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	6687
Gene name	SPG7 matrix AAA peptidase subunit, paraplegin
Gene symbol	SPG7
Synonyms (NCBI Gene)	CARCMARPGNSPG5C
Chromosome	16
Chromosome location	16q24.3
Summary	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

142

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

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

1001

Show/Hide Causal Diseases (25)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebral cortical atrophy	Pathogenic	rs768823392	RCV000626835
Cervical cancer	Likely pathogenic; Pathogenic	rs141644720	RCV005912224
Distal spinal muscular atrophy	Pathogenic	rs768823392	RCV000664257
Dysarthria	Pathogenic	rs768823392	RCV000626835
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome	Likely pathogenic; Pathogenic	rs746053679	RCV003447529
Gait ataxia	Pathogenic	rs768823392	RCV000626836
Hereditary ataxia	Likely pathogenic; Pathogenic	rs369227537, rs121918358	RCV005625350 RCV005624679
Hereditary pancreatitis	Likely pathogenic; Pathogenic	rs369503365	RCV004526729
Hereditary spastic paraplegia	Likely pathogenic; Pathogenic	rs769602042, rs146115797, rs369227537, rs372981030, rs752623413, rs748309520, rs72547551, rs752989523, rs879253797, rs121918358, rs141659620, rs762795756, rs774774648, rs562890289, rs760818649 View all (5 more)	RCV001848235 RCV001848240 RCV001847793 RCV001847888 RCV001847889 RCV001847907 RCV001847906 RCV001847908 RCV001847905 RCV001847594 RCV001847595 RCV001848041 RCV001848059 RCV000515851 RCV000824802 RCV000516115 RCV000515979 RCV000615294 RCV001847130 RCV001847223
Hereditary spastic paraplegia 7	Likely pathogenic; Pathogenic	rs2058661636, rs2152392876, rs776380988, rs2058358241, rs1452259575, rs1332265538, rs2152403474, rs2152400490, rs370777371, rs2152411070, rs1567933730, rs1031614168, rs2058667949, rs146115797, rs1597635592 View all (95 more)	RCV004815326 RCV001647143 RCV001647142 RCV001331023 RCV001378304 RCV001382565 RCV001731132 RCV001785018 RCV001785019 RCV001785020 RCV001783796 RCV004764972 RCV001823323 RCV003617944 RCV002035895 RCV002048850 RCV001938406 RCV001884295 RCV001905081 RCV002007581 RCV001942142 RCV001951115 RCV001946569 RCV002052061 RCV002283905 RCV002289181 RCV000168257 RCV001852108 RCV002574321 RCV002571124 RCV000194085 RCV002872605 RCV000697812 RCV000500664 RCV000196592 RCV000200425 RCV000198892 RCV000236850 RCV000206709 RCV000235251 RCV000236261 RCV000236780 RCV003034792 RCV000007216 RCV000007217 RCV000007218 RCV000007221 RCV000007222 RCV000205117 RCV000232876 RCV003388209 RCV003388210 RCV003388211 RCV003388212 RCV001855011 RCV001391423 RCV000276883 RCV003313013 RCV003314272 RCV003331873 RCV003388959 RCV003447699 RCV003506846 RCV003618303 RCV004818487 RCV001865382 RCV000461092 RCV000460135 RCV000461245 RCV000472422 RCV000467232 RCV000465046 RCV000475192 RCV001391524 RCV003507282 RCV000554743 RCV000528473 RCV001391430 RCV000585677 RCV000989664 RCV000625997 RCV001380103 RCV000640984 RCV000640978 RCV000640981 RCV001855358 RCV000698570 RCV000786074 RCV000761358 RCV000800813 RCV001391422 RCV000989666 RCV000995648 RCV001860602 RCV001063502 RCV001060596 RCV001760064 RCV001220525 RCV001201827 RCV001221055 RCV001231276 RCV001235713 RCV001391421 RCV001391424 RCV001391426 RCV001391427 RCV001391428 RCV001391519 RCV001391520 RCV001391521 RCV001391522 RCV001391525 RCV001391526 RCV001391529 RCV001391530
Intellectual disability	Likely pathogenic	rs1597665063	RCV000850201
Malignant tumor of esophagus	Pathogenic	rs768823392	RCV005869473
Melanoma	Pathogenic	rs768823392	RCV005869474
Memory impairment	Pathogenic	rs768823392	RCV000626836
Mitochondrial disease	Likely pathogenic; Pathogenic	rs369227537, rs797046003	RCV000508922 RCV000508824
Optic atrophy	Pathogenic	rs764791523	RCV004786648
Polyneuropathy	Pathogenic	rs1597597437	RCV000850308
Proximal spinal muscular atrophy	Likely pathogenic; Pathogenic	rs121918358	RCV000664258
Retinal dystrophy	Likely pathogenic; Pathogenic	rs121918358, rs141659620	RCV004814852 RCV004814853
Seizure	Pathogenic	rs768823392	RCV000626836
Sensorimotor neuropathy	Likely pathogenic	rs1597665063	RCV001003620
Spastic ataxia	Likely pathogenic; Pathogenic	rs769258044, rs752623413, rs1597665063	RCV003329432 RCV001640295 RCV001003620
Spastic paraparesis	Pathogenic	rs768823392	RCV000626835
Spastic paraplegia	Pathogenic	rs768823392	RCV000626836
SPG7-related disorder	Likely pathogenic; Pathogenic	rs369227537, rs794726906, rs752623413, rs748309520, rs121918358, rs141659620, rs774774648, rs760818649, rs747503698, rs768136171	RCV003416049 RCV003416067 RCV003401074 RCV003897433 RCV004752689 RCV004752690 RCV003409411 RCV003401491 RCV003902651 RCV003403411

Show/Hide Unknown Diseases (25)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs863224924	-
Acute myeloid leukemia	Benign; Likely benign; Conflicting classifications of pathogenicity	rs80292600, rs74590011, rs61755320	RCV005886846 RCV005886854 RCV005888954
Cholangiocarcinoma	Benign	rs35463145	RCV005902237
Clear cell carcinoma of kidney	Benign; Likely benign; Conflicting classifications of pathogenicity	rs35749032, rs61755320	RCV005893549 RCV005888957
Colon adenocarcinoma	Likely benign	rs5818722	RCV005868385
Colorectal cancer	Likely benign	rs5818722	RCV005868389
Familial cancer of breast	Likely benign; Conflicting classifications of pathogenicity	rs370089344, rs863224213, rs61755320	RCV005932130 RCV005868082 RCV005888953
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	Conflicting classifications of pathogenicity	rs61755320	RCV002463623
Gastric cancer	Likely benign; Benign; Conflicting classifications of pathogenicity	rs114361295, rs74590011, rs61755320	RCV005917618 RCV005886857 RCV005888960
Hepatocellular carcinoma	Benign; Conflicting classifications of pathogenicity	rs4785690, rs61755320	RCV005921912 RCV005888955
Leukoencephalopathy with vanishing white matter 1	Uncertain significance; Conflicting classifications of pathogenicity	rs199789849, rs769602042, rs886043594	RCV005861238 RCV005861079 RCV005861101
Lung cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	rs80292600, rs35749032, rs61755320, rs35463145	RCV005886852 RCV005893552 RCV005888965 RCV005902238
Malignant lymphoma, large B-cell, diffuse	Likely benign; Conflicting classifications of pathogenicity	rs5818722, rs863224213	RCV005868388 RCV005868084
Nonpapillary renal cell carcinoma	Likely benign; Conflicting classifications of pathogenicity	rs5818722, rs863224213	RCV005868387 RCV005868083
Optic nerve hypoplasia	Conflicting classifications of pathogenicity	rs61755320	RCV000677252
Optic neuropathy	Conflicting classifications of pathogenicity	rs61755320	RCV006255135
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs80292600, rs61755320	RCV005886850 RCV005888961
Sarcoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs80292600, rs74590011, rs370954971, rs61755320	RCV005886849 RCV005886856 RCV005926145 RCV005888959
Spastic Paraplegia, Recessive	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	rs863224213, rs375330718, rs886052476, rs61755320	RCV000287344 RCV000317158 RCV000374122 RCV000270813
Spastic tetraparesis	Uncertain significance	rs1189687320	RCV001823952
Thymoma	Conflicting classifications of pathogenicity	rs61755320	RCV005888962
Thyroid cancer, nonmedullary, 1	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs80292600, rs35749032, rs779616855, rs61755320	RCV005886851 RCV005893551 RCV005926628 RCV005888963
Uterine carcinosarcoma	Benign; Likely benign	rs35749032	RCV005893550
Uterine corpus endometrial carcinoma	Likely benign; Benign; Conflicting classifications of pathogenicity	rs114361295, rs80292600, rs74590011, rs35749032, rs61755320	RCV005917619 RCV005886853 RCV005886858 RCV005893553 RCV005888966
Uveal melanoma	Conflicting classifications of pathogenicity	rs61755320	RCV005888958

Show/Hide Text Mining Associations (64)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)