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Aliases for SEC14L2 Gene

Aliases for SEC14L2 Gene

  • SEC14 Like Lipid Binding 2 2 3 5
  • Supernatant Protein Factor 2 3 4
  • Alpha-Tocopherol-Associated Protein 3 4
  • Tocopherol-Associated Protein 1 2 3
  • Squalene Transfer Protein 3 4
  • C22orf6 3 4
  • TAP 3 4
  • SPF 3 4
  • SEC14 (S. Cerevisiae)-Like 2 2
  • SEC14-Like 2 (S. Cerevisiae) 2
  • SEC14-Like Lipid Binding 2 2
  • SEC14-Like Protein 2 3
  • KIAA1186 4
  • KIAA1658 4
  • TAP1 3
  • HTAP 4

External Ids for SEC14L2 Gene

Previous HGNC Symbols for SEC14L2 Gene

  • C22orf6

Previous GeneCards Identifiers for SEC14L2 Gene

  • GC22P027488
  • GC22P029117
  • GC22P030792
  • GC22P013754

Summaries for SEC14L2 Gene

Entrez Gene Summary for SEC14L2 Gene

  • 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 downstream enzyme in the cholesterol biosynthetic pathway. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]

GeneCards Summary for SEC14L2 Gene

SEC14L2 (SEC14 Like Lipid Binding 2) is a Protein Coding gene. Diseases associated with SEC14L2 include Retinitis Pigmentosa 41 and Vitamin E, Familial Isolated Deficiency Of. Gene Ontology (GO) annotations related to this gene include transporter activity and vitamin E binding. An important paralog of this gene is SEC14L3.

UniProtKB/Swiss-Prot for SEC14L2 Gene

  • 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 have a transcriptional activatory activity via its association with alpha-tocopherol. Probably recognizes and binds some squalene structure, suggesting that it may regulate cholesterol biosynthesis by increasing the transfer of squalene to a metabolic active pool in the cell.

Gene Wiki entry for SEC14L2 Gene

Additional gene information for SEC14L2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEC14L2 Gene

Genomics for SEC14L2 Gene

GeneHancer (GH) Regulatory Elements for SEC14L2 Gene

Promoters and enhancers for SEC14L2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22I030396 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.1 1140 3.1 ZFP64 KLF17 SIN3A ZNF2 ZNF48 RAD21 YY1 ZNF335 GLIS2 SCRT2 SEC14L2 RNF215 CASTOR1 SEC14L3 CCDC157 ENSG00000249590
GH22I030415 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.7 +24.6 24582 11.6 MLX FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 SP3 RNF215 ENSG00000272689 ENSG00000273350 MTFP1 RNU6-564P TUG1 SF3A1 TBC1D10A SEC14L3 PES1
GH22I030322 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.6 -69.9 -69937 8 HDGF PKNOX1 ARID4B SIN3A YY1 GLIS2 ZNF213 ATF7 RUNX3 SP3 TBC1D10A RNF215 CCDC157 CASTOR1 SEC14L3 TUG1 SF3A1 ENSG00000248751 SEC14L2 ENSG00000249590
GH22I030278 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 10.8 -117.3 -117340 1.1 RFX1 HLF ZMYM3 ZNF121 ZFHX2 POLR2A ZFP36 ZBTB17 EGR2 OSM LIF TBC1D10A SEC14L2 LIF-AS1 ENSG00000249590 SLC35E4 SEC14L4 CASTOR1 MTMR3
GH22I030434 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.4 +38.6 38634 2.3 ATF1 FOXA2 ZBTB40 RARA ETS1 ZNF335 E2F8 ATF7 ETV6 THAP11 GC22P030436 SEC14L3 SEC14L2 ENSG00000249590 CASTOR1 SMTN LOC105372990 PIR31582
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SEC14L2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SEC14L2 gene promoter:

Genomic Locations for SEC14L2 Gene

Genomic Locations for SEC14L2 Gene
chr22:30,396,857-30,425,317
(GRCh38/hg38)
Size:
28,461 bases
Orientation:
Plus strand
chr22:30,792,846-30,821,305
(GRCh37/hg19)

Genomic View for SEC14L2 Gene

Genes around SEC14L2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEC14L2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEC14L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEC14L2 Gene

Proteins for SEC14L2 Gene

  • Protein details for SEC14L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O76054-S14L2_HUMAN
    Recommended name:
    SEC14-like protein 2
    Protein Accession:
    O76054
    Secondary Accessions:
    • B7Z8Q1
    • F5H3U4
    • Q53EQ2
    • Q6PD61
    • Q9ULN4

    Protein attributes for SEC14L2 Gene

    Size:
    403 amino acids
    Molecular mass:
    46145 Da
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=BAA86500.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SEC14L2 Gene

    Alternative splice isoforms for SEC14L2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEC14L2 Gene

Post-translational modifications for SEC14L2 Gene

No data available for DME Specific Peptides for SEC14L2 Gene

Domains & Families for SEC14L2 Gene

Gene Families for SEC14L2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SEC14L2: view

No data available for UniProtKB/Swiss-Prot for SEC14L2 Gene

Function for SEC14L2 Gene

Molecular function for SEC14L2 Gene

GENATLAS Biochemistry:
yeast (S cerevisiae) SEC14-like 2,widely expressed
UniProtKB/Swiss-Prot 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 have a transcriptional activatory activity via its association with alpha-tocopherol. Probably recognizes and binds some squalene structure, suggesting that it may regulate cholesterol biosynthesis by increasing the transfer of squalene to a metabolic active pool in the cell.

Phenotypes From GWAS Catalog for SEC14L2 Gene

Gene Ontology (GO) - Molecular Function for SEC14L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005543 phospholipid binding NAS 7364757
GO:0008289 lipid binding IEA --
GO:0008431 vitamin E binding NAS 10829015
genes like me logo Genes that share ontologies with SEC14L2: view
genes like me logo Genes that share phenotypes with SEC14L2: view

Animal Models for SEC14L2 Gene

MGI Knock Outs for SEC14L2:

Animal Model Products

CRISPR Products

miRNA for SEC14L2 Gene

miRTarBase miRNAs that target SEC14L2

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SEC14L2 Gene

Localization for SEC14L2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEC14L2 Gene

Cytoplasm. Nucleus. Note=Cytoplasmic in absence of alpha-tocopherol, and nuclear in presence of alpha-tocopherol.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SEC14L2 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SEC14L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,NAS 11444841
GO:0005737 cytoplasm NAS 10829015
GO:0005829 cytosol IDA --
GO:0070062 extracellular exosome HDA,IDA 23533145
genes like me logo Genes that share ontologies with SEC14L2: view

Pathways & Interactions for SEC14L2 Gene

SuperPathways for SEC14L2 Gene

No Data Available

Interacting Proteins for SEC14L2 Gene

Selected Interacting proteins: O76054-S14L2_HUMAN for SEC14L2 Gene via IID

Gene Ontology (GO) - Biological Process for SEC14L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006810 transport IEA --
GO:0045540 regulation of cholesterol biosynthetic process NAS 11226224
GO:0045893 positive regulation of transcription, DNA-templated NAS 11444841
genes like me logo Genes that share ontologies with SEC14L2: view

No data available for Pathways by source and SIGNOR curated interactions for SEC14L2 Gene

Drugs & Compounds for SEC14L2 Gene

(9) Drugs for SEC14L2 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Palmitic Acid Approved, Experimental Pharma Full agonist, Agonist, Target 23
Vitamin E Approved, Vet_approved Nutra Target 434,438

(5) Additional Compounds for SEC14L2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SEC14L2: view

Transcripts for SEC14L2 Gene

Unigene Clusters for SEC14L2 Gene

SEC14-like 2 (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SEC14L2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b
SP1: -
SP2: - - -
SP3: -
SP4:
SP5:
SP6: - - - -
SP7: - -
SP8: - - - - -

Relevant External Links for SEC14L2 Gene

GeneLoc Exon Structure for
SEC14L2
ECgene alternative splicing isoforms for
SEC14L2

Expression for SEC14L2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SEC14L2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SEC14L2 Gene

This gene is overexpressed in Liver (x11.1).

Protein differential expression in normal tissues from HIPED for SEC14L2 Gene

This gene is overexpressed in Liver (18.5), Liver, secretome (17.0), and Retina (13.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SEC14L2 Gene



NURSA nuclear receptor signaling pathways regulating expression of SEC14L2 Gene:

SEC14L2

SOURCE GeneReport for Unigene cluster for SEC14L2 Gene:

Hs.335614

mRNA Expression by UniProt/SwissProt for SEC14L2 Gene:

O76054-S14L2_HUMAN
Tissue specificity: Widely expressed. Strong expression in liver, brain and prostate.

Evidence on tissue expression from TISSUES for SEC14L2 Gene

  • Nervous system(4.9)
  • Liver(4.6)
  • Kidney(4.1)
genes like me logo Genes that share expression patterns with SEC14L2: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SEC14L2 Gene

Orthologs for SEC14L2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SEC14L2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SEC14L2 33 34
  • 99.5 (n)
dog
(Canis familiaris)
Mammalia SEC14L2 33 34
  • 92.06 (n)
rat
(Rattus norvegicus)
Mammalia Sec14l2 33
  • 89.58 (n)
cow
(Bos Taurus)
Mammalia SEC14L2 33 34
  • 89.41 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 89 (a)
ManyToMany
-- 34
  • 86 (a)
ManyToMany
-- 34
  • 65 (a)
ManyToMany
-- 34
  • 57 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Sec14l2 33 16 34
  • 88.75 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 85 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 34
  • 65 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 70 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia sec14l3 33
  • 72.29 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-89f7.1 33 34
  • 69.99 (n)
FP016199.1 34
  • 59 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG13893 35 34
  • 31 (a)
worm
(Caenorhabditis elegans)
Secernentea ctg-1 33 34
  • 44.13 (n)
H06O01.3 35
  • 30 (a)
T13H5.2 35
  • 27 (a)
ctg-2 34
  • 24 (a)
ManyToMany
H41C03.1 34
  • 23 (a)
ManyToMany
cgr-1 34
  • 22 (a)
ManyToMany
F20G2.3 34
  • 22 (a)
ManyToMany
F28H7.8 34
  • 20 (a)
ManyToMany
R03A10.5 34
  • 20 (a)
ManyToMany
F18A11.2 34
  • 19 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR020W 33
  • 46.13 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC14 33 34
  • 44.87 (n)
-- 34
  • 25 (a)
ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B06479g 33
  • 42.19 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02263 33
  • 46.61 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes spo20 33
  • 44.76 (n)
Species where no ortholog for SEC14L2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SEC14L2 Gene

ENSEMBL:
Gene Tree for SEC14L2 (if available)
TreeFam:
Gene Tree for SEC14L2 (if available)

Paralogs for SEC14L2 Gene

Paralogs for SEC14L2 Gene

genes like me logo Genes that share paralogs with SEC14L2: view

Variants for SEC14L2 Gene

Sequence variations from dbSNP and Humsavar for SEC14L2 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000135396 -- 30,414,019(+) C/T intron_variant
rs1000235419 -- 30,397,461(+) AAA/AAAA intron_variant
rs1000241369 -- 30,421,813(+) C/G genic_downstream_transcript_variant, intron_variant
rs1000696529 -- 30,424,827(+) G/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000726765 -- 30,397,071(+) C/A/T 5_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for SEC14L2 Gene

Variant ID Type Subtype PubMed ID
nsv1110864 OTHER inversion 24896259
nsv829171 CNV loss 20364138
nsv953068 CNV deletion 24416366

Variation tolerance for SEC14L2 Gene

Residual Variation Intolerance Score: 41.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.58; 93.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SEC14L2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEC14L2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEC14L2 Gene

Disorders for SEC14L2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SEC14L2 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SEC14L2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SEC14L2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEC14L2 Gene

Publications for SEC14L2 Gene

  1. A novel human tocopherol-associated protein: cloning, in vitro expression, and characterization. (PMID: 10829015) Zimmer S … Azzi A (The Journal of biological chemistry 2000) 2 3 4 22 58
  2. Association of variants in two vitamin e transport genes with circulating vitamin e concentrations and prostate cancer risk. (PMID: 19190344) Wright ME … Albanes D (Cancer research 2009) 3 22 44 58
  3. Crystal structure of the human supernatant protein factor. (PMID: 12429094) Stocker A … Baumann U (Structure (London, England : 1993) 2002) 3 4 22 58
  4. Tocopherol-associated protein is a ligand-dependent transcriptional activator. (PMID: 11444841) Yamauchi J … Esashi T (Biochemical and biophysical research communications 2001) 3 4 22 58
  5. Supernatant protein factor, which stimulates the conversion of squalene to lanosterol, is a cytosolic squalene transfer protein and enhances cholesterol biosynthesis. (PMID: 11226224) Shibata N … Arai H (Proceedings of the National Academy of Sciences of the United States of America 2001) 3 4 22 58

Products for SEC14L2 Gene

Sources for SEC14L2 Gene

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