

Diseases

Associated diseases	References
Autism	KEGG:H02111
Pitt-Hopkins syndrome	KEGG:H00756
Autism	KEGG:H02111
Pitt-Hopkins syndrome	KEGG:H00756
Autism spectrum disorder	PMID:18179895
Pitt-Hopkins syndrome	PMID:19896112
Intellectual disability	PMID:19896112
Visual epilepsy	PMID:19896112
autistic disorder	PMID:18179894
Reading disorder	PMID:21165691
Major depressive disorder	PMID:23123147
Articulation disorder	PMID:25895914
Mutism	PMID:21193173
Schizophrenia	PMID:23123147
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq