• Gene id: 23753

Gene Summary

• Gene Symbol: SDF2L1   Gene   UCSC   Ensembl
• Gene name: stromal cell derived factor 2 like 1
• Alternate names: stromal cell-derived factor 2-like protein 1, PWP1-interacting protein 8, SDF2-like 1, SDF2-like protein 1, dihydropyrimidinase-like 2,
• Gene location: 22q11.21 (73886858: 73932520)     Exons: 15     NC_000014.9
• OMIM: 607551

Protein Summary

• Protein general information: Q9HCN8  
  • Name: Stromal cell derived factor 2 like protein 1 (SDF2 like protein 1) (PWP1 interacting protein 8)
  • Length: 221  
  • Mass: 23598
  • Tissue specificity: Ubiquitously expressed with high expression in testis, moderate expression in the pancreas, spleen, prostate, small intestine and colon. Very low expression is seen in brain and skeletal muscle. {ECO
• Sequence:

  MWSAGRGGAAWPVLLGLLLALLVPGGGAAKTGAELVTCGSVLKLLNTHHRVRLHSHDIKYGSGSGQQSVTGVEAS
  DDANSYWRIRGGSEGGCPRGSPVRCGQAVRLTHVLTGKNLHTHHFPSPLSNNQEVSAFGEDGEGDDLDLWTVRCS
  GQHWEREAAVRFQHVGTSVFLSVTGEQYGSPIRGQHEVHGMPSANTHNTWKAMEGIFIKPSVEPSAGHDEL

• Structural information:
  • Protein Domains: (33..8-)
    (/note="MIR-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00131-)
    (95..15-)
    (/note="MIR-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00131-)
    (151..20-)
    (/note="MIR-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00131"-)
  • Interpro: IPR036300  IPR016093  
  • Prosite: PS00014 PS50919
  • STRING: ENSP00000248958
• Other Databases: GeneCards:  SDF2L1  Malacards:  SDF2L1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0004169	dolichyl-phosphate-mannose-protein mannosyltransferase activity	IBA	molecular function
GO:0035269	protein O-linked mannosylation	IBA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0051787	misfolded protein binding	IEA	molecular function
GO:0071218	cellular response to misfolded protein	IEA	biological process
GO:0071712	ER-associated misfolded protein catabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0034976	response to endoplasmic reticulum stress	IEA	biological process
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0051087	chaperone binding	IEA	molecular function
GO:0051117	ATPase binding	IEA	molecular function
GO:0034663	endoplasmic reticulum chaperone complex	IEA	cellular component
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray