LRRC23 (leucine rich repeat containing 23)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10233
Gene name Gene Name - the full gene name approved by the HGNC.
Leucine rich repeat containing 23
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LRRC23
Synonyms (NCBI Gene) Gene synonyms aliases
LRPB7, SPGF92
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p13.31
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(16)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183, 37804054, 38091523
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA 31429579
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
620708 19138 ENSG00000010626
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q53EV4
Protein name Leucine-rich repeat-containing protein 23 (Leucine-rich protein B7)
Protein function Essential for sperm motility and male fertility. Plays an important role in the proper assembly of the third radial spoke (RS3) head and the bridge structure between RS2 and RS3 in the sperm flagella. {ECO:0000269|PubMed:37804054, ECO:0000269|Pu
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14580 LRR_9 179 → 329 Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed in spermatozoa. {ECO:0000269|PubMed:37804054, ECO:0000269|PubMed:38091523}.
Sequence 
MSDEDDLEDSEPDQDDSEKEEDEKETEEGEDYRKEGEEFPEEWLPTPLTEDMMKEGLSLL
CKTGNGLAHAYVKLEVKERDLTDIYLLRSYIHLRYVDISENHLTDLSPLNYLTHLLWLKA
DGNRLRSAQMNELPYLQIASFAYNQITDTEGISHPRLETLNLKGNSIHMVTGLDPEKLIS
LHTVELRGNQLESTLGINLPKLKNLYLAQNMLKKVEGLEDLSNLTTLHLRDNQIDTLSGF
SREMKSLQYLNLRGNMVANLGELAKLRDLPKLRALVLLDNPCTDETSYRQEALVQMPYLE
RLDKEFYEEEERAEADVIRQRLKEEKEQEPEPQRDLEPEQSLI
Sequence length 343
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 Gene ontology Other IDs Protein Associated diseases
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
Hyperopia Hyperopia N/A N/A GWAS
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Asthma Associate 32828590