Q8IWV2 (CNTN4_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 98.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Contactin-4 Alternative name(s): Brain-derived immunoglobulin superfamily protein 2 Short name=BIG-2 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Reference proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1026 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence 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. |
| Subcellular location | Cell membrane; Lipid-anchor › GPI-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. |
Ontologies
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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 18 | 18 | Potential | ||||||||
| Chain | 19 – 1000 | 982 | Contactin-4 | PRO_0000014711 | |||||||
| Propeptide | 1001 – 1026 | 26 | Removed in mature form Potential | PRO_0000014712 | |||||||
Regions | |||||||||||
| Domain | 32 – 117 | 86 | Ig-like C2-type 1 | ||||||||
| Domain | 122 – 207 | 86 | Ig-like C2-type 2 | ||||||||
| Domain | 225 – 311 | 87 | Ig-like C2-type 3 | ||||||||
| Domain | 316 – 400 | 85 | Ig-like C2-type 4 | ||||||||
| Domain | 406 – 493 | 88 | Ig-like C2-type 5 | ||||||||
| Domain | 497 – 586 | 90 | Ig-like C2-type 6 | ||||||||
| Domain | 596 – 692 | 97 | Fibronectin type-III 1 | ||||||||
| Domain | 699 – 797 | 99 | Fibronectin type-III 2 | ||||||||
| Domain | 801 – 896 | 96 | Fibronectin type-III 3 | ||||||||
| Domain | 901 – 990 | 90 | Fibronectin type-III 4 | ||||||||
Amino acid modifications | |||||||||||
| Lipidation | 1000 | 1 | GPI-anchor amidated serine Potential | ||||||||
| Glycosylation | 65 | 1 | N-linked (GlcNAc...) Ref.9 | ||||||||
| Glycosylation | 90 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 191 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 370 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 375 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 466 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 705 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 764 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 858 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 893 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 911 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 929 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 954 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 50 ↔ 100 | By similarity | |||||||||
| Disulfide bond | 144 ↔ 194 | By similarity | |||||||||
| Disulfide bond | 247 ↔ 295 | By similarity | |||||||||
| Disulfide bond | 337 ↔ 384 | By similarity | |||||||||
| Disulfide bond | 429 ↔ 477 | By similarity | |||||||||
| Disulfide bond | 519 ↔ 576 | By similarity | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 1 – 744 | 744 | Missing in isoform 2. | VSP_011961 | |||||||
| Alternative sequence | 1 – 328 | 328 | Missing in isoform 3 and isoform 4. | VSP_044270 | |||||||
| Alternative sequence | 555 | 1 | Missing in isoform 3. | VSP_011962 | |||||||
| Natural variant | 176 | 1 | T → P in a colorectal cancer sample; somatic mutation. Ref.10 | VAR_035507 | |||||||
| Natural variant | 420 | 1 | K → N in a colorectal cancer sample; somatic mutation. Ref.10 | VAR_035508 | |||||||
Sequences
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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. 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. 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. 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, MASS SPECTROMETRY. Tissue: Plasma. |
| [10] | "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. 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. |
| IPI | IPI00178854. IPI00479016. IPI00744041. |
| RefSeq | NP_001193884.1. NM_001206955.1. NP_001193885.1. NM_001206956.1. NP_783200.1. NM_175607.2. NP_783302.1. NM_175613.2. |
| UniGene | Hs.298705. Hs.626418. |
3D structure databases | |
| ProteinModelPortal | Q8IWV2. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q8IWV2. 3 interactions. |
| STRING | 9606.ENSP00000380602. |
PTM databases | |
| PhosphoSite | Q8IWV2. |
Polymorphism databases | |
| DMDM | 55976529. |
Proteomic databases | |
| PaxDb | Q8IWV2. |
| PRIDE | Q8IWV2. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000397459; ENSP00000380600; ENSG00000144619. ENST00000397461; ENSP00000380602; ENSG00000144619. ENST00000418658; ENSP00000396010; ENSG00000144619. ENST00000427331; ENSP00000413642; ENSG00000144619. ENST00000448906; ENSP00000392077; ENSG00000144619. |
| GeneID | 152330. |
| KEGG | hsa:152330. |
| UCSC | uc003bpb.1. human. uc003bpc.3. human. uc003bpg.3. human. |
Organism-specific databases | |
| CTD | 152330. |
| GeneCards | GC03P002117. |
| HGNC | HGNC:2174. CNTN4. |
| HPA | HPA021068. |
| MIM | 607280. gene. |
| neXtProt | NX_Q8IWV2. |
| Orphanet | 1620. Distal monosomy 3p. |
| PharmGKB | PA26688. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG293951. |
| HOGENOM | HOG000059617. |
| HOVERGEN | HBG051047. |
| InParanoid | Q8IWV2. |
| KO | K06762. |
| OMA | IEQGTLN. |
| OrthoDB | EOG48GW2G. |
Gene expression databases | |
| ArrayExpress | Q8IWV2. |
| Bgee | Q8IWV2. |
| CleanEx | HS_CNTN4. |
| Genevestigator | Q8IWV2. |
| GermOnline | ENSG00000144619. Homo sapiens. |
Family and domain databases | |
| Gene3D | 2.60.40.10. 10 hits. |
| InterPro | IPR003961. Fibronectin_type3. IPR007110. Ig-like_dom. IPR013783. Ig-like_fold. IPR013098. Ig_I-set. IPR003599. Ig_sub. IPR003598. Ig_sub2. [Graphical view] |
| Pfam | PF00041. fn3. 2 hits. PF07679. I-set. 5 hits. [Graphical view] |
| SMART | SM00060. FN3. 4 hits. SM00409. IG. 2 hits. SM00408. IGc2. 4 hits. [Graphical view] |
| SUPFAM | SSF49265. FN_III-like. 4 hits. |
| PROSITE | PS50853. FN3. 4 hits. PS50835. IG_LIKE. 6 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | CNTN4. human. |
| GenomeRNAi | 152330. |
| NextBio | 86944. |
| SOURCE | Search... |
Entry information
| Entry name | CNTN4_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8IWV2 Secondary accession number(s): B2RAX3, Q8IX14, Q8TC35 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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
| Human chromosome 3 Human chromosome 3: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
