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

Summary

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

Location:: 22q12.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (30397018..30425303)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (30860348..30888644)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (30793007..30821291)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TAP-ing into the cross-presentation secrets of dendritic cells.
Title: TAP-ing into the cross-presentation secrets of dendritic cells.
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.
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.
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.
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.
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.
SEC14L2 enabled RNA replication of diverse HCV genotypes in several human hepatoma cell lines
Title: SEC14L2 enables pan-genotype HCV replication in cell culture.
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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A004Y09 (e-PCR)
- UniSTS:62286

D22S1023E.1 (e-PCR)
- UniSTS:87712

SHGC-58605 (e-PCR)
- UniSTS:94421

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 more info	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)

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
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)
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
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