Armc12 armadillo repeat containing 12 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Armc12provided by MGI
Official Full Name: armadillo repeat containing 12provided by MGI
Primary source: MGI:MGI:1914895
See related: Ensembl:ENSMUSG00000024223 AllianceGenome:MGI:1914895
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: 4930511I11Rik
Summary: Involved in sperm mitochondrial sheath assembly. Located in mitochondrial outer membrane. Human ortholog(s) of this gene implicated in spermatogenic failure 90. Orthologous to human ARMC12 (armadillo repeat containing 12). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Restricted expression toward testis adult (RPKM 230.2) See more
Orthologs: human all
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Genomic context

Location:: 17 A3.3; 17 14.74 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (28749835..28757949)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (28530861..28538975)

Chromosome 17 - NC_000083.7 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?

Biallelic mutations in ARMC12 cause asthenozoospermia and multiple midpiece defects in humans and mice.
Title: Biallelic mutations in ARMC12 cause asthenozoospermia and multiple midpiece defects in humans and mice.
ARMC12 regulates spatiotemporal mitochondrial dynamics during spermiogenesis and is required for male fertility.
Title: ARMC12 regulates spatiotemporal mitochondrial dynamics during spermiogenesis and is required for male fertility.
ARMC12 promotes neuroblastoma progression through interaction with RBBP4.
Title: Armadillo repeat containing 12 promotes neuroblastoma progression through interaction with retinoblastoma binding protein 4.

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Variation

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Alleles

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

Endonuclease-mediated (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AV041658 (e-PCR)
- UniSTS:164623

D17Mit166 (e-PCR), detects polymorphism
- UniSTS:142134

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in flagellated sperm motility	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell growth	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell growth	ISS Inferred from Sequence or Structural Similarity more info
involved_in sperm mitochondrial sheath assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial outer membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: armadillo repeat-containing protein 12

Names: testis specific expressed protein 3

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.