Astn2 astrotactin 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Astn2provided by MGI
Official Full Name: astrotactin 2provided by MGI
Primary source: MGI:MGI:1889277
See related: Ensembl:ENSMUSG00000028373 AllianceGenome:MGI:1889277
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 1d8; Astnl; bM452J22.1
Summary: Predicted to enable calcium ion binding activity and inositol 1,3,4,5 tetrakisphosphate binding activity. Acts upstream of or within establishment of body hair planar orientation and negative regulation of protein localization to cell surface. Located in cell pole; endosome; and membrane. Is expressed in several structures, including central nervous system; embryo mesenchyme; respiratory system; sensory organ; and skin. Orthologous to human ASTN2 (astrotactin 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in cerebellum adult (RPKM 12.4), cortex adult (RPKM 4.1) and 12 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 C1; 4 34.31 cM

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (65299040..66322774, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (65380803..66404537, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Astrotactin 2 (ASTN2) regulates emotional and cognitive functions by affecting neuronal morphogenesis and monoaminergic systems.
Title: Astrotactin 2 (ASTN2) regulates emotional and cognitive functions by affecting neuronal morphogenesis and monoaminergic systems.
Differences in the degree of Astn1 and Astn2 maturation possibly contribute to the higher levels of the C-terminal domain of Astn1 detected on neuronal membranes of the central nervous system
Title: Murine astrotactins 1 and 2 have a similar membrane topology and mature via endoproteolytic cleavage catalyzed by a signal peptidase.
This study has defined the transmembrane topology of mouse Astn2 and shown that this protein undergoes a single intramembrane proteolytic cleavage in the second of two transmembrane segments.
Title: Intramembrane Proteolysis of Astrotactins.
These experiments suggest that Astn2, an endosomal membrane protein, modulates Planar cell polarity signaling.
Title: Identification of Astrotactin2 as a Genetic Modifier That Regulates the Global Orientation of Mammalian Hair Follicles.
ASTN2 regulates the levels of ASTN1 in the plasma membrane and that the release of neuronal adhesions to the glial fiber during neuronal locomotion involves the intracellular trafficking of ASTN1.
Title: Astn2, a novel member of the astrotactin gene family, regulates the trafficking of ASTN1 during glial-guided neuronal migration.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Spontaneous (1) 1 citation
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

33.MHAa95c9.seq (e-PCR)
- UniSTS:124023

CA25.15 (e-PCR), detects polymorphism
- UniSTS:141201

DXS8087 (e-PCR)
- UniSTS:52116

EPS8L1_9838 (e-PCR)
- UniSTS:468406

UniSTS:234940 (e-PCR)
- UniSTS:234940

41.MMHAP17FRF11.seq (e-PCR)
- UniSTS:124400

D4Mit25 (e-PCR), detects polymorphism
- UniSTS:130036

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables calcium ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables inositol 1,3,4,5 tetrakisphosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables inositol 1,3,4,5 tetrakisphosphate binding	ISO Inferred from Sequence Orthology more info
enables inositol 1,3,4,5 tetrakisphosphate binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within establishment of body hair planar orientation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of protein localization to cell surface	IDA Inferred from Direct Assay more info	PubMed
involved_in neuron cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron migration	IEA Inferred from Electronic Annotation more info
acts_upstream_of protein localization to cell surface	IDA Inferred from Direct Assay more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell cortex	IEA Inferred from Electronic Annotation more info
located_in cell pole	IDA Inferred from Direct Assay more info	PubMed
located_in clathrin-coated vesicle	IEA Inferred from Electronic Annotation more info
located_in early endosome	IEA Inferred from Electronic Annotation more info
is_active_in endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in late endosome	IEA Inferred from Electronic Annotation more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in perikaryon	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: astrotactin-2

Names: bM243L4.1 (astrotactin 2); bM264P11.1 (astrotactin 2); bM383P24.1 (astrotactin 2); bM423P8.1 (astrotactin 2); bM468K2.1 (astrotactin 2)

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_019514.3 → NP_062387.2 astrotactin-2 isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (1) lacks an alternate segment in the 5' coding region, compared to variant 2. The resulting protein (isoform a) has a shorter N-terminus when compared to isoform b.

Source sequence(s)

AL691438, AL691454, AL691456, AL691474, AL691475, AL713878, AL731829

Consensus CDS

CCDS18268.1

UniProtKB/Swiss-Prot

Q80Z10

Related

ENSMUSP00000081540.3, ENSMUST00000084496.3

Conserved Domains (3) summary

smart00457
Location:813 → 996

MACPF; membrane-attack complex / perforin

cd00063
Location:1027 → 1149

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 ...

pfam14670
Location:664 → 711

FXa_inhibition; Coagulation Factor Xa inhibitory site
NM_207109.2 → NP_996992.1 astrotactin-2 isoform b precursor

See identical proteins and their annotated locations for NP_996992.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) represents the longer transcript and it encodes the longer isoform (b). Isoform b is most similar to the protein encoded by transcript variant 3 of the human gene.

Source sequence(s)

AL691438, AL691454, AL691456, AL691474, AL691475, AL713878, AL731829

Consensus CDS

CCDS18269.1

UniProtKB/Swiss-Prot

E9Q8T4, Q6A031, Q80Z10, Q811X9, Q811Y0, Q811Y1, Q811Y2

Related

ENSMUSP00000065786.5, ENSMUST00000068214.11

Conserved Domains (3) summary

smart00457
Location:865 → 1048

MACPF; membrane-attack complex / perforin

cd00063
Location:1079 → 1201

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 ...

pfam14670
Location:716 → 763

FXa_inhibition; Coagulation Factor Xa inhibitory site

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

65299040..66322774 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030253680.2 → XP_030109540.1 astrotactin-2 isoform X2

Conserved Domains (5) summary

smart00457
Location:809 → 992

MACPF; membrane-attack complex / perforin

cd00063
Location:1023 → 1145

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 ...

pfam14670
Location:660 → 707

FXa_inhibition; Coagulation Factor Xa inhibitory site

pfam18411
Location:1147 → 1239

Annexin_like; Annexin-like domain

pfam18577
Location:1243 → 1289

ASTN_2_hairpin; Astrotactin-2 C-terminal beta-hairpin domain
XM_006538104.4 → XP_006538167.1 astrotactin-2 isoform X1

UniProtKB/Swiss-Prot

Q80Z10

Conserved Domains (5) summary

smart00457
Location:861 → 1044

MACPF; membrane-attack complex / perforin

cd00063
Location:1075 → 1197

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 ...

pfam14670
Location:712 → 759

FXa_inhibition; Coagulation Factor Xa inhibitory site

pfam18411
Location:1199 → 1291

Annexin_like; Annexin-like domain

pfam18577
Location:1295 → 1341

ASTN_2_hairpin; Astrotactin-2 C-terminal beta-hairpin domain
XM_006538105.5 → XP_006538168.1 astrotactin-2 isoform X3

Conserved Domains (2) summary

pfam14670
Location:716 → 763

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl02616
Location:865 → 951

MACPF; MAC/Perforin domain