Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q8IWV2 (CNTN4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 109. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Contactin-4
Alternative name(s):
Brain-derived immunoglobulin superfamily protein 2
Short name=BIG-2
Gene names
Name:CNTN4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1026 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity. May be involved in synaptogenesis.

Subunit structure

Interacts with PTPRG. Ref.10

Subcellular location

Cell membrane; Lipid-anchorGPI-anchor. Secreted By similarity.

Tissue specificity

Mainly expressed in brain. Highly expressed in cerebellum and weakly expressed in corpus callosum, caudate nucleus, amygdala and spinal cord. Also expressed in testis, pancreas, thyroid, uterus, small intestine and kidney. Not expressed in skeletal muscle. Isoform 2 is weakly expressed in cerebral cortex. Ref.2 Ref.7

Induction

By retinoic acid, suggesting that it may act in response to differentiating agents. Ref.2

Involvement in disease

A chromosomal aberration involving CNTN4 has been found in a boy with characteristic physical features of 3p deletion syndrome (3PDS). Translocation t(3;10)(p26;q26). 3PDS is a rare contiguous gene disorder involving the loss of the telomeric portion of the short arm of chromosome 3 and characterized by developmental delay, growth retardation, and dysmorphic features. Ref.8

Sequence similarities

Belongs to the immunoglobulin superfamily. Contactin family.

Contains 4 fibronectin type-III domains.

Contains 6 Ig-like C2-type (immunoglobulin-like) domains.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8IWV2-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q8IWV2-2)

Also known as: CNTN4A;

The sequence of this isoform differs from the canonical sequence as follows:
     1-744: Missing.
Isoform 3 (identifier: Q8IWV2-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-328: Missing.
     555-555: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q8IWV2-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-328: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1818 Potential
Chain19 – 1000982Contactin-4
PRO_0000014711
Propeptide1001 – 102626Removed in mature form Potential
PRO_0000014712

Regions

Domain32 – 11786Ig-like C2-type 1
Domain122 – 20786Ig-like C2-type 2
Domain225 – 31187Ig-like C2-type 3
Domain316 – 40085Ig-like C2-type 4
Domain406 – 49388Ig-like C2-type 5
Domain497 – 58690Ig-like C2-type 6
Domain599 – 69799Fibronectin type-III 1
Domain702 – 79998Fibronectin type-III 2
Domain804 – 89996Fibronectin type-III 3
Domain900 – 99596Fibronectin type-III 4

Amino acid modifications

Lipidation10001GPI-anchor amidated serine Potential
Glycosylation651N-linked (GlcNAc...) Ref.9
Glycosylation901N-linked (GlcNAc...) Potential
Glycosylation1911N-linked (GlcNAc...) Potential
Glycosylation3701N-linked (GlcNAc...) Potential
Glycosylation3751N-linked (GlcNAc...) Potential
Glycosylation4661N-linked (GlcNAc...) Potential
Glycosylation7051N-linked (GlcNAc...) Potential
Glycosylation7641N-linked (GlcNAc...) Potential
Glycosylation8581N-linked (GlcNAc...) Potential
Glycosylation8931N-linked (GlcNAc...) Potential
Glycosylation9111N-linked (GlcNAc...) Potential
Glycosylation9291N-linked (GlcNAc...) Potential
Glycosylation9541N-linked (GlcNAc...) Potential
Disulfide bond50 ↔ 100 By similarity
Disulfide bond144 ↔ 194 By similarity
Disulfide bond247 ↔ 295 By similarity
Disulfide bond337 ↔ 384 By similarity
Disulfide bond429 ↔ 477 By similarity
Disulfide bond519 ↔ 576 By similarity

Natural variations

Alternative sequence1 – 744744Missing in isoform 2.
VSP_011961
Alternative sequence1 – 328328Missing in isoform 3 and isoform 4.
VSP_044270
Alternative sequence5551Missing in isoform 3.
VSP_011962
Natural variant1761T → P in a colorectal cancer sample; somatic mutation. Ref.11
VAR_035507
Natural variant4201K → N in a colorectal cancer sample; somatic mutation. Ref.11
VAR_035508

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2003. Version 1.
Checksum: 2B53D15665B4287B

FASTA1,026113,454
        10         20         30         40         50         60 
MRLPWELLVL QSFILCLADD STLHGPIFIQ EPSPVMFPLD SEEKKVKLNC EVKGNPKPHI 

        70         80         90        100        110        120 
RWKLNGTDVD TGMDFRYSVV EGSLLINNPN KTQDAGTYQC TATNSFGTIV SREAKLQFAY 

