Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	57554
Gene name Gene Name - the full gene name approved by the HGNC.	Leucine rich repeat containing 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	LRRC7
Synonyms (NCBI Gene) Gene synonyms aliases	DENSIN
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p31.1

Show/Hide all(21)

miRTarBase ID	miRNA	Experiments
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

Show/Hide all(19)

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

MIM	HGNC	e!Ensembl
614453	18531	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

Interactions

View interactions

Show/Hide Unknown Diseases (5)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Attention Deficit Hyperactivity Disorder	Attention deficit hyperactivity disorder	N/A	N/A	GWAS
Coronary Heart Disease	Coronary heart disease	N/A	N/A	GWAS
Hypertension	Hypertension risk in short sleep duration	N/A	N/A	GWAS
Mental retardation	intellectual disability	N/A	N/A	ClinVar
Neurodevelopmental Disorders	neurodevelopmental disorder	N/A	N/A	GenCC

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Colorectal Neoplasms	Associate	33078631
Hypertension	Associate	22322875
Respiratory Distress Syndrome	Associate	26077880
Schizophrenia	Associate	33246498

LRRC7 (leucine rich repeat containing 7)