LRRC46 (leucine rich repeat containing 46)

Gene

• Entrez ID: 90506
• Gene name: Leucine rich repeat containing 46
• Gene symbol: LRRC46
• Synonyms (NCBI Gene): -
• Chromosome: 17
• Chromosome location: 17q21.32

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1119660	hsa-miR-1262	CLIP-seq
MIRT1119661	hsa-miR-337-3p	CLIP-seq
MIRT1119662	hsa-miR-4481	CLIP-seq
MIRT1119663	hsa-miR-4701-3p	CLIP-seq
MIRT1119664	hsa-miR-4745-5p	CLIP-seq
MIRT1119665	hsa-miR-4758-5p	CLIP-seq
MIRT1119666	hsa-miR-4765	CLIP-seq
MIRT2033811	hsa-miR-1273g	CLIP-seq
MIRT2033812	hsa-miR-3064-5p	CLIP-seq
MIRT2033813	hsa-miR-3182	CLIP-seq
MIRT2033814	hsa-miR-4257	CLIP-seq
MIRT2033815	hsa-miR-513a-5p	CLIP-seq
MIRT2033816	hsa-miR-604	CLIP-seq
MIRT2033817	hsa-miR-647	CLIP-seq
MIRT2264225	hsa-miR-1253	CLIP-seq
MIRT2264226	hsa-miR-3184	CLIP-seq
MIRT2264227	hsa-miR-423-5p	CLIP-seq
MIRT2264228	hsa-miR-4251	CLIP-seq
MIRT2264229	hsa-miR-4329	CLIP-seq
MIRT2264230	hsa-miR-4688	CLIP-seq
MIRT2264231	hsa-miR-486-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005929	Component	Cilium	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0007286	Process	Spermatid development	IEA
GO:0007288	Process	Sperm axoneme assembly	IEA
GO:0007338	Process	Single fertilization	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0036126	Component	Sperm flagellum	IEA
GO:0036126	Component	Sperm flagellum	ISS
GO:0042995	Component	Cell projection	IEA
GO:0097225	Component	Sperm midpiece	IEA
GO:0098727	Process	Maintenance of cell number	IEA
GO:0120316	Process	Sperm flagellum assembly	IEA
GO:0120316	Process	Sperm flagellum assembly	ISS
GO:0120317	Process	Sperm mitochondrial sheath assembly	IEA

Other IDs

• MIM: 620927
• HGNC: 25047
• e!Ensembl: ENSG00000141294

Protein

• UniProt ID: Q96FV0
• Protein name: Leucine-rich repeat-containing protein 46
• Protein function: Required for normal spermatogenesis and male fertility. Plays an important role in sperm flagellum biogenesis.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13855	LRR_8	44 → 100	Leucine rich repeat	Repeat

• Sequence:

  MSGGKSAQGPEEGGVCITEALITKRNLTFPEDGELSEKMFHTLDELQTVRLDREGITTIR
  NLEGLQNLHSLYLQGNKIQQIENLACIPSLRFLSLAGNQIRQVENLLDLPCLQFLDLSEN
  LIETLKLDEFPQSLLILNLSGNSCTNQDGYRELVTEALPLLLDLDGQPVVERWISDEEDE
  ASSDEEFPELSGPFCSERGFLKELEQELSRHREHRQQTALTEHLLRMEMQPTLTDLPLLP
  GVPMAGDSSPSATPAQGEETVPEAVSSPQASSPTKKPCSLIPRGHQSSFWGRKGARAATA
  PKASVAEAPSTTKTTAKRSKK

• Sequence length: 321

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
OVARIAN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG	31043753		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	31863646	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	31043753		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31043753	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations