CNTN2 - contactin 2 Gene

Also Known as AXT; TAX; TAX1; FAME5; TAG-1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6900

About CNTN2

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:205,042,949-205,078,289 (from NCBI)

This gene has 33 transcripts (splice variants), 222 orthologues, 36 paralogues and is associated with 2 phenotypes. Biased expression in brain (RPKM 36.2) and testis (RPKM 4.9).

Summary

This gene encodes a member of the contactin family of proteins, part of the immunoglobulin superfamily of cell adhesion molecules. The encoded glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein plays a role in the proliferation, migration, and axon guidance of neurons of the developing cerebellum. A mutation in this gene may be associated with adult myoclonic epilepsy. [provided by RefSeq, Sep 2016]

CNTN2 Products (2)

mRNA Protein Name
NM_001346083.2 NP_001333012.1 contactin-2 precursor
NM_005076.5 NP_005067.1 contactin-2 precursor
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32814053 GOA
Biological Process GO Annotation Evidence References Source
involved in presynaptic membrane organization IMP
IMP: Inferred from mutant phenotype
23518707 GOA
Cellular Component GO Annotation Evidence References Source
is active in postsynaptic membrane IDA
IDA: Inferred from direct assay
26217189 GOA
is active in postsynaptic membrane IMP
IMP: Inferred from mutant phenotype
26217189 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

CNTN2 Protein Structure

Ig_2

Ig_2: Immunoglobulin domain (52 - 126)

Ig_3

Ig_3: Immunoglobulin domain (147 - 211)

I-set

I-set: Immunoglobulin I-set domain (247 - 318)

I-set

I-set: Immunoglobulin I-set domain (330 - 412)

I-set

I-set: Immunoglobulin I-set domain (431 - 505)

I-set

I-set: Immunoglobulin I-set domain (510 - 604)

fn3

fn3: Fibronectin type III domain (610 - 697)

fn3

fn3: Fibronectin type III domain (713 - 800)

fn3

fn3: Fibronectin type III domain (815 - 900)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1040 a.a.
Protein Preferred Names Protein Names

contactin-2

  • axonal glycoprotein TAG-1

Recombinant CNTN2 Proteins

Cat. No. Product Name Accession Purity
HY-P70054 Contactin-2/CNTN2 Protein, Human (HEK293, His) Q02246 (S31-N1012) ≥ 95%, as determined by reducing SDS-PAGE.

CNTN2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82230 CNTN2 Antibody (YA1975) WB, ICC/IF, FC Human, Mouse

Related Diseases

Diseases Alias
Epilepsy, Familial Adult Myoclonic, 5
  • FAME5

  • Fcmte5

  • Cortical Myoclonic Tremor With Epilepsy, Familial, 5

  • Familial Adult Myoclonic Epilepsy 5

  • Epilepsy, Myoclonic, Familial Adult, 5

  • Familial Cortical Myoclonic Tremor And Epilepsy 5

  • Familial Cortical Myoclonic Tremor With Epilepsy 5

  • Epilepsy, Myoclonic, Familial Adult, Type 5

Familial Adult Myoclonic Epilepsy
  • Benign Adult Familial Myoclonus Epilepsy

  • Bafme

  • Benign Adult Familial Myoclonic Epilepsy

  • Fame

  • Familial Cortical Myoclonic Tremor And Epilepsy

  • Fcmte

  • Adcme

  • Autosomal Dominant Cortical Myoclonus And Epilepsy

  • Fam

  • Epilepsy, Myoclonic, Familial Adult

  • Epilepsy, Myoclonic, Benign Adult Familial, Type 2

Tropical Spastic Paraparesis
  • Tropical Spastic Paraplegia

  • Ham/Tsp

  • Htlv-Associated Myelopathy

  • Tropical Spastic Paralysis

  • Htlv-1 Associated Myelopathy/Tropical Spastic Paraparesis

  • Human T-Cell Leukemia Virus Type 1 Associated Myelopathy/Tropical Spastic Paraparesis

  • Htlv-1-Associated Myelopathy/Tropical Spastic Paraparesis

  • Human T-Lymphotropic Virus Type I-Associated Myelopathy/Tropical Spastic Paraparesis

  • Human T-Lymphotropic Virus Type-1-Associated Myelopathy/Tropical Spastic Paraparesis

  • Tsp

  • Paraparesis Tropical Spastic

  • Paraparesis, Tropical Spastic

Glioblastoma
  • Glioblastoma Multiforme

  • Gbm

  • Adult Glioblastoma Multiforme

  • Grade Iv Adult Astrocytic Tumor

  • Primary Glioblastoma Multiforme

  • Spongioblastoma Multiforme

  • Adult Glioblastoma

  • Primary Glioblastoma

Myelopathy, Htlv-1-Associated
  • HAM

  • Familial Spastic Paraparesis, Htlv-1-Associated

  • Tropical Spastic Paraparesis

Adult T-Cell Leukemia/Lymphoma
  • Adult T-Cell Leukemia

  • Atll

  • Adult T-Cell Leukaemia

  • Adult T-Cell Leukaemia/Lymphoma

  • Adult T-Cell Lymphoma

  • T Cell Leukemia Lymphoma Adult

  • Leukemia-Lymphoma, Adult T-Cell

  • Leukemia, T-Cell

  • Adult T-Cell Lymphoma/Leukemia

Mild Cognitive Impairment
Non-Invasive Bladder Papillary Urothelial Neoplasm
  • Bladder Papillary Neoplasm Of Low Malignant Potential

  • Bladder Punlmp

  • Papillary Urothelial Neoplasm Of Low Malignant Potential

  • Papillary Transitional Cell Neoplasm Of Low Malignant Potential

Epilepsy
  • Epilepsy Syndrome

  • Epileptic Syndrome

  • Epilepsies

  • Symptomatic Epilepsies

  • Post Traumatic Epilepsy

  • Traumatic Epilepsy

  • Traumatic Epileptic

  • Epilepsy Due To Hippocampal Sclerosis

  • Epilepsy With Ammon'S Horn Sclerosis

  • Epilepsy Due To Cortical Dysplasia

  • Epilepsy Due To Neuronal Migration Disorders

T-Cell Acute Lymphoblastic Leukemia
  • T-Cell Leukemia

  • Acute T Cell Leukemia

  • Precursor T Lymphoblastic Leukemia

  • Precursor T-Lymphoblastic Lymphoma/Leukemia

  • T Acute Lymphoblastic Leukemia

  • T-Cell Acute Lymphocytic Leukaemia

  • T-Cell Lymphoblastic Leukemia/Lymphoma

  • Leukemia T-Cell

  • Leukemia, T-Cell

  • Leukemia, Acute, Lymphoblastic, T-Cell

  • Leukemia, T-Cell Acute Lymphoblastic

  • Leukemia, Acute T-Cell

  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

  • Precursor T-Cell Lymphoblastic Lymphoma

  • Precursor T Cell Lymphoblastic Leukemia/Lymphoblastic Lymphoma

Bladder Papillary Transitional Cell Neoplasm
  • Urinary Bladder Papillary Urothelial Neoplasm

  • Bladder Papillary Urothelial Neoplasm

Urinary Tract Papillary Transitional Cell Benign Neoplasm
  • Inverted Papilloma Of Urinary Tract

  • Papillary Transitional Cell Neoplasm Of The Urinary Tract

  • Urinary Tract Inverted Papilloma

  • Inverted Urothelial Papilloma

Tremor
  • Medicament-Induced Tremor

  • Medication-Induced Postural Tremor

T-Cell Large Granular Lymphocyte Leukemia
  • Large Granular Lymphocytic Leukemia

