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    SEC14L2 SEC14 like lipid binding 2 [ Homo sapiens (human) ]

    Gene ID: 23541, updated on 28-Oct-2024

    Summary

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    Official Symbol
    SEC14L2provided by HGNC
    Official Full Name
    SEC14 like lipid binding 2provided by HGNC
    Primary source
    HGNC:HGNC:10699
    See related
    Ensembl:ENSG00000100003 MIM:607558; AllianceGenome:HGNC:10699
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SPF; TAP; TAP1; C22orf6
    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 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]
    Expression
    Biased expression in liver (RPKM 34.2), prostate (RPKM 20.5) and 7 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SEC14L2 in Genome Data Viewer
    Location:
    22q12.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (30397018..30425303)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (30860348..30888644)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (30793007..30821291)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 157 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30766725-30767224 Neighboring gene KIAA1656 protein Neighboring gene ring finger protein 215 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18837 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13611 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30797780-30798280 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30798281-30798781 Neighboring gene Sharpr-MPRA regulatory region 13809 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:30817842-30818421 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13613 Neighboring gene RNA, U6 small nuclear 564, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:30822016-30822574 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30822575-30823134 Neighboring gene uncharacterized LOC105372990 Neighboring gene mitochondrial fission process 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30831805-30832326

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. TAP-ing into the cross-presentation secrets of dendritic cells. Yee Mon KJ, et al. Curr Opin Immunol, 2023 Aug. PMID 37116384
    2. Reduced expression of tocopherol-associated protein (TAP/Sec14L2) in human breast cancer. Wang X, et al. Cancer Invest, 2009 Dec. PMID 19909011
    3. Crystal structure of the human supernatant protein factor. Stocker A, et al. Structure, 2002 Nov. PMID 12429094
    4. Dual expression of alpha-tocopherol-associated protein and estrogen receptor in normal/benign human breast luminal cells and the downregulation of alpha-tocopherol-associated protein in estrogen-receptor-positive breast carcinomas. Johnykutty S, et al. Mod Pathol, 2009 Jun. PMID 19305383
    5. Alteration of α-tocopherol-associated protein (TAP) expression in human breast epithelial cells during breast cancer development. Tam KW, et al. Food Chem, 2013 Jun 1. PMID 23411208

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TAP-ing into the cross-presentation secrets of dendritic cells.
      Title: TAP-ing into the cross-presentation secrets of dendritic cells.
    2. Discovering master regulators in hepatocellular carcinoma: one novel MR, SEC14L2 inhibits cancer cells.
      Title: Discovering master regulators in hepatocellular carcinoma: one novel MR, SEC14L2 inhibits cancer cells.
    3. SEC14L2, a lipid-binding protein, regulates HCV replication in culture with inter- and intra-genotype variations.
      Title: SEC14L2, a lipid-binding protein, regulates HCV replication in culture with inter- and intra-genotype variations.
    4. Here, the authors report that the zebrafish/human phosphatidylinositol transfer protein Sec14l3/SEC14L2 act as GTPase proteins to transduce Wnt signals from Frizzled to phospholipase C (PLC).
      Title: The Sec14-like phosphatidylinositol transfer proteins Sec14l3/SEC14L2 act as GTPase proteins to mediate Wnt/Ca(2+) signaling.
    5. hTAP1 reduces the in vitro activity of the phosphatidylinositol-3-kinase gamma (PI3Kgamma) indicating the formation of a stalled/inactive hTAP1/PI3Kgamma heterodimer.
      Title: Modulation of phosphorylation of tocopherol and phosphatidylinositol by hTAP1/SEC14L2-mediated lipid exchange.
    6. PI3Kgamma-induced VEGF expression was reduced when the human tocopherol-associated protein 1 (hTAP1/SEC14L2) was overexpressed suggesting formation of an inactive PI3Kgamma/hTAP1 heterodimer.
      Title: Induction of VEGF expression by alpha-tocopherol and alpha-tocopheryl phosphate via PI3Kγ/PKB and hTAP1/SEC14L2-mediated lipid exchange.
    7. SEC14L2 enabled RNA replication of diverse HCV genotypes in several human hepatoma cell lines
      Title: SEC14L2 enables pan-genotype HCV replication in cell culture.
    8. novel association between the rs737723 polymorphism (SEC14L2/TAP) and higher primary open-angle glaucoma risk
      Title: Effects of polymorphisms in vitamin E-, vitamin C-, and glutathione peroxidase-related genes on serum biomarkers and associations with glaucoma.
    9. TAP expression was significantly correlated with Her2/neu receptor expression and breast cancer stage.
      Title: Alteration of α-tocopherol-associated protein (TAP) expression in human breast epithelial cells during breast cancer development.
    10. Discusses cloning of rat SEC14-like protein 3 and mentions three human SPF-related genes, known as SEC14-like protein 1, 2 and 3.
      Title: Rat supernatant protein factor-like protein stimulates squalene monooxygenase and is activated by protein kinase A.
    Submit: New GeneRIF Correction See all GeneRIFs (20)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genetic variants associated with breast size also influence breast cancer risk.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: MTFP1

    Homology

    Clone Names

    • KIAA1186, KIAA1658, MGC65053

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phospholipid binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables vitamin E binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of cholesterol biosynthetic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    SEC14-like protein 2
    Names
    alpha-tocopherol-associated protein
    squalene transfer protein
    supernatant protein factor
    tocopherol-associated protein 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001204204.3 → NP_001191133.1  SEC14-like protein 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two in-frame exons in the coding region, compared to variant 1. The encoded protein (isoform 3) is shorter than isoform 1.
      Source sequence(s)
      AA610131, AC004832, AK303751, DC375707, KF511442
      Consensus CDS
      CCDS56228.1
      UniProtKB/TrEMBL
      B3KRD8
      Related
      ENSP00000383882.3, ENST00000402592.7
      Conserved Domains (1) summary
      pfam00650
      Location:32 → 161
      CRAL_TRIO; CRAL/TRIO domain

    2. NM_001291932.2 → NP_001278861.1  SEC14-like protein 2 isoform 4

      See identical proteins and their annotated locations for NP_001278861.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate exon and begins translation at a downstream start codon compared to variant 1. The resulting isoform (4) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AA610131, AC004832, AK296540, DC375707, KF511442
      UniProtKB/TrEMBL
      B3KRD8, B7Z3Z8
      Related
      ENSP00000482467.1, ENST00000617837.4
      Conserved Domains (1) summary
      smart00516
      Location:22 → 190
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)

    3. NM_012429.5 → NP_036561.1  SEC14-like protein 2 isoform 1

      See identical proteins and their annotated locations for NP_036561.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AA610131, AC004832, AL096881
      Consensus CDS
      CCDS13876.1
      UniProtKB/Swiss-Prot
      B7Z8Q1, F5H3U4, O76054, Q53EQ2, Q6PD61, Q9ULN4
      UniProtKB/TrEMBL
      B2RAW8
      Related
      ENSP00000478755.1, ENST00000615189.5
      Conserved Domains (2) summary
      smart00516
      Location:76 → 244
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      smart01100
      Location:13 → 59
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain

    4. NM_033382.3 → NP_203740.1  SEC14-like protein 2 isoform 2

      See identical proteins and their annotated locations for NP_203740.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded protein (isoform 2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC004832, BC058915, BM680990, DC375707
      Consensus CDS
      CCDS46685.1
      UniProtKB/TrEMBL
      B2RAW8
      Related
      ENSP00000385186.3, ENST00000405717.7
      Conserved Domains (2) summary
      smart00516
      Location:76 → 244
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      smart01100
      Location:13 → 59
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      30397018..30425303
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      30860348..30888644
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O76054.1 GenPept UniProtKB/Swiss-Prot:O76054

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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