Atpaf2 MGI Mouse Gene Detail - MGI:2180561 - ATP synthase mitochondrial F1 complex assembly factor 2

Symbol

Atpaf2
Name

ATP synthase mitochondrial F1 complex assembly factor 2
Synonyms

ATP12, ATP12p

Feature Type

protein coding gene
IDs

MGI:2180561
NCBI Gene: 246782
Alliance

genome feature page
Transcription Start Sites

3 TSS

Sequence Map

Chr11:60291452-60309283 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 37.81 cM, cytoband B2
Mapping Data

2 experiments

SNPs within 2kb

402 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2180561	protein coding gene	Chr11:60291450-60309427 (-)
129S1/SvImJ	ENSMUSG00200034019	protein coding gene	Chr11:57299627-57316315 (-)
A/J	ENSMUSG00195036732	protein coding gene	Chr11:57238892-57255357 (-)
AKR/J	ENSMUSG00220041504	protein coding gene	Chr11:57407488-57423967 (-)
BALB/cJ	ENSMUSG00180045924	protein coding gene	Chr11:57315220-57331693 (-)
C3H/HeJ	ENSMUSG00175038890	protein coding gene	Chr11:57274000-57290465 (-)
C57BL/6NJ	ENSMUSG00215015979	protein coding gene	Chr11:57082508-57098981 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016454	protein coding gene	Chr11:55224695-55242571 (-)
CAST/EiJ	ENSTCUG00005041436	protein coding gene	Chr11:56812713-56829164 (-)
CBA/J	ENSMUSG00210037895	protein coding gene	Chr11:57125227-57141692 (-)
DBA/2J	ENSMUSG00185039945	protein coding gene	Chr11:57298802-57315275 (-)
FVB/NJ	ENSMUSG00205024760	protein coding gene	Chr11:57190942-57207628 (-)
JF1/MsJ	ENSUMUG00000014056	protein coding gene	Chr11:57657359-57673822 (-)
LP/J	ENSMUSG00230048949	protein coding gene	Chr11:58507609-58524297 (-)
NOD/ShiLtJ	ENSMUSG00190035727	protein coding gene	Chr11:57371183-57387662 (-)
NZO/HlLtJ	ENSMUSG00225031962	protein coding gene	Chr11:60529013-60545478 (-)
PWK/PhJ	ENSLUMG00010033606	protein coding gene	Chr11:57119106-57135778 (-)
SPRET/EiJ	ENSMSPG00010036228	protein coding gene	Chr11:57902085-57918854 (-)
WSB/EiJ	ENSIUOG00005031521	protein coding gene	Chr11:57175364-57191841 (-)

Human Ortholog

ATPAF2, ATP synthase mitochondrial F1 complex assembly factor 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ATPAF2, ATP synthase mitochondrial F1 complex assembly factor 2
Synonyms

ATP12, ATP12p, LP3663, MC5DN1
Links

HGNC:18802

NCBI Gene ID: 91647

UniProt: Q8N5M1
Chr Location

17p11.2; chr17:17977409-18039209 (-) GRCh38

MGI Vertebrate Homology

Atpaf2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ATPAF2
Gene Tree

Atpaf2

Diseases

1 with human ATPAF2 associations

				Human Disease	Mouse Models
				mitochondrial complex V (ATP synthase) deficiency nuclear type 1 IDs mitochondrial complex V (ATP synthase) deficiency nuclear type 1 DOID:0050768 OMIM:604273

Click on a disease name to see all genes associated with that disease.

References

3 with disease annotations

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Phenotype Summary

7 phenotypes from 2 alleles in 2 genetic backgrounds
23 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

12
Chemically induced (other)

1
Endonuclease-mediated

4
Gene trapped

2
Targeted

5
Genomic Mutations

4 involving Atpaf2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

17 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele are embryonic lethal.

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All GO Annotations

17
GO References

8

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

597
cDNA Data

4

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase atpaf2

ZFIN atpaf2

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All Sequences

75
RefSeq

34
UniProt

2
CCDS

CCDS24789.2

Ensembl

ENSMUSG00000042709 (Evidence)
NCBI Gene

246782

			Length	Strain/Species	Flank
genomic	ENSMUSG00000042709	Ensembl Gene Model \| MGI Sequence Detail	17832	C57BL/6J	± kb
transcript	ENSMUST00000108721	Ensembl \| MGI Sequence Detail	1813	Not Applicable
polypeptide	ENSMUSP00000104361	Ensembl \| MGI Sequence Detail	289	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000004496 ATP synthase mitochondrial F1 complex assembly factor 2

(term hierarchy)
InterPro Domains

IPR011419 ATP12, ATP synthase F1-assembly protein

IPR042272 ATP12, ATP synthase F1-assembly protein, N-terminal

IPR023335 ATP12 orthogonal Bundle domain superfamily

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All nucleic 4

cDNA 4

Microarray probesets 3

Summaries

All 50

Diseases 3

Gene Ontology 8

Phenotypes 23
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Atpaf2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr108293	Chr11:60309408-60309434 (-)	-138 bp
Tssr108292	Chr11:60308754-60308796 (-)	508 bp
Tssr108291	Chr11:60307848-60307882 (-)	1,418 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 09/15/2026 MGI 6.29