Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10999
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 27 member 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC27A4
Synonyms (NCBI Gene) Gene synonyms aliases
ACSVL4, FATP4, IPS
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q34.11
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of a family of fatty acid transport proteins, which are involved in translocation of long-chain fatty acids cross the plasma membrane. This protein is expressed at high levels on the apical side of mature enterocytes in the smal
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs137853131 C>A,T Pathogenic Coding sequence variant, synonymous variant, stop gained
rs137853132 G>A Pathogenic Coding sequence variant, missense variant
rs137853133 T>C Pathogenic Coding sequence variant, missense variant
rs137853134 A>G Pathogenic Coding sequence variant, missense variant
rs137853135 G>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023551 hsa-miR-1-3p Proteomics;Microarray 18668037
MIRT031405 hsa-miR-16-5p Proteomics 18668040
MIRT050385 hsa-miR-23a-3p CLASH 23622248
MIRT653664 hsa-miR-4798-3p HITS-CLIP 23824327
MIRT653663 hsa-miR-3680-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000038 Process Very long-chain fatty acid metabolic process IEA
GO:0000166 Function Nucleotide binding IEA
GO:0001579 Process Medium-chain fatty acid transport IBA
GO:0001579 Process Medium-chain fatty acid transport IEA
GO:0001676 Process Long-chain fatty acid metabolic process IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604194 10998 ENSG00000167114
Protein
UniProt ID Q6P1M0
Protein name Long-chain fatty acid transport protein 4 (FATP-4) (Fatty acid transport protein 4) (Arachidonate--CoA ligase) (EC 6.2.1.15) (Long-chain-fatty-acid--CoA ligase) (EC 6.2.1.3) (Solute carrier family 27 member 4) (Very long-chain acyl-CoA synthetase 4) (ACSV
Protein function Mediates the levels of long-chain fatty acids (LCFA) in the cell by facilitating their transport across cell membranes (PubMed:10518211, PubMed:12556534, PubMed:20448275, PubMed:21395585, PubMed:22022213). Appears to be the principal fatty acid
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00501 AMP-binding 80 512 AMP-binding enzyme Family
PF13193 AMP-binding_C 520 595 AMP-binding enzyme C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed at highest levels in brain, testis, colon and kidney. Expressed at medium levels in heart and liver, small intestine and stomach. Expressed at low levels in peripheral leukocytes, bone marrow, skeletal muscle and aorta. Expre
Sequence
Sequence length 643
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  PPAR signaling pathway
Insulin resistance
Fat digestion and absorption
  Defective SLC27A4 causes ichthyosis prematurity syndrome (IPS)
Transport of fatty acids
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
ICHTHYOSIS PREMATURITY SYNDROME ichthyosis prematurity syndrome rs1588559786, rs137853132, rs137853134, rs764922350, rs587776384, rs765311079, rs758657421, rs137853131, rs1340721389 N/A
congenital ichthyosis Autosomal recessive congenital ichthyosis rs137853131 N/A
Lamellar ichthyosis lamellar ichthyosis rs137853134, rs587776384 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 30388870
Carcinoma Hepatocellular Associate 22022213
Cardiovascular Diseases Associate 36875456
Diabetes Gestational Associate 28846666
Diabetes Mellitus Associate 36875456
Diabetes Mellitus Type 2 Associate 17825092
Heart Failure Associate 25114062
Ichthyosis prematurity syndrome Associate 19631310, 31595490
Leukemia Prolymphocytic T Cell Associate 33280081
Lung Neoplasms Associate 26662804