Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10939
Gene name	AFG3 like matrix AAA peptidase subunit 2
Gene symbol	AFG3L2
Synonyms (NCBI Gene)	OPA12SCA28SPAX5
Chromosome	18
Chromosome location	18p11.21
Summary	This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic parapl

Show/Hide all (12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs151344512	T>C,G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs182327153	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs543422544	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1005670966	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1020764190	G>A	Pathogenic	Coding sequence variant, missense variant
rs1057518024	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064795281	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1378484093	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1568149481	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1598832526	C>T	Pathogenic	Splice donor variant
rs1598832568	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1598833532	C>T	Likely-pathogenic	Splice donor variant

225

Show/Hide all (225)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031837	hsa-miR-16-5p	Proteomics	18668040
MIRT771435	hsa-miR-1207-3p	CLIP-seq
MIRT771436	hsa-miR-1302	CLIP-seq
MIRT771437	hsa-miR-186	CLIP-seq
MIRT771438	hsa-miR-224	CLIP-seq
MIRT771439	hsa-miR-2467-5p	CLIP-seq
MIRT771440	hsa-miR-3133	CLIP-seq
MIRT771441	hsa-miR-3188	CLIP-seq
MIRT771442	hsa-miR-3622a-3p	CLIP-seq
MIRT771443	hsa-miR-3622b-3p	CLIP-seq
MIRT771444	hsa-miR-3652	CLIP-seq
MIRT771445	hsa-miR-369-3p	CLIP-seq
MIRT771446	hsa-miR-374c	CLIP-seq
MIRT771447	hsa-miR-380	CLIP-seq
MIRT771448	hsa-miR-3922-5p	CLIP-seq
MIRT771449	hsa-miR-3924	CLIP-seq
MIRT771450	hsa-miR-3975	CLIP-seq
MIRT771451	hsa-miR-4298	CLIP-seq
MIRT771452	hsa-miR-4302	CLIP-seq
MIRT771453	hsa-miR-4430	CLIP-seq
MIRT771454	hsa-miR-4446-5p	CLIP-seq
MIRT771455	hsa-miR-4495	CLIP-seq
MIRT771456	hsa-miR-4505	CLIP-seq
MIRT771457	hsa-miR-4640-5p	CLIP-seq
MIRT771458	hsa-miR-4699-3p	CLIP-seq
MIRT771459	hsa-miR-4722-3p	CLIP-seq
MIRT771460	hsa-miR-4726-5p	CLIP-seq
MIRT771461	hsa-miR-4755-5p	CLIP-seq
MIRT771462	hsa-miR-4786-3p	CLIP-seq
MIRT771463	hsa-miR-485-5p	CLIP-seq
MIRT771464	hsa-miR-642a	CLIP-seq
MIRT771465	hsa-miR-648	CLIP-seq
MIRT771466	hsa-miR-655	CLIP-seq
MIRT1927642	hsa-miR-1273	CLIP-seq
MIRT1927643	hsa-miR-1273c	CLIP-seq
MIRT1927644	hsa-miR-188-5p	CLIP-seq
MIRT1927645	hsa-miR-3150b-3p	CLIP-seq
MIRT1927646	hsa-miR-324-5p	CLIP-seq
MIRT1927647	hsa-miR-4311	CLIP-seq
MIRT1927648	hsa-miR-4422	CLIP-seq
MIRT1927649	hsa-miR-4471	CLIP-seq
MIRT1927650	hsa-miR-4481	CLIP-seq
MIRT1927651	hsa-miR-4649-5p	CLIP-seq
MIRT1927652	hsa-miR-4689	CLIP-seq
MIRT1927653	hsa-miR-4709-3p	CLIP-seq
MIRT1927654	hsa-miR-4745-5p	CLIP-seq
MIRT1927655	hsa-miR-4784	CLIP-seq
MIRT1927656	hsa-miR-885-5p	CLIP-seq
MIRT2168406	hsa-miR-1245	CLIP-seq
MIRT2168407	hsa-miR-1260	CLIP-seq
MIRT2168408	hsa-miR-1260b	CLIP-seq
MIRT2168409	hsa-miR-130a	CLIP-seq
MIRT2168410	hsa-miR-130b	CLIP-seq
MIRT2168411	hsa-miR-148a	CLIP-seq
MIRT2168412	hsa-miR-148b	CLIP-seq
MIRT2168413	hsa-miR-152	CLIP-seq
MIRT2168414	hsa-miR-1825	CLIP-seq
MIRT2168415	hsa-miR-188-3p	CLIP-seq
MIRT1927644	hsa-miR-188-5p	CLIP-seq
MIRT2168416	hsa-miR-199a-5p	CLIP-seq
MIRT2168417	hsa-miR-199b-5p	CLIP-seq
MIRT2168418	hsa-miR-208a	CLIP-seq
MIRT2168419	hsa-miR-208b	CLIP-seq
MIRT2168420	hsa-miR-27a	CLIP-seq
MIRT2168421	hsa-miR-27b	CLIP-seq
MIRT2168422	hsa-miR-301a	CLIP-seq
MIRT2168423	hsa-miR-301b	CLIP-seq
MIRT2168424	hsa-miR-3064-3p	CLIP-seq
MIRT2168425	hsa-miR-3120-3p	CLIP-seq
MIRT2168426	hsa-miR-3130-3p	CLIP-seq
MIRT2168427	hsa-miR-3145-5p	CLIP-seq
MIRT2168428	hsa-miR-3156-3p	CLIP-seq
MIRT2168429	hsa-miR-3182	CLIP-seq
MIRT1927646	hsa-miR-324-5p	CLIP-seq
MIRT2168430	hsa-miR-3614-5p	CLIP-seq
MIRT2168431	hsa-miR-3617	CLIP-seq
MIRT2168432	hsa-miR-3666	CLIP-seq
MIRT2168433	hsa-miR-4286	CLIP-seq
MIRT2168434	hsa-miR-4295	CLIP-seq
MIRT2168435	hsa-miR-4320	CLIP-seq
MIRT1927649	hsa-miR-4471	CLIP-seq
MIRT2168436	hsa-miR-454	CLIP-seq
MIRT2168437	hsa-miR-4659a-3p	CLIP-seq
MIRT2168438	hsa-miR-4659b-3p	CLIP-seq
MIRT2168439	hsa-miR-4690-3p	CLIP-seq
MIRT771459	hsa-miR-4722-3p	CLIP-seq
MIRT2168440	hsa-miR-4766-5p	CLIP-seq
MIRT2168441	hsa-miR-4775	CLIP-seq
MIRT2168442	hsa-miR-4782-5p	CLIP-seq
MIRT2168443	hsa-miR-4793-3p	CLIP-seq
MIRT2168444	hsa-miR-499-5p	CLIP-seq
MIRT2168445	hsa-miR-513a-5p	CLIP-seq
MIRT2168446	hsa-miR-548aa	CLIP-seq
MIRT2168447	hsa-miR-567	CLIP-seq
MIRT2168448	hsa-miR-641	CLIP-seq
MIRT1927656	hsa-miR-885-5p	CLIP-seq
MIRT2168449	hsa-miR-891a	CLIP-seq
MIRT1927649	hsa-miR-4471	CLIP-seq
MIRT2470987	hsa-miR-103a	CLIP-seq
MIRT2470988	hsa-miR-107	CLIP-seq
MIRT2470989	hsa-miR-1179	CLIP-seq
MIRT771435	hsa-miR-1207-3p	CLIP-seq
MIRT2470990	hsa-miR-1227	CLIP-seq
MIRT2470991	hsa-miR-1285	CLIP-seq
MIRT771436	hsa-miR-1302	CLIP-seq
MIRT2470992	hsa-miR-2355-5p	CLIP-seq
MIRT771439	hsa-miR-2467-5p	CLIP-seq
MIRT2168424	hsa-miR-3064-3p	CLIP-seq
MIRT2470993	hsa-miR-3180-5p	CLIP-seq
MIRT2168429	hsa-miR-3182	CLIP-seq
MIRT2470994	hsa-miR-3187-5p	CLIP-seq
MIRT771441	hsa-miR-3188	CLIP-seq
MIRT2470995	hsa-miR-3192	CLIP-seq
MIRT2470996	hsa-miR-326	CLIP-seq
MIRT2470997	hsa-miR-330-5p	CLIP-seq
MIRT2470998	hsa-miR-338-3p	CLIP-seq
MIRT2168430	hsa-miR-3614-5p	CLIP-seq
MIRT771444	hsa-miR-3652	CLIP-seq
MIRT2470999	hsa-miR-3679-3p	CLIP-seq
MIRT2471000	hsa-miR-378g	CLIP-seq
MIRT2471001	hsa-miR-3921	CLIP-seq
MIRT771448	hsa-miR-3922-5p	CLIP-seq
MIRT2471002	hsa-miR-3929	CLIP-seq
MIRT771450	hsa-miR-3975	CLIP-seq
MIRT2168433	hsa-miR-4286	CLIP-seq
MIRT771451	hsa-miR-4298	CLIP-seq
MIRT2471003	hsa-miR-4300	CLIP-seq
MIRT771452	hsa-miR-4302	CLIP-seq
MIRT2471004	hsa-miR-4310	CLIP-seq
MIRT2471005	hsa-miR-4314	CLIP-seq
MIRT2471006	hsa-miR-4419b	CLIP-seq
MIRT771453	hsa-miR-4430	CLIP-seq
MIRT2471007	hsa-miR-4437	CLIP-seq
MIRT771454	hsa-miR-4446-5p	CLIP-seq
MIRT2471008	hsa-miR-4478	CLIP-seq
MIRT2471009	hsa-miR-4486	CLIP-seq
MIRT771456	hsa-miR-4505	CLIP-seq
MIRT2471010	hsa-miR-4521	CLIP-seq
MIRT2471011	hsa-miR-4530	CLIP-seq
MIRT771457	hsa-miR-4640-5p	CLIP-seq
MIRT2471012	hsa-miR-4646-5p	CLIP-seq
MIRT2471013	hsa-miR-4649-3p	CLIP-seq
MIRT2471014	hsa-miR-4653-5p	CLIP-seq
MIRT2168437	hsa-miR-4659a-3p	CLIP-seq
MIRT2168438	hsa-miR-4659b-3p	CLIP-seq
MIRT2471015	hsa-miR-4668-3p	CLIP-seq
MIRT2471016	hsa-miR-4674	CLIP-seq
MIRT2471017	hsa-miR-4714-3p	CLIP-seq
MIRT2471018	hsa-miR-4715-3p	CLIP-seq
MIRT771460	hsa-miR-4726-5p	CLIP-seq
MIRT771461	hsa-miR-4755-5p	CLIP-seq
MIRT2471019	hsa-miR-4759	CLIP-seq
MIRT2168440	hsa-miR-4766-5p	CLIP-seq
MIRT2471020	hsa-miR-4794	CLIP-seq
MIRT771463	hsa-miR-485-5p	CLIP-seq
MIRT2471021	hsa-miR-488	CLIP-seq
MIRT2471022	hsa-miR-612	CLIP-seq
MIRT771464	hsa-miR-642a	CLIP-seq
MIRT771465	hsa-miR-648	CLIP-seq
MIRT2471023	hsa-miR-920	CLIP-seq
MIRT2470987	hsa-miR-103a	CLIP-seq
MIRT2470988	hsa-miR-107	CLIP-seq
MIRT2470989	hsa-miR-1179	CLIP-seq
MIRT771435	hsa-miR-1207-3p	CLIP-seq
MIRT2470990	hsa-miR-1227	CLIP-seq
MIRT2470991	hsa-miR-1285	CLIP-seq
MIRT771436	hsa-miR-1302	CLIP-seq
MIRT2470992	hsa-miR-2355-5p	CLIP-seq
MIRT771439	hsa-miR-2467-5p	CLIP-seq
MIRT2168424	hsa-miR-3064-3p	CLIP-seq
MIRT2470993	hsa-miR-3180-5p	CLIP-seq
MIRT2168429	hsa-miR-3182	CLIP-seq
MIRT2470994	hsa-miR-3187-5p	CLIP-seq
MIRT771441	hsa-miR-3188	CLIP-seq
MIRT2470995	hsa-miR-3192	CLIP-seq
MIRT2470996	hsa-miR-326	CLIP-seq
MIRT2470997	hsa-miR-330-5p	CLIP-seq
MIRT2470998	hsa-miR-338-3p	CLIP-seq
MIRT2168430	hsa-miR-3614-5p	CLIP-seq
MIRT771444	hsa-miR-3652	CLIP-seq
MIRT2470999	hsa-miR-3679-3p	CLIP-seq
MIRT2471000	hsa-miR-378g	CLIP-seq
MIRT2471001	hsa-miR-3921	CLIP-seq
MIRT771448	hsa-miR-3922-5p	CLIP-seq
MIRT2471002	hsa-miR-3929	CLIP-seq
MIRT771450	hsa-miR-3975	CLIP-seq
MIRT2168433	hsa-miR-4286	CLIP-seq
MIRT771451	hsa-miR-4298	CLIP-seq
MIRT2471003	hsa-miR-4300	CLIP-seq
MIRT771452	hsa-miR-4302	CLIP-seq
MIRT2471004	hsa-miR-4310	CLIP-seq
MIRT2471005	hsa-miR-4314	CLIP-seq
MIRT2471006	hsa-miR-4419b	CLIP-seq
MIRT771453	hsa-miR-4430	CLIP-seq
MIRT2471007	hsa-miR-4437	CLIP-seq
MIRT771454	hsa-miR-4446-5p	CLIP-seq
MIRT2471008	hsa-miR-4478	CLIP-seq
MIRT2471009	hsa-miR-4486	CLIP-seq
MIRT771456	hsa-miR-4505	CLIP-seq
MIRT2471010	hsa-miR-4521	CLIP-seq
MIRT2471011	hsa-miR-4530	CLIP-seq
MIRT771457	hsa-miR-4640-5p	CLIP-seq
MIRT2471012	hsa-miR-4646-5p	CLIP-seq
MIRT2471013	hsa-miR-4649-3p	CLIP-seq
MIRT2471014	hsa-miR-4653-5p	CLIP-seq
MIRT2168437	hsa-miR-4659a-3p	CLIP-seq
MIRT2168438	hsa-miR-4659b-3p	CLIP-seq
MIRT2471015	hsa-miR-4668-3p	CLIP-seq
MIRT2471016	hsa-miR-4674	CLIP-seq
MIRT2471017	hsa-miR-4714-3p	CLIP-seq
MIRT2471018	hsa-miR-4715-3p	CLIP-seq
MIRT771460	hsa-miR-4726-5p	CLIP-seq
MIRT771461	hsa-miR-4755-5p	CLIP-seq
MIRT2471019	hsa-miR-4759	CLIP-seq
MIRT2168440	hsa-miR-4766-5p	CLIP-seq
MIRT2471020	hsa-miR-4794	CLIP-seq
MIRT771463	hsa-miR-485-5p	CLIP-seq
MIRT2471021	hsa-miR-488	CLIP-seq
MIRT2674668	hsa-miR-501-3p	CLIP-seq
MIRT2674669	hsa-miR-502-3p	CLIP-seq
MIRT2471022	hsa-miR-612	CLIP-seq
MIRT771464	hsa-miR-642a	CLIP-seq
MIRT771465	hsa-miR-648	CLIP-seq
MIRT2674670	hsa-miR-767-5p	CLIP-seq
MIRT2471023	hsa-miR-920	CLIP-seq

Show/Hide all (62)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004176	Function	ATP-dependent peptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IDA	19748354, 22354088, 27642048, 28396416, 29545505, 29932645, 31327635, 37917749, 38157846
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	14623864, 26387735, 27642048, 32814053, 35912435
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	22354088
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	10395799
GO:0005743	Component	Mitochondrial inner membrane	IDA	37917749
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0005743	Component	Mitochondrial inner membrane	TAS	31327635
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005745	Component	M-AAA complex	IBA
GO:0005745	Component	M-AAA complex	IDA	19748354, 28396416, 31327635
GO:0005745	Component	M-AAA complex	IEA
GO:0006508	Process	Proteolysis	IDA	35912435
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	IMP	27642048
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007409	Process	Axonogenesis	IEA
GO:0007409	Process	Axonogenesis	IMP	27642048
GO:0007528	Process	Neuromuscular junction development	IEA
GO:0008053	Process	Mitochondrial fusion	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IMP	27642048
GO:0008270	Function	Zinc ion binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0016485	Process	Protein processing	IEA
GO:0016485	Process	Protein processing	ISS
GO:0016540	Process	Protein autoprocessing	IEA
GO:0016540	Process	Protein autoprocessing	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IDA	19748354, 31327635
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0021675	Process	Nerve development	IEA
GO:0030163	Process	Protein catabolic process	IDA	37917749, 38157846
GO:0033619	Process	Membrane protein proteolysis	IDA	22354088
GO:0034982	Process	Mitochondrial protein processing	IBA
GO:0034982	Process	Mitochondrial protein processing	IEA
GO:0036444	Process	Calcium import into the mitochondrion	IDA	22925203, 32494073
GO:0036444	Process	Calcium import into the mitochondrion	IMP	22925203, 23755363, 27099988
GO:0036444	Process	Calcium import into the mitochondrion	IMP	27642048
GO:0040014	Process	Regulation of multicellular organism growth	IEA
GO:0042407	Process	Cristae formation	IEA
GO:0042552	Process	Myelination	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051082	Function	Unfolded protein binding	TAS	10395799
GO:0051560	Process	Mitochondrial calcium ion homeostasis	IMP	27642048
GO:0051604	Process	Protein maturation	IDA	29932645
GO:0051604	Process	Protein maturation	IEA
GO:0055001	Process	Muscle cell development	IEA
GO:0060013	Process	Righting reflex	IEA
GO:0072753	Process	Cellular response to glutathione	IDA	37917749, 38157846
GO:0110097	Process	Regulation of calcium import into the mitochondrion	IDA	27642048, 28396416
GO:0110097	Process	Regulation of calcium import into the mitochondrion	IEA
GO:0141164	Process	Mitochondrial protein quality control	IDA	26504172, 30683687, 34718584
GO:0160007	Process	Glutathione import into mitochondrion	IDA	34707288

MIM	HGNC	e!Ensembl
604581	315	ENSG00000141385

Q9Y4W6

Protein name

Mitochondrial inner membrane m-AAA protease component AFG3L2 (EC 3.4.24.-) (EC 3.6.-.-) (AFG3-like protein 2) (Paraplegin-like protein)

Protein function

Catalytic component of the m-AAA protease, a protease that plays a key role in proteostasis of inner mitochondrial membrane proteins, and which is essential for axonal and neuron development (PubMed:19748354, PubMed:28396416, PubMed:29932645, Pu

PDB

2LNA , 6NYY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06480	FtsH_ext	146 → 242	FtsH Extracellular	Family
PF00004	AAA	344 → 477	ATPase family associated with various cellular activities (AAA)	Domain
PF17862	AAA_lid_3	505 → 547	AAA+ lid domain	Domain
PF01434	Peptidase_M41	561 → 744	Peptidase family M41	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. Highly expressed in the cerebellar Purkinje cells. {ECO:0000269|PubMed:20208537}.

Sequence

MAHRCLRLWGRGGCWPRGLQQLLVPGGVGPGEQPCLRTLYRFVTTQARASRNSLLTDIIA
AYQRFCSRPPKGFEKYFPNGKNGKKASEPKEVMGEKKESKPAATTRSSGGGGGGGGKRGG
KKDDSHWWSRFQKGDIPWDDKDFRMFFLWTALFWGGVMFYLLLKRSGREITWKDFVNNYL
SKGVVDRLEVVNKRFVRVTFTPGKTPVDGQYVWFNIGSVDTFERNLETLQQELGIEGENR
VPVVYIAESDGSFLLSMLPTVLIIAFLLYTIRRGPAGIGRTGRGMGGLFSVGETTAKVLK
DEIDVKFKDVAGCEEAKLEIMEFVNFLKNPKQYQDLGAKIPKGAILTGPPGTGKTLLAKA
TAGEANVPFITVSGSEFLEMFVGVGPARVRDLFALARKNAPCILFIDEIDAVGRKRGRGN
FGGQSEQENTLNQLLVEMDGFNTTTNVVILAGTNRPDILDPALLRPGRFDRQIFIGPPDI
KGRASIFKVHLRPLKLDSTLEKDKLARKLASLTPGFSGADVANVCNEAALIAARHLSDSI
NQKHFEQAIERVIGGLEKKTQVLQPEEKKTVAYHEAGHAVAGWYLEHADPLLKVSIIPRG
KGLGYAQYLPKEQYLYTKEQLLDRMCMTLGGRVSEEIFFGRITTGAQDDLRKVTQSAYAQ
IVQFGMNEKVGQISFDLPRQGDMVLEKPYSEATARLIDDEVRILINDAYKRTVALLTEKK
ADVEKVALLLLEKEVLDKNDMVELLGPRPFAEKSTYEEFVEGTGSLDEDTSLPEGLKDWN
KEREKEKEEPPGEKVAN

Sequence length

797

Interactions

View interactions

	KEGG		Reactome
	Spinocerebellar ataxia		Processing of SMDT1

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Glycogen storage disease type III	Likely pathogenic	rs1438358338	RCV003990619	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs1908309088	RCV001249474	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Optic atrophy	Pathogenic; Likely pathogenic	rs1020764190, rs1908300748, rs1908309088, rs1908369114, rs1908371616, rs1908507433, rs755893615	RCV000684752 RCV001249476 RCV001249474 RCV001249478 RCV001249475 RCV001249480 RCV001249479 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Optic atrophy 12	Pathogenic; Likely pathogenic	rs2143165387, rs2143171389, rs151344514, rs1020764190, rs1908300748, rs1908371616, rs1908566777	RCV002508979 RCV003334466 RCV002490407 RCV001253809 RCV001253814 RCV001253813 RCV001253810 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Reduced tendon reflexes	Pathogenic	rs1908369114	RCV001249478	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensorineural hearing loss disorder	Likely pathogenic	rs1908371616	RCV001249475	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic ataxia	Likely pathogenic	rs753148089	RCV001647161	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic ataxia 5	Pathogenic; Likely pathogenic	rs2143196334, rs2143165387, rs727502823, rs2510223754, rs775255820, rs764254189, rs151344514, rs387906889, rs543422544, rs1907906060, rs1907907851	RCV001647160 RCV002508979 RCV000149914 RCV002509896 RCV004595412 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic paraparesis	Pathogenic	rs1908300748	RCV001249476	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinocerebellar ataxia type 28	Likely pathogenic; Pathogenic	rs797045221, rs2143165387, rs727502823, rs151344520, rs151344519, rs151344521, rs151344523, rs151344512, rs765987297, rs149121681, rs151344514, rs151344515, rs151344517, rs151344513, rs151344518 View all (5 more)	RCV001787700 RCV002508979 RCV002265626 RCV000005804 RCV000005805 View all (17 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (27)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Abnormal cerebellum morphology	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AFG3L2-related disorder	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA, SPINOCEREBELLAR	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant cerebellar ataxia	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOREA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonic disorder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET SPASTIC ATAXIA-MYOCLONIC EPILEPSY-NEUROPATHY SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERKINESIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperkinetic movements	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 28	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIAS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (97)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Action Myoclonus-Renal Failure Syndrome	Action Myoclonus-Renal Failure Syndrome	CTD_human_DG	25401298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	37849306	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	20354562	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Sensory Autosomal Dominant	Ataxia, sensory, autosomal dominant	Pubtator	23777634	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	CTD_human_DG	20208537		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	24272953, 29451229, 30252181, 30989755		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxias, Hereditary	Ataxia	BEFREE	20208537		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atypical Inclusion-Body Disease	Inclusion-Body Disease	CTD_human_DG	25401298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Hereditary Spastic Paraplegia	Spastic paraplegia	BEFREE	30252181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	32237276	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	BEFREE	24814845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	31882500	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	28449981		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	BEFREE	26868664		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic progressive external ophthalmoplegia	Progressive External Ophthalmoplegia	BEFREE	25420100		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	CLINVAR_DG	20725928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	27164068		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	CLINVAR_DG	20725928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	BEFREE	21619691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	CTD_human_DG	25401298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome	Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Progressive Myoclonic Epilepsy	Myoclonic Epilepsy	CTD_human_DG	25401298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	CLINVAR_DG	20725928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	14623864		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hiatal Hernia	Hiatal Hernia	CLINVAR_DG	20725928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	CLINVAR_DG	20725928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CLINVAR_DG	20725928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	CLINVAR_DG	20725928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular degeneration	Macular Degeneration	CLINVAR_DG	20725928		★★★★★ ★☆☆☆☆ Found in Text Mining only
May-White Syndrome	May-White Syndrome	CTD_human_DG	25401298		★★★★★ ★☆☆☆☆ Found in Text Mining only
MERRF Syndrome	MERRF Syndrome	BEFREE	27476418		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	28449981		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	31111429		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	CTD_human_DG	25401298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	14623864, 31327635, 32600459	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	14623864, 20208537, 30910913, 31327635		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	22022284		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	BEFREE	24293060		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus, End-Position	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	30252181, 32600459	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Optic Atrophy	Optic Atrophy	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Optic Atrophy Autosomal Dominant	Optic atrophy	Pubtator	32219868, 32600459, 38278202	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	CLINVAR_DG	20725928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	30252181	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	30252181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Parotitis	Parotitis	CLINVAR_DG	20725928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	BEFREE	20725928, 24293060		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	BEFREE	24814845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	32600459	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Ataxia	Spastic Ataxia	BEFREE	22022284		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic Ataxia	Spastic ataxia	Pubtator	30252181, 32600459	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic Ataxia	Spastic Ataxia	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE	Spastic Ataxia	ORPHANET_DG	22022284		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE	Spastic Ataxia	UNIPROT_DG	22022284		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE	Spastic Ataxia	GENOMICS_ENGLAND_DG	22964162, 27165006, 27604308, 30544562		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE	Spastic Ataxia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE	Spastic Ataxia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE	Spastic Ataxia	BEFREE	27476418		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	Spastic paraplegia	BEFREE	22022284, 30252181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	14623864, 30252181	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Type 7	Spastic Paraplegia	BEFREE	22022284, 27164068		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	22022284, 29451229		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 11	Spinocerebellar ataxia	Pubtator	37301203	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 28	Spinocerebellar Ataxia	UNIPROT_DG	20208537, 20354562, 20725928, 24293060, 26677414, 29053796		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 28	Spinocerebellar Ataxia	BEFREE	20725928, 21827917, 22022284, 22563911, 22964162, 23041622, 24272953, 24293060, 24814845, 25420100, 25485680, 26868664, 29451229, 30252181, 30389403, 30910913, 31111429 View all (2 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 28	Spinocerebellar Ataxia	CLINVAR_DG	20725928		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 28	Spinocerebellar Ataxia	GENOMICS_ENGLAND_DG	22022284, 22964162, 27604308, 30544562		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia 28	Spinocerebellar ataxia	Pubtator	23777634, 30252181, 32219868, 32237276, 32600459	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 28	Spinocerebellar Ataxia	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 28	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	CTD_human_DG	20208537		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	CTD_human_DG	20208537		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar ataxia type 28	Spinocerebellar Ataxia	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spinocerebellar Ataxia Type 4	Spinocerebellar Ataxia	CTD_human_DG	20208537		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 5	Spinocerebellar Ataxia	CTD_human_DG	20208537		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 6 (disorder)	Spinocerebellar Ataxia	CTD_human_DG	20208537		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	CTD_human_DG	20208537		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	30252181	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	CLINVAR_DG	20725928		★★★★★ ★☆☆☆☆ Found in Text Mining only

AFG3L2 (AFG3 like matrix AAA peptidase subunit 2)