TEX11 (testis expressed 11)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID 56159
Gene name Testis expressed 11
Gene symbol TEX11
Synonyms (NCBI Gene)
MZIP4SPGFX2Spo22TGC1TSGA3ZIP4ZIP4H
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 information provided by dbSNP.
3
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (3)
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) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (28)
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300311 11733 ENSG00000120498
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Non-obstructive azoospermia Pathogenic rs2147923995, rs2147552254, rs2147608548, rs2147649959, rs2147658893, rs2147744889, rs2147858567 RCV001580183
RCV001580181
RCV001580182
RCV001580185
RCV001580184
RCV001580187
RCV001580186
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Spermatogenic failure, X-linked, 2 Conflicting classifications of pathogenicity; Benign; Likely benign rs143246552, rs140984555, rs147088100 RCV000173008
RCV000173009
RCV000173010
TEX11-related disorder Benign; Likely benign rs147088100, rs4844247, rs16991177, rs55853716, rs376114732, rs144951375, rs372962201, rs775098071, rs150818139, rs575754903, rs200139216 RCV003965238
RCV003974347
RCV003974549
RCV003924450
RCV003934680
RCV003949419
RCV003978989
RCV003967109
RCV003950482
RCV003925844
RCV004758785
Show/Hide Text Mining Associations (12)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Arrest of spermatogenesis Associate 35413094
Asthenozoospermia Associate 30544396
Azoospermia Associate 28718531, 33728612, 33762476, 35248021, 35366911, 35413094, 35849255, 37124723
Colorectal Neoplasms Associate 36394757
Heart Defects Congenital Associate 33982443
Infertility Associate 37124723
Intellectual Disability Associate 33982443
Language Development Disorders Associate 33982443
Mental Disorders Associate 33982443
Oligospermia Associate 32655042, 35248021