Afg2a MGI Mouse Gene Detail - MGI:1927170 - AFG2 AAA ATPase homolog A

Symbol

Afg2a
Name

AFG2 AAA ATPase homolog A
Synonyms

2510048F20Rik, C78064, Spaf, Spata5

Feature Type

protein coding gene
IDs

MGI:1927170
NCBI Gene: 57815
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr3:37474052-37633245 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 18.46 cM, cytoband B
Mapping Data

4 experiments

SNPs within 2kb

1342 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1927170	protein coding gene	Chr3:37474045-37633245 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0027172	protein coding gene	Chr3:35268472-35438645 (+)
A/J	MGP_AJ_G0027132	protein coding gene	Chr3:34565362-34723275 (+)
AKR/J	MGP_AKRJ_G0027101	protein coding gene	Chr3:35207308-35376158 (+)
BALB/cJ	MGP_BALBcJ_G0027144	protein coding gene	Chr3:34314644-34478589 (+)
C3H/HeJ	MGP_C3HHeJ_G0026887	protein coding gene	Chr3:35264516-35424094 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0027590	protein coding gene	Chr3:36907076-37071672 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024951	protein coding gene	Chr3:32237787-32405581 (+)
CAST/EiJ	MGP_CASTEiJ_G0026340	protein coding gene	Chr3:35139081-35302509 (+)
CBA/J	MGP_CBAJ_G0026864	protein coding gene	Chr3:37906493-38074562 (+)
DBA/2J	MGP_DBA2J_G0026998	protein coding gene	Chr3:34008114-34168260 (+)
FVB/NJ	MGP_FVBNJ_G0026966	protein coding gene	Chr3:33448638-33608141 (+)
LP/J	MGP_LPJ_G0027110	protein coding gene	Chr3:36057979-36224291 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026985	protein coding gene	Chr3:40375487-40568339 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027649	protein coding gene	Chr3:35063353-35225928 (+)
PWK/PhJ	MGP_PWKPhJ_G0026073	protein coding gene	Chr3:33699109-33860214 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025885	protein coding gene	Chr3:34418308-34587156 (+)
WSB/EiJ	MGP_WSBEiJ_G0026414	protein coding gene	Chr3:35087071-35245875 (+)

Human Ortholog

AFG2A, AFG2 AAA ATPase homolog A

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

AFG2A, AFG2 AAA ATPase homolog A
Synonyms

AFG2, EHLMRS, NEDHSB, SPAF, SPATA5
Links

HGNC:18119

NCBI Gene ID: 166378

neXtProt AC: NX_Q8NB90

UniProt: Q8NB90
Chr Location

4q28.1

MGI Vertebrate Homology

Afg2a stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: AFG2A
Gene Tree

Afg2a

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References

1 with disease annotations

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Phenotype Summary

3 phenotypes from 1 allele in 1 genetic background
18 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

27
Endonuclease-mediated

1
Gene trapped

21
Radiation induced

2
Targeted

3
Genomic Mutations

2 involving Afg2a
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

38 strains or lines available

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All GO Annotations

18
GO References

6

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

754
Tissues

20
cDNA Data

59
Literature Summary

2

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase afg2a

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All Sequences

61
RefSeq

12
UniProt

5
CCDS

CCDS17321.1, CCDS50895.1, CCDS79900.1

Ensembl

ENSMUSG00000027722 (Evidence)
NCBI Gene

57815

			Length	Strain/Species	Flank
genomic	57815	NCBI Gene Model \| MGI Sequence Detail	159194	C57BL/6J	± kb
transcript	NM_001310473	RefSeq \| MGI Sequence Detail	3295	C57BL/6
polypeptide	Q3UMC0	UniProt \| EBI \| MGI Sequence Detail	893	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000015492 ATPase family gene 2 protein homolog A

(term hierarchy)
EC

3.6.4.10, 3.6.4.6
InterPro Domains

IPR041569 AAA ATPase, AAA+ lid domain

IPR003593 AAA+ ATPase domain

IPR050168 AAA ATPase domain-containing protein

IPR009010 Aspartate decarboxylase-like domain superfamily

IPR003960 ATPase, AAA-type, conserved site

IPR003959 ATPase, AAA-type, core

IPR003338 CDC48, N-terminal subdomain

IPR027417 P-loop containing nucleoside triphosphate hydrolase
GlyGen

Q3UMC0 1 site, 1 O-linked glycan (1 site)

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All nucleic 59

cDNA 59

Microarray probesets 5

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MGI:1921459, MGI:2140053, MGI:7461481

Summaries

All 51

Developmental Gene Expression 2

Diseases 1

Gene Ontology 6

Phenotypes 18
Earliest

J:64276 Lyon MF, et al., Dose-response curves for radiation-induced gene mutations in mouse oocytes and their interpretation. Mutat Res. 1979 Nov;63(1):161-73
Latest

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

TSS for Afg2a:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr28899	Chr3:37474406-37474421 (+)	362 bp
Tssr28900	Chr3:37474422-37474484 (+)	401 bp
Tssr28901	Chr3:37474490-37474505 (+)	446 bp
Tssr28902	Chr3:37474547-37474556 (+)	500 bp
Tssr28903	Chr3:37535502-37535521 (+)	61,460 bp
Tssr28904	Chr3:37535565-37535589 (+)	61,525 bp
Tssr28905	Chr3:37535619-37535642 (+)	61,579 bp
Tssr28906	Chr3:37535708-37535719 (+)	61,662 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)
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