  • Proliferation Of Large Granular Lymphocytes

  • T-Lgl

  • T-Cell Lgl Leukemia

  • Large Granular Lymphocytic Leukaemia

  • T-Cell Large Granular Lymphocyte Leukaemia

  • Large Cell Granular Lymphogenous Leukemia

  • T-Lgl Leukemia

  • Leukemia Lymphocytic Large Granular

  • Leukemia, Large Granular Lymphocytic

Pitt-Hopkins-Like Syndrome 1
  • Cortical Dysplasia-Focal Epilepsy Syndrome

  • CDFES

  • PTHSL1

  • Cdfe Syndrome

  • Pitt-Hopkins Like Syndrome 1

  • Pitt-Hopkins-Like Syndrome-1

  • Cntnap2-Related Developmental And Epileptic Encephalopathy

  • Cntnap2-Related Dee

  • Mesh

  • D006985

  • Mesh

  • D008607

T-Cell Adult Acute Lymphocytic Leukemia
  • Acute Adult T-Cell Leukemia-Lymphoma

  • Adult Precursor T Lymphoblastic Leukemia

  • Atll

  • T-Cell Adult Acute Lymphoblastic Leukemia

Radiation Cystitis
  • Irradiation Cystitis

Chronic Inflammatory Demyelinating Polyradiculoneuropathy
  • Chronic Inflammatory Demyelinating Polyneuropathy

  • Cidp

  • Polyradiculoneuropathy Chronic Inflammatory Demyelinating

  • Polyradiculoneuropathy, Chronic Inflammatory Demyelinating

Papillary Transitional Carcinoma
  • Papillary Transitional Cell Carcinoma

Demyelinating Polyneuropathy
  • Peripheral Demyelinating Neuropathy

  • Demyelinating Peripheral Neuropathy

Immune Deficiency Disease
  • Immunodeficiency

  • Primary Immunodeficiency

  • Primary Immunodeficiency Disease

  • Immunologic Deficiency Syndromes

  • Hypoimmunity

  • Immune Deficiency Disorder

  • Immunodeficiency Syndrome

  • Immune Disorder

  • Primary Immune Deficiency Disorder

  • Immune System Diseases

  • Human Immunodeficiency Virus Infection

  • Hiv - [Human Immunodeficiency Virus Infection]

  • Hiv Positive Nos

  • Hiv Disease

  • Acquired Immune Deficiency Syndrome-Related Complex

  • Aids-Like Syndrome

  • Aids-Related Complex Nos

  • Arc - [Aids-Related Complex]

  • Immunodeficiency Due To Human Immunodeficiency Virus Infection

  • Unspecified Human Immunodeficiency Virus Disease

  • Hiv Disease Nos

  • Human Immunodeficiency Virus Positive Nos

  • Hiv Nos

  • Deficiency Of Complement Initial Pathway

  • Deficiency Of Complement Terminal Pathway

  • Cfdd - [Complement Factor D Deficiency]

  • Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

  • Nonfamilial Hypogammaglobulinaemia

  • Common Variable Immune Deficiency

  • Nonfamilial Agammaglobulinaemia

  • Common Variable Agammaglobulinaemia

  • Agammaglobulinaemia Nos

  • Agammaglobulinaemia Antibody Deficiency Syndrome

  • Hypogammaglobulinaemia Antibody Deficiency Syndrome

  • Acquired Agammaglobulinaemia Nos

  • Hypogammaglobulinaemia Nos

  • Hyper Igm

Microcephaly
  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly

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

Orthologs Information

Species Symbol Source ID
Macaca mulatta CNTN2 VGNC VGNC:71284
Bos taurus CNTN2 VGNC VGNC:27537
Mus musculus CNTN2 MGD MGI:104518
Felis catus CNTN2 VGNC VGNC:61037
Rattus norvegicus CNTN2 RGD RGD:3821
Canis familiaris CNTN2 VGNC VGNC:39433
Others CNTN2 NCBI