• Gene id: 23541

Gene Summary

• Gene Symbol: SEC14L2   Gene   UCSC   Ensembl
• Aliases: C22orf6, SPF, TAP, TAP1
• Gene name: SEC14 like lipid binding 2
• Alternate names: SEC14-like protein 2, alpha-tocopherol-associated protein, squalene transfer protein, supernatant protein factor, tocopherol-associated protein 1,
• Gene location: 22q12.2 (30396940: 30425302)     Exons: 4     NC_000022.11
• Gene summary(Entrez): 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 downstrea
• OMIM: 607558

Protein Summary

• Protein general information: O76054  
  • Name: SEC14 like protein 2 (Alpha tocopherol associated protein) (TAP) (hTAP) (Squalene transfer protein) (Supernatant protein factor) (SPF)
  • Length: 403  
  • Mass: 46145
  • Tissue specificity: Widely expressed. Strong expression in liver, brain and prostate. {ECO
• Sequence:

  MSGRVGDLSPRQKEALAKFRENVQDVLPALPNPDDYFLLRWLRARSFDLQKSEAMLRKHVEFRKQKDIDNIISWQ
  PPEVIQQYLSGGMCGYDLDGCPVWYDIIGPLDAKGLLFSASKQDLLRTKMRECELLLQECAHQTTKLGRKVETIT
  IIYDCEGLGLKHLWKPAVEAYGEFLCMFEENYPETLKRLFVVKAPKLFPVAYNLIKPFLSEDTRKKIMVLGANWK
  EVLLKHISPDQVPVEYGGTMTDPDGNPKCKSKINYGGDIPRKYYVRDQVKQQYEHSVQISRGSSHQVEYEILFPG
  CVLRWQFMSDGADVGFGIFLKTKMGERQRAGEMTEVLPNQRYNSHLVPEDGTLTCSDPGIYVLRFDNTYSFIHAK
  KVNFTVEVLLPDKASEEKMKQLGAGTPK

• Structural information:
  • Protein Domains: (76..24-)
    (/note="CRAL-TRIO-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00056-)
    (275..38-)
    (/note="GOLD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00096"-)
  • Interpro: IPR001251  IPR036865  IPR011074  IPR036273  IPR009038   IPR036598  
  • Prosite: PS50191 PS50866
  • CDD: cd00170
  • PDB: 1O6U 1OLM 4OMJ 4OMK
  • PDBsum: 1O6U 1OLM 4OMJ 4OMK
  • STRING: ENSP00000478755
• Other Databases: GeneCards:  SEC14L2  Malacards:  SEC14L2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008289	lipid binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0045540	regulation of cholesterol biosynthetic process	NAS	biological process
GO:0005634	nucleus	NAS	cellular component
GO:0005543	phospholipid binding	NAS	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	NAS	biological process
GO:0008431	vitamin E binding	NAS	molecular function
GO:0005737	cytoplasm	NAS	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881