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

Gene ID: 23541, updated on 11-Jun-2021

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
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

See SEC14L2 in Genome Data Viewer
Location:
22q12.2
Exon count:
12
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (30397018..30425303)
105.20201022 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 KIAA1656 protein Neighboring gene ring finger protein 215 Neighboring gene uncharacterized LOC105372989 Neighboring gene RNA, U6 small nuclear 564, pseudogene Neighboring gene uncharacterized LOC105372990 Neighboring gene mitochondrial fission process 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genetic variants associated with breast size also influence breast cancer risk.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
Component Evidence Code Pubs
located_in cytoplasm NAS
Non-traceable Author Statement
more info
PubMed 
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

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_001204204.3NP_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/Swiss-Prot
    O76054
    Related
    ENSP00000383882.3, ENST00000402592.7
    Conserved Domains (1) summary
    pfam00650
    Location:32161
    CRAL_TRIO; CRAL/TRIO domain
  2. NM_001291932.2NP_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
    B7Z3Z8
    Related
    ENSP00000482467.1, ENST00000617837.4
    Conserved Domains (1) summary
    smart00516
    Location:22190
    SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
  3. NM_012429.5NP_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
    O76054
    UniProtKB/TrEMBL
    A0A024R1I5
    Related
    ENSP00000478755.1, ENST00000615189.5
    Conserved Domains (2) summary
    smart00516
    Location:76244
    SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
    smart01100
    Location:1359
    CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
  4. NM_033382.3NP_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/Swiss-Prot
    O76054
    Related
    ENSP00000385186.3, ENST00000405717.7
    Conserved Domains (2) summary
    smart00516
    Location:76244
    SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
    smart01100
    Location:1359
    CRAL_TRIO_N; CRAL/TRIO, N-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

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