Gene Gene information from NCBI Gene database.
Entrez ID 123096
Gene name Solute carrier family 25 member 29
Gene symbol SLC25A29
Synonyms (NCBI Gene)
C14orf69CACLORNT3
Chromosome 14
Chromosome location 14q32.2
Summary This gene encodes a nuclear-encoded mitochondrial protein that is a member of the large family of solute carrier family 25 (SLC25) mitochondrial transporters. The members of this superfamily are involved in numerous metabolic pathways and cell functions.
miRNA miRNA information provided by mirtarbase database.
244
miRTarBase ID miRNA Experiments Reference
MIRT726545 hsa-miR-15a-5p HITS-CLIP 22473208
MIRT726544 hsa-miR-15b-5p HITS-CLIP 22473208
MIRT726543 hsa-miR-16-5p HITS-CLIP 22473208
MIRT726542 hsa-miR-195-5p HITS-CLIP 22473208
MIRT1356118 hsa-miR-122 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0005289 Function High-affinity L-arginine transmembrane transporter activity IBA
GO:0005289 Function High-affinity L-arginine transmembrane transporter activity IDA 24652292
GO:0005292 Function High-affinity lysine transmembrane transporter activity IBA
GO:0005292 Function High-affinity lysine transmembrane transporter activity IDA 24652292
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615064 20116 ENSG00000197119
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N8R3
Protein name Mitochondrial basic amino acids transporter (Carnitine/acylcarnitine translocase-like) (CACT-like) (Mitochondrial carnitine/acylcarnitine carrier protein CACL) (Mitochondrial ornithine transporter 3) (Solute carrier family 25 member 29)
Protein function Mitochondrial transporter of arginine, lysine, homoarginine, methylarginine and, to a much lesser extent, ornithine and histidine (PubMed:19287344, PubMed:24652292). Does not transport carnitine nor acylcarnitines (PubMed:24652292). Functions by
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00153 Mito_carr 1 91 Mitochondrial carrier protein Family
PF00153 Mito_carr 88 182 Mitochondrial carrier protein Family
PF00153 Mito_carr 185 279 Mitochondrial carrier protein Family
Sequence
Sequence length 303
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Thermogenesis   Amino acid transport across the plasma membrane
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Neoplasm Metastasis Inhibit 36514121
★☆☆☆☆
Found in Text Mining only
Neoplasms Inhibit 36514121
★☆☆☆☆
Found in Text Mining only
Pancreatic Neoplasms Associate 36514121
★☆☆☆☆
Found in Text Mining only