• Gene id: 81839

Gene Summary

• Gene Symbol: VANGL1   Gene   UCSC   Ensembl
• Aliases: KITENIN, LPP2, STB2, STBM2
• Gene name: VANGL planar cell polarity protein 1
• Alternate names: vang-like protein 1, KAI1 C-terminal interacting tetraspanin, loop-tail protein 2 homolog, strabismus 2, van Gogh-like protein 1, vang-like 1 (van gogh, Drosophila),
• Gene location: 1p13.1 (115641969: 115698223)     Exons: 9     NC_000001.11
• Gene summary(Entrez): This gene encodes a member of the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tube defects. Alternate spl

Protein Summary

• Protein general information: Q8TAA9  
  • Name: Vang like protein 1 (Loop tail protein 2 homolog) (LPP2) (Strabismus 2) (Van Gogh like protein 1)
  • Length: 524  
  • Mass: 59975
  • Tissue specificity: According to PubMed
• Sequence:

  MDTESTYSGYSYYSSHSKKSHRQGERTRERHKSPRNKDGRGSEKSVTIQPPTGEPLLGNDSTRTEEVQDDNWGET
  TTAITGTSEHSISQEDIARISKDMEDSVGLDCKRYLGLTVASFLGLLVFLTPIAFILLPPILWRDELEPCGTICE
  GLFISMAFKLLILLIGTWALFFRKRRADMPRVFVFRALLLVLIFLFVVSYWLFYGVRILDSRDRNYQGIVQYAVS
  LVDALLFIHYLAIVLLELRQLQPMFTLQVVRSTDGESRFYSLGHLSIQRAALVVLENYYKDFTIYNPNLLTASKF
  RAAKHMAGLKVYNVDGPSNNATGQSRAMIAAAARRRDSSHNELYYEEAEHERRVKKRKARLVVAVEEAFIHIQRL
  QAEEQQKAPGEVMDPREAAQAIFPSMARALQKYLRITRQQNYHSMESILQHLAFCITNGMTPKAFLERYLSAGPT
  LQYDKDRWLSTQWRLVSDEAVTNGLRDGIVFVLKCLDFSLVVNVKKIPFIILSEEFIDPKSHKFVLRLQSETSV

• Structural information:
  • Interpro: IPR009539  
  • STRING: ENSP00000347672
• Other Databases: GeneCards:  VANGL1  Malacards:  VANGL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	NAS	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043473	pigmentation	IEA	biological process
GO:0016328	lateral plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04310	Wnt signaling pathway

Diseases

Associated diseases	References
Spina bifida	KEGG:H00262
Caudal regression syndrome and Sirenomelia	KEGG:H00979
Spina bifida	KEGG:H00262
Caudal regression syndrome and Sirenomelia	KEGG:H00979
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881