LRGUK (leucine rich repeats and guanylate kinase domain containing)

Gene

• Entrez ID: 136332
• Gene name: Leucine rich repeats and guanylate kinase domain containing
• Gene symbol: LRGUK
• Synonyms (NCBI Gene): CFAP246
• Chromosome: 7
• Chromosome location: 7q33

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2263531	hsa-miR-1324	CLIP-seq
MIRT2263532	hsa-miR-302a	CLIP-seq
MIRT2263533	hsa-miR-302b	CLIP-seq
MIRT2263534	hsa-miR-302c	CLIP-seq
MIRT2263535	hsa-miR-302d	CLIP-seq
MIRT2263536	hsa-miR-302e	CLIP-seq
MIRT2263537	hsa-miR-372	CLIP-seq
MIRT2263538	hsa-miR-373	CLIP-seq
MIRT2263539	hsa-miR-383	CLIP-seq
MIRT2263540	hsa-miR-3913-3p	CLIP-seq
MIRT2263541	hsa-miR-520a-3p	CLIP-seq
MIRT2263542	hsa-miR-520b	CLIP-seq
MIRT2263543	hsa-miR-520c-3p	CLIP-seq
MIRT2263544	hsa-miR-520d-3p	CLIP-seq
MIRT2263545	hsa-miR-520e	CLIP-seq
MIRT2562853	hsa-miR-1226	CLIP-seq
MIRT2562854	hsa-miR-186	CLIP-seq
MIRT2562855	hsa-miR-4457	CLIP-seq
MIRT2562856	hsa-miR-513b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0001669	Component	Acrosomal vesicle	ISS
GO:0002177	Component	Manchette	ISS
GO:0004385	Function	GMP kinase activity	IBA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005856	Component	Cytoskeleton	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0035082	Process	Axoneme assembly	ISS
GO:0042995	Component	Cell projection	IEA
GO:0046037	Process	GMP metabolic process	IEA
GO:0046710	Process	GDP metabolic process	IEA

Other IDs

• MIM: 616478
• HGNC: 21964
• e!Ensembl: ENSG00000155530

Protein

• UniProt ID: Q96M69
• Protein name: Leucine-rich repeat and guanylate kinase domain-containing protein
• Protein function: Involved in multiple aspects of sperm assembly including acrosome attachment, shaping of the sperm head and in the early aspects of axoneme development. Not essential for primary cilium biogenesis.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12799	LRR_4	260 → 300	Leucine Rich repeats (2 copies)	Repeat
  PF00625	Guanylate_kin	414 → 599	Guanylate kinase	Domain

• Sequence:

  MATSERALLRTRAASLLRGLGRSRTGARSLQFRAEKERQPCWSFPMGQKTKGSSNIASSY
  LLQQLMHRYQELDSDGDEDQGEGEAGSEESSESEMLNLEEEFDGVLREEAVAKALHHLGR
  SGSGTEQVYLNLTLSGCNLIDVSILCGYVHLQKLDLSANKIEDLSCVSCMPYLLELNASQ
  NNLTTFFNFKPPKNLKKADFSHNQISEICDLSAYHALTKLILDGNEIEEISGLEMCNNLI
  HLSLANNKITTINGLNKLPIKILCLSNNQIEMITGLEDLKALQNLDLSHNQISSLQGLEN
  HDLLEVINLEDNKIAELREIEYIKNLPILRVLNLLENPIQEKSEYWFFVIFMLLRLTELD
  QKKIKVEEKVSAVNKYDPPPEVVAAQDHLTHVVNSVMQPQRIFDSTLPSLDAPYPMLILA
  GPEACGKRELAHRLCRQFSTYFRYGACHTTRPPYFGEGDRVDYHFISQDVFDEMVNMGKF
  ILTFSYGNHKYGLNRDTVEGIARDGLASCIHMEIEGVRSLKYSYFEPRYILVVPMNKEKY
  EGYLRRKGLFSRAEIEFAVSRVDLYIKINQNFPGYFDEVINADDLDVAYQKLSQLIREYL
  GLTEEPAKSLATTADVKTSHLKPEAHPTKYISSNMGDFLHSTDRNYLIKFWAKLSAKKTP
  AERDSIHRQHEAARQALMGRIRPDHTLLFQRGPVPAPLTSGLHYYTTLEELWKSFDLCED
  YFKPPFGPYPEKSGKDSLVSMKCSLFRFCPWSKELPFQPPEGSISSHLGSGASDSETEET
  RKALPIQSFSHEKESHQHRQHSVPVISRPGSNVKPTLPPIPQGRR

• Sequence length: 825

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
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Diabetes Mellitus Type 2	Associate	18498660	★☆☆☆☆ Found in Text Mining only