CNTNAP4 (contactin associated protein family member 4)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 85445
Gene name Contactin associated protein family member 4
Gene symbol CNTNAP4
Synonyms (NCBI Gene)
CASPR4
Chromosome 16
Chromosome location 16q23.1
Summary This gene encodes a member of the neurexin protein family. Members of this family function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein contains epidermal growth factor repeats and laminin G domains. In addition,
miRNA miRNA information provided by mirtarbase database.
20
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (20)
miRTarBase ID miRNA Experiments Reference
MIRT735607 hsa-miR-34a-3p Immunohistochemistry (IHC) 32107390
MIRT901893 hsa-miR-4252 CLIP-seq
MIRT901894 hsa-miR-4474-3p CLIP-seq
MIRT901895 hsa-miR-4699-5p CLIP-seq
MIRT901896 hsa-miR-4701-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (11)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 23395182
GO:0005886 Component Plasma membrane IEA
GO:0007155 Process Cell adhesion IEA
GO:0016020 Component Membrane IEA
GO:0032225 Process Regulation of synaptic transmission, dopaminergic ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
610518 18747 ENSG00000152910
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9C0A0
Protein name Contactin-associated protein-like 4 (Cell recognition molecule Caspr4)
Protein function Presynaptic protein involved in both dopaminergic synaptic transmission and GABAergic system, thereby participating in the structural maturation of inhibitory interneuron synapses. Involved in the dopaminergic synaptic transmission by attenuatin
PDB 4NXQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00754 F5_F8_type_C 41 → 174 F5/8 type C domain Domain
PF02210 Laminin_G_2 212 → 341 Laminin G domain Domain
PF02210 Laminin_G_2 398 → 524 Laminin G domain Domain
PF02210 Laminin_G_2 821 → 940 Laminin G domain Domain
PF02210 Laminin_G_2 1046 → 1176 Laminin G domain Domain
Sequence 
MGSVTGAVLKTLLLLSTQNWNRVEAGNSYDCDDPLVSALPQASFSSSSELSSSHGPGFAR
LNRRDGAGGWSPLVSNKYQWLQIDLGERMEVTAVATQGGYGSSNWVTSYLLMFSDSGWNW
KQYRQEDSIWGFSGNANADSVVYYRLQPSIKARFLRFIPLEWNPKGRIGMRIEVFGCAYR
SEVVDLDGKSSLLYRFDQKSLSPIKDIISLKFKTMQSDGILLHREGPNGDHITLQLRRAR
LFLLINSGEAKLPSTSTLVNLTLGSLLDDQHWHSVLIQRLGKQVNFTVDEHRHHFHARGE
FNLMNLDYEISFGGIPAPGKSVSFPHRNFHGCLENLYYNGVDIIDLAKQQKPQIIAMGNV
SFSCSQPQSMPVTFLSSRSYLALPDFSGEEEVSATFQFRTWNKAGLLLFSELQLISGGIL
LFLSDGKLKSNLYQPGKLPSDITAGVELNDGQWHSVSLSAKKNHLSVAVDGQMASAAPLL
GPEQIYSGGTYYFGGCPDKSFGSKCKSPLGGFQGCMRLISISGKVVDLISVQQGSLGNFS
DLQIDSCGISDRCLPNYCEHGGECSQSWSTFHCNCTNTGYRGATCHNSIYEQSCEAYKHR
GNTSGFYYIDSDGSGPLEPFLLYCNMTETAWTIIQHNGSDLTRVRNTNPENPYAGFFEYV
ASMEQLQATINRAEHCEQEFTYYCKKSRLVNKQDGTPLSWWVGRTNETQTYWGGSSPDLQ
KCTCGLEGNCIDSQYYCNCDADRNEWTNDTGLLAYKEHLPVTKIVITDTGRLHSEAAYKL
GPLLCQGDRSFWNSASFDTEASYLHFPTFHGELSADVSFFFKTTASSGVFLENLGIADFI
RIELRSPTVVTFSFDVGNGPFEISVQSPTHFNDNQWHHVRVERNMKEASLQVDQLTPKTQ
PAPADGHVLLQLNSQLFVGGTATRQRGFLGCIRSLQLNGMTLDLEERAQVTPEVQPGCRG
HCSSYGKLCRNGGKCRERPIGFFCDCTFSAYTGPFCSNEISAYFGSGSSVIYNFQENYLL
SKNSSSHAASFHGDMKLSREMIKFSFRTTRTPSLLLFVSSFYKEYLSVIIAKNGSLQIRY
KLNKYQEPDVVNFDFKNMADGQLHHIMINREEGVVFIEIDDNRRRQVHLSSGTEFSAVKS
LVLGRILEHSDVDQDTALAGAQGFTGCLSAVQLSHVAPLKAALHPSHPDPVTVTGHVTES
SCMAQPGTDATSRERTHSFADHSGTIDDREPLANAIKSDSAVIGGLIAVVIFILLCITAI
AVRIYQQKRLYKRSEAKRSENVDSAEAVLKSELNIQNAVNENQKEYFF
Sequence length 1308
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
5
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CNTNAP4-related disorder Uncertain significance; Likely benign; Conflicting classifications of pathogenicity rs757651754, rs2509099059, rs2079454933, rs1214977180, rs112577515 RCV003410477
RCV003923981
RCV003939776
RCV003947209
RCV003976609
Show/Hide Text Mining Associations (5)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Depressive Disorder Major Associate 32398672
Glaucoma Open Angle Associate 22661486
Prostatic Neoplasms Associate 28055971
Pterygium Associate 40033254
Urethral Neoplasms Associate 32532529