KEGG   Homo sapiens (human): 26047Help
Entry
26047             CDS       T01001                                 

Gene name
CNTNAP2, AUTS15, CASPR2, CDFE, NRXN4, PTHSL1
Definition
(RefSeq) contactin associated protein like 2
  KO
K07380  contactin associated protein-like 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04514  Cell adhesion molecules (CAMs)
Disease
H00756  Pitt-Hopkins syndrome
H02111  Autism
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04514 Cell adhesion molecules (CAMs)
    26047 (CNTNAP2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Laminin_G_2 Laminin_G_1 F5_F8_type_C Laminin_G_3 COLFI EGF hEGF Syndecan MARVEL
Motif
Other DBs
NCBI-GeneID: 26047
NCBI-ProteinID: NP_054860
OMIM: 604569
HGNC: 13830
Ensembl: ENSG00000174469
Vega: OTTHUMG00000152743
Pharos: Q9UHC6(Tbio)
UniProt: Q9UHC6 A0A090N7T7 B2RCH4
Position
7q35-q36.1
AA seq 1331 aa AA seqDB search
MQAAPRAGCGAALLLWIVSSCLCRAWTAPSTSQKCDEPLVSGLPHVAFSSSSSISGSYSP
GYAKINKRGGAGGWSPSDSDHYQWLQVDFGNRKQISAIATQGRYSSSDWVTQYRMLYSDT
GRNWKPYHQDGNIWAFPGNINSDGVVRHELQHPIIARYVRIVPLDWNGEGRIGLRIEVYG
CSYWADVINFDGHVVLPYRFRNKKMKTLKDVIALNFKTSESEGVILHGEGQQGDYITLEL
KKAKLVLSLNLGSNQLGPIYGHTSVMTGSLLDDHHWHSVVIERQGRSINLTLDRSMQHFR
TNGEFDYLDLDYEITFGGIPFSGKPSSSSRKNFKGCMESINYNGVNITDLARRKKLEPSN
VGNLSFSCVEPYTVPVFFNATSYLEVPGRLNQDLFSVSFQFRTWNPNGLLVFSHFADNLG
NVEIDLTESKVGVHINITQTKMSQIDISSGSGLNDGQWHEVRFLAKENFAILTIDGDEAS
AVRTNSPLQVKTGEKYFFGGFLNQMNNSSHSVLQPSFQGCMQLIQVDDQLVNLYEVAQRK
PGSFANVSIDMCAIIDRCVPNHCEHGGKCSQTWDSFKCTCDETGYSGATCHNSIYEPSCE
AYKHLGQTSNYYWIDPDGSGPLGPLKVYCNMTEDKVWTIVSHDLQMQTPVVGYNPEKYSV
TQLVYSASMDQISAITDSAEYCEQYVSYFCKMSRLLNTPDGSPYTWWVGKANEKHYYWGG
SGPGIQKCACGIERNCTDPKYYCNCDADYKQWRKDAGFLSYKDHLPVSQVVVGDTDRQGS
EAKLSVGPLRCQGDRNYWNAASFPNPSSYLHFSTFQGETSADISFYFKTLTPWGVFLENM
GKEDFIKLELKSATEVSFSFDVGNGPVEIVVRSPTPLNDDQWHRVTAERNVKQASLQVDR
LPQQIRKAPTEGHTRLELYSQLFVGGAGGQQGFLGCIRSLRMNGVTLDLEERAKVTSGFI
SGCSGHCTSYGTNCENGGKCLERYHGYSCDCSNTAYDGTFCNKDVGAFFEEGMWLRYNFQ
APATNARDSSSRVDNAPDQQNSHPDLAQEEIRFSFSTTKAPCILLYISSFTTDFLAVLVK
PTGSLQIRYNLGGTREPYNIDVDHRNMANGQPHSVNITRHEKTIFLKLDHYPSVSYHLPS
SSDTLFNSPKSLFLGKVIETGKIDQEIHKYNTPGFTGCLSRVQFNQIAPLKAALRQTNAS
AHVHIQGELVESNCGASPLTLSPMSSATDPWHLDHLDSASADFPYNPGQGQAIRNGVNRN
SAIIGGVIAVVIFTILCTLVFLIRYMFRHKGTYHTNEAKGAESAESADAAIMNNDPNFTE
TIDESKKEWLI
NT seq 3996 nt NT seq  +upstreamnt  +downstreamnt
atgcaggcggctccgcgcgccggctgcggggcagcgctcctgctgtggattgtcagcagc
tgcctctgcagagcctggacggctccctccacgtcccaaaaatgtgatgagccacttgtc
tctggactcccccatgtggctttcagcagctcctcctccatctctggtagctattctccc
ggctatgccaagataaacaagagaggaggtgctgggggatggtctccatcagacagcgac
cattatcaatggcttcaggttgactttggcaatcggaagcagatcagtgccattgcaacc
caaggaaggtatagcagctcagattgggtgacccaataccggatgctctacagcgacaca
gggagaaactggaaaccctatcatcaagatgggaatatctgggcatttcccggaaacatt
aactctgacggtgtggtccggcacgaattacagcatccgattattgcccgctatgtgcgc
atagtgcctctggattggaatggagaaggtcgcattggactcagaattgaagtttatggc
tgttcttactgggctgatgttatcaactttgatggccatgttgtattaccatatagattc
agaaacaagaagatgaaaacactgaaagatgtcattgccttgaactttaagacgtctgaa
agtgaaggagtaatcctgcacggagaaggacagcaaggagattacattaccttggaactg
aaaaaagccaagctggtcctcagtttaaacttaggaagcaaccagcttggccccatatat
ggccacacatcagtgatgacaggaagtttgctggatgaccaccactggcactctgtggtc
attgagcgccaggggcggagcattaacctcactctggacaggagcatgcagcacttccgt
accaatggagagtttgactacctggacttggactatgagataacctttggaggcatccct
ttctctggcaagcccagctccagcagtagaaagaatttcaaaggctgcatggaaagcatc
aactacaatggcgtcaacattactgatcttgccagaaggaagaaattagagccctcaaat
gtgggaaatttgagcttttcttgtgtggaaccctatacggtgcctgtctttttcaacgct
acaagttacctggaggtgcccggacggcttaaccaggacctgttctcagtcagtttccag
tttaggacatggaaccccaatggtctcctggtcttcagtcactttgcggataatttgggc
aatgtggagattgacctcactgaaagcaaagtgggtgttcacatcaacatcacacagacc
aagatgagccaaatcgatatttcctcaggttctgggttgaatgatggacagtggcacgag
gttcgcttcctagccaaggaaaattttgctattctcaccatcgatggagatgaagcatca
gcagttcgaactaatagtccccttcaagttaaaactggcgagaagtacttttttggaggt
tttctgaaccagatgaataactcaagtcactctgtccttcagccttcattccaaggatgc
atgcagctcattcaagtggacgatcaacttgtaaatttatacgaagtggcacaaaggaag
ccgggaagtttcgcgaatgtcagcattgacatgtgtgcgatcatagacagatgtgtgccc
aatcactgtgagcatggtggaaagtgctcgcaaacatgggacagcttcaaatgcacttgt
gatgagacaggatacagtggggccacctgccacaactctatctacgagccttcctgtgaa
gcctacaaacacctaggacagacatcaaattattactggatagatcctgatggcagcgga
cctctggggcctctgaaagtttactgcaacatgacagaggacaaagtgtggaccatagtg
tctcatgacttgcagatgcagacgcctgtggtcggctacaacccagaaaaatactcagtg
acacagctcgtttacagcgcctccatggaccagataagtgccatcactgacagtgccgag
tactgcgagcagtatgtctcctatttctgcaagatgtcaagattgttgaacaccccagat
ggaagcccttacacttggtgggttggcaaagccaacgagaagcactactactggggaggc
tctgggcctggaatccagaaatgtgcctgcggcatcgaacgcaactgcacagatcccaag
tactactgtaactgcgacgcggactacaagcaatggaggaaggatgctggtttcttatca
tacaaagatcacctgccagtgagccaagtggtggttggagatactgaccgtcaaggctca
gaagccaaattgagcgtaggtcctctgcgctgccaaggagacaggaattattggaatgcc
gcctctttcccaaacccatcctcctacctgcacttctctactttccaaggggaaactagc
gctgacatttctttctacttcaaaacattaaccccctggggagtgtttcttgaaaatatg
ggaaaggaagatttcatcaagctggagctgaagtctgccacagaagtgtccttttcattt
gatgtgggaaatgggccagtagagattgtagtgaggtcaccaacccctctcaacgatgac
cagtggcaccgggtcactgcagagaggaatgtcaagcaggccagcctacaggtggaccgg
ctaccgcagcagatccgcaaggccccaacagaaggccacacccgcctggagctctacagc
cagttatttgtgggtggtgctgggggccagcagggcttcctgggctgcatccgctccttg
aggatgaatggggtgacacttgacctggaggaaagagcaaaggtcacatctgggttcata
tccggatgctcgggccattgcaccagctatggaacaaactgtgaaaatggaggcaaatgc
ctagagagataccacggttactcctgcgattgctctaatactgcatatgatggaacattt
tgcaacaaagatgttggtgcattttttgaagaagggatgtggctacgatataactttcag
gcaccagcaacaaatgccagagactccagcagcagagtagacaacgctcccgaccagcag
aactcccacccggacctggcacaggaggagatccgcttcagcttcagcaccaccaaggcg
ccctgcattctcctctacatcagctccttcaccacagacttcttggcagtcctcgtcaaa
cccactggaagcttacagattcgatacaacctgggtggcacccgagagccatacaatatt
gacgtagaccacaggaacatggccaatggacagccccacagtgtcaacatcacccgccac
gagaagaccatctttctcaagctcgatcattatccttctgtgagttaccatctgccaagt
tcatccgacaccctcttcaattctcccaagtcgctctttctgggaaaagttatagaaaca
gggaaaattgaccaagagattcacaaatacaacaccccaggattcactggttgcctctcc
agagtccagttcaaccagatcgcccctctcaaggccgccttgaggcagacaaacgcctcg
gctcacgtccacatccagggcgagctggtggagtccaactgcggggcctcgccgctgacc
ctctcccccatgtcgtccgccaccgacccctggcacctggatcacctggattcagccagt
gcggattttccatataatccaggacaaggccaagctataagaaatggagtcaacagaaac
tcggctatcattggaggcgtcattgctgtggtgattttcaccatcctgtgcaccctggtc
ttcctgatccggtacatgttccgccacaagggcacctaccataccaacgaagcaaagggg
gcggagtcggcagagagcgcggacgccgccatcatgaacaacgaccccaacttcacagag
accattgatgaaagcaaaaaggaatggctcatttga

DBGET integrated database retrieval system