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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6687
Gene name Gene Name - the full gene name approved by the HGNC.	SPG7 matrix AAA peptidase subunit, paraplegin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SPG7
Synonyms (NCBI Gene) Gene synonyms aliases	CAR, CMAR, PGN, SPG5C
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16q24.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organe

Show/Hide all(70)

SNP ID	Visualize variation	Clinical significance	Consequence
rs61755320	C>T	Uncertain-significance, pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72547551	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs72547552	G>A	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs111475461	G>A,T	Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs114135540	G>A,C,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Non coding transcript variant, synonymous variant, coding sequence variant
rs116319889	C>T	Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, synonymous variant, coding sequence variant
rs121918357	G>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs121918358	T>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs138671904	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained
rs141644720	G>A,T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs141659620	G>A,C	Pathogenic-likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs149474131	C>A,G,T	Likely-benign, pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs149797758	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs151249432	C>G,T	Pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs267607085	G>C	Likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs368373840	G>A,C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs369227537	A>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs372981030	A>T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs535030441	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs562890289	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant
rs568556987	A>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs745444834	G>A,C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs746053679	G>A,C,T	Pathogenic-likely-pathogenic, likely-pathogenic	Splice donor variant
rs746099594	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs747503698	->T	Conflicting-interpretations-of-pathogenicity, pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs748255454	GCTGGTGGCCAAGGCCT>-	Likely-pathogenic, pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs748309520	G>A	Pathogenic	Splice acceptor variant
rs748555510	C>T	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs748600162	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs752257333	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs752623413	T>C	Likely-pathogenic, pathogenic	Genic downstream transcript variant, 3 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs752989523	G>A,C	Uncertain-significance, pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs758702550	C>A,T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs760818649	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs762795756	C>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs764791523	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs766155407	TC>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs768136171	TG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs768595656	TT>C,T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs768823392	GGCGGGAGA>-	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, splice acceptor variant, coding sequence variant, non coding transcript variant
rs772828460	AG>-	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs774774648	C>T	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, stop gained
rs775364547	CCCCCGGCTGTGGGAAGACGCTGCTGGCC>-	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs794726906	A>C,G,T	Likely-pathogenic	Non coding transcript variant, missense variant, initiator codon variant
rs797046003	->T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs863224220	C>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs863224223	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs863224924	T>CCAAGTCTGTA	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs864622094	T>C	Uncertain-significance, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs864622507	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs878854606	GATTATCTGAAGGTG>-	Pathogenic, likely-pathogenic	Splice donor variant, non coding transcript variant, intron variant, coding sequence variant
rs879253797	C>T	Pathogenic	Genic downstream transcript variant, 3 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs879253798	TC>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs912983346	G>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1060503425	GG>AGC	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1085307874	GAGAGCGGCTGCGCACC>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1131691968	C>T	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1217391623	G>-	Pathogenic	3 prime UTR variant, frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs1229749476	A>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1235945505	G>A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1314660313	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1319347094	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs1373388852	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1412575396	G>C,T	Likely-pathogenic	Splice donor variant
rs1555617559	C>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1567934754	A>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1597597437	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1597661607	TGG>-	Pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1597665063	CAG>-	Likely-pathogenic, pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1597665080	G>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant

Show/Hide all(142)

miRTarBase ID	miRNA	Experiments	Reference
MIRT739161	hsa-miR-1225-3p	HITS-CLIP	33718276
MIRT1383864	hsa-miR-1207-3p	CLIP-seq
MIRT1383865	hsa-miR-1208	CLIP-seq
MIRT739160	hsa-miR-1233	CLIP-seq
MIRT1383866	hsa-miR-1266	CLIP-seq
MIRT1383867	hsa-miR-130a	CLIP-seq
MIRT1383868	hsa-miR-130b	CLIP-seq
MIRT1383869	hsa-miR-1909	CLIP-seq
MIRT1383870	hsa-miR-19a	CLIP-seq
MIRT1383871	hsa-miR-19b	CLIP-seq
MIRT1383872	hsa-miR-224	CLIP-seq
MIRT1383873	hsa-miR-301a	CLIP-seq
MIRT1383874	hsa-miR-301b	CLIP-seq
MIRT1383875	hsa-miR-3666	CLIP-seq
MIRT1383876	hsa-miR-3944-5p	CLIP-seq
MIRT1383877	hsa-miR-4295	CLIP-seq
MIRT1383878	hsa-miR-4330	CLIP-seq
MIRT1383879	hsa-miR-4518	CLIP-seq
MIRT1383880	hsa-miR-454	CLIP-seq
MIRT739159	hsa-miR-4687-5p	CLIP-seq
MIRT1383881	hsa-miR-4695-3p	CLIP-seq
MIRT1383882	hsa-miR-4765	CLIP-seq
MIRT1383883	hsa-miR-510	CLIP-seq
MIRT1383884	hsa-miR-519a	CLIP-seq
MIRT1383885	hsa-miR-519b-3p	CLIP-seq
MIRT1383886	hsa-miR-519c-3p	CLIP-seq
MIRT1383887	hsa-miR-1245b-5p	CLIP-seq
MIRT1383888	hsa-miR-1321	CLIP-seq
MIRT1383889	hsa-miR-1915	CLIP-seq
MIRT1383890	hsa-miR-3065-5p	CLIP-seq
MIRT1383891	hsa-miR-3142	CLIP-seq
MIRT1383892	hsa-miR-3179	CLIP-seq
MIRT1383893	hsa-miR-4650-5p	CLIP-seq
MIRT1383894	hsa-miR-4704-3p	CLIP-seq
MIRT1383895	hsa-miR-4726-3p	CLIP-seq
MIRT1383896	hsa-miR-4739	CLIP-seq
MIRT1383897	hsa-miR-4756-5p	CLIP-seq
MIRT1557087	hsa-miR-3135	CLIP-seq
MIRT1557088	hsa-miR-3612	CLIP-seq
MIRT1557089	hsa-miR-3689d	CLIP-seq
MIRT1557090	hsa-miR-4266	CLIP-seq
MIRT1557091	hsa-miR-4443	CLIP-seq
MIRT1557092	hsa-miR-4695-5p	CLIP-seq
MIRT1557093	hsa-miR-4779	CLIP-seq
MIRT1557094	hsa-miR-485-5p	CLIP-seq
MIRT1557095	hsa-miR-610	CLIP-seq
MIRT1557096	hsa-miR-650	CLIP-seq
MIRT1383887	hsa-miR-1245b-5p	CLIP-seq
MIRT1383890	hsa-miR-3065-5p	CLIP-seq
MIRT1383891	hsa-miR-3142	CLIP-seq
MIRT1383894	hsa-miR-4704-3p	CLIP-seq
MIRT1383865	hsa-miR-1208	CLIP-seq
MIRT2337589	hsa-miR-141	CLIP-seq
MIRT1383869	hsa-miR-1909	CLIP-seq
MIRT2337590	hsa-miR-200a	CLIP-seq
MIRT2337591	hsa-miR-214	CLIP-seq
MIRT2337592	hsa-miR-217	CLIP-seq
MIRT1383872	hsa-miR-224	CLIP-seq
MIRT2337593	hsa-miR-324-5p	CLIP-seq
MIRT2337594	hsa-miR-34a	CLIP-seq
MIRT2337595	hsa-miR-34c-5p	CLIP-seq
MIRT2337596	hsa-miR-3619-5p	CLIP-seq
MIRT2337597	hsa-miR-3910	CLIP-seq
MIRT1383876	hsa-miR-3944-5p	CLIP-seq
MIRT1383878	hsa-miR-4330	CLIP-seq
MIRT2337598	hsa-miR-449a	CLIP-seq
MIRT2337599	hsa-miR-449b	CLIP-seq
MIRT2337600	hsa-miR-455-3p	CLIP-seq
MIRT2337601	hsa-miR-4717-3p	CLIP-seq
MIRT2337602	hsa-miR-486-3p	CLIP-seq
MIRT2337603	hsa-miR-634	CLIP-seq
MIRT2337604	hsa-miR-761	CLIP-seq
MIRT2337605	hsa-miR-767-5p	CLIP-seq
MIRT2337606	hsa-miR-885-3p	CLIP-seq
MIRT2631181	hsa-miR-1179	CLIP-seq
MIRT2631182	hsa-miR-1197	CLIP-seq
MIRT2631183	hsa-miR-1270	CLIP-seq
MIRT1383869	hsa-miR-1909	CLIP-seq
MIRT2337591	hsa-miR-214	CLIP-seq
MIRT2631184	hsa-miR-3127-3p	CLIP-seq
MIRT2631185	hsa-miR-3135b	CLIP-seq
MIRT2631186	hsa-miR-3180	CLIP-seq
MIRT2631187	hsa-miR-3180-3p	CLIP-seq
MIRT2631188	hsa-miR-3196	CLIP-seq
MIRT2337594	hsa-miR-34a	CLIP-seq
MIRT2337595	hsa-miR-34c-5p	CLIP-seq
MIRT2337596	hsa-miR-3619-5p	CLIP-seq
MIRT2631189	hsa-miR-3918	CLIP-seq
MIRT2631190	hsa-miR-4284	CLIP-seq
MIRT2631191	hsa-miR-4419a	CLIP-seq
MIRT2337598	hsa-miR-449a	CLIP-seq
MIRT2337599	hsa-miR-449b	CLIP-seq
MIRT2631192	hsa-miR-4510	CLIP-seq
MIRT2337600	hsa-miR-455-3p	CLIP-seq
MIRT2631193	hsa-miR-4683	CLIP-seq
MIRT2631194	hsa-miR-4710	CLIP-seq
MIRT2337601	hsa-miR-4717-3p	CLIP-seq
MIRT2631195	hsa-miR-4792	CLIP-seq
MIRT2337602	hsa-miR-486-3p	CLIP-seq
MIRT2631196	hsa-miR-513a-5p	CLIP-seq
MIRT2631197	hsa-miR-517a	CLIP-seq
MIRT2631198	hsa-miR-517b	CLIP-seq
MIRT2631199	hsa-miR-517c	CLIP-seq
MIRT2631200	hsa-miR-620	CLIP-seq
MIRT2337604	hsa-miR-761	CLIP-seq
MIRT2337605	hsa-miR-767-5p	CLIP-seq
MIRT2631201	hsa-miR-873	CLIP-seq
MIRT2337606	hsa-miR-885-3p	CLIP-seq
MIRT2631181	hsa-miR-1179	CLIP-seq
MIRT2631182	hsa-miR-1197	CLIP-seq
MIRT2631183	hsa-miR-1270	CLIP-seq
MIRT1383869	hsa-miR-1909	CLIP-seq
MIRT2337591	hsa-miR-214	CLIP-seq
MIRT2631184	hsa-miR-3127-3p	CLIP-seq
MIRT2631185	hsa-miR-3135b	CLIP-seq
MIRT2631186	hsa-miR-3180	CLIP-seq
MIRT2631187	hsa-miR-3180-3p	CLIP-seq
MIRT2631188	hsa-miR-3196	CLIP-seq
MIRT2337594	hsa-miR-34a	CLIP-seq
MIRT2337595	hsa-miR-34c-5p	CLIP-seq
MIRT2337596	hsa-miR-3619-5p	CLIP-seq
MIRT2631189	hsa-miR-3918	CLIP-seq
MIRT2631190	hsa-miR-4284	CLIP-seq
MIRT2631191	hsa-miR-4419a	CLIP-seq
MIRT2337598	hsa-miR-449a	CLIP-seq
MIRT2337599	hsa-miR-449b	CLIP-seq
MIRT2631192	hsa-miR-4510	CLIP-seq
MIRT2337600	hsa-miR-455-3p	CLIP-seq
MIRT2631193	hsa-miR-4683	CLIP-seq
MIRT2631194	hsa-miR-4710	CLIP-seq
MIRT2337601	hsa-miR-4717-3p	CLIP-seq
MIRT2631195	hsa-miR-4792	CLIP-seq
MIRT2337602	hsa-miR-486-3p	CLIP-seq
MIRT2631196	hsa-miR-513a-5p	CLIP-seq
MIRT2631197	hsa-miR-517a	CLIP-seq
MIRT2631198	hsa-miR-517b	CLIP-seq
MIRT2631199	hsa-miR-517c	CLIP-seq
MIRT2631200	hsa-miR-620	CLIP-seq
MIRT2337604	hsa-miR-761	CLIP-seq
MIRT2337605	hsa-miR-767-5p	CLIP-seq
MIRT2631201	hsa-miR-873	CLIP-seq
MIRT2337606	hsa-miR-885-3p	CLIP-seq

