LRRC7 (leucine rich repeat containing 7)

Gene

• Entrez ID: 57554
• Gene name: Leucine rich repeat containing 7
• Gene symbol: LRRC7
• Synonyms (NCBI Gene): DENSIN
• Chromosome: 1
• Chromosome location: 1p31.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1120461	hsa-miR-1264	CLIP-seq
MIRT1120462	hsa-miR-1276	CLIP-seq
MIRT1120463	hsa-miR-185	CLIP-seq
MIRT1120464	hsa-miR-2278	CLIP-seq
MIRT1120465	hsa-miR-3115	CLIP-seq
MIRT1120466	hsa-miR-3134	CLIP-seq
MIRT1120467	hsa-miR-3658	CLIP-seq
MIRT1120468	hsa-miR-4306	CLIP-seq
MIRT1120469	hsa-miR-4311	CLIP-seq
MIRT1120470	hsa-miR-4468	CLIP-seq
MIRT1120471	hsa-miR-4534	CLIP-seq
MIRT1120472	hsa-miR-4644	CLIP-seq
MIRT1120473	hsa-miR-4662a-3p	CLIP-seq
MIRT1120474	hsa-miR-4760-3p	CLIP-seq
MIRT1120475	hsa-miR-583	CLIP-seq
MIRT2034129	hsa-miR-218	CLIP-seq
MIRT1120465	hsa-miR-3115	CLIP-seq
MIRT2264475	hsa-miR-3129-3p	CLIP-seq
MIRT2264476	hsa-miR-374c	CLIP-seq
MIRT2264477	hsa-miR-655	CLIP-seq
MIRT1120465	hsa-miR-3115	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	12390249, 28130356
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005912	Component	Adherens junction	IBA
GO:0010976	Process	Positive regulation of neuron projection development	IBA
GO:0014069	Component	Postsynaptic density	IBA
GO:0014069	Component	Postsynaptic density	IEA
GO:0016323	Component	Basolateral plasma membrane	IBA
GO:0019901	Function	Protein kinase binding	IBA
GO:0035580	Component	Specific granule lumen	TAS
GO:0043113	Process	Receptor clustering	IBA
GO:0043194	Component	Axon initial segment	IBA
GO:0045197	Process	Establishment or maintenance of epithelial cell apical/basal polarity	IBA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IBA
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098887	Process	Neurotransmitter receptor transport, endosome to postsynaptic membrane	IBA

Other IDs

• MIM: 614453
• HGNC: 18531
• e!Ensembl: ENSG00000033122

Protein

• UniProt ID: Q96NW7
• Protein name: Leucine-rich repeat-containing protein 7 (Densin-180) (Densin) (Protein LAP1)
• Protein function: Required for normal synaptic spine architecture and function. Necessary for DISC1 and GRM5 localization to postsynaptic density complexes and for both N-methyl D-aspartate receptor-dependent and metabotropic glutamate receptor-dependent long ter
• PDB: 6X5G, 7QQM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13855	LRR_8	138 → 196	Leucine rich repeat	Repeat
  PF00595	PDZ	1448 → 1532	PDZ domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Brain-specific. Isoform 3 is ubiquitously expressed. {ECO:0000269|PubMed:12525888}.
• Sequence:

  MTTKRKIIGRLVPCRCFRGEEEIISVLDYSHCSLQQVPKEVFNFERTLEELYLDANQIEE
  LPKQLFNCQALRKLSIPDNDLSNLPTTIASLVNLKELDISKNGVQEFPENIKCCKCLTII
  EASVNPISKLPDGFTQLLNLTQLYLNDAFLEFLPANFGRLVKLRILELRENHLKTLPKSM
  HKLAQLERLDLGNNEFGELPEVLDQIQNLRELWMDNNALQVLPGSIGKLKMLVYLDMSKN
  RIETVDMDISGCEALEDLLLSSNMLQQLPDSIGLLKKLTTLKVDDNQLTMLPNTIGNLSL
  LEEFDCSCNELESLPSTIGYLHSLRTLAVDENFLPELPREIGSCKNVTVMSLRSNKLEFL
  PEEIGQMQKLRVLNLSDNRLKNLPFSFTKLKELAALWLSDNQSKALIPLQTEAHPETKQR
  VLTNYMFPQQPRGDEDFQSDSDSFNPTLWEEQRQQRMTVAFEFEDKKEDDENAGKVKDLS
  CQAPWERGQRGITLQPARLSGDCCTPWARCDQQIQDMPVPQNDPQLAWGCISGLQQERSM
  CTPLPVAAQSTTLPSLSGRQVEINLKRYPTPYPEDLKNMVKSVQNLVGKPSHGVRVENSN
  PTANTEQTVKEKYEHKWPVAPKEITVEDSFVHPANEMRIGELHPSLAETPLYPPKLVLLG
  KDKKESTDESEVDKTHCLNNSVSSGTYSDYSPSQASSGSSNTRVKVGSLQTTAKDAVHNS
  LWGNRIAPSFPQPLDSKPLLSQREAVPPGNIPQRPDRLPMSDTFTDNWTDGSHYDNTGFV
  AEETTAENANSNPLLSSKSRSTSSHGRRPLIRQDRIVGVPLELEQSTHRHTPETEVPPSN
  PWQNWTRTPSPFEDRTAFPSKLETTPTTSPLPERKEHIKESTEIPSPFSPGVPWEYHDSN
  PNRSLSNVFSQIHCRPESSKGVISISKSTERLSPLMKDIKSNKFKKSQSIDEIDIGTYKV
  YNIPLENYASGSDHLGSHERPDKMLGPEHGMSSMSRSQSVPMLDDEMLTYGSSKGPQQQK
  ASMTKKVYQFDQSFNPQGSVEVKAEKRIPPPFQHNPEYVQQASKNIAKDLISPRAYRGYP
  PMEQMFSFSQPSVNEDAVVNAQFASQGARAGFLRRADSLVSATEMAMFRRVNEPHELPPT
  DRYGRPPYRGGLDRQSSVTVTESQFLKRNGRYEDEHPSYQEVKAQAGSFPVKNLTQRRPL
  SARSYSTESYGASQTRPVSARPTMAALLEKIPSDYNLGNYGDKPSDNSDLKTRPTPVKGE
  ESCGKMPADWRQQLLRHIEARRLDRNAAYKHNTVNLGMLPYGGISAMHAGRSMTLNLQTK
  SKFDHQELPLQKTPSQQSNILDNGQEDVSPSGQWNPYPLGRRDVPPDTITKKAGSHIQTL
  MGSQSLQHRSREQQPYEGNINKVTIQQFQSPLPIQIPSSQATRGPQPGRCLIQTKGQRSM
  DGYPEQFCVRIEKNPGLGFSISGGISGQGNPFKPSDKGIFVTRVQPDGPASNLLQPGDKI
  LQANGHSFVHMEHEKAVLLLKSFQNTVDLVIQRELTV

• Sequence length: 1537

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
BREAST BENIGN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 77	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	27902448		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	27902448		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	25425325		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33078631	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	17968527		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	LHGDN	17968527		★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	19651773, 25425325, 25461922, 26596547		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	31589164		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	22322875	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	GWASCAT_DG	22322875		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25965830		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	24055652, 26596547, 30723199		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	29158550		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	31408437		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	33246498	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	31408437, 31589164		★☆☆☆☆ Found in Text Mining only
X-Linked Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss Muscular Dystrophy, X-Linked	BEFREE	25461922		★☆☆☆☆ Found in Text Mining only