• Gene id: 57231

Gene Summary

• Gene Symbol: SNX14   Gene   UCSC   Ensembl
• Aliases: RGS-PX2, SCAR20
• Gene name: sorting nexin 14
• Alternate names: sorting nexin-14,
• Gene location: 6q14.3 (85594155: 85505495)     Exons: 31     NC_000006.12
• Gene summary(Entrez): This gene encodes a member of the sorting nexin family. Members of this family have a phox (PX) phosphoinositide binding domain and are involved in intracellular trafficking. The encoded protein also contains a regulator of G protein signaling (RGS) domai
• OMIM: 616105

Protein Summary

• Protein general information: Q9Y5W7  
  • Name: Sorting nexin 14
  • Length: 946  
  • Mass: 110182
  • Tissue specificity: Widely expressed both in fetal and adult tissues. {ECO
• Sequence:

  MVPWVRTMGQKLKQRLRLDVGREICRQYPLFCFLLLCLSAASLLLNRYIHILMIFWSFVAGVVTFYCSLGPDSLL
  PNIFFTIKYKPKQLGLQELFPQGHSCAVCGKVKCKRHRPSLLLENYQPWLDLKISSKVDASLSEVLELVLENFVY
  PWYRDVTDDESFVDELRITLRFFASVLIRRIHKVDIPSIITKKLLKAAMKHIEVIVKARQKVKNTEFLQQAALEE
  YGPELHVALRSRRDELHYLRKLTELLFPYILPPKATDCRSLTLLIREILSGSVFLPSLDFLADPDTVNHLLIIFI
  DDSPPEKATEPASPLVPFLQKFAEPRNKKPSVLKLELKQIREQQDLLFRFMNFLKQEGAVHVLQFCLTVEEFNDR
  ILRPELSNDEMLSLHEELQKIYKTYCLDESIDKIRFDPFIVEEIQRIAEGPYIDVVKLQTMRCLFEAYEHVLSLL
  ENVFTPMFCHSDEYFRQLLRGAESPTRNSKLNRGSLSLDDFRNTQKRGESFGISRIGSKIKGVFKSTTMEGAMLP
  NYGVAEGEDDFIEEGIVVMEDDSPVEAVSTPNTPRNLAAWKISIPYVDFFEDPSSERKEKKERIPVFCIDVERND
  RRAVGHEPEHWSVYRRYLEFYVLESKLTEFHGAFPDAQLPSKRIIGPKNYEFLKSKREEFQEYLQKLLQHPELSN
  SQLLADFLSPNGGETQFLDKILPDVNLGKIIKSVPGKLMKEKGQHLEPFIMNFINSCESPKPKPSRPELTILSPT
  SENNKKLFNDLFKNNANRAENTERKQNQNYFMEVMTVEGVYDYLMYVGRVVFQVPDWLHHLLMGTRILFKNTLEM
  YTDYYLQCKLEQLFQEHRLVSLITLLRDAIFCENTEPRSLQDKQKGAKQTFEEMMNYIPDLLVKCIGEETKYESI
  RLLFDGLQQPVLNKQLTYVLLDIVIQELFPELNKVQKEVTSVTSWM

• Structural information:
  • Protein Domains: (130..30-)
    (/note="PXA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00147,-ECO:0000255|PROSITE-ProRule:PRU00553)
    (336..46-)
    (/note="RGS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00171-)
    (570..69-)
    (/note="PX-)
    (/evidence="ECO:0000255-)
  • Interpro: IPR001683  IPR003114  IPR036871  IPR016137  IPR036305   IPR037436  IPR037892  IPR013937  
  • Prosite: PS50195 PS51207 PS50132
  • CDD: cd06877 cd08722
  • PDB: 4BGJ 4PQO 4PQP
  • PDBsum: 4BGJ 4PQO 4PQP
  • STRING: ENSP00000313121
• Other Databases: GeneCards:  SNX14  Malacards:  SNX14

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005764	lysosome	IDA	cellular component
GO:0080025	phosphatidylinositol-3,5-bisphosphate binding	IDA	molecular function
GO:0005770	late endosome	IDA	cellular component
GO:0097352	autophagosome maturation	IMP	biological process
GO:0080025	phosphatidylinositol-3,5-bisphosphate binding	IEA	molecular function
GO:0035091	phosphatidylinositol binding	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0031902	late endosome membrane	IEA	cellular component

Diseases

Associated diseases	References
Autosomal recessive spinocerebellar ataxias	KEGG:H01891
Autosomal recessive spinocerebellar ataxias	KEGG:H01891
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)