GenTIGS

AFG3 like matrix AAA peptidase subunit 2 (AFG3L2) Associated conditions: 1. Spinocerebellar ataxia type 28 2. Spastic ataxia 3. Glycogen storage disease type III

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_006796.3	NP_006787.2	NC_000018.10	(12328943..12377226, complement)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1179 reference articles

Variant Information AFG3 like matrix AAA peptidase subunit 2 (AFG3L2) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of AFG3 like matrix AAA peptidase subunit 2 (AFG3L2)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	enables	nucleotide binding	Function	-
2	Homo sapiens	IEA	enables	ATP-dependent peptidase activity	Function	-
3	Homo sapiens	IBA	enables	metalloendopeptidase activity	Function	-
4	Homo sapiens	IDA	enables	metalloendopeptidase activity	Function	19748354 22354088 27642048 28396416 29545505 29932645 31327635 37917749 38157846
5	Homo sapiens	IEA	enables	metalloendopeptidase activity	Function	-
6	Homo sapiens	IMP	enables	metalloendopeptidase activity	Function	41075794
7	Homo sapiens	IPI	enables	protein binding	Function	14623864 26387735 27642048 35912435
8	Homo sapiens	IEA	enables	ATP binding	Function	-
9	Homo sapiens	HTP	located_in	mitochondrion	Component	34800366
10	Homo sapiens	IDA	located_in	mitochondrion	Component	22354088
11	Homo sapiens	TAS	located_in	mitochondrion	Component	10395799
12	Homo sapiens	IDA	is_active_in	mitochondrial inner membrane	Component	37917749
13	Homo sapiens	IDA	located_in	mitochondrial inner membrane	Component	31327635
14	Homo sapiens	IEA	located_in	mitochondrial inner membrane	Component	-
15	Homo sapiens	ISS	located_in	mitochondrial inner membrane	Component	-
16	Homo sapiens	TAS	is_active_in	mitochondrial inner membrane	Component	31327635
17	Homo sapiens	TAS	located_in	mitochondrial inner membrane	Component	-
18	Homo sapiens	IBA	part_of	m-AAA complex	Component	-
19	Homo sapiens	IDA	part_of	m-AAA complex	Component	19748354 28396416 31327635
20	Homo sapiens	IEA	part_of	m-AAA complex	Component	-
21	Homo sapiens	IDA	involved_in	proteolysis	Process	35912435
22	Homo sapiens	IEA	involved_in	proteolysis	Process	-
23	Homo sapiens	IMP	involved_in	proteolysis	Process	27642048
24	Homo sapiens	IMP	involved_in	axonogenesis	Process	27642048
25	Homo sapiens	IEA	enables	peptidase activity	Function	-
26	Homo sapiens	IEA	enables	metallopeptidase activity	Function	-
27	Homo sapiens	IMP	enables	metallopeptidase activity	Function	27642048
28	Homo sapiens	IEA	enables	zinc ion binding	Function	-
29	Homo sapiens	IEA	located_in	membrane	Component	-
30	Homo sapiens	IEA	involved_in	protein processing	Process	-
31	Homo sapiens	ISS	involved_in	protein processing	Process	-
32	Homo sapiens	IEA	involved_in	protein autoprocessing	Process	-
33	Homo sapiens	ISS	involved_in	protein autoprocessing	Process	-
34	Homo sapiens	IEA	enables	hydrolase activity	Function	-
35	Homo sapiens	IDA	enables	ATP hydrolysis activity	Function	19748354 31327635
36	Homo sapiens	IEA	enables	ATP hydrolysis activity	Function	-
37	Homo sapiens	IDA	involved_in	protein catabolic process	Process	37917749 38157846
38	Homo sapiens	IDA	involved_in	membrane protein proteolysis	Process	22354088
39	Homo sapiens	IBA	involved_in	mitochondrial protein processing	Process	-
40	Homo sapiens	IDA	involved_in	mitochondrial protein processing	Process	31327635
41	Homo sapiens	IMP	involved_in	mitochondrial protein processing	Process	41075794
42	Homo sapiens	IMP	involved_in	calcium import into the mitochondrion	Process	27642048
43	Homo sapiens	IEA	enables	metal ion binding	Function	-
44	Homo sapiens	TAS	enables	unfolded protein binding	Function	10395799
45	Homo sapiens	IMP	involved_in	mitochondrial calcium ion homeostasis	Process	27642048
46	Homo sapiens	IDA	involved_in	protein maturation	Process	29932645
47	Homo sapiens	IEA	involved_in	protein maturation	Process	-
48	Homo sapiens	IDA	involved_in	cellular response to glutathione	Process	37917749 38157846
49	Homo sapiens	IDA	involved_in	regulation of calcium import into the mitochondrion	Process	27642048 28396416
50	Homo sapiens	IEA	involved_in	regulation of calcium import into the mitochondrion	Process	-
51	Homo sapiens	IDA	involved_in	mitochondrial protein quality control	Process	26504172 30683687 34718584