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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	284439
Gene name	Solute carrier family 25 member 42
Gene symbol	SLC25A42
Synonyms (NCBI Gene)	MECREN
Chromosome	19
Chromosome location	19p13.11
Summary	This gene encodes a solute carrier family 25 protein. Solute carrier family 25 proteins are localized to mitochondria and play critical roles in the transport of molecules across the inner mitochondrial membrane. The encoded protein is a mitochondrial tra

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs864321624	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1247424432	T>A	Pathogenic	Splice donor variant
rs1568523935	C>G	Likely-pathogenic	Coding sequence variant, stop gained

156

Show/Hide all (156)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019909	hsa-miR-375	Microarray	20215506
MIRT710880	hsa-miR-551b-5p	HITS-CLIP	19536157
MIRT710879	hsa-miR-6750-3p	HITS-CLIP	19536157
MIRT710878	hsa-miR-6511a-3p	HITS-CLIP	19536157
MIRT710877	hsa-miR-6511b-3p	HITS-CLIP	19536157
MIRT530118	hsa-miR-5684	PAR-CLIP	22012620
MIRT530117	hsa-miR-2681-3p	PAR-CLIP	22012620
MIRT530116	hsa-miR-96-3p	PAR-CLIP	22012620
MIRT530115	hsa-miR-1224-3p	PAR-CLIP	22012620
MIRT530114	hsa-miR-532-3p	PAR-CLIP	22012620
MIRT530113	hsa-miR-1260a	PAR-CLIP	22012620
MIRT530112	hsa-miR-1260b	PAR-CLIP	22012620
MIRT530111	hsa-miR-4433b-5p	PAR-CLIP	22012620
MIRT710880	hsa-miR-551b-5p	HITS-CLIP	19536157
MIRT710879	hsa-miR-6750-3p	HITS-CLIP	19536157
MIRT710878	hsa-miR-6511a-3p	HITS-CLIP	19536157
MIRT710877	hsa-miR-6511b-3p	HITS-CLIP	19536157
MIRT530118	hsa-miR-5684	PAR-CLIP	22012620
MIRT530117	hsa-miR-2681-3p	PAR-CLIP	22012620
MIRT530116	hsa-miR-96-3p	PAR-CLIP	22012620
MIRT530115	hsa-miR-1224-3p	PAR-CLIP	22012620
MIRT530114	hsa-miR-532-3p	PAR-CLIP	22012620
MIRT530113	hsa-miR-1260a	PAR-CLIP	22012620
MIRT530112	hsa-miR-1260b	PAR-CLIP	22012620
MIRT530111	hsa-miR-4433b-5p	PAR-CLIP	22012620
MIRT1356924	hsa-miR-1204	CLIP-seq
MIRT1356925	hsa-miR-1207-5p	CLIP-seq
MIRT1356926	hsa-miR-1228	CLIP-seq
MIRT1356927	hsa-miR-1243	CLIP-seq
MIRT1356928	hsa-miR-1245b-5p	CLIP-seq
MIRT1356929	hsa-miR-1273f	CLIP-seq
MIRT1356930	hsa-miR-1285	CLIP-seq
MIRT1356931	hsa-miR-143	CLIP-seq
MIRT1356932	hsa-miR-147	CLIP-seq
MIRT1356933	hsa-miR-200b	CLIP-seq
MIRT1356934	hsa-miR-200c	CLIP-seq
MIRT1356935	hsa-miR-299-3p	CLIP-seq
MIRT1356936	hsa-miR-3130-3p	CLIP-seq
MIRT1356937	hsa-miR-3142	CLIP-seq
MIRT1356938	hsa-miR-3146	CLIP-seq
MIRT1356939	hsa-miR-3150b-3p	CLIP-seq
MIRT1356940	hsa-miR-3153	CLIP-seq
MIRT1356941	hsa-miR-3173-3p	CLIP-seq
MIRT1356942	hsa-miR-3187-3p	CLIP-seq
MIRT1356943	hsa-miR-3187-5p	CLIP-seq
MIRT1356944	hsa-miR-320a	CLIP-seq
MIRT1356945	hsa-miR-320b	CLIP-seq
MIRT1356946	hsa-miR-320c	CLIP-seq
MIRT1356947	hsa-miR-320d	CLIP-seq
MIRT1356948	hsa-miR-342-5p	CLIP-seq
MIRT1356949	hsa-miR-3654	CLIP-seq
MIRT1356950	hsa-miR-3689d	CLIP-seq
MIRT1356951	hsa-miR-3714	CLIP-seq
MIRT1356952	hsa-miR-378g	CLIP-seq
MIRT1356953	hsa-miR-3918	CLIP-seq
MIRT1356954	hsa-miR-3926	CLIP-seq
MIRT1356955	hsa-miR-429	CLIP-seq
MIRT1356956	hsa-miR-4314	CLIP-seq
MIRT1356957	hsa-miR-4429	CLIP-seq
MIRT1356958	hsa-miR-4434	CLIP-seq
MIRT1356959	hsa-miR-4440	CLIP-seq
MIRT1356960	hsa-miR-4474-3p	CLIP-seq
MIRT1356961	hsa-miR-4486	CLIP-seq
MIRT1356962	hsa-miR-4496	CLIP-seq
MIRT1356963	hsa-miR-4516	CLIP-seq
MIRT1356964	hsa-miR-4527	CLIP-seq
MIRT1356965	hsa-miR-4529-5p	CLIP-seq
MIRT1356966	hsa-miR-4531	CLIP-seq
MIRT1356967	hsa-miR-4640-5p	CLIP-seq
MIRT1356968	hsa-miR-4648	CLIP-seq
MIRT1356969	hsa-miR-4651	CLIP-seq
MIRT1356970	hsa-miR-4654	CLIP-seq
MIRT1356971	hsa-miR-4664-5p	CLIP-seq
MIRT1356972	hsa-miR-4668-5p	CLIP-seq
MIRT1356973	hsa-miR-4689	CLIP-seq
MIRT1356974	hsa-miR-4708-5p	CLIP-seq
MIRT1356975	hsa-miR-4726-5p	CLIP-seq
MIRT1356976	hsa-miR-4763-3p	CLIP-seq
MIRT1356977	hsa-miR-4764-3p	CLIP-seq
MIRT1356978	hsa-miR-4769-5p	CLIP-seq
MIRT1356979	hsa-miR-4770	CLIP-seq
MIRT1356980	hsa-miR-4784	CLIP-seq
MIRT1356981	hsa-miR-4793-3p	CLIP-seq
MIRT1356982	hsa-miR-508-5p	CLIP-seq
MIRT1356983	hsa-miR-541	CLIP-seq
MIRT1356984	hsa-miR-548s	CLIP-seq
MIRT1356985	hsa-miR-599	CLIP-seq
MIRT1356986	hsa-miR-608	CLIP-seq
MIRT1356987	hsa-miR-612	CLIP-seq
MIRT1356988	hsa-miR-616	CLIP-seq
MIRT1356989	hsa-miR-637	CLIP-seq
MIRT1356990	hsa-miR-654-5p	CLIP-seq
MIRT1356991	hsa-miR-661	CLIP-seq
MIRT1356992	hsa-miR-663b	CLIP-seq
MIRT1356993	hsa-miR-876-3p	CLIP-seq
MIRT1356994	hsa-miR-940	CLIP-seq
MIRT2105709	hsa-miR-1178	CLIP-seq
MIRT2105710	hsa-miR-1182	CLIP-seq
MIRT2105711	hsa-miR-1197	CLIP-seq
MIRT2105712	hsa-miR-1275	CLIP-seq
MIRT2105713	hsa-miR-1343	CLIP-seq
MIRT1356931	hsa-miR-143	CLIP-seq
MIRT1356932	hsa-miR-147	CLIP-seq
MIRT2105714	hsa-miR-1909	CLIP-seq
MIRT2105715	hsa-miR-1976	CLIP-seq
MIRT2105716	hsa-miR-214	CLIP-seq
MIRT2105717	hsa-miR-23a	CLIP-seq
MIRT2105718	hsa-miR-23b	CLIP-seq
MIRT2105719	hsa-miR-23c	CLIP-seq
MIRT2105720	hsa-miR-2467-3p	CLIP-seq
MIRT2105721	hsa-miR-31	CLIP-seq
MIRT2105722	hsa-miR-3619-5p	CLIP-seq
MIRT2105723	hsa-miR-3678-3p	CLIP-seq
MIRT1356950	hsa-miR-3689d	CLIP-seq
MIRT2105724	hsa-miR-3944-5p	CLIP-seq
MIRT2105725	hsa-miR-4291	CLIP-seq
MIRT2105726	hsa-miR-4327	CLIP-seq
MIRT2105727	hsa-miR-4433	CLIP-seq
MIRT2105728	hsa-miR-4447	CLIP-seq
MIRT2105729	hsa-miR-4459	CLIP-seq
MIRT2105730	hsa-miR-4472	CLIP-seq
MIRT2105731	hsa-miR-4525	CLIP-seq
MIRT2105732	hsa-miR-4646-5p	CLIP-seq
MIRT1356969	hsa-miR-4651	CLIP-seq
MIRT2105733	hsa-miR-4665-5p	CLIP-seq
MIRT2105734	hsa-miR-4723-5p	CLIP-seq
MIRT2105735	hsa-miR-4747-5p	CLIP-seq
MIRT2105736	hsa-miR-4768-3p	CLIP-seq
MIRT1356979	hsa-miR-4770	CLIP-seq
MIRT2105737	hsa-miR-4772-5p	CLIP-seq
MIRT2105738	hsa-miR-4773	CLIP-seq
MIRT2105739	hsa-miR-520d-5p	CLIP-seq
MIRT2105740	hsa-miR-524-5p	CLIP-seq
MIRT1356985	hsa-miR-599	CLIP-seq
MIRT2105741	hsa-miR-601	CLIP-seq
MIRT1356986	hsa-miR-608	CLIP-seq
MIRT2105742	hsa-miR-625	CLIP-seq
MIRT2105743	hsa-miR-761	CLIP-seq
MIRT2105744	hsa-miR-765	CLIP-seq
MIRT2105745	hsa-miR-922	CLIP-seq
MIRT2105716	hsa-miR-214	CLIP-seq
MIRT2330206	hsa-miR-296-3p	CLIP-seq
MIRT2330207	hsa-miR-3175	CLIP-seq
MIRT2105722	hsa-miR-3619-5p	CLIP-seq
MIRT2105725	hsa-miR-4291	CLIP-seq
MIRT2105734	hsa-miR-4723-5p	CLIP-seq
MIRT2105743	hsa-miR-761	CLIP-seq
MIRT2105745	hsa-miR-922	CLIP-seq
MIRT2105715	hsa-miR-1976	CLIP-seq
MIRT2394676	hsa-miR-3144-5p	CLIP-seq
MIRT2394677	hsa-miR-3191	CLIP-seq
MIRT2394678	hsa-miR-4456	CLIP-seq
MIRT2394679	hsa-miR-4652-5p	CLIP-seq
MIRT2394680	hsa-miR-491-5p	CLIP-seq
MIRT1356983	hsa-miR-541	CLIP-seq
MIRT1356990	hsa-miR-654-5p	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005347	Function	ATP transmembrane transporter activity	IDA	19429682
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	19429682
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0015217	Function	ADP transmembrane transporter activity	IDA	19429682
GO:0015228	Function	Coenzyme A transmembrane transporter activity	EXP	19429682
GO:0015228	Function	Coenzyme A transmembrane transporter activity	IDA	19429682
GO:0015866	Process	ADP transport	IDA	19429682
GO:0015867	Process	ATP transport	IDA	19429682
GO:0015939	Process	Pantothenate metabolic process	TAS
GO:0016020	Component	Membrane	IEA
GO:0035349	Process	Coenzyme A transmembrane transport	IDA	19429682
GO:0043262	Function	ADP phosphatase activity	IDA	19429682
GO:0055085	Process	Transmembrane transport	IEA
GO:0080121	Process	AMP transport	IDA	19429682
GO:0080122	Function	AMP transmembrane transporter activity	IDA	19429682

