1. Gene
  2. ASTN2 - astrotactin 2 Gene

ASTN2 - astrotactin 2 Gene

Homo sapiens

Also known as bA67K19.1

Gene ID: 23245 | Gene type: protein coding

About ASTN2

Cytogenetic location: 9q33.1 Genomic coordinates (GRCh38): 9:116,423,112-117,415,057 (from NCBI)

This gene has 8 transcripts (splice variants), 215 orthologues and 1 paralogue. Biased expression in prostate (RPKM 6.8), brain (RPKM 6.4) and 13 other tissues.

Summary

This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010]

ASTN2 Products(8)

mRNA Protein Name
NM_001184734.1 NP_001171663.1 astrotactin-2 isoform e
NM_001184735.1 NP_001171664.1 astrotactin-2 isoform f
NM_001365068.1 NP_001351997.1 astrotactin-2 isoform g precursor
NM_001365069.1 NP_001351998.1 astrotactin-2 isoform h precursor
NM_014010.5 NP_054729.3 astrotactin-2 isoform a precursor
NM_198186.3 NP_937829.3 astrotactin-2 isoform b
NM_198187.3 NP_937830.3 astrotactin-2 isoform c
NM_198188.2 NP_937831.1 astrotactin-2 isoform d

ASTN2 Protein Structure

FXa_inhibition

FXa_inhibition: Coagulation Factor Xa inhibitory site (703 - 750)

MACPF

MACPF: MAC/Perforin domain (863 - 934)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1339 a.a.
Protein Preferred Names Protein Names

astrotactin-2

Related Diseases

Diseases Alias
Bardet-Biedl Syndrome 11

BBS11

Bardet-Biedl Syndrome

Bbs

Bardet-Biedl Syndrome, Type 11

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8

Sarcotubular Myopathy

Lgmd2h

Muscular Dystrophy, Limb-Girdle, Type 2h

Limb-Girdle Muscular Dystrophy Type 2h

LGMDR8

Muscular Dystrophy Hutterite Type

Muscular Dystrophy, Hutterite Type

Muscular Dystrophy Limb-Girdle Type 2h

Trim32-Related Limb-Girdle Muscular Dystrophy R8

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h

Lgmd Due To Trim32 Deficiency

Lgmd Type 2h

Limb-Girdle Muscular Dystrophy Due To Trim32 Deficiency

Trim32-Related Lgmd R8

Limb-Girdle Muscular Dystrophy 2h

Dystrophy, Muscular, Limb-Girdle, Type 2h

Creatine Phosphokinase, Elevated Serum

Hyperckemia, Idiopathic

Cpk, Elevated Serum

Hyperckmia

HYPCK

Isolated Elevated Serum Creatine Phosphokinase Levels

Elevated Serum Cpk

Idiopathic Hyperckemia

Isolated Hyperckemia

Elevated Serum Creatine Phosphokinase

H-Ck

Idiopathic Persistent Elevation Of Serum Creatine Kinase

Bardet-Biedl Syndrome

Bbs

Biedl-Bardet Syndrome

Myopathy

Muscular Diseases

Myopathies

Autosomal Recessive Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Limb-Girdle Muscular Dystrophy

Lgmd

Limb Girdle Muscular Dystrophy

Muscular Dystrophies, Limb-Girdle

Erb'S Muscular Dystrophy

Leyden-Mbius Muscular Dystrophy

Limb-Girdle Syndrome

Myopathic Limb-Girdle Syndrome

Limb Girdle

Muscular Dystrophy Limb-Girdle

Dystrophy, Muscular, Limb-Girdle

Lgmd - [Limb-Girdle Muscular Dystrophy]

Limb Girdle Muscle Dystrophy

Limb-Girdle Myopathy

Cerebral Palsy

Infantile Cerebral Palsy

Mixed Cerebral Palsy

Palsy Cerebral

Palsy, Cerebral

Cerebral Palsy, Mixed

Migraine Without Aura

Common Migraine

Migraine With Or Without Aura, Susceptibility To

Migraine Without Aura, Susceptibility To

Acute Migraine Without Aura

Migraine, Familial Hemiplegic, 2

FHM2

Mhp2

Migraine, Familial Basilar

Familial Hemiplegic Migraine 2

Familial Hemiplegic Migraine-2

Familiar Basilar Migraine

Migraine, Hemiplegic, Familial, Type 2

Migraine, Familial Hemiplegic, 1

FHM1

Mhp1

Fhm

Familial Hemiplegic Migraine 1

Migraine, Familial Hemiplegic, 1, With Progressive Cerebellar Ataxia

Familial Hemiplegic Migraine1 With Progressive Cerebellar Ataxia

Migraine Familial Hemiplegic With Progressive Cerebellar Ataxia

Migraine, Hemiplegic, Familial, Type 1

Hemiplegic Migraine, Familial Type 1

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

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

Migraine With Or Without Aura 1

Migraine

Migraine With Or Without Aura, Susceptibility To, 1

Migraine Disorder

Migraine Variant

Migraines

Migraine Disorders

Mgr1

Mgau

Ma

Migraine With Or Without Aura

Classic Migraine

Common Migraine

Disorder, Migraine

Headache Migraine

Headache Migrainous

Migraine Headache

Migraine Syndrome

Headache Including Migraine

Migraine, Susceptibility To

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
Rattus norvegicus ASTN2 RGD RGD:2320342
Felis catus ASTN2 VGNC VGNC:59983
Mus musculus ASTN2 MGD MGI:1889277
Bos taurus ASTN2 VGNC VGNC:106644
Macaca mulatta ASTN2 VGNC VGNC:70087
Canis familiaris ASTN2 VGNC VGNC:38195