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

Gene ID: 23541, updated on 3-Nov-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
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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. SEC14L2 enables pan-genotype HCV replication in cell culture. Saeed M, et al. Nature, 2015 Aug 27. PMID 26266980, Free PMC Article
  2. 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
  3. Reduced expression of tocopherol-associated protein (TAP/Sec14L2) in human breast cancer. Wang X, et al. Cancer Invest, 2009 Dec. PMID 19909011
  4. Reduced expression of alpha-tocopherol-associated protein is associated with tumor cell proliferation and the increased risk of prostate cancer recurrence. Wen XQ, et al. Asian J Androl, 2007 Mar. PMID 17334589
  5. Tocopherol-associated protein suppresses prostate cancer cell growth by inhibition of the phosphoinositide 3-kinase pathway. Ni J, et al. Cancer Res, 2005 Nov 1. PMID 16267002

See all (50) 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

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Chemical Information
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