LRRC7 Gene (Protein Coding)

Leucine Rich Repeat Containing 7

GC01P069567
GIFtS:
38

Aliases for LRRC7 Gene

Aliases for LRRC7 Gene

  • Leucine Rich Repeat Containing 7 2 3 5
  • Leucine-Rich Repeat-Containing Protein 7 3 4
  • Densin-180 3 4
  • Protein LAP1 4
  • KIAA1365 4
  • DENSIN 3
  • Densin 4
  • LAP1 4

External Ids for LRRC7 Gene

Previous GeneCards Identifiers for LRRC7 Gene

  • GC01P069857
  • GC01P069998
  • GC01P068336

Summaries for LRRC7 Gene

GeneCards Summary for LRRC7 Gene

LRRC7 (Leucine Rich Repeat Containing 7) is a Protein Coding gene. Diseases associated with LRRC7 include Dental Pulp Necrosis and Chromosome 3Q29 Deletion Syndrome. Among its related pathways are Innate Immune System. An important paralog of this gene is ERBIN.

UniProtKB/Swiss-Prot Summary for LRRC7 Gene

  • 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 term depression.

Gene Wiki entry for LRRC7 Gene

Additional gene information for LRRC7 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LRRC7 Gene

Genomics for LRRC7 Gene

GeneHancer (GH) Regulatory Elements for LRRC7 Gene

Promoters and enhancers for LRRC7 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01J069566 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 525.3 +0.3 328 4 EP300 NRF1 USF1 TEAD4 ZBTB26 CTBP1 HDAC2 EZH2 SMC3 ZBTB17 LRRC7 lnc-LRRC40-6 SGO1P1
GH01J069919 Promoter 0.6 EPDnew 500 +351.1 351066 0.1 ZBTB40 ZBTB33 ZFX MGA PIN1P1 lnc-SRSF11-2 LRRC7 piR-61580-031
GH01J069539 Enhancer 1.1 Ensembl ENCODE 22 -28.6 -28646 1.6 PHB2 ZBTB11 AFF1 HES1 MYC TOE1 CTBP1 MIER1 HDAC3 NCOR1 LRRC7 piR-40476-006 ENSG00000287453 LOC105378789
GH01J069609 Enhancer 0.4 Ensembl 22.1 +41.8 41840 0.6 FOS JUN SPI1 STAT3 SGO1P1 lnc-LRRC40-6 LRRC7 piR-51137-001
GH01J069648 Enhancer 0.4 Ensembl 21.4 +80.4 80440 0.6 REST FOXP2 POLR2A ELF1 LRRC7 piR-51137-001 ENSG00000287283
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LRRC7 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LRRC7

Top Transcription factor binding sites by QIAGEN in the LRRC7 gene promoter:
  • c-Rel
  • C/EBPbeta
  • Evi-1
  • HNF-3beta
  • IRF-7A
  • Pbx1a
  • POU2F1
  • POU2F1a
  • Sox5
  • STAT5B

Genomic Locations for LRRC7 Gene

Genomic Locations for LRRC7 Gene
chr1:69,568,261-70,151,945
(GRCh38/hg38)
Size:
583,685 bases
Orientation:
Plus strand
chr1:70,034,081-70,617,628
(GRCh37/hg19)
Size:
583,548 bases
Orientation:
Plus strand

Genomic View for LRRC7 Gene

Genes around LRRC7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRRC7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRRC7 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for LRRC7 Gene

Proteins for LRRC7 Gene

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  • Protein details for LRRC7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96NW7-LRRC7_HUMAN
    Recommended name:
    Leucine-rich repeat-containing protein 7
    Protein Accession:
    Q96NW7
    Secondary Accessions:
    • Q5VXC2
    • Q5VXC3
    • Q68D07
    • Q86VE8
    • Q8WX20
    • Q9P2I2

    Protein attributes for LRRC7 Gene

    Size:
    1537 amino acids
    Molecular mass:
    172581 Da
    Quaternary structure:
    • Interacts with CNKSR2 and DLG4 (By similarity). Interacts with CTNND2/Catenin delta-2. Forms a complex with N-cadherin through CTNND2 (PubMed:11729199). Interacts with CAMK2A (PubMed:28130356).
    SequenceCaution:
    • Sequence=AAP06801.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA92603.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for LRRC7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LRRC7 Gene

Protein Expression for LRRC7 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for LRRC7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LRRC7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LRRC7 Gene

Domains & Families for LRRC7 Gene

Gene Families for LRRC7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for LRRC7 Gene

Blocks:
  • PDZ/DHR/GLGF domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LRRC7 Gene

GenScript: Design optimal peptide antigens:
  • LRRC7 protein (A1L1C6_HUMAN)
  • cDNA FLJ54846, highly similar to Leucine-rich repeat-containing protein 7 (B1AKT2_HUMAN)
  • Protein LAP1 (LRRC7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96NW7

UniProtKB/Swiss-Prot:

LRRC7_HUMAN :
  • Belongs to the LAP (LRR and PDZ) protein family.
Family:
  • Belongs to the LAP (LRR and PDZ) protein family.
genes like me logo Genes that share domains with LRRC7: view

Function for LRRC7 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
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Molecular function for LRRC7 Gene

UniProtKB/Swiss-Prot 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 term depression.

Phenotypes From GWAS Catalog for LRRC7 Gene

Gene Ontology (GO) - Molecular Function for LRRC7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12390249
genes like me logo Genes that share ontologies with LRRC7: view
genes like me logo Genes that share phenotypes with LRRC7: view

Animal Models for LRRC7 Gene

MGI Knock Outs for LRRC7:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for LRRC7 Gene

Localization for LRRC7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LRRC7 Gene

Cytoplasm. Cell junction, synapse, postsynaptic density.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LRRC7 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 5
extracellular 4
nucleus 4
mitochondrion 3
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (2)
  • Centrosome (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LRRC7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005654 nucleoplasm IDA --
GO:0005813 centrosome IDA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with LRRC7: view

Pathways & Interactions for LRRC7 Gene

PathCards logo

SuperPathways for LRRC7 Gene

genes like me logo Genes that share pathways with LRRC7: view

Pathways by source for LRRC7 Gene

3 Reactome pathways for LRRC7 Gene

Interacting Proteins for LRRC7 Gene

Selected Interacting proteins: Q96NW7-LRRC7_HUMAN for LRRC7 Gene via UniProtKB MINT IID

GPS-Prot Interaction Network for LRRC7
;

SIGNOR curated interactions for LRRC7 Gene

Other effect:

Gene Ontology (GO) - Biological Process for LRRC7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0010976 positive regulation of neuron projection development IBA 21873635
GO:0043113 receptor clustering IBA 21873635
GO:0043312 neutrophil degranulation TAS --
GO:0045197 establishment or maintenance of epithelial cell apical/basal polarity IBA 21873635
genes like me logo Genes that share ontologies with LRRC7: view

Drugs & Compounds for LRRC7 Gene

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  1. Drug

(1) Drugs for LRRC7 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for LRRC7 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LRRC7: view

Transcripts for LRRC7 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for LRRC7 Gene

11 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LRRC7 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
SP1: -
SP2: -
SP3: -

ExUns: 26 ^ 27
SP1:
SP2:
SP3:

Relevant External Links for LRRC7 Gene

GeneLoc Exon Structure for
LRRC7

Expression for LRRC7 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LRRC7 Gene

mRNA expression in normal human tissues for LRRC7 Gene
mRNA expression by GTEx for LRRC7 GenemRNA expression by BioGPS for LRRC7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LRRC7 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x7.1), Brain - Putamen (basal ganglia) (x6.2), Brain - Caudate (basal ganglia) (x6.1), Brain - Frontal Cortex (BA9) (x5.0), Brain - Anterior cingulate cortex (BA24) (x5.0), Brain - Hippocampus (x4.5), and Brain - Cortex (x4.1).

Protein differential expression in normal tissues from HIPED for LRRC7 Gene

This gene is overexpressed in Brain (17.2), Synovial fluid (13.2), and Breast (12.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LRRC7 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LRRC7

SOURCE GeneReport for Unigene cluster for LRRC7 Gene:

Hs.479658

mRNA Expression by UniProt/SwissProt for LRRC7 Gene:

Q96NW7-LRRC7_HUMAN
Tissue specificity: Brain-specific. Isoform 3 is ubiquitously expressed.

Evidence on tissue expression from TISSUES for LRRC7 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with LRRC7: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for LRRC7 Gene

Orthologs for LRRC7 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for LRRC7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia LRRC7 31 30
  • 99.89 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia LRRC7 31 30
  • 95.1 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia LRRC7 31 30
  • 94.12 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia LRRC7 31
  • 91 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Lrrc7 17 31 30
  • 90.33 (n)
rat
(Rattus norvegicus)
 Mammalia Lrrc7 30
  • 90.02 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia LRRC7 31
  • 88 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves LRRC7 31 30
  • 81.44 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia LRRC7 31
  • 83 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia lrrc7 30
  • 74.37 (n)
zebrafish
(Danio rerio)
 Actinopterygii lrrc7 31 30
  • 66.15 (n)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta Lap1 31
  • 33 (a)
 OneToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes SOG2 33
Species where no ortholog for LRRC7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LRRC7 Gene

ENSEMBL:
Gene Tree for LRRC7 (if available)
TreeFam:
Gene Tree for LRRC7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LRRC7: view image

Paralogs for LRRC7 Gene

Paralogs for LRRC7 Gene

(7) SIMAP similar genes for LRRC7 Gene using alignment to 8 proteins:

  • LRRC7_HUMAN
  • A1L1C6_HUMAN
  • B1AKT2_HUMAN
  • F8WE45_HUMAN
  • K7ELH5_HUMAN
  • V9GY23_HUMAN
  • V9GYE1_HUMAN
  • V9GZ42_HUMAN
genes like me logo Genes that share paralogs with LRRC7: view

Variants for LRRC7 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LRRC7 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs1135401780 Uncertain Significance: Intellectual disability 70,039,454(+) T/G NONSENSE
VAR_035715 A breast cancer sample p.Leu235Met
rs12069888 - p.His1054Tyr

Additional dbSNP identifiers (rs#s) for LRRC7 Gene

Structural Variations from Database of Genomic Variants (DGV) for LRRC7 Gene

Variant ID Type Subtype PubMed ID
dgv18n27 CNV loss 19166990
dgv305n54 CNV loss 21841781
dgv6e215 CNV deletion 23714750
esv1056018 CNV insertion 17803354
esv1094257 CNV insertion 17803354
esv2617051 CNV deletion 19546169
esv2749586 CNV deletion 23290073
esv3305104 CNV mobile element insertion 20981092
esv3382626 CNV duplication 20981092
esv3383107 CNV insertion 20981092
esv3448225 CNV insertion 20981092
esv3452085 CNV duplication 20981092
esv3586344 CNV loss 21293372
esv3586345 CNV loss 21293372
esv3586346 CNV gain 21293372
esv3586348 CNV gain 21293372
nsv1110662 CNV insertion 24896259
nsv1133864 CNV deletion 24896259
nsv1142060 CNV tandem duplication 24896259
nsv1151258 CNV duplication 26484159
nsv461784 CNV loss 19166990
nsv512742 CNV insertion 21212237
nsv521307 CNV loss 19592680
nsv525370 CNV loss 19592680
nsv526839 CNV gain 19592680
nsv546452 CNV loss 21841781
nsv954734 CNV insertion 24416366

Variation tolerance for LRRC7 Gene

Residual Variation Intolerance Score: 1.08% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.74; 46.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LRRC7 Gene

Human Gene Mutation Database (HGMD)
LRRC7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LRRC7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRRC7 Gene

Disorders for LRRC7 Gene

MalaCards: The human disease database

(5) MalaCards diseases for LRRC7 Gene - From: DISEASES

Disorder Aliases PubMed IDs
dental pulp necrosis
  • necrosis of the pulp
chromosome 3q29 deletion syndrome
  • microdeletion 3q29 syndrome
hypomelanosis of ito
  • hmi
cri-du-chat syndrome
  • cat cry syndrome
kbg syndrome
  • kbgs
- elite association - COSMIC cancer census association via MalaCards
Search LRRC7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for LRRC7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with LRRC7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LRRC7 Gene

Publications for LRRC7 Gene

  1. Cloning and characterization of a novel splice variant of the brain-specific protein densin-180. (PMID: 12525888) Wang L … Mao Y (International journal of molecular medicine 2003) 2 3 4 23 54
  2. Association analysis of podocyte slit diaphragm genes as candidates for diabetic nephropathy. (PMID: 17968527) Ihalmo P … FinnDiane Study Group (Diabetologia 2008) 3 23 41 54
  3. A Novel Human CAMK2A Mutation Disrupts Dendritic Morphology and Synaptic Transmission, and Causes ASD-Related Behaviors. (PMID: 28130356) Stephenson JR … Colbran RJ (The Journal of neuroscience : the official journal of the Society for Neuroscience 2017) 3 4 54
  4. Genetic association of short sleep duration with hypertension incidence--a 6-year follow-up in the Korean genome and epidemiology study. (PMID: 22322875) Kim SJ … Shin C (Circulation journal : official journal of the Japanese Circulation Society 2012) 3 41 54
  5. Genome-wide association study of the child behavior checklist dysregulation profile. (PMID: 21784300) Mick E … Faraone SV (Journal of the American Academy of Child and Adolescent Psychiatry 2011) 3 41 54

ExternalLinks

View latest publications for LRRC7 gene in Mastermind

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