SLC25A48 (solute carrier family 25 member 48)

Gene

• Entrez ID: 153328
• Gene name: Solute carrier family 25 member 48
• Gene symbol: SLC25A48
• Synonyms (NCBI Gene): -
• Chromosome: 5
• Chromosome location: 5q31.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1357359	hsa-miR-128	CLIP-seq
MIRT1357360	hsa-miR-1827	CLIP-seq
MIRT1357361	hsa-miR-1915	CLIP-seq
MIRT1357362	hsa-miR-302a	CLIP-seq
MIRT1357363	hsa-miR-302b	CLIP-seq
MIRT1357364	hsa-miR-302c	CLIP-seq
MIRT1357365	hsa-miR-302d	CLIP-seq
MIRT1357366	hsa-miR-302e	CLIP-seq
MIRT1357367	hsa-miR-3117-5p	CLIP-seq
MIRT1357368	hsa-miR-3150b-3p	CLIP-seq
MIRT1357369	hsa-miR-324-5p	CLIP-seq
MIRT1357370	hsa-miR-372	CLIP-seq
MIRT1357371	hsa-miR-373	CLIP-seq
MIRT1357372	hsa-miR-4645-5p	CLIP-seq
MIRT1357373	hsa-miR-4673	CLIP-seq
MIRT1357374	hsa-miR-4689	CLIP-seq
MIRT1357375	hsa-miR-4711-5p	CLIP-seq
MIRT1357376	hsa-miR-4726-3p	CLIP-seq
MIRT1357377	hsa-miR-4784	CLIP-seq
MIRT1357378	hsa-miR-519a	CLIP-seq
MIRT1357379	hsa-miR-519b-3p	CLIP-seq
MIRT1357380	hsa-miR-519c-3p	CLIP-seq
MIRT1357381	hsa-miR-520a-3p	CLIP-seq
MIRT1357382	hsa-miR-520b	CLIP-seq
MIRT1357383	hsa-miR-520c-3p	CLIP-seq
MIRT1357384	hsa-miR-520d-3p	CLIP-seq
MIRT1357385	hsa-miR-520e	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IBA
GO:0055085	Process	Transmembrane transport	IEA

Other IDs

• MIM: 616150
• HGNC: 30451
• e!Ensembl: ENSG00000145832

Protein

• UniProt ID: Q6ZT89
• Protein name: Solute carrier family 25 member 48
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00153	Mito_carr	3 → 91	Mitochondrial carrier protein	Family
  PF00153	Mito_carr	100 → 209	Mitochondrial carrier protein	Family
  PF00153	Mito_carr	214 → 306	Mitochondrial carrier protein	Family

• Sequence:

  MGSFQLEDFAAGWIGGAASVIVGHPLDTVKTRLQAGVGYGNTLSCIRVVYRRESMFGFFK
  GMSFPLASIAVYNSVVFGVFSNTQRFLSQHRCGEPEASPPRTLSDLLLASMVAGVVSVGL
  GGPVDLIKIRLQMQTQPFRDANLGLKSRAVAPAEQPAYQGPVHCITTIVRNEGLAGLYRG
  ASAMLLRDVPGYCLYFIPYVFLSEWITPEACTGPSPCAVWLAGGMAGAISWGTATPMDVV
  KSRLQADGVYLNKYKGVLDCISQSYQKEGLKVFFRGITVNAVRGFPMSAAMFLGYELSLQ
  AIRGDHAVTSP

• Sequence length: 311

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CORONARY ANEURYSM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUCHENNE MUSCULAR DYSTROPHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Parkinson Disease	Associate	21812969	★☆☆☆☆ Found in Text Mining only