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UniProtKB - Q8IWV2 (CNTN4_HUMAN)

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Protein

Contactin-4

Gene

CNTN4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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

GO - Biological processi

  • axonal fasciculation Source: UniProtKB
  • axon guidance Source: UniProtKB
  • axonogenesis Source: UniProtKB
  • brain development Source: UniProtKB
  • negative regulation of neuron differentiation Source: UniProtKB
  • nervous system development Source: UniProtKB
  • neuron cell-cell adhesion Source: UniProtKB
  • neuron projection development Source: UniProtKB
  • regulation of synaptic plasticity Source: UniProtKB
View the complete GO annotation on QuickGO ...

Keywordsi

Biological processCell adhesion

Enzyme and pathway databases

ReactomeiR-HSA-163125 Post-translational modification: synthesis of GPI-anchored proteins

Names & Taxonomyi

Protein namesi
Recommended name:
Contactin-4
Alternative name(s):
Brain-derived immunoglobulin superfamily protein 2
Short name:
BIG-2
Gene namesi
Name:CNTN4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000144619.14
HGNCiHGNC:2174 CNTN4
MIMi607280 gene
neXtProtiNX_Q8IWV2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

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.1 Publication

Organism-specific databases

DisGeNETi152330
OpenTargetsiENSG00000144619
Orphaneti1620 Distal monosomy 3p
PharmGKBiPA26688

Polymorphism and mutation databases

BioMutaiCNTN4
DMDMi55976529

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 18Sequence analysisAdd BLAST18
ChainiPRO_000001471119 – 1000Contactin-4Add BLAST982
PropeptideiPRO_00000147121001 – 1026Removed in mature formSequence analysisAdd BLAST26

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi50 ↔ 100PROSITE-ProRule annotation
Glycosylationi65N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi90N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi144 ↔ 194PROSITE-ProRule annotation
Glycosylationi191N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi247 ↔ 295PROSITE-ProRule annotation
Disulfide bondi337 ↔ 384PROSITE-ProRule annotation
Glycosylationi370N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi375N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi429 ↔ 477PROSITE-ProRule annotation
Glycosylationi466N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi519 ↔ 576PROSITE-ProRule annotation
Glycosylationi705N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi764N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi858N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi893N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi911N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi929N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi954N-linked (GlcNAc...) asparagineSequence analysis1
Lipidationi1000GPI-anchor amidated serineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein, GPI-anchor, Lipoprotein

Proteomic databases

PaxDbiQ8IWV2
PeptideAtlasiQ8IWV2
PRIDEiQ8IWV2
ProteomicsDBi70904
70905 [Q8IWV2-2]
70906 [Q8IWV2-3]

PTM databases

iPTMnetiQ8IWV2
PhosphoSitePlusiQ8IWV2

Expressioni

Tissue specificityi

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.2 Publications

Inductioni

By retinoic acid, suggesting that it may act in response to differentiating agents.1 Publication

Gene expression databases

BgeeiENSG00000144619
CleanExiHS_CNTN4
ExpressionAtlasiQ8IWV2 baseline and differential
GenevisibleiQ8IWV2 HS

Interactioni

Subunit structurei

Interacts with PTPRG.1 Publication

Protein-protein interaction databases

BioGridi127444, 4 interactors
IntActiQ8IWV2, 4 interactors
STRINGi9606.ENSP00000380602

Structurei

3D structure databases

ProteinModelPortaliQ8IWV2
SMRiQ8IWV2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini32 – 117Ig-like C2-type 1Add BLAST86
Domaini122 – 207Ig-like C2-type 2Add BLAST86
Domaini225 – 311Ig-like C2-type 3Add BLAST87
Domaini316 – 400Ig-like C2-type 4Add BLAST85
Domaini406 – 493Ig-like C2-type 5Add BLAST88
Domaini497 – 586Ig-like C2-type 6Add BLAST90
Domaini599 – 697Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST99
Domaini702 – 799Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST98
Domaini804 – 899Fibronectin type-III 3PROSITE-ProRule annotationAdd BLAST96
Domaini900 – 995Fibronectin type-III 4PROSITE-ProRule annotationAdd BLAST96

Sequence similaritiesi

Belongs to the immunoglobulin superfamily. Contactin family.Curated

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal

Phylogenomic databases

eggNOGiKOG3513 Eukaryota
ENOG410XSVG LUCA
GeneTreeiENSGT00760000118840
HOGENOMiHOG000059617
HOVERGENiHBG051047
InParanoidiQ8IWV2
KOiK06762
OMAiFIQEPSH
OrthoDBiEOG091G00X7
PhylomeDBiQ8IWV2
TreeFamiTF351103

Family and domain databases

CDDicd00063 FN3, 4 hits
Gene3Di2.60.40.10, 10 hits
InterProiView protein in InterPro
IPR033007 Contactin-4
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR013098 Ig_I-set
IPR003599 Ig_sub
IPR003598 Ig_sub2
PANTHERiPTHR43905:SF7 PTHR43905:SF7, 1 hit
PfamiView protein in Pfam
PF00041 fn3, 2 hits
PF07679 I-set, 3 hits
SMARTiView protein in SMART
SM00060 FN3, 4 hits
SM00409 IG, 6 hits
SM00408 IGc2, 5 hits
SUPFAMiSSF48726 SSF48726, 6 hits
SSF49265 SSF49265, 2 hits
PROSITEiView protein in PROSITE
PS50853 FN3, 4 hits
PS50835 IG_LIKE, 6 hits

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IWV2-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MRLPWELLVL QSFILCLADD STLHGPIFIQ EPSPVMFPLD SEEKKVKLNC 
        60         70         80         90        100
EVKGNPKPHI RWKLNGTDVD TGMDFRYSVV EGSLLINNPN KTQDAGTYQC 
       110        120        130        140        150
TATNSFGTIV SREAKLQFAY LDNFKTRTRS TVSVRRGQGM VLLCGPPPHS 
       160        170        180        190        200
GELSYAWIFN EYPSYQDNRR FVSQETGNLY IAKVEKSDVG NYTCVVTNTV 
       210        220        230        240        250
TNHKVLGPPT PLILRNDGVM GEYEPKIEVQ FPETVPTAKG ATVKLECFAL 
       260        270        280        290        300
GNPVPTIIWR RADGKPIARK ARRHKSNGIL EIPNFQQEDA GLYECVAENS 
       310        320        330        340        350
RGKNVARGQL TFYAQPNWIQ KINDIHVAME ENVFWECKAN GRPKPTYKWL 
       360        370        380        390        400
KNGEPLLTRD RIQIEQGTLN ITIVNLSDAG MYQCLAENKH GVIFSNAELS 
       410        420        430        440        450
VIAVGPDFSR TLLKRVTLVK VGGEVVIECK PKASPKPVYT WKKGRDILKE 
       460        470        480        490        500
NERITISEDG NLRIINVTKS DAGSYTCIAT NHFGTASSTG NLVVKDPTRV 
       510        520        530        540        550
MVPPSSMDVT VGESIVLPCQ VTHDHSLDIV FTWSFNGHLI DFDRDGDHFE 
       560        570        580        590        600
RVGGQDSAGD LMIRNIQLKH AGKYVCMVQT SVDRLSAAAD LIVRGPPGPP 
       610        620        630        640        650
EAVTIDEITD TTAQLSWRPG PDNHSPITMY VIQARTPFSV GWQAVSTVPE 
       660        670        680        690        700
LIDGKTFTAT VVGLNPWVEY EFRTVAANVI GIGEPSRPSE KRRTEEALPE 
       710        720        730        740        750
VTPANVSGGG GSKSELVITW ETVPEELQNG RGFGYVVAFR PYGKMIWMLT 
       760        770        780        790        800
VLASADASRY VFRNESVHPF SPFEVKVGVF NNKGEGPFSP TTVVYSAEEE 
       810        820        830        840        850
PTKPPASIFA RSLSATDIEV FWASPLEKNR GRIQGYEVKY WRHEDKEENA 
       860        870        880        890        900
RKIRTVGNQT STKITNLKGS VLYHLAVKAY NSAGTGPSSA TVNVTTRKPP 
       910        920        930        940        950
PSQPPGNIIW NSSDSKIILN WDQVKALDNE SEVKGYKVLY RWNRQSSTSV 
       960        970        980        990       1000
IETNKTSVEL SLPFDEDYII EIKPFSDGGD GSSSEQIRIP KISNAYARGS 
      1010       1020 
GASTSNACTL SAISTIMISL TARSSL
Length:1,026
Mass (Da):113,454
Last modified:March 1, 2003 - v1
Checksum:i2B53D15665B4287B
GO
Isoform 2 (identifier: Q8IWV2-2) [UniParc]FASTAAdd to basket
Also known as: CNTN4A

The sequence of this isoform differs from the canonical sequence as follows:
     1-744: Missing.

Show »
Length:282
Mass (Da):31,066
Checksum:iFC0BD80B86F9E048
GO
Isoform 3 (identifier: Q8IWV2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-328: Missing.
     555-555: Missing.

Note: No experimental confirmation available.
Show »
Length:697
Mass (Da):76,527
Checksum:i9984789B5E5334F9
GO
Isoform 4 (identifier: Q8IWV2-4) [UniParc]FASTAAdd to basket

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

Show »
Length:698
Mass (Da):76,655
Checksum:iBA1E4A8521B5D6FF
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035507176T → P in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_035508420K → N in a colorectal cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0119611 – 744Missing in isoform 2. 1 PublicationAdd BLAST744
Alternative sequenceiVSP_0442701 – 328Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST328
Alternative sequenceiVSP_011962555Missing in isoform 3. Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
CCDSiCCDS2558.1 [Q8IWV2-4]
CCDS43041.1 [Q8IWV2-1]
RefSeqiNP_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]
XP_011531727.1, XM_011533425.2 [Q8IWV2-1]
XP_011531728.1, XM_011533426.2
XP_011531729.1, XM_011533427.2 [Q8IWV2-1]
XP_011531730.1, XM_011533428.2 [Q8IWV2-1]
XP_011531731.1, XM_011533429.2 [Q8IWV2-1]
XP_011531732.1, XM_011533430.2 [Q8IWV2-1]
XP_016861271.1, XM_017005782.1 [Q8IWV2-1]
XP_016861272.1, XM_017005783.1 [Q8IWV2-1]
XP_016861273.1, XM_017005784.1 [Q8IWV2-1]
UniGeneiHs.298705
Hs.626418

Genome annotation databases

EnsembliENST00000397459; ENSP00000380600; ENSG00000144619 [Q8IWV2-4]
ENST00000397461; ENSP00000380602; ENSG00000144619 [Q8IWV2-1]
ENST00000418658; ENSP00000396010; ENSG00000144619 [Q8IWV2-1]
ENST00000427331; ENSP00000413642; ENSG00000144619 [Q8IWV2-1]
GeneIDi152330
KEGGihsa:152330
UCSCiuc003bpc.4 human [Q8IWV2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCNTN4_HUMAN
AccessioniPrimary (citable) accession number: Q8IWV2
Secondary accession number(s): B2RAX3, Q8IX14, Q8TC35
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 23, 2004
Last sequence update: March 1, 2003
Last modified: June 20, 2018
This is version 136 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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