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

SEC14L2 Gene

protein-coding   GIFtS: 58
GCID: GC22P030792

SEC14-Like 2 (S. Cerevisiae)

(Previous name: SEC14 (S. cerevisiae)-like 2)
(Previous symbol: C22orf6)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
SEC14-Like 2 (S. Cerevisiae)1 2     KIAA11863 5
C22orf61 2 3     SEC14 (S. Cerevisiae)-Like 21
Supernatant Protein Factor1 2 3     TAP12
TAP2 3 5     SEC14-Like Protein 22
Alpha-Tocopherol-Associated Protein2 3     Tocopherol-Associated Protein2
Squalene Transfer Protein2 3     KIAA16583
SPF2 3     hTAP3

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


(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 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 2 (S. cerevisiae)) is a protein-coding gene. Diseases associated with SEC14L2 include ornithine carbamoyltransferase deficiency, and gaucher's disease. GO annotations related to this gene include phospholipid binding and vitamin E binding. An important paralog of this gene is ENSG00000249590.

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 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NT_011520.12  NC_018933.2  
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 plasmidSEC14L2 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:
30,821,305 bp from pter
Size:
28,460 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for SEC14L2 at MOPED 

Post-translational modifications:

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

  • SEC14L2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    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  

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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus NAS11444841
    GO:0005737cytoplasm NAS10829015
    GO:0016021integral to membrane IEA--

    SEC14L2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     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 domains:
    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


    SEC14L2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 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): 3 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:0008431vitamin E binding NAS10829015
         
    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:
         MGI mouse knock-out Sec14l2tm1Arai for SEC14L2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SEC14L2 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 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): 4 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:0045893positive regulation of transcription, DNA-dependent NAS11444841

    SEC14L2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SEC14L2 (S14L2)

    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 inferred 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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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)
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    Additional mRNA 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):

    AL096881 BM705532 BU737593 NM_012429 CB850890 BX091297 CR456571 BM842564 
    H55520 BQ773720 BP350381 BQ007531 BC048337 BC058915 BM700218 CB163754 
    BM706345 BP361953 CR607299 BP348307 Z42076 AA626379 AI202053 BM708135 

    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

    (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)      SEC14L2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGACTGGCA
    SEC14L2 Expression
    About this image


    SEC14L2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             HyStem+TGFbeta3+GDF5-induced 7PEND24 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             HyStem+BMP4-induced E15 cells
     
     Intestine (Gastrointestinal Tract)
             duodenum   
     
     Adipose (Muscoskeletal System)
             HyStem+BMP4-induced E15 cells
     
     Fibroblast
             Human Choroid Plexus Fibroblasts (HCPF)   

    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 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 animals and fungi.

    Orthologs for SEC14L2 gene from 8/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sec14l21 , 5 SEC14-like 2 (S. cerevisiae)1, 5 88.75(n)1
    93.3(a)1
      11 (2.87 cM)5
    678151  NM_144520.21  NP_653103.11 
     40970395 
    chicken
    (Gallus gallus)
    Aves --
    --
    64(a)
    1 → many
    15(10804520-10813425)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    70(a)
    1 → many
    GL343417.1(136904-146295)
    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 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SEC146
    YKL091C6
    Phosphatidylinositol/phosphatidylcholine transfer ...
    Putative homolog of Sec14p, which is a phosphatidy...
    26(a)
    25(a)
    many ↔ many
    many ↔ many
    XIII(424989-426059)
    XI(269718-270650)


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

    (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



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/592 SNPs in SEC14L2 are shown (see all 592)    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
    F--30791010(+) AGATGC/TGGGGA 3 -- us2k11Minor allele frequency- T:0.01NA 120
    rs1401397251,2
    --30791242(+) AAGTGA/TCAAGC 3 -- us2k10--------
    rs1814160391,2
    --30791335(+) TGTTTG/TTTTTT 3 -- us2k10--------
    rs1503172811,2
    C--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
    rs1435901451,2
    --30791867(+) CTATGA/GAGGGG 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for SEC14L2 (30792846 - 30821305 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SEC14L2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv829171CNV Loss20364138
    nsv914970CNV Loss21882294

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SEC14L2
    DNA2.0 Custom Variant and Variant Library Synthesis for SEC14L2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607558    OMIM disorders: --

    11 diseases for SEC14L2:    About MalaCards
    ornithine carbamoyltransferase deficiency    gaucher's disease    prostate cancer    prostatitis
    retinitis    rheumatoid arthritis    arthritis    melanoma
    breast cancer    lung cancer    hepatitis


    SEC14L2 for disorders           About GeneDecksing

    3 Novoseek inferred 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)

    Genetic Association Database (GAD): SEC14L2
    Human Genome Epidemiology (HuGE) Navigator: SEC14L2 (5 documents)

    Export disorders for SEC14L2 gene to outside databases

    (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 71):
    (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. Association of variants in two vitamin e transport genes with circulating vitamin e concentrations and prostate cancer risk. (PubMed id 19190344)1, 4, 9 Wright M.E....Albanes D. (2009)
    7. Genetic susceptibility to distinct bladder cancer sub phenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (2010)
    8. PTEN identified as important risk factor of chronic o bstructive pulmonary disease. (PubMed id 19625176)1, 4 Hosgood H.D....Lan Q. (2009)
    9. Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China. (PubMed id 19170196)1, 4 Shen M....Lan Q. (2009)
    10. Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway. (PubMed id 18676680)1, 4 Hosgood H.D....Lan Q. (2008)

    (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)

    (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

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

    (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

    (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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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