Show/Hide all(42)

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	28396416, 31097542
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	14623864, 16189514, 21516116, 25416956, 26387735, 28514442, 32296183, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	9635427
GO:0005743	Component	Mitochondrial inner membrane	IDA	9635427
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005745	Component	M-AAA complex	IBA
GO:0005745	Component	M-AAA complex	IDA	28396416
GO:0005745	Component	M-AAA complex	IEA
GO:0005757	Component	Mitochondrial permeability transition pore complex	IDA	26387735
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	TAS	9635427
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007399	Process	Nervous system development	TAS	9635427
GO:0008089	Process	Anterograde axonal transport	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008233	Function	Peptidase activity	TAS	9635427
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0034982	Process	Mitochondrial protein processing	IBA
GO:0036444	Process	Calcium import into the mitochondrion	IDA	22925203, 32494073
GO:0036444	Process	Calcium import into the mitochondrion	IMP	22925203, 23755363, 27099988, 27642048
GO:0046872	Function	Metal ion binding	IEA
GO:0046902	Process	Regulation of mitochondrial membrane permeability	IEA
GO:0046902	Process	Regulation of mitochondrial membrane permeability	IMP	26387735
GO:0051082	Function	Unfolded protein binding	TAS	9635427
GO:0110097	Process	Regulation of calcium import into the mitochondrion	IDA	28396416, 31097542
GO:1902686	Process	Mitochondrial outer membrane permeabilization involved in programmed cell death	IEA
GO:1902686	Process	Mitochondrial outer membrane permeabilization involved in programmed cell death	IMP	26387735
GO:1904115	Component	Axon cytoplasm	IEA

MIM	HGNC	e!Ensembl
602783	11237	ENSG00000197912

Protein

UniProt ID

Q9UQ90

Protein name

Mitochondrial inner membrane m-AAA protease component paraplegin (EC 3.4.24.-) (EC 3.6.-.-) (Cell matrix adhesion regulator) (Paraplegin) (Spastic paraplegia 7 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:11549317, PubMed:28396416, PubMed:31097542, Pu

PDB

2QZ4

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06480	FtsH_ext	142 → 242	FtsH Extracellular	Family
PF00004	AAA	345 → 479	ATPase family associated with various cellular activities (AAA)	Domain
PF17862	AAA_lid_3	506 → 547	AAA+ lid domain	Domain
PF01434	Peptidase_M41	561 → 746	Peptidase family M41	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous.

Sequence

MAVLLLLLRALRRGPGPGPRPLWGPGPAWSPGFPARPGRGRPYMASRPPGDLAEAGGRAL
QSLQLRLLTPTFEGINGLLLKQHLVQNPVRLWQLLGGTFYFNTSRLKQKNKEKDKSKGKA
PEEDEEERRRRERDDQMYRERLRTLLVIAVVMSLLNALSTSGGSISWNDFVHEMLAKGEV
QRVQVVPESDVVEVYLHPGAVVFGRPRLALMYRMQVANIDKFEEKLRAAEDELNIEAKDR
IPVSYKRTGFFGNALYSVGMTAVGLAILWYVFRLAGMTGREGGFSAFNQLKMARFTIVDG
KMGKGVSFKDVAGMHEAKLEVREFVDYLKSPERFLQLGAKVPKGALLLGPPGCGKTLLAK
AVATEAQVPFLAMAGPEFVEVIGGLGAARVRSLFKEARARAPCIVYIDEIDAVGKKRSTT
MSGFSNTEEEQTLNQLLVEMDGMGTTDHVIVLASTNRADILDGALMRPGRLDRHVFIDLP
TLQERREIFEQHLKSLKLTQSSTFYSQRLAELTPGFSGADIANICNEAALHAAREGHTSV
HTLNFEYAVERVLAGTAKKSKILSKEEQKVVAFHESGHALVGWMLEHTEAVMKVSITPRT
NAALGFAQMLPRDQHLFTKEQLFERMCMALGGRASEALSFNEVTSGAQDDLRKVTRIAYS
MVKQFGMAPGIGPISFPEAQEGLMGIGRRPFSQGLQQMMDHEARLLVAKAYRHTEKVLQD
NLDKLQALANALLEKEVINYEDIEALIGPPPHGPKKMIAPQRWIDAQREKQDLGEEETEE
TQQPPLGGEEPTWPK

Sequence length

795

Interactions

View interactions

	Reactome
			Processing of SMDT1

Show/Hide Causal Diseases (11)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Hereditary spastic paraplegia	Hereditary spastic paraplegia, Hereditary spastic paraplegia 7	rs141644720, rs766155407, rs797046003, rs748255454, rs748309520, rs764791523, rs121918358, rs1373388852, rs1567934181, rs746053679, rs138671904, rs1229749476, rs2058358025, rs372981030, rs72547551 View all (38 more)	N/A
Mental retardation	intellectual disability	rs1597665063	N/A
Optic Atrophy	optic atrophy	rs764791523	N/A
retinal dystrophy	Retinal dystrophy	rs121918358, rs141659620	N/A
Spastic Ataxia	spastic ataxia	rs752623413	N/A
Distal Spinal Muscular Atrophy	distal spinal muscular atrophy	rs768823392	N/A
Fatal Mitochondrial Disease	Mitochondrial disease	rs797046003, rs369227537	N/A
Hereditary Pancreatitis	hereditary pancreatitis	rs369503365	N/A
Neurodegeneration-Blindness-Ataxia-Spasticity Syndrome	early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome	rs746053679	N/A
Polyneuropathy	polyneuropathy	rs1597597437	N/A
proximal spinal muscular atrophy	Proximal spinal muscular atrophy	rs121918358	N/A

Show/Hide Unknown Diseases (6)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Melanoma	Melanoma	N/A	N/A	GWAS
Myocardial Infarction	Myocardial infarction	N/A	N/A	GWAS
optic nerve hypoplasia	Optic nerve hypoplasia	N/A	N/A	ClinVar
Schizophrenia	Schizophrenia	N/A	N/A	GWAS
Spastic paraplegia	Spastic Paraplegia, Recessive	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (64)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Alzheimer Disease	Associate	39177846
Amyotrophic Lateral Sclerosis	Associate	32447552
Aortic Aneurysm Familial Abdominal 1	Associate	30252181
Aphasia Broca	Associate	24727571
Ataxia	Associate	29057857, 29915382, 30098094, 30497413, 31068484, 31854126, 32893728, 34433436
Autistic Disorder	Associate	32893728
Breast Neoplasms	Associate	9413939
Cerebellar Ataxia	Associate	23065789, 23857099, 29482223, 30098094, 31068484
Cerebellar Diseases	Associate	23065789, 32447552, 32893728
Charcot Marie Tooth Disease	Associate	38549004
Colorectal Neoplasms	Associate	27609023
Communication Disorders	Associate	27557734
CoQ responsive OXPHOS deficiency	Associate	9635427
Coronary Artery Disease	Associate	27164068, 31044621
Deglutition Disorders	Associate	24727571
Dysarthria	Associate	31068484
Dystonia Dopa responsive	Associate	30252181
Flail Chest	Associate	32447552
Frontotemporal Dementia	Associate	32447552
Fused Kidney	Associate	24727571
Gait Ataxia	Associate	32893728
Gait Disorders Neurologic	Associate	23065789
Genetic Diseases Inborn	Associate	31854126
Gliosis	Associate	26506339
Heart Diseases	Associate	32893728
Hereditary Sensory and Autonomic Neuropathy Type Ie	Associate	31068484
Inclusion Body Myopathy 3 Autosomal Dominant	Associate	24727571
Lead Poisoning Nervous System	Associate	39978794
Lewy Body Disease	Associate	26506339
Mitochondrial Diseases	Associate	24466038, 24727571, 34507444, 39978794
Motor Neuron Disease	Associate	37133535
Mouth Diseases	Associate	39978794
Multiple System Atrophy	Associate	34433436
Muscle Spasticity	Associate	23065789, 24466038, 24727571, 31068484
Muscular Atrophy	Associate	31068484
Neoplasms	Associate	9413939
Neoplastic Syndromes Hereditary	Associate	23065789
Nerve Degeneration	Associate	26506339, 34433436
Neurodegenerative Diseases	Associate	32893728, 9635427
Neuroinflammatory Diseases	Associate	33069246
Ophthalmoplegia	Associate	31068484
Ophthalmoplegia Chronic Progressive External	Associate	24727571
Optic Atrophy	Associate	30252181, 31068484
Optic Nerve Diseases	Associate	23065789
Paraparesis Spastic	Associate	23065789, 32893728, 34507444
Paraplegia	Associate	23065789, 23857099, 24466038, 27217339, 27544499, 31854126, 9635427
Parkinson Disease	Associate	27217339, 30537300
Parkinson Disease Secondary	Associate	30252181, 34507444
Peripheral Nervous System Diseases	Associate	23065789, 26556829
Plaque Amyloid	Associate	26506339
Polyneuropathies	Associate	32999401
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions Autosomal Recessive	Associate	24466038
Ptosis Hereditary Congenital 2	Associate	24727571
Retinal Detachment	Associate	32893728
Spastic Ataxia	Associate	23857099, 24727571, 26506339, 30098094, 30252181, 37578187, 39978794
Spastic Paraplegia Hereditary	Associate	14623864, 26506339, 26556829, 29057857, 30098094, 30252181, 30497413, 32447552, 34404843, 34433436, 34983064, 35331153, 36139378, 37120112, 37133535, 9635427 View all (1 more)
Spastic paraplegia type 5A recessive	Associate	30098094
Spastic Paraplegia Type 7	Associate	24466038, 27557734, 34509920
Sphincter of Oddi Dysfunction	Associate	31068484
Spinocerebellar ataxia 28	Associate	30252181
Spinocerebellar Ataxias	Associate	30252181
Spinocerebellar Degenerations	Associate	32893728, 34445196
Supranuclear Palsy Progressive	Associate	26506339
Urinary Fistula	Associate	30098094

SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin)