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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. 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

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

Genomics for SEC14L2 Gene

Regulatory Elements for SEC14L2 Gene

Enhancers for SEC14L2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22G030278 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.8 -117.3 -117340 1.1 TAL1 ZMYM3 TCF12 ZNF121 ZFHX2 EGR1 NCOR1 TRIM24 EGR2 SMARCE1 OSM LIF TBC1D10A SEC14L2 LIF-AS1 ENSG00000249590 SLC35E4 SEC14L4 CASTOR1 MTMR3
GH22G030322 1.6 FANTOM5 ENCODE dbSUPER 10.6 -69.9 -69938 8.0 HDGF PKNOX1 WRNIP1 ARID4B SIN3A YY1 TCF12 GLIS2 SP3 SP5 RNF215 CCDC157 CASTOR1 SEC14L3 SF3A1 ENSG00000248751 SEC14L2 ENSG00000249590 LIF OSM
GH22G030415 1.4 ENCODE dbSUPER 11.7 +24.6 24583 11.6 MLX CREB3L1 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 SP3 RNF215 TUG1 SEC14L3 CASTOR1 MORC2 SEC14L2 CCDC157 SEC14L6 SMTN ENSG00000272689
GH22G030434 1.4 Ensembl ENCODE dbSUPER 11.3 +38.6 38635 2.3 ATF1 FOXA2 SIN3A ZBTB40 RARA ETS1 EGR1 FOS ETV6 CREM SEC14L3 SEC14L2 ENSG00000249590 CASTOR1 SMTN GC22P030436 PIR31582
GH22G030444 1.4 Ensembl ENCODE dbSUPER 11 +48.7 48676 1.6 TBP ZNF76 ZNF2 RAD21 YY1 GATA2 EGR1 ZNF143 FOS ETV6 SEC14L3 ENSG00000181123 TUG1 SEC14L2 ENSG00000249590 LIF ZMAT5 LOC105372991 LOC101060052
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SEC14L2 on UCSC Golden Path with GeneCards custom track

Promoters for SEC14L2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000145217 359 1001 AGO1 ZFP64 KLF17 ZNF2 ZNF48 RAD21 GLIS2 SP3 SP5 REST

Genomic Location for SEC14L2 Gene

Chromosome:
22
Start:
30,396,857 bp from pter
End:
30,425,317 bp from pter
Size:
28,461 bases
Orientation:
Plus strand

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

  • Ubiquitination at Lys196
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SEC14L2 Gene

Domains & Families for SEC14L2 Gene

Gene Families for SEC14L2 Gene

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.

Gene Ontology (GO) - Molecular Function for SEC14L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity IEA --
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

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

Gene Ontology (GO) - Cellular Components for SEC14L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus NAS,IDA 11444841
GO:0005737 cytoplasm NAS 10829015
GO:0005829 cytosol IDA --
GO:0016021 integral component of membrane IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin E Approved, Vet_approved Nutra Target 414,411
Palmitic Acid Experimental Pharma Full agonist, Agonist, Target 22

(6) 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

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 34 35
  • 99.5 (n)
dog
(Canis familiaris)
Mammalia SEC14L2 34 35
  • 92.06 (n)
rat
(Rattus norvegicus)
Mammalia Sec14l2 34
  • 89.58 (n)
cow
(Bos Taurus)
Mammalia SEC14L2 34 35
  • 89.41 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 89 (a)
ManyToMany
-- 35
  • 86 (a)
ManyToMany
-- 35
  • 65 (a)
ManyToMany
-- 35
  • 57 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Sec14l2 34 16 35
  • 88.75 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 85 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 35
  • 65 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 70 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia sec14l3 34
  • 72.29 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-89f7.1 34 35
  • 69.99 (n)
FP016199.1 35
  • 59 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG13893 36 35
  • 31 (a)
worm
(Caenorhabditis elegans)
Secernentea ctg-1 34 35
  • 44.13 (n)
H06O01.3 36
  • 30 (a)
T13H5.2 36
  • 27 (a)
ctg-2 35
  • 24 (a)
ManyToMany
H41C03.1 35
  • 23 (a)
ManyToMany
cgr-1 35
  • 22 (a)
ManyToMany
F20G2.3 35
  • 22 (a)
ManyToMany
F28H7.8 35
  • 20 (a)
ManyToMany
R03A10.5 35
  • 20 (a)
ManyToMany
F18A11.2 35
  • 19 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR020W 34
  • 46.13 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC14 34 35
  • 44.87 (n)
-- 35
  • 25 (a)
ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B06479g 34
  • 42.19 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02263 34
  • 46.61 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes spo20 34
  • 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 Sequence Context AA Info Type
rs1000135396 -- 30,414,019(+) AGAGA(C/T)GGGAG intron-variant
rs1000235419 -- 30,397,460(+) GGCAC(-/A)AAAGG intron-variant
rs1000241369 -- 30,421,813(+) TAAAA(C/G)AGGAC intron-variant, nc-transcript-variant
rs1000696529 -- 30,424,827(+) GTCCA(G/T)CGGGG intron-variant, upstream-variant-2KB, utr-variant-3-prime
rs1000726765 -- 30,397,071(+) CCGCA(A/C)CCGCC utr-variant-5-prime

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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
retinitis pigmentosa 41
  • rp41
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SEC14L2

Genetic Association Database (GAD)
SEC14L2
Human Genome Epidemiology (HuGE) Navigator
SEC14L2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SEC14L2
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. (J. Biol. Chem. 2000) 2 3 4 22 64
  2. Association of variants in two vitamin e transport genes with circulating vitamin e concentrations and prostate cancer risk. (PMID: 19190344) Wright M.E. … Albanes D. (Cancer Res. 2009) 3 22 46 64
  3. Crystal structure of the human supernatant protein factor. (PMID: 12429094) Stocker A. … Baumann U. (Structure 2002) 3 4 22 64
  4. 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. (Proc. Natl. Acad. Sci. U.S.A. 2001) 3 4 22 64
  5. Tocopherol-associated protein is a ligand-dependent transcriptional activator. (PMID: 11444841) Yamauchi J. … Esashi T. (Biochem. Biophys. Res. Commun. 2001) 3 4 22 64

Products for SEC14L2 Gene

Sources for SEC14L2 Gene

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