CNTNAP2 - contactin associated protein 2 Gene

Also Known as CDFE; NRXN4; AUTS15; CASPR2; PTHSL1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 26047

About CNTNAP2

Cytogenetic location: 7q35-q36.1 Genomic coordinates (GRCh38): 7:146,116,801-148,420,998 (from NCBI)

This gene has 24 transcripts (splice variants), 1 gene allele, 298 orthologues, 35 paralogues and is associated with 114 phenotypes. Biased expression in brain (RPKM 12.9), prostate (RPKM 4.1) and 7 other tissues.

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, 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 intellectual disability. [provided by RefSeq, Jul 2017]

CNTNAP2 Products (1)

mRNA Protein Name
NM_014141.6 NP_054860.1 contactin-associated protein-like 2 precursor
Molecular Function GO Annotation Evidence References Source
enables enzyme binding IPI
IPI: Inferred from physical interaction
19166515 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
22872700 GOA
Biological Process GO Annotation Evidence References Source
involved in adult behavior IMP
IMP: Inferred from mutant phenotype
18179893 GOA
involved in cell population proliferation IDA
IDA: Inferred from direct assay
29028946 GOA
involved in cerebral cortex development IEP
IEP: Inferred from expression pattern
18179893 GOA
involved in learning IMP
IMP: Inferred from mutant phenotype
18179893 GOA
involved in limbic system development IEP
IEP: Inferred from expression pattern
18179895 GOA
involved in positive regulation of gap junction assembly IMP
IMP: Inferred from mutant phenotype
33238150 GOA
involved in social behavior IMP
IMP: Inferred from mutant phenotype
18179893 GOA
involved in striatum development IEP
IEP: Inferred from expression pattern
18179893 GOA
involved in superior temporal gyrus development IEP
IEP: Inferred from expression pattern
18179893 GOA
involved in thalamus development IEP
IEP: Inferred from expression pattern
18179893 GOA
involved in vocal learning IMP
IMP: Inferred from mutant phenotype
19896112 GOA
involved in vocalization behavior IMP
IMP: Inferred from mutant phenotype
18179893 GOA
Cellular Component GO Annotation Evidence References Source
located in Golgi apparatus IDA
IDA: Inferred from direct assay
19166515 GOA
located in axolemma IDA
IDA: Inferred from direct assay
19706678 GOA
located in cell surface IDA
IDA: Inferred from direct assay
19706678 GOA
located in early endosome IDA
IDA: Inferred from direct assay
19706678 GOA
located in membrane IDA
IDA: Inferred from direct assay
10624965 GOA
part of voltage-gated potassium channel complex IDA
IDA: Inferred from direct assay
10624965 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

CNTNAP2 Protein Structure

F5_F8_type_C

F5_F8_type_C: F5/8 type C domain (49 - 178)

Laminin_G_2

Laminin_G_2: Laminin G domain (216 - 344)

Laminin_G_2

Laminin_G_2: Laminin G domain (401 - 529)

EGF

EGF: EGF-like domain (558 - 588)

Laminin_G_2

Laminin_G_2: Laminin G domain (827 - 944)

Laminin_G_2

Laminin_G_2: Laminin G domain (1055 - 1186)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1331 a.a.
Protein Preferred Names Protein Names

contactin-associated protein-like 2

  • cell recognition molecule Caspr2

CNTNAP2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CNTNAP2 Q9UHC6 POLR2G Homo sapiens P62487 32296183
Intra
CNTNAP2 Q9UHC6 POLR2G Homo sapiens P62487 32296183
Intra
CNTNAP2 Q9UHC6 CNTN1 Homo sapiens Q12860
BLI
26721881
Intra
CNTNAP2 Q9UHC6 CNTN1 Homo sapiens Q12860 26721881
Intra
CNTNAP2 Q9UHC6 GORASP2 Homo sapiens Q9H8Y8 32296183
Intra
CNTNAP2 Q9UHC6 GORASP2 Homo sapiens Q9H8Y8 32296183
Intra
CNTNAP2 Q9UHC6 MEOX2 Homo sapiens P50222 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

CNTNAP2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P83225 Caspr2 Antibody (YA2970) WB, IHC-P Human, Mouse, Rat

Related Diseases

Diseases Alias
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

Autism 15
  • Autism, Susceptibility To, 15

  • AUTS15

  • Autism Susceptibility 15

  • Autism, Susceptibility To, Type 15

Benign Epilepsy With Centrotemporal Spikes
  • Rolandic Epilepsy

  • Benign Rolandic Epilepsy

  • Epilepsy, Rolandic

  • Bcects

  • Benign Childhood Epilepsy With Centrotemporal Spike

  • Sylvan Seizures

  • Becrs

  • Bects

  • Bre

  • Benign Epilepsy Of Childhood With Centrotemporal Spikes

  • Benign Familial Epilepsy Of Childhood With Rolandic Spikes

  • Centrotemporal Epilepsy

Gilles De La Tourette Syndrome
  • Tourette Syndrome

  • Tourette Disorder

  • GTS

  • Ts

  • Gilles De La Tourette'S Syndrome

  • Motor-Verbal Tic Disorder

  • Guinon'S Disease

  • Psychogenic Tics

  • Tourette'S Syndrome

  • Chronic Motor And Vocal Tic Disorder

  • Td

  • Tourette'S Disease

  • Combined Vocal And Multiple Motor Tic Disorder [De La Tourette]

  • Combined Vocal And Multiple Motor Tic Disorder

  • Tic De La Tourette

Autism
  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic

Pitt-Hopkins Syndrome
  • PTHS

  • Encephalopathy, Severe Epileptic, With Autonomic Dysfunction

  • Mental Retardation, Syndromal, With Intermittent Hyperventilation

  • Intellectual Disability, Wide Mouth, Distinctive Facial Features, And Intermittent Hyperventilation Followed By Apnea

  • Pitt Hopkins Syndrome

  • Phs

  • Encephalopathy Severe Epileptic With Autonomic Dysfunction

Mutism
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

Pitt-Hopkins-Like Syndrome
Specific Language Impairment
  • Language Impairment, Specific

Pervasive Developmental Disorder
  • Pervasive Development Disorder

  • Pervasive Developmental Disorders

  • Pervasive Child Development Disorders

  • Autistic Behavior

  • Autism Spectrum Disorders

Autoimmune Epilepsy
Speech And Communication Disorders
  • Language Disorder

  • Communication Disorder

  • Language Disorders

  • Communication Disorders

  • Speech Language Disorder

  • Speech-Language Disorder

  • Communication Impairment

  • Speech And Language Disorder

La Crosse Encephalitis
  • California Encephalitis

  • California Virus Encephalitis

  • Neuroinvasive California Encephalitis Virus Infection

  • Californian Encephalitis

  • Encephalitis, California

  • California Meningoencephalitis

  • California Encephalitis Virus Infection

  • California Encephalitis Virus Infection Neuroinvasive Disease

  • California Meningoencephalitis Virus Disease

  • California Serogroup Virus Neuroinvasive Disease

  • California Viral Encephalitis

  • Ce - [California Encephalitis]

  • Lac - [La Crosse Encephalitis]

Stuttering
  • Stammering

  • Familial Persistent Stuttering

  • Stuttering, Familial Persistent 1

Echolalia
Postinfectious Encephalitis
  • Postinfective Encephalitis

  • Secondary Encephalitis

Exfoliation Syndrome
  • Pseudoexfoliation Glaucoma

  • Pseudoexfoliation Syndrome

  • Exfoliation Syndrome, Susceptibility To

  • XFS

  • Exfoliation Glaucoma

  • Xfg

  • Pseudoexfoliation Of The Lens

  • Pexg

  • Pexs

  • Exfoliative Syndrome

  • Glaucoma Capsulare

  • Pex

  • Pseudo-Exfoliation Syndrome

Acute Disseminated Encephalomyelitis
  • Acute Disseminated Encephalitis

  • Adem

  • Ade

  • Encephalomyelitis Acute Disseminated

  • Encephalomyelitis, Acute Disseminated

  • Adem - [Acute Disseminated Encephalomyelitis]

Tic Disorder
  • Tics

  • Behavioral Tic

Lingual-Facial-Buccal Dyskinesia
  • Orofacial Dyskinesia

  • Oro-Facial Dyskinesia

  • Dyskinesias

Reading Disorder
  • Specific Reading Disorder

  • Reading

  • Dyslexia

  • Developmental Reading Disorder

Childhood Disintegrative Disease
  • Childhood Disintegrative Disorder

  • Disintegrative Psychosis

  • Heller'S Syndrome

  • Symbiotic Psychosis

  • Dementia Infantilis

  • Heller Syndrome

  • Shared Paranoid Disorder

Hypermethioninemia Due To Adenosine Kinase Deficiency
  • Adk Hypermethioninemia

  • Hypermethioninemia Encephalopathy Due To Adenosine Kinase Deficiency

  • Hypermethioninemia Encephalopathy Due To Adk Deficiency

  • Mrt8

  • Mental Retardation, Autosomal Recessive 8, Formerly

  • Mrt8, Formerly

  • HMAKD

  • Mental Retardation, Autosomal Recessive 8

Obsessive-Compulsive Disorder
  • OCD

  • Obsessive-Compulsive Disorder, Susceptibility To

  • Anancastic Neurosis

  • Obsessive Compulsive Disorder

  • Anankastic Neurosis

  • Obsessive-Compulsive Neurosis

  • Obsessive Compulsive Behavior

Encephalitis
  • Mumps Encephalitis

  • Mumps Meningoencephalitis

  • Herpes Simplex Neuroinvasion

  • Herpetic Encephalitis

  • Herpetic Encephalopathy

  • Herpes Simplex Encephalitis, Myelitis Or Encephalomyelitis

  • Encephalitis Due To Herpesviridae

  • Encephalitis Due To Herpesvirus

  • Herpes Encephalitis

  • Herpesviral Encephalitis

  • Herpes Simplex Encephalitis

  • Hsv - [Herpes Simplex Virus] Encephalitis

  • Herpes Virus Encephalitis

  • Simian B Disease

  • Simian B Disorder

  • Encephalitis Nec

  • Idiopathic Encephalitis

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

Limbic Encephalitis
Speech Disorder
  • Speech Disorders

Autoimmune Disease Of Peripheral Nervous System
Schizophrenia
  • SCZD

  • Schizophrenia With Or Without An Affective Disorder

  • Schizophrenia 12

  • Schizophrenia, Susceptibility To

  • Schizophrenia-1

  • Dementia Praecox

  • Schizophrenia 1

Stiff-Person Syndrome
  • SPS

  • Stiff-Man Syndrome

  • Stiff Man Syndrome

  • Stiff Person Syndrome

  • Moersch-Woltman Syndrome

  • Sms

  • Stiff-Trunk Syndrome

  • Morsch Woltman Syndrome

  • Stiff Person Syndrome And Related Disorders

  • Stiff Person Spectrum Disorder

  • Classic Stiff Person Syndrome

  • Classic Sps

  • Focal Stiff Limb Syndrome

  • Focal Stiff-Person Syndrome

  • Stiff Leg Syndrome

  • Progressive Encephalomyelitis With Rigidity

Chorea Gravidarum
Transverse Myelitis
  • Myelitis Transverse

  • Myelitis, Transverse

Transient Tic Disorder
Anterograde Amnesia
  • Amnesia, Anterograde

Von Economo'S Disease
  • Encephalitis Lethargica

  • Von Economo Encephalitis

  • Von Economo Disease

Amnestic Disorder
  • Amnesia

  • Amnestic Syndrome

  • Korsakoff'S Psychosis Or Syndrome

  • Amnesic Syndrome

  • Amnestic Disorder In Conditions Classified Elsewhere

  • Korsakoff Psychosis Or Syndrome, Nonalcoholic

  • Nonalcoholic Organic Amnesic Syndrome

  • Organic Amnesic Syndrome

Thymus Gland Disease
  • Disease Of Thymus Gland

Miller Fisher Syndrome
  • Cranial Variant Of Gbs

  • Fisher'S Syndrome

  • Miller-Fisher Variant Of Guillain-Barre Syndrome

  • Miller-Fisher Syndrome

  • Cranial Variant Of Guillain-Barré Syndrome

  • Cranial Variant Of Guillain-Barre Syndrome

  • Fisher Syndrome

Articulation Disorder
  • Phonological Disorder

  • Articulation Disorders

  • Articulation Impairment

  • Speech Sound Disorders

Autoimmune Neuropathy
Chronic Tic Disorder
  • Chronic Motor Or Vocal Tic Disorder

  • Tic Disorders

  • Tic Disorder

  • Tic Disorder Nos

  • Tic Nos

  • Tic Spasm Nos

Thymus Cancer
  • Thymic Neoplasm

  • Thymic Tumor

  • Thymus Neoplasm

  • Thymus Neoplasms

  • Malignant Neoplasm Of Thymus

  • Neoplasm Of Thymus

  • Thymic Neoplasms

  • Thymoma, Familial

  • Thymic Carcinoma

  • Thymoma, Type C

  • Cancer Of Thymus

  • Malignant Tumour Of Thymus

  • Primary Malignant Neoplasm Of Thymus

  • Thymic Glandular Cancer

  • Thymus Gland Cancer

Viral Encephalitis
  • Epidemic Encephalitis

  • Encephalitis Viral

  • Encephalitis, Arbovirus

  • Arbovirus Encephalitis

  • Postviral Encephalitis Nos

  • Equine Encephalitis

  • Tick-Borne Encephalitis

  • Viral Encephalitis Transmitted By Tick

  • Mosquito-Borne Encephalitis

  • Acute Haemorrhagic Encephalitis

  • Acute Idiopathic Encephalitis

  • Chronic Viral Encephalitis

  • Endemic Encephalitis

  • Subacute Viral Encephalitis

  • Viral Haemorrhagic Encephalitis

  • Viral Nonepidemic Encephalitis

  • Nonepidemic Encephalitis

Developmental Coordination Disorder
  • Motor Skills Disorders

Dissociative Amnesia
  • Psychogenic Amnesia

  • Amnesia, Dissociative

  • Amnesia, Psychogenic

  • Amnesia Neurosis

  • Hysterical Fugue

  • Dissociative Fugue

Pitt-Hopkins-Like Syndrome 2
  • PTHSL2

  • Mesh

  • D006985

  • Mesh

  • D008607

Auditory Agnosia
Polyradiculopathy
Learning Disability
  • Learning Disabilities

  • Learning Disorders

  • Academic Skill Disorder

  • Learning Disorder

Drug Psychosis
  • Drug-Induced Psychosis

  • Drug-Induced Psychotic Disorder

  • Psychoses, Substance-Induced

  • Psychoses, Drug

Drug-Induced Mental Disorder
Phelan-Mcdermid Syndrome
  • Chromosome 22q13.3 Deletion Syndrome

  • 22q13.3 Deletion Syndrome

  • Telomeric 22q13 Monosomy Syndrome

  • PHMDS

  • Deletion 22q13 Syndrome

  • 22q13.3 Deletion

  • Deletion 22q13.3 Syndrome

  • Monosomy 22q13

  • Monosomy 22q13.3

  • 22q13 Deletion Syndrome

  • Monosomy 22q13 Syndrome

  • 22q13 Deletion

  • Chromosome Deletion

Choreatic Disease
  • Chorea

  • Hereditary Chorea

Partial Motor Epilepsy
  • Epilepsy, Partial, Motor

  • Epilepsy, Focal Motor

  • Focal Motor Seizure

Specific Developmental Disorder
Hereditary Spastic Paraplegia 51
  • Autosomal Dominant Spastic Paraplegia 51

  • Cpsq4

  • Spastic Quadriplegic Cerebral Palsy 4

  • Spg51

  • Spastic Paraplegia 51, Autosomal Recessive

Epilepsy, Familial Temporal Lobe, 1
  • ETL1

  • Adpeaf

  • Adlte

  • Epilepsy, Partial, With Auditory Features

  • Autosomal Dominant Partial Epilepsy With Auditory Features

  • Epilepsy, Lateral Temporal Lobe, Autosomal Dominant

  • Familial Temporal Lobe Epilepsy 1

  • Partial Epilepsy With Auditory Features

  • Autosomal Dominant Lateral Temporal Lobe Epilepsy

  • Lateral Temporal Lobe Epilepsy Autosomal Dominant

  • Epilepsy, Temporal Lobe, Familial, Type 1

Expressive Language Disorder
  • Developmental Expressive Language Disorder

Episodic Ataxia
  • Isaacs Syndrome

  • Neuromyotonia

  • Isaacs' Syndrome

  • Acquired Neuromyotonia

  • Continuous Muscle Fiber Activity Syndrome

  • Quantal Squander Syndrome

  • Isaacs-Mertens Syndrome

  • Ea Syndrome

  • Episodic Ataxia Syndrome

  • Isaac Syndrome

  • Isaac'S-Merten'S Syndrome

  • Isaac-Mertens Syndrome

  • Peripheral Nerve Hyperexcitability

  • Ea

  • Peripheral Nerve Hyperexcitability Syndrome

  • Ataxia, Episodic

  • Isaacs Neuromyotonia

  • Continuous Muscle Fibre Activity

Thymic Carcinoma
  • Malignant Thymoma

  • Thymoma, Malignant

Demyelinating Polyneuropathy
  • Peripheral Demyelinating Neuropathy

  • Demyelinating Peripheral Neuropathy

Transient Global Amnesia
  • Amnesia, Transient Global

Bipolar Disorder
  • Bipolar Depression

  • Manic Disorder

  • Depression, Bipolar

  • Bipolar Disorder Manic Phase

  • Depressive-Manic Psych.

  • Manic Bipolar Affective Disorder

  • Manic Bipolar I Disorder

  • Manic Depression

  • Manic Depressive Disorder

  • Mixed Bipolar Disorder

  • Bipolar Affective Disorder

  • Bipolar Affective Psychosis

  • Bipolar Spectrum Disorder

  • Manic Depressive Illness

  • Depression Bipolar

  • Bipolar Disorder, Mixed

  • Major Affective Disorder

  • Major Affective Disorder 1

  • Major Affective Disorder 2

Focal Epilepsy
  • Partial Epilepsy

  • Epilepsies, Partial

  • Localisation-Related Epilepsy

Meier-Gorlin Syndrome 2
  • MGORS2

  • Meier-Gorlin Syndrome, Type 2

Epilepsy, Idiopathic Generalized 9
  • Epilepsy, Idiopathic Generalized, Susceptibility To, 9

  • EIG9

  • Epilepsy, Juvenile Myoclonic 6

  • Idiopathic Generalized Epilepsy 9

  • Epilepsy, Juvenile Myoclonic, Susceptibility To, 6

  • Susceptibility To Idiopathic Generalized Epilepsy 9

  • Juvenile Myoclonic Epilepsy 6

  • EJM6

  • Susceptibility To Juvenile Myoclonic Epilepsy 6

  • Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 9

Hyperekplexia
  • Hereditary Hyperekplexia

  • Kok Disease

  • Congenital Stiff Man Syndrome

  • Familial Startle Disease

  • Sthe

  • Stiff-Baby Syndrome

  • Hereditary Hyperexplexia

  • Startle Disease

  • Exaggerated Startle Reaction

  • Hyperexplexia Hereditary

  • Startle Disease, Familial

  • Startle Reaction, Exaggerated

  • Stiff-Man Syndrome, Congenital

  • Stiff-Person Syndrome, Congenital

  • Congenital Stiff-Man Syndrome

  • Congenital Stiff-Person Syndrome

  • Familial Hyperekplexia

  • Startle Syndrome

  • Stiff Baby Syndrome

  • Hyperekplexia, Hereditary

  • Stiff-Person Syndrome

Gummatous Syphilis
Gallbladder Small Cell Carcinoma
  • Oat Cell Carcinoma Of The Gallbladder

  • Gallbladder Small Cell Neuroendocrine Carcinoma

Scoliosis
Dyslexia
Meningovascular Neurosyphilis
Episodic Ataxia, Type 8
  • Episodic Ataxia Type 8

  • EA8

  • Episodic Ataxia With Slurred Speech

Autoimmune Disease Of Central Nervous System
Polymicrogyria, Bilateral Perisylvian, X-Linked
  • Bilateral Perisylvian Polymicrogyria

  • Polymicrogyria, Bilateral Perisylvian

  • Pmgx

  • Perisylvian Syndrome, Congenital Bilateral

  • Cbps

  • Congenital Bilateral Perisylvian Syndrome

  • Perisylvian Syndrome

  • BPPX

  • Bpp

Psychotic Disorder
  • Psychotic Disorders

  • Mental Or Behavioural Disorder

  • Psychotic

  • Mental Disorders

Optic Nerve Disease
  • Optic Neuropathy

  • Disorder Of The Second Nerve

  • Optic Nerve Disorder

  • Optic Nerve

  • Abnormality Of The Optic Nerve

  • Optic Nerve Disorders

  • Neuropathy, Optic

  • Disorder Of The Optic Nerve

Distal Arthrogryposis
  • Arthrogryposis Multiplex Congenita

  • Arthrogryposis

  • Congenital Multiple Arthrogryposis

  • Congenital Arthromyodysplasia

  • Fibrous Ankylosis Of Multiple Joints

  • Guerin-Stern Syndrome

  • Guérin-Stern Syndrome

  • Myodystrophia Fetalis Deformans

  • Otto Syndrome

  • Rocher-Sheldon Syndrome

  • Rossi Syndrome

  • Amc

  • Multiple Congenital Arthrogryposis

  • Arthrogryposis Syndrome

  • Arthrogryposis, Distal

  • Distal Arthrogryposis Syndrome

  • Freeman-Sheldon Syndrome

  • Arthrogryposis, Distal, Type 2b

  • Congenital Multiplex Arthrogryposis

  • Amyoplasia Congenita

  • Congenital Amyoplasia

  • Amc - [Arthrogryposis Multiplex Congenita]

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

Movement Disease
  • Movement Disorders

  • Movement Disorder

Cerebellar Disease
  • Cerebellar Diseases

  • Cerebellar Dysfunction

  • Cerebellar Abnormality

  • Cerebellar Disorders

Velocardiofacial Syndrome
  • Shprintzen Syndrome

  • VCFS

  • Chromosome 22q11.2 Deletion Syndrome

  • Vcf Syndrome

  • Shprintzen Vcf Syndrome

  • Vcf-Velocardiofacial Syndrome

  • Velo-Cardio-Facial Syndrome

  • Digeorge Syndrome

  • 22q11 Deletion Syndrome

  • Conotruncal Anomaly Face Syndrome

Dravet Syndrome
  • Severe Myoclonic Epilepsy Of Infancy

  • Severe Myoclonic Epilepsy In Infancy

  • Smei

  • Epileptic Encephalopathy, Early Infantile, 6

  • DRVT

  • Developmental And Epileptic Encephalopathy 6a

  • Dee6a

  • Eiee6

  • Developmental And Epileptic Encephalopathy, 6

  • Dee6

  • Developmental And Epileptic Encephalopathy 6

  • Early Infantile Epileptic Encephalopathy 6

  • Myoclonic Epilepsy, Severe, Of Infancy

  • Sme

  • Severe Myoclonus Epilepsy Of Infancy

  • Borderline Smei

  • Smeb

  • Smeb-M

  • Smeb-O

  • Smeb-Sw

  • Smei-Borderland

  • Smei-Borderland More Than One Feature

  • Smei-Borderland-Myoclonic Seizures

  • Smei-Borderland-Spike Wave

  • Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures

  • ICEGTC

  • Infantile Severe Myoclonic Epilepsy

  • Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures

Childhood Absence Epilepsy
  • Pyknolepsy

  • Petit Mal Epilepsy

  • Absence Seizures

  • Absence Seizure

  • Petit Mal Seizure

  • Absence Epilepsy, Childhood

  • Pykno-Epilepsy

  • Epilepsy, Absence

  • Absence Epilepsy

  • Pycnolepsy

Developmental And Epileptic Encephalopathy
  • Encephalopathy, Developmental And Epileptic

West Syndrome
  • Infantile Spasms

  • Infantile Spasms Syndrome

  • Infantile Spasm

  • X-Linked Infantile Spasm Syndrome

  • X-Linked Infantile Spasms

  • Epileptic Encephalopathy, Early Infantile, 1

  • Is

  • Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

  • West'S Syndrome

  • Spasms, Infantile

  • Is -[Infantile Spasm]

  • Salaam Spasm

  • Salaam Tic

Peripheral Nervous System Disease
  • Peripheral Neuropathy

  • Peripheral Nerve Disease

  • Peripheral Nerve Disorders

  • Neuropathy, Peripheral

  • Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

Early Infantile Epileptic Encephalopathy
  • Early Infantile Epileptic Encephalopathy With Burst-Suppression

  • Early Infantile Epileptic Encephalopathy With Suppression Bursts

  • Eiee

  • Early Infantile Epileptic Encephalopathy With Suppression-Bursts

  • Ohtahara Syndrome

  • Encephalopathy, Epileptic, Early Infantile

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • 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

Orthologs Information

Species Symbol Source ID
Macaca mulatta CNTNAP2 VGNC VGNC:71174
Mus musculus CNTNAP2 MGD MGI:1914047
Rattus norvegicus CNTNAP2 RGD RGD:1307076
Felis catus CNTNAP2 VGNC VGNC:102028
Others CNTNAP2 NCBI