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CNTN4 - contactin 4 Gene

Also Known as AXCAM; BIG-2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 152330

About CNTN4

Cytogenetic location: 3p26.3-p26.2 Genomic coordinates (GRCh38): 3:2,098,866-3,057,959 (from NCBI)

This gene has 17 transcripts (splice variants), 209 orthologues and 36 paralogues. Broad expression in endometrium (RPKM 2.7), thyroid (RPKM 2.4) and 21 other tissues.

Summary

This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded protein is a glycosylphosphatidylinositol-anchored neuronal membrane protein that may play a role in the formation of axon connections in the developing nervous system. Deletion or mutation of this gene may play a role in 3p deletion syndrome and autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]

CNTN4 Products (5)

mRNA	Protein	Name
NM_001206955.2	NP_001193884.1	contactin-4 isoform a precursor
NM_001206956.2	NP_001193885.1	contactin-4 isoform d
NM_001350095.2	NP_001337024.1	contactin-4 isoform a precursor
NM_175607.3	NP_783200.1	contactin-4 isoform a precursor
NM_175613.3	NP_783302.1	contactin-4 isoform c

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of neuron differentiation	IMP IMP: Inferred from mutant phenotype	14571131	GOA
involved in nervous system development	IMP IMP: Inferred from mutant phenotype	15106122	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CNTN4 Protein Structure

I-set

Ig_2

fn3

0
200
400
600
800
1026 a.a.

Protein Preferred Names	Protein Names
contactin-4	axonal-associated cell adhesion molecule

Recombinant CNTN4 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76277	CNTN4/Contactin-4 Protein, Human (sf9, His)	Q8IWV2-1 (D19-S1000)	≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Chromosome 3pter-P25 Deletion Syndrome	3p- Syndrome 3p Deletion Syndrome Distal Monosomy 3p Chromosome 3, Monosomy 3p 3p Partial Monosomy Syndrome Chromosome 3, Deletion 3p Chromosome 3p Deletion Syndrome Del Syndrome Deletion 3p Monosomy 3p Partial Monosomy 3p Distal 3p Deletion Monosomy 3pter Telomeric Monosomy 3p Chromosome Deletion Syndrome 3pter-P25
Cerebellar Angioblastoma	Hemangioblastoma Of Cerebellum Cerebellar Hemangioblastoma
Coffin-Siris Syndrome 6	CSS6 Coffin-Siris Syndrome, Type 6
Spinocerebellar Ataxia 15	SCA15 Spinocerebellar Ataxia Type 15 Spinocerebellar Ataxia Type 16 Sca16 Spinocerebellar Ataxia Type 15/16 Spinocerebellar Ataxia 16, Formerly Sca16, Formerly Spinocerebellar Ataxia 16 Sca15/16 Ataxia, Spinocerebellar, Type 15
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Spinocerebellar Ataxia 25	Spinocerebellar Ataxia Type 25 SCA25
Chromosome 16p11.2 Deletion Syndrome	Distal 16p11.2 Microdeletion Syndrome 16p11.2 Deletion Syndrome Del(16)(P11.2) Microdeletion 16p11.2 Monosomy 16p11.2 Autism, Susceptibility To, 14a Auts14a Distal Del(16)(P11.2) Distal Monosomy 16p11.2
Spinocerebellar Ataxia 21	Spinocerebellar Ataxia Type 21 SCA21 Ataxia, Spinocerebellar, Type 21
Chromosome 15q11.2 Deletion Syndrome	15q11.2 Microdeletion Syndrome 15q11.2 Bp1-Bp2 Microdeletion Syndrome Del(15)(Q11.2) Monosomy 15q11.2 15q11.2 Microdeletion Chromosome 15q11.2 Deletion Chromosome 15q11.2 Microdeletion Chromosome Deletion Syndrome 15q11.2 Microdeletion 15q11.2 Duplication 15q11-Q13 Syndrome
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Chromosomal Deletion Syndrome
Pervasive Developmental Disorder	Pervasive Development Disorder Pervasive Developmental Disorders Pervasive Child Development Disorders Autistic Behavior Autism Spectrum Disorders
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Attention Deficit-Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder ADHD Attention Deficit Disorder Attention Deficit-Hyperactivity Disorder, Susceptibility To Attention Deficit Disorder With Hyperactivity Hyperkinetic Disorder Hyperactivity Of Childhood Attention-Deficit/Hyperactivity Disorder Add Addh Attention Deficit Attention Deficit Disorder Of Childhood With Hyperactivity Attention Deficit Disorder With Hyperactivity Syndrome Hyperkinetic Syndrome Attention-Deficit Hyperactivity Disorder Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type Disturbance Of Activity And Attention Disorder Of Activity And Attention Adhd - [Attention Deficit Hyperactivity Disorder] Hyperkinetic Disorders Disorder Of Activity And Attention With Hyperkinesia Attention Deficit Syndrome With Hyperactivity
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS18992	Cntn4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS02929	CNTN4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25481	Cntn4 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Bioactive MoleculesInhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P992356	GENA-104A16	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CNTN4	VGNC	VGNC:52754
Mus musculus	CNTN4	MGD	MGI:1095737
Rattus norvegicus	CNTN4	RGD	RGD:621361
Canis familiaris	CNTN4	VGNC	VGNC:39435
Macaca mulatta	CNTN4	VGNC	VGNC:84198
Felis catus	CNTN4	VGNC	VGNC:78408
Others	CNTN4	NCBI