1. Gene
  2. CNTN2 - contactin 2 Gene

CNTN2 - contactin 2 Gene

Homo sapiens

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

Gene ID: 6900 | Gene type: protein coding

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

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)

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  • 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%

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