TEX11 (testis expressed 11)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
56159
Gene name Gene Name - the full gene name approved by the HGNC.
Testis expressed 11
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TEX11
Synonyms (NCBI Gene) Gene synonyms aliases
MZIP4, SPGFX2, Spo22, TGC1, TSGA3, ZIP4, ZIP4H
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq13.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300311 11733 ENSG00000120498
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
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
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Endometriosis Endometriosis N/A N/A GWAS
Male infertility male infertility with azoospermia or oligozoospermia due to single gene mutation N/A N/A GenCC
Prostate cancer Prostate cancer N/A N/A GWAS
Spermatogenic Failure, X-Linked spermatogenic failure, x-linked, 2, spermatogenic failure, X-linked, 2 N/A N/A ClinVar, GenCC
Show/Hide Text Mining Associations (12)
Associations from Text Mining Disease 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