       130        140        150        160        170        180 
LDNFKTRTRS TVSVRRGQGM VLLCGPPPHS GELSYAWIFN EYPSYQDNRR FVSQETGNLY 

       190        200        210        220        230        240 
IAKVEKSDVG NYTCVVTNTV TNHKVLGPPT PLILRNDGVM GEYEPKIEVQ FPETVPTAKG 

       250        260        270        280        290        300 
ATVKLECFAL GNPVPTIIWR RADGKPIARK ARRHKSNGIL EIPNFQQEDA GLYECVAENS 

       310        320        330        340        350        360 
RGKNVARGQL TFYAQPNWIQ KINDIHVAME ENVFWECKAN GRPKPTYKWL KNGEPLLTRD 

       370        380        390        400        410        420 
RIQIEQGTLN ITIVNLSDAG MYQCLAENKH GVIFSNAELS VIAVGPDFSR TLLKRVTLVK 

       430        440        450        460        470        480 
VGGEVVIECK PKASPKPVYT WKKGRDILKE NERITISEDG NLRIINVTKS DAGSYTCIAT 

       490        500        510        520        530        540 
NHFGTASSTG NLVVKDPTRV MVPPSSMDVT VGESIVLPCQ VTHDHSLDIV FTWSFNGHLI 

       550        560        570        580        590        600 
DFDRDGDHFE RVGGQDSAGD LMIRNIQLKH AGKYVCMVQT SVDRLSAAAD LIVRGPPGPP 

       610        620        630        640        650        660 
EAVTIDEITD TTAQLSWRPG PDNHSPITMY VIQARTPFSV GWQAVSTVPE LIDGKTFTAT 

       670        680        690        700        710        720 
VVGLNPWVEY EFRTVAANVI GIGEPSRPSE KRRTEEALPE VTPANVSGGG GSKSELVITW 

       730        740        750        760        770        780 
ETVPEELQNG RGFGYVVAFR PYGKMIWMLT VLASADASRY VFRNESVHPF SPFEVKVGVF 

       790        800        810        820        830        840 
NNKGEGPFSP TTVVYSAEEE PTKPPASIFA RSLSATDIEV FWASPLEKNR GRIQGYEVKY 

       850        860        870        880        890        900 
WRHEDKEENA RKIRTVGNQT STKITNLKGS VLYHLAVKAY NSAGTGPSSA TVNVTTRKPP 

       910        920        930        940        950        960 
PSQPPGNIIW NSSDSKIILN WDQVKALDNE SEVKGYKVLY RWNRQSSTSV IETNKTSVEL 

       970        980        990       1000       1010       1020 
SLPFDEDYII EIKPFSDGGD GSSSEQIRIP KISNAYARGS GASTSNACTL SAISTIMISL 


TARSSL 

« Hide

Isoform 2 (CNTN4A) [UniParc].

Checksum: FC0BD80B86F9E048
Show »

FASTA28231,066
Isoform 3 [UniParc].

Checksum: 9984789B5E5334F9
Show »

FASTA69776,527
Isoform 4 [UniParc].

Checksum: BA1E4A8521B5D6FF
Show »

FASTA69876,655

References

« Hide 'large scale' references
[1]"A novel splice variant of the cell adhesion molecule contactin 4 (CNTN4) is mainly expressed in human brain."
Zeng L., Zhang C., Xu J., Ye X., Wu Q., Dai J., Ji C., Gu S., Xie Y., Mao Y.
J. Hum. Genet. 47:497-499(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
[2]"Cloning and characterization of the human neural cell adhesion molecule, CNTN4 (alias BIG-2)."
Hansford L.M., Smith S.A., Haber M., Norris M.D., Cheung B., Marshall G.M.
Cytogenet. Genome Res. 101:17-23(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, INDUCTION.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
Tissue: Testis.
[4]"The DNA sequence, annotation and analysis of human chromosome 3."
Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. expand/collapse author list , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
Tissue: Testis.
[7]"Human NB-2 of the contactin subgroup molecules: chromosomal localization of the gene (CNTN5) and distinct expression pattern from other subgroup members."
Kamei Y., Takeda Y., Teramoto K., Tsutsumi O., Taketani Y., Watanabe K.
Genomics 69:113-119(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
[8]"Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome."
Fernandez T., Morgan T., Davis N., Klin A., Morris A., Farhi A., Lifton R.P., State M.W.
Am. J. Hum. Genet. 74:1286-1293(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: CHROMOSOMAL TRANSLOCATION, INVOLVEMENT IN 3PDS.
[9]"Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D.
J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-65.
Tissue: Plasma.
[10]"The protein tyrosine phosphatases PTPRZ and PTPRG bind to distinct members of the contactin family of neural recognition molecules."
Bouyain S., Watkins D.J.
Proc. Natl. Acad. Sci. U.S.A. 107:2443-2448(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH PTPRG.
[11]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] PRO-176 AND ASN-420.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF464063 mRNA. Translation: AAN86141.1.
AY090737 mRNA. Translation: AAM00025.1.
AF549455 mRNA. Translation: AAP05786.1.
AK314396 mRNA. Translation: BAG37020.1.
AC018842 Genomic DNA. No translation available.
AC022002 Genomic DNA. No translation available.
AC022008 Genomic DNA. No translation available.
AC024057 Genomic DNA. No translation available.
AC026882 Genomic DNA. No translation available.
AC066608 Genomic DNA. No translation available.
AC087094 Genomic DNA. No translation available.
AC087427 Genomic DNA. No translation available.
CH471055 Genomic DNA. Translation: EAW63874.1.
BC026119 mRNA. Translation: AAH26119.1.
CCDSCCDS2558.1. [Q8IWV2-4]
CCDS43041.1. [Q8IWV2-1]
RefSeqNP_001193884.1. NM_001206955.1. [Q8IWV2-1]
NP_001193885.1. NM_001206956.1. [Q8IWV2-3]
NP_783200.1. NM_175607.2. [Q8IWV2-1]
NP_783302.1. NM_175613.2. [Q8IWV2-4]
UniGeneHs.298705.
Hs.626418.

3D structure databases

ProteinModelPortalQ8IWV2.
SMRQ8IWV2. Positions 25-995.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid127444. 4 interactions.
IntActQ8IWV2. 3 interactions.
STRING9606.ENSP00000380602.

PTM databases

PhosphoSiteQ8IWV2.

Polymorphism databases

DMDM55976529.

Proteomic databases

PaxDbQ8IWV2.
PRIDEQ8IWV2.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000397459; ENSP00000380600; ENSG00000144619. [Q8IWV2-4]
ENST00000397461; ENSP00000380602; ENSG00000144619. [Q8IWV2-1]
ENST00000418658; ENSP00000396010; ENSG00000144619. [Q8IWV2-1]
ENST00000427331; ENSP00000413642; ENSG00000144619. [Q8IWV2-1]
ENST00000448906; ENSP00000392077; ENSG00000144619. [Q8IWV2-4]
GeneID152330.
KEGGhsa:152330.
UCSCuc003bpb.1. human. [Q8IWV2-3]
uc003bpc.3. human. [Q8IWV2-1]
uc003bpg.3. human. [Q8IWV2-2]

Organism-specific databases

CTD152330.
GeneCardsGC03P002117.
HGNCHGNC:2174. CNTN4.
HPAHPA021068.
MIM607280. gene.
neXtProtNX_Q8IWV2.
Orphanet1620. Distal monosomy 3p.
PharmGKBPA26688.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG293951.
HOGENOMHOG000059617.
HOVERGENHBG051047.
InParanoidQ8IWV2.
KOK06762.
OMAFMLCLAD.
OrthoDBEOG7J17Z5.
PhylomeDBQ8IWV2.
TreeFamTF351103.

Gene expression databases

ArrayExpressQ8IWV2.
BgeeQ8IWV2.
CleanExHS_CNTN4.
GenevestigatorQ8IWV2.

Family and domain databases

Gene3D2.60.40.10. 10 hits.
InterProIPR003961. Fibronectin_type3.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
[Graphical view]
PfamPF00041. fn3. 2 hits.
PF07679. I-set. 5 hits.
[Graphical view]
SMARTSM00060. FN3. 4 hits.
SM00409. IG. 2 hits.
SM00408. IGc2. 4 hits.
[Graphical view]
SUPFAMSSF49265. SSF49265. 2 hits.
PROSITEPS50853. FN3. 4 hits.
PS50835. IG_LIKE. 6 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSCNTN4. human.
GeneWikiCNTN4.
GenomeRNAi152330.
NextBio86944.
PROQ8IWV2.
SOURCESearch...

Entry information

Entry nameCNTN4_HUMAN
AccessionPrimary (citable) accession number: Q8IWV2
Secondary accession number(s): B2RAX3, Q8IX14, Q8TC35
Entry history
Integrated into UniProtKB/Swiss-Prot: November 23, 2004
Last sequence update: March 1, 2003
Last modified: July 9, 2014
This is version 109 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM