LRRC23 (leucine rich repeat containing 23)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 10233
Gene name Leucine rich repeat containing 23
Gene symbol LRRC23
Synonyms (NCBI Gene)
LRPB7SPGF92
Chromosome 12
Chromosome location 12p13.31
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
620708 19138 ENSG00000010626
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Gene 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
Spermatogenic failure 92 Pathogenic rs1289377349, rs1555139812 RCV004560366
RCV004560367
Show/Hide Text Mining Associations (1)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Asthma Associate 32828590