CNTP2_HUMAN » Contactin-associated protein-like 2

CNTP2_HUMAN » Contactin-associated protein-like 2
Magnify CNTP2_HUMAN » Contactin-associated protein-like 2Enlarged view of image
3D view in GLMol or JMol

gray dot

Download Coordinates

gray dot

Topology in Plasma membrane
Topologyextracellular side
cytoplasmic side
CNTP2_HUMAN » Contactin-associated protein-like 2 » Cell recognition molecule Caspr2;
Hydrophobic Thickness 35.6 ± 1.0 Å
Tilt Angle 0 ± 1°
ΔGtransfer -53.7 kcal/mol
ΔGfold -22.4 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC
Topology Out
TM Segments 1262-1287 (1261-1289)
Pathways

Cell adhesion molecules (KEGG)

PDB none
OPM none
Complexes none
Interactions none
Domains

AA: 47-178, PDBID: 1SDD, Subunit B, Seq Identity:35%, F5/8 type C domain

AA: 216-345, PDBID: 3ASI, Subunit A, Seq Identity:24%, Laminin G domain

AA: 401-529, PDBID: 1DYK, Subunit A, Seq Identity:23%, Laminin G domain

AA: 827-945, PDBID: 3ASI, Subunit A, Seq Identity:30%, Laminin G domain

AA: 1055-1187, PDBID: 1DYK, Subunit A, Seq Identity:20%, Laminin G domain

UniProt annotation for CNTP2_HUMAN » Contactin-associated protein-like 2
FUNCTION: May play a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Seems to demarcate the juxtaparanodal region of the axo-glial junction (By similarity).

SUBUNIT: Interacts (via C-terminus) with KCNA2.

TISSUE SPECIFICITY: Predominantly expressed in nervous system.

DISEASE: Cortical dysplasia-focal epilepsy syndrome (CDFES) OMIM: A disease characterized by cortical dysplasia, focal epilepsy, relative macrocephaly, and diminished deep-tendon reflexes. Intractable focal seizures begin in early childhood, after which language regression, hyperactivity, impulsive and aggressive behavior, and mental retardation develop. mutations affecting the gene represented in this entry.

DISEASE: Autism 15 (AUTS15) OMIM: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

DISEASE: Note=A chromosomal aberration involving CNTNAP2 is found in a patient with autism spectrum disorder. Paracentric inversion 46,XY,inv(7)(q11.22;q35). The inversion breakpoints disrupt the genes AUTS2 and CNTNAP2.

UniProt features for CNTP2_HUMAN » Contactin-associated protein-like 2
SIGNAL 1 27 Potential.
CHAIN 28 1331 Contactin-associated protein-like 2.
DOMAIN 35 181 F5/8 type C.
DOMAIN 216 368 Laminin G-like 1.
DOMAIN 401 552 Laminin G-like 2.
DOMAIN 554 591 EGF-like 1.
DOMAIN 592 798 Fibrinogen C-terminal.
DOMAIN 799 963 Laminin G-like 3.
DOMAIN 963 1002 EGF-like 2.
DOMAIN 1055 1214 Laminin G-like 4.
DISULFID 35 181 By similarity.
DISULFID 336 368 By similarity.
DISULFID 520 552 By similarity.
DISULFID 558 569 By similarity.
DISULFID 563 578 By similarity.
DISULFID 580 590 By similarity.
DISULFID 936 963 By similarity.
DISULFID 967 980 By similarity.
DISULFID 974 989 By similarity.
DISULFID 991 1001 By similarity.
DISULFID 1178 1214 By similarity.
Amino Acid Sequence for CNTP2_HUMAN » Contactin-associated protein-like 2
MQAAPRAGCG AALLLWIVSS CLCRAWTAPS TSQKCDEPLV SGLPHVAFSS SSSISGSYSP GYAKINKRGG AGGWSPSDSD HYQWLQVDFG NRKQISAIAT QGRYSSSDWV TQYRMLYSDT GRNWKPYHQD GNIWAFPGNI NSDGVVRHEL QHPIIARYVR IVPLDWNGEG RIGLRIEVYG CSYWADVINF DGHVVLPYRF RNKKMKTLKD VIALNFKTSE SEGVILHGEG QQGDYITLEL KKAKLVLSLN LGSNQLGPIY GHTSVMTGSL LDDHHWHSVV IERQGRSINL TLDRSMQHFR TNGEFDYLDL DYEITFGGIP FSGKPSSSSR KNFKGCMESI NYNGVNITDL ARRKKLEPSN VGNLSFSCVE PYTVPVFFNA TSYLEVPGRL NQDLFSVSFQ FRTWNPNGLL VFSHFADNLG NVEIDLTESK VGVHINITQT KMSQIDISSG SGLNDGQWHE VRFLAKENFA ILTIDGDEAS AVRTNSPLQV KTGEKYFFGG FLNQMNNSSH SVLQPSFQGC MQLIQVDDQL VNLYEVAQRK PGSFANVSID MCAIIDRCVP NHCEHGGKCS QTWDSFKCTC DETGYSGATC HNSIYEPSCE AYKHLGQTSN YYWIDPDGSG PLGPLKVYCN MTEDKVWTIV SHDLQMQTPV VGYNPEKYSV TQLVYSASMD QISAITDSAE YCEQYVSYFC KMSRLLNTPD GSPYTWWVGK ANEKHYYWGG SGPGIQKCAC GIERNCTDPK YYCNCDADYK QWRKDAGFLS YKDHLPVSQV VVGDTDRQGS EAKLSVGPLR CQGDRNYWNA ASFPNPSSYL HFSTFQGETS ADISFYFKTL TPWGVFLENM GKEDFIKLEL KSATEVSFSF DVGNGPVEIV VRSPTPLNDD QWHRVTAERN VKQASLQVDR LPQQIRKAPT EGHTRLELYS QLFVGGAGGQ QGFLGCIRSL RMNGVTLDLE ERAKVTSGFI SGCSGHCTSY GTNCENGGKC LERYHGYSCD CSNTAYDGTF CNKDVGAFFE EGMWLRYNFQ APATNARDSS SRVDNAPDQQ NSHPDLAQEE IRFSFSTTKA PCILLYISSF TTDFLAVLVK PTGSLQIRYN LGGTREPYNI DVDHRNMANG QPHSVNITRH EKTIFLKLDH YPSVSYHLPS SSDTLFNSPK SLFLGKVIET GKIDQEIHKY NTPGFTGCLS RVQFNQIAPL KAALRQTNAS AHVHIQGELV ESNCGASPLT LSPMSSATDP WHLDHLDSAS ADFPYNPGQG QAIRNGVNRN SAIIGGVIAV VIFTILCTLV FLIRYMFRHK GTYHTNEAKG AESAESADAA IMNNDPNFTE TIDESKKEWL I