• Gene id: 7108

Gene Summary

• Gene Symbol: TM7SF2   Gene   UCSC   Ensembl
• Aliases: ANG1, C14SR, DHCR14A, NET47
• Gene name: transmembrane 7 superfamily member 2
• Alternate names: delta(14)-sterol reductase TM7SF2, 3-beta-hydroxysterol Delta (14)-reductase, C-14 sterol reductase, another new gene 1 protein, delta(14)-sterol reductase, delta-14-SR, putative sterol reductase SR-1, sterol C14-reductase,
• Gene location: 11q13.1 (65111853: 65116407)     Exons: 10     NC_000011.10
• OMIM: 616086

SNPs

rs35576928

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

NC_000016.10   g.11281137C>A
NC_000016.10   g.11281137C>G
NC_000016.9   g.11374994C>A
NC_000016.9   g.11374994C>G
NM_002761.3   c.102G>T
NM_002761.3   c.102G>C
NM_002761.2   c.102G>T
NM_002761.2   c.102G>C
NP_002752.1   p.Arg34Ser
NP_002752.1   p.Arg34Ser|SEQ=[C/A/G]|GE

rs2301365

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

NC_000016.10   g.11281429G>T
NC_000016.9   g.11375286G>T|SEQ=[G/T]|GENE=PRM1
LOC105371082   105371082

rs2070923

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

NC_000016.10   g.11275998G>C
NC_000016.10   g.11275998G>T
NC_000016.9   g.11369855G>C
NC_000016.9   g.11369855G>T|SEQ=[G/C/T]|GENE=PRM2
LOC105371082   105371082

rs1646022

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

NC_000016.10   g.11276073C>G
NC_000016.10   g.11276073C>T
NC_000016.9   g.11369930C>G
NC_000016.9   g.11369930C>T
NM_001286359.1   c.298G>C
NM_001286359.1   c.298G>A
NM_001286359.2   c.298G>C
NM_001286359.2   c.298G>A
NP_001273288.1   p.Ala100Pro
NP_001273288.1   p.Ala1

rs737008

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

NC_000016.10   g.11281009G>A
NC_000016.10   g.11281009G>T
NC_000016.9   g.11374866G>A
NC_000016.9   g.11374866G>T
NM_002761.3   c.139C>T
NM_002761.3   c.139C>A
NM_002761.2   c.139C>T
NM_002761.2   c.139C>A
NP_002752.1   p.Arg47Ter|SEQ=[G/A/T]|GENE=PRM1
LOC1053710  

Protein Summary

• Protein general information: O76062  
  • Name: Delta(14) sterol reductase TM7SF2 (Delta 14 SR) (EC 1.3.1.70) (3 beta hydroxysterol Delta (14) reductase) (Another new gene 1 protein) (C 14 sterol reductase) (C14SR) (Putative sterol reductase SR 1) (Sterol C14 reductase) (Transmembrane 7 superfamily mem
  • Length: 418  
  • Mass: 46406
  • Tissue specificity: Expressed in adult heart, brain, pancreas, lung, liver, skeletal muscle, kidney, ovary, prostate, testis and adrenal gland, but not detected in placenta, spleen, thymus, small intestine, colon (mucosal lining), or peripheral blood leuk
• Sequence:

  MAPTQGPRAPLEFGGPLGAAALLLLLPATMFHLLLAARSGPARLLGPPASLPGLEVLWSPRALLLWLAWLGLQAA
  LYLLPARKVAEGQELKDKSRLRYPINGFQALVLTALLVGLGMSAGLPLGALPEMLLPLAFVATLTAFIFSLFLYM
  KAQVAPVSALAPGGNSGNPIYDFFLGRELNPRICFFDFKYFCELRPGLIGWVLINLALLMKEAELRGSPSLAMWL
  VNGFQLLYVGDALWHEEAVLTTMDITHDGFGFMLAFGDMAWVPFTYSLQAQFLLHHPQPLGLPMASVICLINATG
  YYIFRGANSQKNTFRKNPSDPRVAGLETISTATGRKLLVSGWWGMVRHPNYLGDLIMALAWSLPCGVSHLLPYFY
  LLYFTALLVHREARDERQCLQKYGLAWQEYCRRVPYRIMPYIY

• Structural information:
  • Interpro: IPR001171  IPR018083  
  • Prosite: PS01017 PS01018
  • STRING: ENSP00000279263
• Other Databases: GeneCards:  TM7SF2  Malacards:  TM7SF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005637	nuclear inner membrane	IBA	cellular component
GO:0030176	integral component of endoplasmic reticulum membrane	IBA	cellular component
GO:0016126	sterol biosynthetic process	IBA	biological process
GO:0016627	oxidoreductase activity, acting on the CH-CH group of donors	IBA	molecular function
GO:0006695	cholesterol biosynthetic process	IDA	biological process
GO:0050613	delta14-sterol reductase activity	IDA	molecular function
GO:0016628	oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016126	sterol biosynthetic process	IEA	biological process
GO:0006695	cholesterol biosynthetic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0016126	sterol biosynthetic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0050613	delta14-sterol reductase activity	IEA	molecular function
GO:0043235	receptor complex	IDA	cellular component
GO:0050613	delta14-sterol reductase activity	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006695	cholesterol biosynthetic process	TAS	biological process
GO:0045540	regulation of cholesterol biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006695	cholesterol biosynthetic process	IEA	biological process
GO:0006695	cholesterol biosynthetic process	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0050613	delta14-sterol reductase activity	IEA	molecular function
GO:0031090	organelle membrane	IEA	cellular component
GO:0050613	delta14-sterol reductase activity	IEA	molecular function
GO:0031090	organelle membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0031090	organelle membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0006695	cholesterol biosynthetic process	IEA	biological process
GO:0050661	NADP binding	ISS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00100	Steroid biosynthesis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq