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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10845
Gene name Gene Name - the full gene name approved by the HGNC.	Caseinolytic mitochondrial matrix peptidase chaperone subunit X
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CLPX
Synonyms (NCBI Gene) Gene synonyms aliases	EPP2
Disease Acronyms (UniProt) Disease acronyms from UniProt database	EPP2
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q22.31
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is part of a protease found in mitochondria. This protease is ATP-dependent and targets specific proteins for degradation. The protease consists of two heptameric rings of the CLPP catalytic subunit sandwiched between two

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1555412542	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant

Show/Hide all(90)

miRTarBase ID	miRNA	Experiments	Reference
MIRT032371	hsa-let-7b-5p	Proteomics	18668040
MIRT704588	hsa-miR-4438	HITS-CLIP	23313552
MIRT704587	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT704586	hsa-miR-4269	HITS-CLIP	23313552
MIRT704585	hsa-miR-6715b-5p	HITS-CLIP	23313552
MIRT704584	hsa-miR-4740-3p	HITS-CLIP	23313552
MIRT704583	hsa-miR-4722-3p	HITS-CLIP	23313552
MIRT704582	hsa-miR-6727-3p	HITS-CLIP	23313552
MIRT704581	hsa-miR-6747-3p	HITS-CLIP	23313552
MIRT704580	hsa-miR-1976	HITS-CLIP	23313552
MIRT704579	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT704578	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT704577	hsa-miR-6804-3p	HITS-CLIP	23313552
MIRT704576	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT704575	hsa-miR-5095	HITS-CLIP	23313552
MIRT704574	hsa-miR-7151-3p	HITS-CLIP	23313552
MIRT704573	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT704572	hsa-miR-4453	HITS-CLIP	23313552
MIRT704571	hsa-miR-4538	HITS-CLIP	23313552
MIRT704570	hsa-miR-1273g-3p	HITS-CLIP	23313552
MIRT704569	hsa-miR-4793-3p	HITS-CLIP	23313552
MIRT704568	hsa-miR-4325	HITS-CLIP	23313552
MIRT447115	hsa-miR-4511	PAR-CLIP	22100165
MIRT447114	hsa-miR-939-3p	PAR-CLIP	22100165
MIRT447113	hsa-miR-6852-5p	PAR-CLIP	22100165
MIRT447112	hsa-miR-6742-3p	PAR-CLIP	22100165
MIRT447111	hsa-miR-204-3p	PAR-CLIP	22100165
MIRT447110	hsa-miR-4646-5p	PAR-CLIP	22100165
MIRT447109	hsa-miR-617	PAR-CLIP	22100165
MIRT447108	hsa-miR-4747-5p	PAR-CLIP	22100165
MIRT447107	hsa-miR-5196-5p	PAR-CLIP	22100165
MIRT447106	hsa-miR-1343-3p	PAR-CLIP	22100165
MIRT447104	hsa-miR-6783-3p	PAR-CLIP	22100165
MIRT704588	hsa-miR-4438	HITS-CLIP	23313552
MIRT704587	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT704586	hsa-miR-4269	HITS-CLIP	23313552
MIRT704585	hsa-miR-6715b-5p	HITS-CLIP	23313552
MIRT704584	hsa-miR-4740-3p	HITS-CLIP	23313552
MIRT704583	hsa-miR-4722-3p	HITS-CLIP	23313552
MIRT704582	hsa-miR-6727-3p	HITS-CLIP	23313552
MIRT704581	hsa-miR-6747-3p	HITS-CLIP	23313552
MIRT704580	hsa-miR-1976	HITS-CLIP	23313552
MIRT704579	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT704578	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT704577	hsa-miR-6804-3p	HITS-CLIP	23313552
MIRT704576	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT704575	hsa-miR-5095	HITS-CLIP	23313552
MIRT704574	hsa-miR-7151-3p	HITS-CLIP	23313552
MIRT704573	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT704572	hsa-miR-4453	HITS-CLIP	23313552
MIRT704571	hsa-miR-4538	HITS-CLIP	23313552
MIRT704570	hsa-miR-1273g-3p	HITS-CLIP	23313552
MIRT704569	hsa-miR-4793-3p	HITS-CLIP	23313552
MIRT704568	hsa-miR-4325	HITS-CLIP	23313552
MIRT447115	hsa-miR-4511	PAR-CLIP	22100165
MIRT447114	hsa-miR-939-3p	PAR-CLIP	22100165
MIRT447113	hsa-miR-6852-5p	PAR-CLIP	22100165
MIRT447112	hsa-miR-6742-3p	PAR-CLIP	22100165
MIRT447111	hsa-miR-204-3p	PAR-CLIP	22100165
MIRT447110	hsa-miR-4646-5p	PAR-CLIP	22100165
MIRT447109	hsa-miR-617	PAR-CLIP	22100165
MIRT447108	hsa-miR-4747-5p	PAR-CLIP	22100165
MIRT447107	hsa-miR-5196-5p	PAR-CLIP	22100165
MIRT447106	hsa-miR-1343-3p	PAR-CLIP	22100165
MIRT447104	hsa-miR-6783-3p	PAR-CLIP	22100165
MIRT897738	hsa-miR-300	CLIP-seq
MIRT897739	hsa-miR-3120-3p	CLIP-seq
MIRT897740	hsa-miR-3143	CLIP-seq
MIRT897741	hsa-miR-3674	CLIP-seq
MIRT897742	hsa-miR-381	CLIP-seq
MIRT897743	hsa-miR-3942-5p	CLIP-seq
MIRT897744	hsa-miR-410	CLIP-seq
MIRT897745	hsa-miR-425	CLIP-seq
MIRT897746	hsa-miR-4446-5p	CLIP-seq
MIRT897747	hsa-miR-4517	CLIP-seq
MIRT897748	hsa-miR-4645-3p	CLIP-seq
MIRT897749	hsa-miR-4666-3p	CLIP-seq
MIRT897750	hsa-miR-4668-3p	CLIP-seq
MIRT897751	hsa-miR-4703-5p	CLIP-seq
MIRT897752	hsa-miR-4732-5p	CLIP-seq
MIRT897753	hsa-miR-543	CLIP-seq
MIRT897754	hsa-miR-802	CLIP-seq
MIRT897750	hsa-miR-4668-3p	CLIP-seq
MIRT2202012	hsa-miR-1252	CLIP-seq
MIRT2202013	hsa-miR-320a	CLIP-seq
MIRT2202014	hsa-miR-320b	CLIP-seq
MIRT2202015	hsa-miR-320c	CLIP-seq
MIRT2202016	hsa-miR-320d	CLIP-seq
MIRT2202017	hsa-miR-4429	CLIP-seq
MIRT2386217	hsa-miR-942	CLIP-seq

Show/Hide all(26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004176	Function	ATP-dependent peptidase activity	IDA	16115876
GO:0005515	Function	Protein binding	IPI	11923310, 15522782, 16115876
GO:0005524	Function	ATP binding	IBA	21873635
GO:0005524	Function	ATP binding	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	IDA	11003706
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0005759	Component	Mitochondrial matrix	IBA	21873635
GO:0005759	Component	Mitochondrial matrix	IDA	10525407
GO:0005829	Component	Cytosol	IDA
GO:0006457	Process	Protein folding	IEA
GO:0006508	Process	Proteolysis	IBA	21873635
GO:0008270	Function	Zinc ion binding	IEA
GO:0009368	Component	Endopeptidase Clp complex	IDA	11923310, 22710082
GO:0009841	Component	Mitochondrial endopeptidase Clp complex	IDA	16115876
GO:0010952	Process	Positive regulation of peptidase activity	IEA
GO:0016504	Function	Peptidase activator activity	IDA	11923310, 16115876
GO:0016887	Function	ATPase activity	IBA	21873635
GO:0016887	Function	ATPase activity	IDA	22710082
GO:0016887	Function	ATPase activity	ISS
GO:0030163	Process	Protein catabolic process	IBA	21873635
GO:0042645	Component	Mitochondrial nucleoid	IDA	18063578
GO:0046034	Process	ATP metabolic process	IDA	22710082
GO:0046983	Function	Protein dimerization activity	IEA
GO:0051082	Function	Unfolded protein binding	IEA
GO:0051603	Process	Proteolysis involved in cellular protein catabolic process	IDA	16115876

MIM	HGNC	e!Ensembl
615611	2088	ENSG00000166855

Protein

UniProt ID

O76031

Protein name

ATP-dependent clpX-like chaperone, mitochondrial (EC 3.6.4.10) (ATP-dependent Clp protease ATP-binding subunit clpX-like, mitochondrial) (Caseinolytic mitochondrial matrix peptidase chaperone subunit X)

Protein function

ATP-dependent chaperone that functions as an unfoldase. As part of the ClpXP protease complex, it recognizes specific protein substrates, unfolds them using energy derived from ATP hydrolysis, and then translocates them to the proteolytic subuni

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07724	AAA_2	284 → 503	AAA domain (Cdc48 subfamily)	Domain
PF10431	ClpB_D2-small	509 → 593	C-terminal, D2-small domain, of ClpB protein	Domain

Tissue specificity

TISSUE SPECIFICITY: Higher expression in skeletal muscle and heart and to a lesser extent in liver, brain, placenta, lung, kidney and pancreas. {ECO:0000269|PubMed:11003706}.

Sequence

MPSCGACTCGAAAVRLITSSLASAQRGISGGRIHMSVLGRLGTFETQILQRAPLRSFTET
PAYFASKDGISKDGSGDGNKKSASEGSSKKSGSGNSGKGGNQLRCPKCGDLCTHVETFVS
STRFVKCEKCHHFFVVLSEADSKKSIIKEPESAAEAVKLAFQQKPPPPPKKIYNYLDKYV
VGQSFAKKVLSVAVYNHYKRIYNNIPANLRQQAEVEKQTSLTPRELEIRRREDEYRFTKL
LQIAGISPHGNALGASMQQQVNQQIPQEKRGGEVLDSSHDDIKLEKSNILLLGPTGSGKT
LLAQTLAKCLDVPFAICDCTTLTQAGYVGEDIESVIAKLLQDANYNVEKAQQGIVFLDEV
DKIGSVPGIHQLRDVGGEGVQQGLLKLLEGTIVNVPEKNSRKLRGETVQVDTTNILFVAS
GAFNGLDRIISRRKNEKYLGFGTPSNLGKGRRAAAAADLANRSGESNTHQDIEEKDRLLR
HVEARDLIEFGMIPEFVGRLPVVVPLHSLDEKTLVQILTEPRNAVIPQYQALFSMDKCEL
NVTEDALKAIARLALERKTGARGLRSIMEKLLLEPMFEVPNSDIVCVEVDKEVVEGKKEP
GYIRAPTKESSEEEYDSGVEEEGWPRQADAANS

Sequence length

633

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Protoporphyria, erythropoietic	PROTOPORPHYRIA, ERYTHROPOIETIC, 2	rs118204039, rs786205245, rs202147607, rs118204040, rs149067146, rs786205246, rs879255507, rs764466739, rs786205247, rs786205248, rs397514476, rs370708663, rs150146721, rs1555412542, rs765518889 View all (3 more)	28874591, 25957689

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Protoporphyria, Erythropoietic	protoporphyria, erythropoietic, 2			GenCC

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text Mining
Cystic Fibrosis	Associate	18599839
Neoplasms	Associate	26675528, 36675163
Neuroblastoma	Associate	36675163
Porphyrias	Associate	28874591
Protoporphyria Erythropoietic	Associate	28874591

CLPX (caseinolytic mitochondrial matrix peptidase chaperone subunit X)