MEIOB (meiosis specific with OB-fold)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
254528
Gene name Gene Name - the full gene name approved by the HGNC.
Meiosis specific with OB-fold
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MEIOB
Synonyms (NCBI Gene) Gene synonyms aliases
C16orf73, POF23, SPGF22, gs129
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.3
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs1555472691 T>A Pathogenic Missense 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(33)
GO ID Ontology Definition Evidence Reference
GO:0000712 Process Resolution of meiotic recombination intermediates IBA
GO:0000712 Process Resolution of meiotic recombination intermediates IEA
GO:0000712 Process Resolution of meiotic recombination intermediates ISS
GO:0000724 Process Double-strand break repair via homologous recombination IEA
GO:0000724 Process Double-strand break repair via homologous recombination ISS
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
617670 28569 ENSG00000162039
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Q8N635
Protein name Meiosis-specific with OB domain-containing protein (EC 3.1.-.-)
Protein function Single-stranded DNA-binding protein required for homologous recombination in meiosis I. Required for double strand breaks (DSBs) repair and crossover formation and promotion of faithful and complete synapsis. Not required for the initial loading
Family and domains
Tissue specificity TISSUE SPECIFICITY: In fetal gonads, specifically expressed in the ovary starting at the 14th weeks post fertilization (PubMed:24068956). In the adult, restricted to testis (PubMed:28206990). {ECO:0000269|PubMed:24068956, ECO:0000269|PubMed:28206990}.
Sequence 
MANSFAARIFTTLSDLQTNMANLKVIGIVIGKTDVKGFPDRKNIGSERYTFSFTIRDSPA
HFVNAASWGNEDYIKSLSDSFRVGDCVIIENPLIQRKEIEREEKFSPATPSNCKLLLSEN
HSTVKVCSSYEVDTKLLSLIHLPVKESHDYYSLGDIVANGHSLNGRIINVLAAVKSVGEP
KYFTTSDRRKGQRCEVRLYDETESSFAMTCWDNESILLAQSWMPRETVIFASDVRINFDK
FRNCMTATVISKTIITTNPDIPEANILLNFIRENKETNVLDDEIDSYFKESINLSTIVDV
YTVEQLKGKALKNEGKADPSYGILYAYISTLNIDDETTKVVRNRCSSCGYIVNEASNMCT
TCNKNSLDFKSVFLSFHVLIDLTDHTGTLHSCSLTGSVAEETLGCTFVLSHRARSGLKIS
VLSCKLADPTEASRNLSGQKHV
Sequence length 442
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 Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Spermatogenic Failure spermatogenic failure 22 rs1555472691 N/A
Show/Hide Unknown Diseases (1)
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
Male infertility male infertility with azoospermia or oligozoospermia due to single gene mutation N/A N/A GenCC
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 26813108
Azoospermia Associate 28206990, 35172124
Carcinogenesis Associate 26813108
Neoplasms Associate 26813108