LRRC49 (leucine rich repeat containing 49)

Gene

• Entrez ID: 54839
• Gene name: Leucine rich repeat containing 49
• Gene symbol: LRRC49
• Synonyms (NCBI Gene): CSTPP2, PGs4
• Chromosome: 15
• Chromosome location: 15q23

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1119753	hsa-miR-330-3p	CLIP-seq
MIRT1119754	hsa-miR-4690-5p	CLIP-seq
MIRT1119755	hsa-miR-1976	CLIP-seq
MIRT1119756	hsa-miR-3124-3p	CLIP-seq
MIRT1119757	hsa-miR-3160-5p	CLIP-seq
MIRT1119758	hsa-miR-3667-3p	CLIP-seq
MIRT1119759	hsa-miR-370	CLIP-seq
MIRT1119760	hsa-miR-4279	CLIP-seq
MIRT2563376	hsa-miR-133a	CLIP-seq
MIRT2563377	hsa-miR-133b	CLIP-seq
MIRT1119755	hsa-miR-1976	CLIP-seq
MIRT1119756	hsa-miR-3124-3p	CLIP-seq
MIRT1119757	hsa-miR-3160-5p	CLIP-seq
MIRT1119758	hsa-miR-3667-3p	CLIP-seq
MIRT1119759	hsa-miR-370	CLIP-seq
MIRT2563378	hsa-miR-3921	CLIP-seq
MIRT1119760	hsa-miR-4279	CLIP-seq
MIRT2563379	hsa-miR-4438	CLIP-seq
MIRT2563380	hsa-miR-452	CLIP-seq
MIRT2563381	hsa-miR-4653-5p	CLIP-seq
MIRT2563382	hsa-miR-4676-3p	CLIP-seq
MIRT2563383	hsa-miR-4742-5p	CLIP-seq
MIRT2563384	hsa-miR-4766-5p	CLIP-seq
MIRT2563385	hsa-miR-500a	CLIP-seq
MIRT2563386	hsa-miR-5095	CLIP-seq
MIRT2563387	hsa-miR-548a-3p	CLIP-seq
MIRT2563388	hsa-miR-548e	CLIP-seq
MIRT2563389	hsa-miR-548f	CLIP-seq
MIRT2563390	hsa-miR-548g	CLIP-seq
MIRT2563391	hsa-miR-570	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IDA	34782749
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0034451	Component	Centriolar satellite	IDA	26638075
GO:0034451	Component	Centriolar satellite	IEA
GO:0046785	Process	Microtubule polymerization	IDA	10791892, 34782749
GO:0061523	Process	Cilium disassembly	IDA	34782749

Other IDs

• MIM: 620497
• HGNC: 25965
• e!Ensembl: ENSG00000137821

Protein

• UniProt ID: Q8IUZ0
• Protein name: Leucine-rich repeat-containing protein 49 (Centriolar satellite-associated tubulin polyglutamylase complex regulator 2) (Tubulin polyglutamylase complex subunit 4) (PGs4)
• Protein function: Subunit of the tubulin polyglutamylase complex (TPGC). The complex mediates cilia and flagella polyglutamylation which is essential for their biogenesis and motility.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12799	LRR_4	156 → 198	Leucine Rich repeats (2 copies)	Repeat
  PF14580	LRR_9	175 → 330		Repeat

• Sequence:

  MIPGKYRSVSGRAANNVNCGLHLVIQTSSLPEKNKVEFKLNKDTSSFPGRLLQHDLERNY
  SSRQGDHINLVSSSLSSFPILQRSSEEKILYSDRLSLERQKLTVCPIINGEDHLRLLNFQ
  HNFITRIQNISNLQKLISLDLYDNQIEEISGLSTLRCLRVLLLGKNRIKKISNLENLKSL
  DVLDLHGNQITKIENINHLCELRVLNLARNFLSHVDNLNGLDSLTELNLRHNQITFVRDV
  DNLPCLQHLFLSFNNISSFDSVSCLADSSSLSDITFDGNPIAQESWYKHTVLQNMMQLRQ
  LDMKRITEEERRMASVLAKKEEEKKRESHKQSLLKEKKRLTINNVARQWDLQQQRVANIA
  TNEDRKDSDSPQDPCQIDGSTLSAFPEETGPLDSGLNNALQGLSVIDTYLVEVDGDTLSL
  YGSGALESLDRNWSVQTAGMITTVSFTFIEFDEIVQVLPKLKIKFPNSLHLKFKETNLVM
  LQQFNALAQLRRIDQLTIDPQGNPVVNFTLWKYYVLFRLSHFSMQKINGTEVTQNDMIMA
  ERLFGILAHVASSELPQYRLISILGDARKKQFRYLLESKGKKPGIINEENNDSKRLVGEN
  TNRATLNYTTRDFYNEKLEEIKEKKKFCKTYIEDLVKEATEINMKNEALQKLWPQMFIEL
  VRDAVIEIRNKNSYMKLCLQQITDQK

• Sequence length: 686

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
SINUSITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	BEFREE	18575747		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18575747		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	18575747		★☆☆☆☆ Found in Text Mining only