• Gene id: 55858

Gene Summary

• Gene Symbol: TMEM165   Gene   UCSC   Ensembl
• Aliases: CDG2K, FT27, GDT1, TMPT27, TPARL
• Gene name: transmembrane protein 165
• Alternate names: transmembrane protein 165, TPA regulated locus, transmembrane protein PT27, transmembrane protein TPARL,
• Gene location: 4q12 (55395652: 55453396)     Exons: 9     NC_000004.12
• Gene summary(Entrez): This gene encodes a predicted transmembrane protein with a perinuclear Golgi-like distribution in fibroblasts. Mutations in this gene are associated with the autosomal recessive disorder congenital disorder of glycosylation, type IIk. Knockdown of this ge
• OMIM: 614726

SNPs

rs3749474

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.55434518C>T
NC_000004.11   g.56300685C>T
NM_004898.4   c.*897G>A
NM_004898.3   c.*897G>A
XM_011534409.2   c.*897G>A
XM_005265787.2   c.*897G>A
XM_005265787.1   c.*897G>A
XM_011534410.2   c.*897G>A
XM_011534411.2   c.*897G>A
NM_001267843.1   c.*897G>A
XM  

rs1801260

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.55435202A>G
NC_000004.11   g.56301369A>G
NM_004898.4   c.*213T>C
NM_004898.3   c.*213T>C
XM_011534409.2   c.*213T>C
XM_005265787.2   c.*213T>C
XM_005265787.1   c.*213T>C
XM_011534410.2   c.*213T>C
XM_011534411.2   c.*213T>C
NM_001267843.1   c.*213T>C
XM  

rs6811520

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.55449011T>C
NC_000004.11   g.56315178T>C|SEQ=[T/C]|GENE=CLOCK
TMEM165   55858

Protein Summary

• Protein general information: Q9HC07  
  • Name: Transmembrane protein 165 (Transmembrane protein PT27) (Transmembrane protein TPARL)
  • Length: 324  
  • Mass: 34906
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MAAAAPGNGRASAPRLLLLFLVPLLWAPAAVRAGPDEDLSHRNKEPPAPAQQLQPQPVAVQGPEPARVEKIFTPA
  APVHTNKEDPATQTNLGFIHAFVAAISVIIVSELGDKTFFIAAIMAMRYNRLTVLAGAMLALGLMTCLSVLFGYA
  TTVIPRVYTYYVSTVLFAIFGIRMLREGLKMSPDEGQEELEEVQAELKKKDEEFQRTKLLNGPGDVETGTSITVP
  QKKWLHFISPIFVQALTLTFLAEWGDRSQLTTIVLAAREDPYGVAVGGTVGHCLCTGLAVIGGRMIAQKISVRTV
  TIIGGIVFLAFAFSALFISPDSGF

• Structural information:
  • Interpro: IPR001727  
  • Prosite: PS01214
  • STRING: ENSP00000370736
• Other Databases: GeneCards:  TMEM165  Malacards:  TMEM165

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071421	manganese ion transmembrane transport	IBA	biological process
GO:0032472	Golgi calcium ion transport	IBA	biological process
GO:0015085	calcium ion transmembrane transporter activity	IBA	molecular function
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0070588	calcium ion transmembrane transport	IBA	biological process
GO:0046873	metal ion transmembrane transporter activity	IBA	molecular function
GO:0032468	Golgi calcium ion homeostasis	IBA	biological process
GO:0005384	manganese ion transmembrane transporter activity	IBA	molecular function
GO:0032588	trans-Golgi network membrane	IDA	cellular component
GO:0032472	Golgi calcium ion transport	IDA	biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0010008	endosome membrane	IDA	cellular component
GO:0035751	regulation of lysosomal lumen pH	IMP	biological process
GO:0006874	cellular calcium ion homeostasis	IGI	biological process
GO:0006487	protein N-linked glycosylation	IMP	biological process
GO:0005768	endosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0031902	late endosome membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component

Diseases

Associated diseases	References
Congenital disorders of glycosylation type II	KEGG:H00119
Congenital disorders of glycosylation type II	KEGG:H00119
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq