Gene Gene information from NCBI Gene database.
Entrez ID 729359
Gene name Perilipin 4
Gene symbol PLIN4
Synonyms (NCBI Gene)
KIAA1881MDRVMRUPAVNIPA2S3-12
Chromosome 19
Chromosome location 19p13.3
Summary Members of the perilipin family, such as PLIN4, coat intracellular lipid storage droplets (Wolins et al., 2003 [PubMed 12840023]).[supplied by OMIM, Feb 2010]
miRNA miRNA information provided by mirtarbase database.
85
miRTarBase ID miRNA Experiments Reference
MIRT017371 hsa-miR-335-5p Microarray 18185580
MIRT1242839 hsa-miR-1207-3p CLIP-seq
MIRT1242840 hsa-miR-1228 CLIP-seq
MIRT1242841 hsa-miR-1827 CLIP-seq
MIRT1242842 hsa-miR-24 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IEA
GO:0005811 Component Lipid droplet IDA 21498505
GO:0005811 Component Lipid droplet IEA
GO:0005829 Component Cytosol IDA
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613247 29393 ENSG00000167676
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96Q06
Protein name Perilipin-4 (Adipocyte protein S3-12)
Protein function May play a role in triacylglycerol packaging into adipocytes. May function as a coat protein involved in the biogenesis of lipid droplets (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03036 Perilipin 1135 1353 Perilipin family Family
Sequence
MQTLGSFFGSLPGFSSARNLVANAHSSARARPAADPTGAPAAEAAQPQAQVAAHPEQTAP
WTEKELQPSEKQMVSGAKDLVCSKMSRAKDAVSSGVASVVDVAKGVVQGGLDTTRSALTG
TKEVVSSGVTGAMDMAKGAVQGGLDTSKAVLTGTKDTVSTGLTGAVNVAKGTVQAGVDTT
KTVLTGTKDTVTTGVMGAVNLAKGTVQTGVETSKAVLTGTKDAVSTGLTGAVNVARGSIQ
TGVDTSKTVLTGTKDTVCSGVTGAMNVAKGTIQTGVDTSKTVLTGTKDTVCSGVTGAMNV
AKGTIQTGVDTSKTVLTGTKDTVCSGVTGAMNVAKGTIQTGVDTTKTVLTGTKNTVCSGV
TGAVNLAKEAIQGGLDTTKSMVMGTKDTMSTGLTGAANVAKGAMQTGLNTTQNIATGTKD
TVCSGVTGAMNLARGTIQTGVDTTKIVLTGTKDTVCSGVTGAANVAKGAVQGGLDTTKSV
LTGTKDAVSTGLTGAVNVAKGTVQTGVDTTKTVLTGTKDTVCSGVTSAVNVAKGAVQGGL
DTTKSVVIGTKDTMSTGLTGAANVAKGAVQTGVDTAKTVLTGTKDTVTTGLVGAVNVAKG
TVQTGMDTTKTVLTGTKDTIYSGVTSAVNVAKGAVQTGLKTTQNIATGTKNTFGSGVTSA
VNVAKGAAQTGVDTAKTVLTGTKDTVTTGLMGAVNVAKGTVQTSVDTTKTVLTGTKDTVC
SGVTGAANVAKGAIQGGLDTTKSVLTGTKDAVSTGLTGAVKLAKGTVQTGMDTTKTVLTG
TKDAVCSGVTGAANVAKGAVQMGVDTAKTVLTGTKDTVCSGVTGAANVAKGAVQTGLKTT
QNIATGTKNTLGSGVTGAAKVAKGAVQGGLDTTKSVLTGTKDAVSTGLTGAVNLAKGTVQ
TGVDTSKTVLTGTKDTVCSGVTGAVNVAKGTVQTGVDTAKTVLSGAKDAVTTGVTGAVNV
AKGTVQTGVDASKAVLMGTKDTVFSGVTGAMSMAKGAVQGGLDTTKTVLTGTKDAVSAGL
MGSGNVATGATHTGLSTFQNWLPSTPATSWGGLTSSRTTDNGGEQTALSPQEAPFSGIST
PPDVLSVGPEPAWEAAATTKGLATDVATFTQGAAPGREDTGLLATTHGPEEAPRLAMLQN
ELEGLGDIFHPMNAEEQAQLAASQPGPKVLSAEQGSYFVRLGDLGPSFRQRAFEHAVSHL
QHGQFQARDTLAQLQDCFRLIEKAQQAPEGQPRLDQGSGASAEDAAVQEERDAGVLSRVC
GLLRQLHTAYSGLVSSLQGLPAELQQPVGRARHSLCELYGIVASAGSVEELPAERLVQSR
EGVHQAWQGLEQLLEGLQHNPPLSWLVGPFALP
AGGQ
Sequence length 1357
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  PPAR signaling pathway  
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
Malignant tumor of urinary bladder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
VACUOLAR NEUROMYOPATHY CTD, ClinVar, Disgenet, GenCC
CTD, ClinVar, Disgenet, GenCC
CTD, ClinVar, Disgenet, GenCC
★★☆☆☆
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
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 35500219 Associate
★☆☆☆☆
Found in Text Mining only
Angelman Syndrome Angelman Syndrome BEFREE 28387067
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 16183798 Associate
★☆☆☆☆
Found in Text Mining only
Depressive Disorder Major depressive disorder Pubtator 34341332 Associate
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 34680874 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 24403596 Inhibit
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 29361938 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 31003774
★☆☆☆☆
Found in Text Mining only
Dyslipidemias Dyslipidemias Pubtator 29361938 Associate
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy BEFREE 30895737
★☆☆☆☆
Found in Text Mining only