Ahnak2 AHNAK nucleoprotein 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ahnak2provided by MGI
Official Full Name: AHNAK nucleoprotein 2provided by MGI
Primary source: MGI:MGI:2144831
See related: Ensembl:ENSMUSG00000118667 AllianceGenome:MGI:2144831
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: Gm72; Gm1185
Summary: Predicted to be involved in regulation of RNA splicing. Predicted to be located in cytosol and plasma membrane. Predicted to be active in cytoplasm and nucleus. Is expressed in dorsal root ganglion and trigeminal ganglion. Orthologous to human AHNAK2 (AHNAK nucleoprotein 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in ovary adult (RPKM 46.7), colon adult (RPKM 40.7) and 13 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 F1; 12 61.2 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (112738631..112766278, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (112772197..112802658, complement)

Chromosome 12 - NC_000078.7 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
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?

Inhibition of AHNAK nucleoprotein 2 alleviates pulmonary fibrosis by downregulating the TGF-beta1/Smad3 signaling pathway.
Title: Inhibition of AHNAK nucleoprotein 2 alleviates pulmonary fibrosis by downregulating the TGF-β1/Smad3 signaling pathway.
Results show that stress functionally associates FGF1 with AHNAK2 and both proteins with the cytoskeleton and their co-localization in the vicinity of the cell membrane. AHNAK2 seems to be an important element of the FGF1 export pathway.
Title: AHNAK2 Participates in the Stress-Induced Nonclassical FGF1 Secretion Pathway.
these results demonstrate the exclusive expression of AHNAK1 and AHNAK2 in the costameres of adult skeletal muscles.
Title: AHNAK1 and AHNAK2 are costameric proteins: AHNAK1 affects transverse skeletal muscle fiber stiffness.

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Variation

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Alleles

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

Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Component	Evidence Code	Pubs
located_in Z disc	IDA Inferred from Direct Assay more info	PubMed
located_in costamere	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: protein AHNAK2

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_001378498.1 → NP_001365427.1 protein AHNAK2 isoform 1

Status: VALIDATED

Source sequence(s)

MF597757

UniProtKB/TrEMBL

A0A7N9VR94

Related

ENSMUSP00000159404.2, ENSMUST00000239525.1

Conserved Domains (1) summary

cd00992
Location:108 → 187

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
NM_001378499.1 → NP_001365428.1 protein AHNAK2 isoform 2

Status: VALIDATED

Source sequence(s)

MF597757

Conserved Domains (1) summary

cd00992
Location:9 → 88

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...