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ASTN2 astrotactin 2 [ Homo sapiens (human) ]

Gene ID: 23245, updated on 1-Jun-2020

Summary

Official Symbol
ASTN2provided by HGNC
Official Full Name
astrotactin 2provided by HGNC
Primary source
HGNC:HGNC:17021
See related
Ensembl:ENSG00000148219 MIM:612856
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
bA67K19.1
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]
Expression
Biased expression in prostate (RPKM 6.8), brain (RPKM 6.4) and 13 other tissues See more
Orthologs

Genomic context

See ASTN2 in Genome Data Viewer
Location:
9q33.1
Exon count:
25
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (116423112..117415057, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (119187504..120177317, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene pappalysin 1 Neighboring gene uncharacterized LOC105376241 Neighboring gene PAPPA antisense RNA 1 Neighboring gene GATA motif-containing MPRA enhancer 254 Neighboring gene Sharpr-MPRA regulatory region 10185 Neighboring gene uncharacterized LOC107987014 Neighboring gene ASTN2 antisense RNA 1 Neighboring gene uncharacterized LOC107987015 Neighboring gene uncharacterized LOC105376240 Neighboring gene tripartite motif containing 32 Neighboring gene uncharacterized LOC105376239 Neighboring gene uncharacterized LOC105376238 Neighboring gene uncharacterized LOC105376237 Neighboring gene RN7SK pseudogene 128 Neighboring gene small nucleolar RNA, H/ACA box 70C Neighboring gene ribosomal protein L10 pseudogene 3 Neighboring gene RN7SK pseudogene 125 Neighboring gene uncharacterized LOC105376242 Neighboring gene uncharacterized LOC101928797

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed.
NHGRI GWA Catalog
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
NHGRI GWA Catalog
Common variants at 12q14 and 12q24 are associated with hippocampal volume.
NHGRI GWA Catalog
Genome-wide association analysis identifies susceptibility loci for migraine without aura.
NHGRI GWA Catalog
Genome-wide association study of smoking behaviours in patients with COPD.
NHGRI GWA Catalog
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
NHGRI GWA Catalog
Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.
NHGRI GWA Catalog
Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
The genetic architecture of economic and political preferences.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0634, bA264C15.1

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IDA
Inferred from Direct Assay
more info
 
inositol 1,3,4,5 tetrakisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inositol 1,3,4,5 tetrakisphosphate binding IDA
Inferred from Direct Assay
more info
 
Process Evidence Code Pubs
establishment of body hair planar orientation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein localization to cell surface IEA
Inferred from Electronic Annotation
more info
 
neuron cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell cortex IEA
Inferred from Electronic Annotation
more info
 
cell pole IEA
Inferred from Electronic Annotation
more info
 
clathrin-coated vesicle IEA
Inferred from Electronic Annotation
more info
 
early endosome IEA
Inferred from Electronic Annotation
more info
 
endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
late endosome IEA
Inferred from Electronic Annotation
more info
 
perikaryon IEA
Inferred from Electronic Annotation
more info
 

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_021409.2 RefSeqGene

    Range
    5001..996946
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001184734.1NP_001171663.1  astrotactin-2 isoform e

    See identical proteins and their annotated locations for NP_001171663.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. This variant also lacks a segment in the 3' coding region compared to variant 1. The encoded isoform (e) has distinct N- and C-termini and is shorter than isoform a.
    Source sequence(s)
    AI341147, BC143292, DA015423
    UniProtKB/TrEMBL
    B7ZKP4
    Conserved Domains (2) summary
    cd00063
    Location:131240
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    cl02616
    Location:187
    MACPF; MAC/Perforin domain
  2. NM_001184735.1NP_001171664.1  astrotactin-2 isoform f

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) has multiple differences compared to variant 1. These differences result in a distinct 5' UTR and lead to translation initiation at an alternate start codon, compared to variant 1. The encoded isoform (f) has distinct N- and C-termini and is shorter than isoform a.
    Source sequence(s)
    AK024064, AL133284, BC010680, DA015423
    Consensus CDS
    CCDS55334.1
    UniProtKB/TrEMBL
    B3KN99, X6R5P2
    Related
    ENSP00000351460.4, ENST00000358637.4
    Conserved Domains (1) summary
    cl02616
    Location:187
    MACPF; MAC/Perforin domain
  3. NM_001365068.1NP_001351997.1  astrotactin-2 isoform g precursor

    Status: REVIEWED

    Source sequence(s)
    AL133282, AL133284, AL137024, AL157829, AL354981, AL355608, AL358792, AL392085
    Related
    ENSP00000314038.4, ENST00000313400.8
    Conserved Domains (2) summary
    smart00457
    Location:8521035
    MACPF; membrane-attack complex / perforin
    pfam14670
    Location:703750
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  4. NM_001365069.1NP_001351998.1  astrotactin-2 isoform h precursor

    Status: REVIEWED

    Source sequence(s)
    AL133282, AL133284, AL137024, AL157829, AL354981, AL355608, AL358792, AL392085
    Conserved Domains (2) summary
    smart00457
    Location:8481031
    MACPF; membrane-attack complex / perforin
    pfam14670
    Location:699746
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  5. NM_014010.5NP_054729.3  astrotactin-2 isoform a precursor

    See identical proteins and their annotated locations for NP_054729.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AL133282, AL133284, AL137024, AL157829, AL354981, AL355608, AL358792, AL392085
    Consensus CDS
    CCDS6815.1
    UniProtKB/Swiss-Prot
    O75129
    Related
    ENSP00000354504.2, ENST00000361209.6
    Conserved Domains (2) summary
    smart00457
    Location:801984
    MACPF; membrane-attack complex / perforin
    pfam14670
    Location:652699
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  6. NM_198186.3NP_937829.3  astrotactin-2 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AI341147, BC029272, BX649176
    Consensus CDS
    CCDS48009.2
    UniProtKB/Swiss-Prot
    O75129
    Related
    ENSP00000288520.5, ENST00000288520.9
    Conserved Domains (2) summary
    cd00063
    Location:169289
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    cl02616
    Location:42136
    MACPF; MAC/Perforin domain
  7. NM_198187.3NP_937830.3  astrotactin-2 isoform c

    See identical proteins and their annotated locations for NP_937830.3

    Status: REVIEWED

    Source sequence(s)
    AI341147, BC143293, DA015423
    UniProtKB/TrEMBL
    B7ZKP5
    Related
    ENSP00000355116.4, ENST00000361477.7
    Conserved Domains (2) summary
    cd00063
    Location:131240
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    cl02616
    Location:187
    MACPF; MAC/Perforin domain
  8. NM_198188.2NP_937831.1  astrotactin-2 isoform d

    See identical proteins and their annotated locations for NP_937831.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. This variant also lacks a segment in the 3' coding region compared to variant 1. The encoded isoform (d) has distinct N- and C-termini and is shorter than isoform a.
    Source sequence(s)
    AI341147, AK024064, BC093835, DA015423
    Consensus CDS
    CCDS6814.1
    UniProtKB/Swiss-Prot
    O75129
    UniProtKB/TrEMBL
    B3KN99
    Related
    ENSP00000339925.4, ENST00000341734.8
    Conserved Domains (2) summary
    cd00063
    Location:131240
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    cl02616
    Location:187
    MACPF; MAC/Perforin domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    116423112..117415057 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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