ASTN2 - astrotactin 2 Gene

Also Known as bA67K19.1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23245

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