TEX11 (testis expressed 11)

Gene

• Entrez ID: 56159
• Gene name: Testis expressed 11
• Gene symbol: TEX11
• Synonyms (NCBI Gene): MZIP4, SPGFX2, Spo22, TGC1, TSGA3, ZIP4, ZIP4H
• Chromosome: X
• Chromosome location: Xq13.1
• Summary: 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs140984555	C>T	Pathogenic	Coding sequence variant, missense variant
rs143246552	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs147088100	G>A	Benign, pathogenic	Synonymous variant, genic upstream transcript variant, coding sequence variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000712	Process	Resolution of meiotic recombination intermediates	IEA
GO:0000794	Component	Condensed nuclear chromosome	IEA
GO:0000795	Component	Synaptonemal complex	IEA
GO:0000795	Component	Synaptonemal complex	ISS
GO:0000801	Component	Central element	IBA
GO:0000801	Component	Central element	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 25910212, 26871637, 27107012, 29742103, 30886144, 32296183, 32814053
GO:0005694	Component	Chromosome	IEA
GO:0005694	Component	Chromosome	ISS
GO:0006311	Process	Meiotic gene conversion	IEA
GO:0006311	Process	Meiotic gene conversion	ISS
GO:0006915	Process	Apoptotic process	IEA
GO:0007060	Process	Male meiosis chromosome segregation	IBA
GO:0007060	Process	Male meiosis chromosome segregation	IEA
GO:0007130	Process	Synaptonemal complex assembly	IBA
GO:0007130	Process	Synaptonemal complex assembly	IEA
GO:0007131	Process	Reciprocal meiotic recombination	IBA
GO:0007131	Process	Reciprocal meiotic recombination	IEA
GO:0007131	Process	Reciprocal meiotic recombination	ISS
GO:0007140	Process	Male meiotic nuclear division	IEA
GO:0008584	Process	Male gonad development	IEA
GO:0009566	Process	Fertilization	IEA
GO:0035234	Process	Ectopic germ cell programmed cell death	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0051026	Process	Chiasma assembly	IEA
GO:0051093	Process	Negative regulation of developmental process	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:2000242	Process	Negative regulation of reproductive process	IEA

Other IDs

• MIM: 300311
• HGNC: 11733
• e!Ensembl: ENSG00000120498

Protein

• UniProt ID: Q8IYF3
• Protein name: Testis-expressed protein 11 (Protein ZIP4 homolog) (ZIP4H)
• Protein function: Regulator of crossing-over during meiosis. Involved in initiation and/or maintenance of chromosome synapsis and formation of crossovers.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08631	SPO22	190 → 445	Meiosis protein SPO22/ZIP4 like	Family

• Tissue specificity: TISSUE SPECIFICITY: Testis-specific. Not expressed in adult ovaries. {ECO:0000269|PubMed:18369460}.
• Sequence:

  MISAHCNLRLLCSSDSSASASQVAGTTEVVENLVTNDNSPNIPEAIDRLFSDIANINRES
  MAEITDIQIEEMAVNLWNWALTIGGGWLVNEEQKIRLHYVACKLLSMCEASFASEQSIQR
  LIMMNMRIGKEWLDAGNFLIADECFQAAVASLEQLYVKLIQRSSPEADLTMEKITVESDH
  FRVLSYQAESAVAQGDFQRASMCVLQCKDMLMRLPQMTSSLHHLCYNFGVETQKNNKYEE
  SSFWLSQSYDIGKMDKKSTGPEMLAKVLRLLATNYLDWDDTKYYDKALNAVNLANKEHLS
  SPGLFLKMKILLKGETSNEELLEAVMEILHLDMPLDFCLNIAKLLMDHERESVGFHFLTI
  IHERFKSSENIGKVLILHTDMLLQRKEELLAKEKIEEIFLAHQTGRQLTAESMNWLHNIL
  WRQAASSFEVQNYTDALQWYYYSLRFYSTDEMDLDFTKLQRNMACCYLNLQQLDKAKEAV
  AEAERHDPRNVFTQFYIFKIAVIEGNSERALQAIITLENILTDEESEDNDLVAERGSPTM
  LLSLAAQFALENGQQIVAEKALEYLAQHSEDQEQVLTAVKCLLRFLLPKIAEMPESEDKK
  KEMDRLLTCLNRAFVKLSQPFGEEALSLESRANEAQWFRKTAWNLAVQCDKDPVMMREFF
  ILSYKMSQFCPSDQVILIARKTCLLMAVAVDLEQGRKASTAFEQTMFLSRALEEIQTCND
  IHNFLKQTGTFSNDSCEKLLLLYEFEVRAKLNDPLLESFLESVWELPHLETKTFETIAII
  AMEKPAHYPLIALKALKKALLLYKKEEPIDISQYSKCMHNLVNLSVPDGASNVELCPLEE
  VWGYFEDALSHISRTKDYPEMEILWLMVKSWNTGVLMFSRSKYASAEKWCGLALRFLNHL
  TSFKESYETQMNMLYSQLVEALSNNKGPVFHEHGYWSKSD

• Sequence length: 940

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Non-obstructive azoospermia	Pathogenic	rs2147923995, rs2147552254, rs2147608548, rs2147649959, rs2147658893, rs2147744889, rs2147858567	RCV001580183 RCV001580181 RCV001580182 RCV001580185 RCV001580184 RCV001580187 RCV001580186	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spermatogenic failure, X-linked, 2	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO CTD, ClinVar, Disgenet, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
TESTICULAR AZOOSPERMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TEX11-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Arrest of spermatogenesis	Associate	35413094	★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Associate	30544396	★☆☆☆☆ Found in Text Mining only
Azoospermia	Associate	28718531, 33728612, 33762476, 35248021, 35366911, 35413094, 35849255, 37124723	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	36394757	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Associate	33982443	★☆☆☆☆ Found in Text Mining only
Infertility	Associate	37124723	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Associate	33982443	★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Associate	33982443	★☆☆☆☆ Found in Text Mining only
Mental Disorders	Associate	33982443	★☆☆☆☆ Found in Text Mining only
Oligospermia	Associate	32655042, 35248021	★☆☆☆☆ Found in Text Mining only
Testicular Diseases	Associate	33728612	★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Associate	36319719	★☆☆☆☆ Found in Text Mining only