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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SEC14L2 Gene

protein-coding   GIFtS: 55
GCID: GC22P030792

SEC14-like 2 (S. cerevisiae)

(Previous name: SEC14 (S. cerevisiae)-like 2 )
(Previous symbol: C22orf6)
 Explore 18 diseases affiliated with
SEC14L2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SEC14L2    

Aliases
for SEC14L2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
SEC14-Like 2 (S. Cerevisiae)1 2     Squalene Transfer Protein2 3
TAP1 2 3 5     Supernatant Protein Factor2 3
C22orf61 2 3     SEC14 (S. Cerevisiae)-Like 21
SPF1 2 3     TAP12
KIAA11861 3 5     SEC14-Like Protein 22
KIAA16581 3     Tocopherol-Associated Protein2
Alpha-Tocopherol-Associated Protein2 3     HTAP1

External Ids:    HGNC: 106991   Entrez Gene: 235412   Ensembl: ENSG000001000037   OMIM: 6075585   UniProtKB: O760543   

Export aliases for SEC14L2 gene to outside databases

Previous GC identifers: GC22P027488 GC22P029117 GC22P013754


Summaries
for SEC14L2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SEC14L2:
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)

UniProtKB/Swiss-Prot: S14L2_HUMAN, O76054
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 Wiki entry for SEC14L2


Genomic Views
for SEC14L2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.1  NT_011520.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SEC14L2 gene promoter:
         AP-2alpha isoform 3   AP-2alpha isoform 2   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SEC14L2 promoter sequence
   Search SABiosciences Chromatin IP Primers for SEC14L2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SEC14L2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q12.2   Ensembl cytogenetic band:  22q12.2   HGNC cytogenetic band: 22q12.2

SEC14L2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEC14L2 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P030792:  view genomic region     (about GC identifiers)

Start:
 30,792,846 bp from pter      End:
 30,821,278 bp from pter
Size:
 28,433 bases      Orientation:
 plus strand

Proteins
for SEC14L2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: S14L2_HUMAN, O76054 (See protein sequence)
Recommended Name: SEC14-like protein 2  
Size: 403 amino acids; 46145 Da
Subunit: Monomer (By similarity)
Subcellular location: Cytoplasm. Nucleus. Note=Cytoplasmic in absence of alpha-tocopherol, and nuclear in presence of
alpha-tocopherol
Developmental stage: Low expression in fetal tissues
Sequence caution: Sequence=BAA86500.2; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for SEC14L2:
1O6U (3D)        1OLM (3D)    
Secondary accessions: B7Z8Q1 F5H3U4 Q53EQ2 Q6PD61 Q9ULN4
Alternative splicing: 3 isoforms:  O76054-1   O76054-4   O76054-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SEC14L2: NX_O76054

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O76054

    • SEC14L2 Protein expression data from MOPED and PaxDb:    About this image 
    SEC14L2 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001191133.1  NP_036561.1  NP_203740.1  

    ENSEMBL proteins: 
     ENSP00000316203   ENSP00000387781   ENSP00000383993   ENSP00000400567   ENSP00000388719  
     ENSP00000388888   ENSP00000385186   ENSP00000407857   ENSP00000399596   ENSP00000383882  

    Human Recombinant Protein Products for SEC14L2: 
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    Uscn Proteins for SEC14L2

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS11444841
    GO:0005737cytoplasm NAS10829015
    GO:0005829cytosol ----
    GO:0016021integral to membrane IEA--

    SEC14L2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for SEC14L2

    Protein Domains /
    Families
    for SEC14L2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SEC14L2 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR001071 CRAL-bd_toc_tran
     IPR009038 GOLD
     IPR011074 CRAL/TRIO_N_dom
     IPR001251 CRAL-TRIO_dom

    Graphical View of Domain Structure for InterPro Entry O76054

    ProtoNet protein and cluster: O76054

    3 Blocks protein families:
    IPB001071 Cellular retinaldehyde-binding protein signature
    IPB001251 Cellular retinaldehyde-binding (CRAL)/Triple function domain (TRIO)
    IPB008273 Cellular retinaldehyde-binding/triple function


    UniProtKB/Swiss-Prot: S14L2_HUMAN, O76054
    Similarity: Contains 1 CRAL-TRIO domain
    Similarity: Contains 1 GOLD domain


    Function
    for SEC14L2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S14L2_HUMAN, O76054
    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

         Genatlas biochemistry entry for SEC14L2:
    yeast (S cerevisiae) SEC14-like 2,widely expressed

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity IEA--
    GO:0005543phospholipid binding NAS7364757
    GO:0008047enzyme activator activity ----
    GO:0008431vitamin E binding NAS10829015
    GO:0016765transferase activity, transferring alkyl or aryl (other than methyl) groups ----
         
    SEC14L2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SEC14L2:
     Increased G2M DNA content, inc 

         1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Sec14l2):
     homeostasis/metabolism 

    SEC14L2 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Sec14l2tm1Arai for SEC14L2
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SEC14L2 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SEC14L2
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    hsa-miR-3685 hsa-miR-30c hsa-miR-631 hsa-miR-1271 hsa-miR-30d hsa-miR-3661 hsa-miR-766 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmid: SEC14L2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Cell Line
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEC14L2


    Pathways & Interactions
    for SEC14L2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SEC14L2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for SEC14L2 (O760543 ENSP000003162034) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PIK3CGP487363, ENSP000003521214I2D: score=1 STRING: ENSP00000352121
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006810transport ----
    GO:0045540regulation of cholesterol biosynthetic process NAS11226224
    GO:0045542positive regulation of cholesterol biosynthetic process ----
    GO:0045893positive regulation of transcription, DNA-dependent NAS11444841

    SEC14L2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SEC14L2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SEC14L2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SEC14L2

    2 DrugBank Compounds for SEC14L2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Palmitic Acid1-Hexyldecanoic Acid (see all 11)57-10-3target--17139284 17016423
    Vitamin Ealpha-Tocopherol (see all 2)59-02-9target--17252538 16579965

    10/12 Novoseek chemical compound relationships for SEC14L2 gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    squalene 83.8 21 11226224 (4), 12454003 (3), 12559471 (2), 15680919 (1) (see all 9)
    tocopherol 82.9 15 12559471 (3), 10829015 (2), 11444841 (1), 17252538 (1) (see all 9)
    alpha tocopherol 77.9 49 11444841 (4), 12559471 (4), 19190344 (2), 12767229 (2) (see all 16)
    lanosterol 74.7 5 11226224 (1), 12559471 (1), 15040456 (1), 15753133 (1)
    vitamin-e 66.6 12 16267002 (3), 19190344 (1), 12972248 (1), 15814460 (1) (see all 5)
    25-hydroxyvitamin d 36.6 2 8968701 (1), 11127208 (1)
    cholesterol 28 32 15680919 (8), 11226224 (4), 12972248 (3), 12559471 (3) (see all 7)
    phosphatidylinositol 26.2 4 12767229 (2), 12429094 (1)
    lipid 16.8 3 12767229 (1), 12429094 (1)
    atp 0 6 12454003 (3), 17252538 (1)

    Search CenterWatch for drugs/clinical trials and news about SEC14L2 / S14L2 

    Transcripts
    for SEC14L2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for SEC14L2 gene (3 alternative transcripts): 
    NM_001204204.1  NM_012429.3  NM_033382.2  

    Unigene Cluster for SEC14L2:

    SEC14-like 2 (S. cerevisiae)
    Hs.335614  [show with all ESTs]
    Unigene Representative Sequence: NM_012429
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000312932(uc003ahr.3 uc011aky.2 uc011akx.2 uc003ahs.3 uc003aht.3 uc010gvv.3)
    ENST00000428195 ENST00000403484 ENST00000467218 ENST00000416523 ENST00000437022
    ENST00000452649 ENST00000405717(uc003ahq.3) ENST00000459728 ENST00000429917
    ENST00000415072 ENST00000485482 ENST00000484486 ENST00000464335 ENST00000483116
    ENST00000478762 ENST00000402592(uc003ahu.3)

    miRNA
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    8/23 QIAGEN miScript miRNA Assays for microRNAs that regulate SEC14L2 (see all 23):
    hsa-miR-3685 hsa-miR-30c hsa-miR-631 hsa-miR-1271 hsa-miR-30d hsa-miR-3661 hsa-miR-766 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmid: SEC14L2 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AB033012.2 AK056163.1 AK091402.1 AK092576.1 AK223587.1 AK296540.1 AK303751.1 AK314390.1 
    AL096881.1 AY203959.1 AY927429.1 AY927430.1 AY927434.1 AY927435.1 AY927436.1 AY927437.1 
    AY927438.1 AY927439.1 AY927441.1 BC048337.1 BC058915.1 CR456571.1 

    24/25 DOTS entries (see all 25):

    DT.100728352  DT.445968  DT.91648524  DT.40242710  DT.95371481  DT.95371482  DT.120634076  DT.92014051 
    DT.401358  DT.120634059  DT.95135743  DT.40259941  DT.120634067  DT.100786798  DT.120633969  DT.120633977 
    DT.120634004  DT.120634096  DT.95237664  DT.120633972  DT.120633997  DT.40259922  DT.95371483  DT.100671004 

    24/205 AceView cDNA sequences (see all 205):

    AA626379 AI202053 Z42076 BM700218 CB163754 BM706345 BP361953 CR607299 
    BP348307 AL096881 BM705532 R50869 BC058915 BQ007531 BQ940934 BX091297 
    BM842564 BM678036 BC048337 BQ773720 BM699779 CR456571 R49914 AA610131 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for SEC14L2 (see all 8)    About this scheme

    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:                                                                                                                  


    ECgene alternative splicing isoforms for SEC14L2

    Expression
    for SEC14L2 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SEC14L2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAGACTGGCA
    SEC14L2 Expression
    About this image
    See SEC14L2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SEC14L2

    SOURCE GeneReport for Unigene cluster: Hs.335614

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

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    In Situ
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    Orthologs
    for SEC14L2 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SEC14L2 gene from 8/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SEC14L26
    		 Uncharacterized protein
    		 74(a)
    		 1 → many
    		 15(11138837-11143355)
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 --
    		 71(a)
    		 1 → many
    		 GL343417.1(136996-146283)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia BX759336.12   -- 78.65(n)    BX759336.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii si:ch211-89f7.11 si:ch211-89f7.1 69.99(n)
    67.52(a)    		   558964  NM_001099993.2  NP_001093463.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG138931 , 3 CG138931 31(a)3
    47.73(n)1
    32.8(a)1    		   61C63
    380741  NM_138198.31  NP_612042.31 
    worm
    (Caenorhabditis elegans)    		 Secernentea H06O01.33
    ctg-11    		 retinal-binding protein like3
    Protein CTG-11    		 30(a)
    (best of 2)3
    43.85(n)1
    31.01(a)1    		   I(7013786-7017132)3
    1724311  NM_059592.41  NP_491993.11 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT1G558406
    AT5G477306
    		 sec.4-like phosphatidylinositol transfer protein
    putative sec14p-like phosphatidylinositol transfer...
    		 22(a)
    19(a)
    		 many ↔ many
    many ↔ many
    		 1(20873602-20876272)
    5(19334250-19337101)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 3)    		 CRAL/TRIO domain containing protein, expressed
    (see all 3)    		 19(a)
    19(a)
    (see all 3)    		 many ↔ many
    many ↔ many
    (see all 3)    		 2(5604236-5609533)
    9(4348564-4354226)


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

    Paralogs
    for SEC14L2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SEC14L2 gene
    ENSG000002495902  SEC14L12  SEC14L62  SEC14L52  SEC14L32  SEC14L42  
    7 SIMAP similar genes for SEC14L2 using alignment to 8 protein entries:     S14L2_HUMAN (see all proteins):
    SEC14L3    SEC14L4    SEC14L6    SEC14L1    DKFZp686C06176    SEC14L5
    Em

    SEC14L2 for paralogs           About GeneDecksing



    Genomic Variants
    for SEC14L2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/484 NCBI SNPs in SEC14L2 are shown (see all 484)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 22 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1898081541,2
    		--30790957(+) AAGGGA/CAGGCC 3 -- us2k10--------
    rs1173410841,2
    		--30791010(+) AGATGC/TGGGGA 3 -- us2k11Minor allele frequency- T:0.01NA 120
    rs1401397251,2
    		--30791242(+) AAGTGA/TCAAGC 3 -- us2k10--------
    rs1389229121,2
    		C--30791308(+) GCTTC-/TTGTTT
                TTATT     		3 -- us2k10--------
    rs1814160391,2
    		--30791335(+) TGTTTG/TTTTTT 3 -- us2k10--------
    rs1503172811,2
    		--30791382(+) GTACAA/CTGGTG 3 -- us2k10--------
    rs1859994151,2
    		--30791514(+) AGAGAC/TGGGGT 3 -- us2k10--------
    rs1379995621,2
    		--30791617(+) CACCGC/TGCCCG 3 -- us2k10--------
    rs1881780661,2
    		--30791758(+) CCCCAA/GGCCAG 3 -- us2k10--------
    rs10762711,2
    		C,F,H--30791827(-) TGAGGC/TCCCCA 3 -- us2k119Minor allele frequency- T:0.15NA EA NS WA 1218

    HapMap Linkage Disequilibrium report for SEC14L2 (30792846 - 30821278 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SEC14L2: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SEC14L2
    DNA2.0 Custom Variant and Variant Library Synthesis for SEC14L2

    Disorders / Diseases
    for SEC14L2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SEC14L2 for disorders           About GeneDecksing

    OMIM gene information: 607558    OMIM disorders: --

    18 diseases for SEC14L2:    About MalaCards
    ornithine carbamoyltransferase deficiency    dna topoisomerase i    cholesterol    retinol binding protein
    gaucher's disease    rheumatoid arthritis    prostate cancer    pulmonary disease
    osteoporosis    arthritis    breast carcinoma    prostatitis
    breast cancer    retinitis    melanoma    carcinoma
    hepatitis    malaria

    3 Novoseek disease relationships for SEC14L2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    prostate cancer 30 19 16267002 (5), 19190344 (4), 17334589 (3)
    tumors 0 3 16267002 (3)
    cancer 0 1 16267002 (1)

    Human Genome Epidemiology (HuGE) Navigator: SEC14L2 (5 documents)

    Export disorders for SEC14L2 gene to outside databases

    Publications
    for SEC14L2 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SEC14L2 gene, integrated from 9 sources (see all 68):
    (articles sorted by number of sources associating them with SEC14L2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2, 3 Dunham I....O'Brien K.P. (1999)
    2. Supernatant protein factor, which stimulates the conversion of squalene to lanosterol, is a cytosolic squalene transfer protein and enhances cholesterol biosynthesis. (PubMed id 11226224)1, 2, 9 Shibata N.... Arai H. (2001)
    3. A novel human tocopherol-associated protein: cloning, in vitro expression, and characterization. (PubMed id 10829015)1, 2, 9 Zimmer S....Azzi A. (2000)
    4. Crystal structure of the human supernatant protein factor. (PubMed id 12429094)1, 2, 9 Stocker A.... Baumann U. (2002)
    5. Tocopherol-associated protein is a ligand-dependent transcriptional activator. (PubMed id 11444841)1, 2, 9 Yamauchi J.... Esashi T. (2001)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
    8. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PubMed id 10574461)1, 2 Hirosawa M.... Ohara O. (1999)
    9. Phosphorylation of supernatant protein factor enhances its ability to stimulate microsomal squalene monooxygenase. (PubMed id 12454003)1, 9 Singh D.K....Porter T.D. (2003)
    10. Tocopherol-associated protein suppresses prostate cancer cell growth by inhibition of the phosphoinositide 3-kinase pathway. (PubMed id 16267002)1, 9 Ni J....Yeh S. (2005)

    External Searches for SEC14L2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SEC14L2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23541 HGNC: 10699 AceView: SEC14L2 Ensembl:ENSG00000100003 euGenes: HUgn23541
    ECgene: SEC14L2 H-InvDB: SEC14L2

    Other Databases showing SEC14L2 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1186 KIAA1658

    Specialized Databases showing SEC14L2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SEC14L2 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SEC14L2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SEC14L2 gene:
    Search GeneIP for patents involving SEC14L2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
    for SEC14L2 gene

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    About This Section

     
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