Gene Gene information from NCBI Gene database.
Entrez ID 10999
Gene name Solute carrier family 27 member 4
Gene symbol SLC27A4
Synonyms (NCBI Gene)
ACSVL4FATP4IPS
Chromosome 9
Chromosome location 9q34.11
Summary 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.
12
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.
293
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
59
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604194 10998 ENSG00000167114
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autosomal recessive congenital ichthyosis Likely pathogenic; Pathogenic rs137853131 RCV001729337
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ichthyosis prematurity syndrome Pathogenic; Likely pathogenic rs2131266064, rs764219842, rs746178942, rs2131265398, rs587776384, rs777972512, rs137853131, rs1588559786, rs137853132, rs137853134, rs764922350, rs147688821, rs142366975, rs1454874748, rs2539457972
View all (5 more)
RCV001523894
RCV001523895
RCV001523896
RCV001523897
RCV005042282
View all (15 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lamellar ichthyosis Likely pathogenic; Pathogenic rs587776384, rs2131249868, rs1832802732, rs137853134, rs1454874748 RCV002265622
RCV002266409
RCV002510421
RCV003398450
RCV005407195
★★★★★
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
Cervical cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Melanoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SLC27A4-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 29290585
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 30579722
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 28539639
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 26548558
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 26548558
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 30388870
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 30388870 Associate
★☆☆☆☆
Found in Text Mining only
Bronchiolitis Bronchiolitis BEFREE 28539639
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 22022213 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 26662804
★☆☆☆☆
Found in Text Mining only