MIM	HGNC	e!Ensembl
610823	28380	ENSG00000181035

Q86VD7

Protein name

Mitochondrial coenzyme A transporter SLC25A42 (Solute carrier family 25 member 42)

Protein function

Mitochondrial carrier mediating the transport of coenzyme A (CoA) in mitochondria in exchange for intramitochondrial (deoxy)adenine nucleotides and adenosine 3',5'-diphosphate.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00153	Mito_carr	29 → 122	Mitochondrial carrier protein	Family
PF00153	Mito_carr	127 → 219	Mitochondrial carrier protein	Family
PF00153	Mito_carr	222 → 316	Mitochondrial carrier protein	Family

Sequence

MGNGVKEGPVRLHEDAEAVLSSSVSSKRDHRQVLSSLLSGALAGALAKTAVAPLDRTKII
FQVSSKRFSAKEAFRVLYYTYLNEGFLSLWRGNSATMVRVVPYAAIQFSAHEEYKRILGS
YYGFRGEALPPWPRLFAGALAGTTAASLTYPLDLVRARMAVTPKEMYSNIFHVFIRISRE
EGLKTLYHGFMPTVLGVIPYAGLSFFTYETLKSLHREYSGRRQPYPFERMIFGACAGLIG
QSASYPLDVVRRRMQTAGVTGYPRASIARTLRTIVREEGAVRGLYKGLSMNWVKGPIAVG
ISFTTFDLMQILLRHLQS

Sequence length

318

Interactions

View interactions

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Inborn mitochondrial myopathy	Likely pathogenic; Pathogenic	rs864321624	RCV000203566	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression	Likely pathogenic; Pathogenic	rs864321624, rs1247424432	RCV000412490 RCV000770933	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SLC25A42-related mitochondrial disorder	Likely pathogenic; Pathogenic	rs864321624	RCV000984915	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SLC25A42-related mitochondrial encephalomyopathy	Likely pathogenic	rs1568523935	RCV000735224	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (6)

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.
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL MYOPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC25A42-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (16)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37304236	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypocupremia	Hypocupremia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intermittent lactic acidemia	Intermittent lactic acidemia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine with Aura	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	29327420		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	BEFREE	29327420		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	BEFREE	26541337		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Myopathies	Mitochondrial myopathy	GENOMICS_ENGLAND_DG	26541337, 29327420		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Myopathies	Mitochondrial myopathy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuromuscular dysphagia	Neuromuscular dysphagia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Panic Attacks	Panic Disorder	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trismus	Trismus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

SLC25A42 (solute carrier family 25 member 42)