• Gene id: 56159

Gene Summary

• Gene Symbol: TEX11   Gene   UCSC   Ensembl
• Aliases: SPGFX2, TGC1, TSGA3
• Gene name: testis expressed 11
• Alternate names: testis-expressed protein 11, testis expressed sequence 11, testis-expressed sequence 11 protein,
• Gene location: Xq13.1 (70908716: 70511226)     Exons: 36     NC_000023.11
• Gene summary(Entrez): This gene is X-linked and is expressed in only male germ cells. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
• OMIM: 300311

SNPs

rs147088100

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

NC_000023.11   g.70853248G>A
NC_000023.10   g.70073098G>A
NG_012574.2   g.60470C>T
NG_012574.1   g.60470C>T
NM_031276.2   c.405C>T
NM_031276.3   c.405C>T
NM_001003811.1   c.450C>T
NM_001003811.2   c.450C>T
XM_011530994.1   c.405C>T
XM_017029649.1   c.405C>T|SEQ=[G/A]|GE

rs143246552

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

NC_000023.11   g.70853093T>C
NC_000023.10   g.70072943T>C
NG_012574.2   g.60625A>G
NG_012574.1   g.60625A>G
NM_031276.3   c.466A>G
NM_031276.2   c.466A>G
NM_001003811.2   c.511A>G
NM_001003811.1   c.511A>G
XM_011530994.1   c.466A>G
XM_017029649.1   c.466A>G
NP_112566.2  

rs140984555

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

NC_000023.11   g.70605421C>T
NC_000023.10   g.69825271C>T
NG_012574.2   g.308297G>A
NG_012574.1   g.308297G>A
NM_031276.2   c.2047G>A
NM_031276.3   c.2047G>A
NM_001003811.1   c.2092G>A
NM_001003811.2   c.2092G>A
XM_017029652.2   c.856G>A
XM_011530994.1   c.2047G>A
XM_01  

rs6525433

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

NC_000023.11   g.70853309T>C
NC_000023.10   g.70073159T>C
NG_012574.2   g.60409A>G
NG_012574.1   g.60409A>G
NM_031276.3   c.344A>G
NM_031276.2   c.344A>G
NM_001003811.2   c.389A>G
NM_001003811.1   c.389A>G
XM_011530994.1   c.344A>G
XM_017029649.1   c.344A>G
NP_112566.2  

rs4844247

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

NC_000023.11   g.70670451C>T
NC_000023.10   g.69890301C>T
NG_012574.2   g.243267G>A
NG_012574.1   g.243267G>A
NM_031276.3   c.1306G>A
NM_031276.2   c.1306G>A
NM_001003811.2   c.1351G>A
NM_001003811.1   c.1351G>A
XM_017029652.2   c.115G>A
XM_011530994.1   c.1306G>A
XM_01  

Protein Summary

• Protein general information: Q8IYF3  
  • Name: Testis expressed protein 11
  • Length: 940  
  • Mass: 107,889
• Sequence:

  MISAHCNLRLLCSSDSSASASQVAGTTEVVENLVTNDNSPNIPEAIDRLFSDIANINRESMAEITDIQIEEMAVN
  LWNWALTIGGGWLVNEEQKIRLHYVACKLLSMCEASFASEQSIQRLIMMNMRIGKEWLDAGNFLIADECFQAAVA
  SLEQLYVKLIQRSSPEADLTMEKITVESDHFRVLSYQAESAVAQGDFQRASMCVLQCKDMLMRLPQMTSSLHHLC
  YNFGVETQKNNKYEESSFWLSQSYDIGKMDKKSTGPEMLAKVLRLLATNYLDWDDTKYYDKALNAVNLANKEHLS
  SPGLFLKMKILLKGETSNEELLEAVMEILHLDMPLDFCLNIAKLLMDHERESVGFHFLTIIHERFKSSENIGKVL
  ILHTDMLLQRKEELLAKEKIEEIFLAHQTGRQLTAESMNWLHNILWRQAASSFEVQNYTDALQWYYYSLRFYSTD
  EMDLDFTKLQRNMACCYLNLQQLDKAKEAVAEAERHDPRNVFTQFYIFKIAVIEGNSERALQAIITLENILTDEE
  SEDNDLVAERGSPTMLLSLAAQFALENGQQIVAEKALEYLAQHSEDQEQVLTAVKCLLRFLLPKIAEMPESEDKK
  KEMDRLLTCLNRAFVKLSQPFGEEALSLESRANEAQWFRKTAWNLAVQCDKDPVMMREFFILSYKMSQFCPSDQV
  ILIARKTCLLMAVAVDLEQGRKASTAFEQTMFLSRALEEIQTCNDIHNFLKQTGTFSNDSCEKLLLLYEFEVRAK
  LNDPLLESFLESVWELPHLETKTFETIAIIAMEKPAHYPLIALKALKKALLLYKKEEPIDISQYSKCMHNLVNLS
  VPDGASNVELCPLEEVWGYFEDALSHISRTKDYPEMEILWLMVKSWNTGVLMFSRSKYASAEKWCGLALRFLNHL
  TSFKESYETQMNMLYSQLVEALSNNKGPVFHEHGYWSKSD

• Structural information:
  • Interpro: IPR013940  IPR011990  IPR019734  
  • STRING: ENSP00000340995
• Other Databases: GeneCards:  TEX11  Malacards:  TEX11

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000712	resolution of meiotic recombination intermediates	IEA	biological process
GO:0000801	central element	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006311	meiotic gene conversion	ISS	biological process
GO:0007060	male meiosis chromosome segregation	IEA	biological process
GO:0007130	synaptonemal complex assembly	IEA	biological process
GO:0007131	reciprocal meiotic recombination	ISS	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0009566	fertilization	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0051026	chiasma assembly	IEA	biological process
GO:0000795	synaptonemal complex	ISS	cellular component
GO:0000712	resolution of meiotic recombination intermediates	IEA	biological process
GO:0000794	condensed nuclear chromosome	IEA	cellular component
GO:0000795	synaptonemal complex	IEA	cellular component
GO:0000801	central element	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0006311	meiotic gene conversion	IEA	biological process
GO:0006311	meiotic gene conversion	ISS	biological process
GO:0007060	male meiosis chromosome segregation	IEA	biological process
GO:0007130	synaptonemal complex assembly	IEA	biological process
GO:0007131	reciprocal meiotic recombination	IEA	biological process
GO:0007131	reciprocal meiotic recombination	ISS	biological process
GO:0007140	male meiosis	IEA	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0009566	fertilization	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0051026	chiasma assembly	IEA	biological process
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0000795	synaptonemal complex	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006311	meiotic gene conversion	ISS	biological process
GO:0007131	reciprocal meiotic recombination	ISS	biological process
GO:0000795	synaptonemal complex	ISS	cellular component

Diseases

Associated diseases	References
Meiotic arrest	MIK: 26853013
Male factor infertility	MIK: 26086992
Azoospermia	MIK: 26086992
Oligozoospermia	MIK: 26086992
Azoospermia	MIK: 25970010
Male infertility	MIK: 26086992
Oligozoospermia	MIK: 26086992
Meiotic Arrest	MIK: 26853013
Azoospermia	MIK: 26853013
Male infertility	MIK: 26853013
Non-obstructive azoospermia	MIK: 28718531
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
26086992	Male infertility, Azoospermia, oligozoospermia	rs6525433, rs175080, rs6525433-rs4844247, and rs1800734-rs175080	China	614 (316 patients (244 men with azoospermia, 72 men with oligozoospermia), 298 controls)	Male infertility	TEX11 TEX15  MLH1 and MLH3
25970010	Azoospermia	99-kb hemizygous loss on chromosome Xq13.2 that involved three TEX11 exons		673 (289 patients with azoospermia, 384 controls)	Male infertility
26853013	Meiotic Arrest, Azoospermia, Male infertility			673 (289 patients with azoospermia, spermatogenetic dysfunction, 384 controls with normal sperm concentrations)	Male infertility	Meiotic Arrest Azoospermia Male infertility
28718531	Non-obstructive azoospermia	c.A511G, p.(Met171Val) (rs143246552)	Japanes e	40 patients with idiopathic non-obstructive azoospermia	Male infertility	NGS
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)