SEC14L2 (SEC14 like lipid binding 2)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 23541
Gene name SEC14 like lipid binding 2
Gene symbol SEC14L2
Synonyms (NCBI Gene)
C22orf6SPFTAPTAP1
Chromosome 22
Chromosome location 22q12.2
Summary This gene encodes a cytosolic protein which belongs to a family of lipid-binding proteins including Sec14p, alpha-tocopherol transfer protein, and cellular retinol-binding protein. The encoded protein stimulates squalene monooxygenase which is a downstrea
miRNA miRNA information provided by mirtarbase database.
66
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (66)
miRTarBase ID miRNA Experiments Reference
MIRT1332244 hsa-miR-331-5p CLIP-seq
MIRT1332245 hsa-miR-3671 CLIP-seq
MIRT1332246 hsa-miR-4462 CLIP-seq
MIRT1332247 hsa-miR-4632 CLIP-seq
MIRT1332248 hsa-miR-4678 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (14)
GO ID Ontology Definition Evidence Reference
GO:0005543 Function Phospholipid binding NAS 7364757
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus NAS 11444841
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
607558 10699 ENSG00000100003
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O76054
Protein name SEC14-like protein 2 (Alpha-tocopherol-associated protein) (TAP) (hTAP) (Squalene transfer protein) (Supernatant protein factor) (SPF)
Protein function Carrier protein. Binds to some hydrophobic molecules and promotes their transfer between the different cellular sites. Binds with high affinity to alpha-tocopherol. Also binds with a weaker affinity to other tocopherols and to tocotrienols. May
PDB 1O6U , 1OLM , 4OMJ , 4OMK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00650 CRAL_TRIO 78 → 244 CRAL/TRIO domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Strong expression in liver, brain and prostate. {ECO:0000269|PubMed:10829015}.
Sequence 
MSGRVGDLSPRQKEALAKFRENVQDVLPALPNPDDYFLLRWLRARSFDLQKSEAMLRKHV
EFRKQKDIDNIISWQPPEVIQQYLSGGMCGYDLDGCPVWYDIIGPLDAKGLLFSASKQDL
LRTKMRECELLLQECAHQTTKLGRKVETITIIYDCEGLGLKHLWKPAVEAYGEFLCMFEE
NYPETLKRLFVVKAPKLFPVAYNLIKPFLSEDTRKKIMVLGANWKEVLLKHISPDQVPVE
YGGTMTDPDGNPKCKSKINYGGDIPRKYYVRDQVKQQYEHSVQISRGSSHQVEYEILFPG
CVLRWQFMSDGADVGFGIFLKTKMGERQRAGEMTEVLPNQRYNSHLVPEDGTLTCSDPGI
YVLRFDNTYSFIHAKKVNFTVEVLLPDKASEEKMKQLGAGTPK
Sequence length 403
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene miRNA Gene ontology Other IDs Protein 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)
Show/Hide Unknown Diseases (1)
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
SCHIZOPHRENIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (253)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 20207397
★★★★★
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 12018331, 17982230, 29416713
★★★★★
★☆☆☆☆
Found in Text Mining only
Alloimmunisation Alloimmunisation BEFREE 7860359, 8727210
★★★★★
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia BEFREE 26782532
★★★★★
★☆☆☆☆
Found in Text Mining only
Alopecia Areata Alopecia Areata BEFREE 26782532
★★★★★
★☆☆☆☆
Found in Text Mining only
Aneuploidy Aneuploidy Pubtator 36619767 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 1570316, 17082617, 19404951, 19480848, 25187574, 28405734, 7652740, 8311558, 8770637, 8912512, 9864038
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 30035341
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 30035341
★★★★★
★☆☆☆☆
Found in Text Mining only
Appendicitis Appendicitis BEFREE 30671804
★★★★★
★☆☆☆☆
Found in Text Mining only