CNTNAP2

GENERAL INFORMATION

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Gene name

CNTNAP2

Gene description

Contactin associated protein-like 2

Protein class

Disease related genes
Plasma proteins
Predicted membrane proteins
Predicted secreted proteins

Predicted localization

Membrane,Secreted

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enriched (cerebral cortex)
GTEx:Tissue enhanced (cerebral cortex)

Protein evidence

Evidence at protein level

Protein localization

Distinct expression in CNS.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Supportive based on 1 antibody.
HPA002739
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enriched (cerebral cortex)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (cerebral cortex)

Organ

Expression



GENE INFORMATION

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Gene name

CNTNAP2 (HGNC Symbol)

Synonyms

Caspr2, KIAA0868, NRXN4

Description

Contactin associated protein-like 2 (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons, and mediates interactions between neurons and glia during nervous system development and is also involved in localization of potassium channels within differentiating axons. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It is directly bound and regulated by forkhead box protein P2 (FOXP2), a transcription factor related to speech and language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and mental retardation.[provided by RefSeq, Mar 2010]

Chromosome

7

Cytoband

Chromosome location (bp)

146116361 - 148420998

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000174469 (version 78.38)

Entrez gene

26047

UniProt

Q9UHC6 (UniProt - Evidence at protein level)

neXtProt

NX_Q9UHC6

Antibodypedia

CNTNAP2 antibodies


PROTEIN BROWSER

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ENST00000361727
 
ENST00000455301
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CNTNAP2-001 ENSP00000354778
ENST00000361727
Q9UHC6
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Show » Show » 1331 148.2 Yes 1
CNTNAP2-002 ENSP00000392208
ENST00000455301
H0Y4J0
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Show » 185 21 Yes 0