LRRN4 leucine rich repeat neuronal 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LRRN4provided by HGNC
Official Full Name: leucine rich repeat neuronal 4provided by HGNC
Primary source: HGNC:HGNC:16208
See related: Ensembl:ENSG00000125872 MIM:619706; AllianceGenome:HGNC:16208
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NLRR4; NLRR-4; C20orf75; dJ1056H1.1
Summary: Predicted to be involved in long-term memory. Predicted to act upstream of or within visual learning. Located in extracellular exosome. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Biased expression in lung (RPKM 6.4) and kidney (RPKM 1.0) See more
Orthologs: mouse all
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Genomic context

Location:: 20p12.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (6040546..6054060, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (6080866..6094379, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (6021192..6034706, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LRRN4 was only detected in primary mesothelial cells, but MSLN and UPK3B were also detected in other cell types.
Title: LRRN4 and UPK3B are markers of primary mesothelial cells.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Loci at chromosomes 13, 19 and 20 influence age at natural menopause. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in long-term memory	IBA Inferred from Biological aspect of Ancestor more info
involved_in visual learning	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: leucine-rich repeat neuronal protein 4

Names: neuronal leucine-rich repeat protein 4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_152611.5 → NP_689824.2 leucine-rich repeat neuronal protein 4 precursor

See identical proteins and their annotated locations for NP_689824.2

Status: VALIDATED

Source sequence(s)

AA464555, AK290123, BC027720, BP252017

Consensus CDS

CCDS13097.1

UniProtKB/Swiss-Prot

A8K258, Q5JWV6, Q8WUT4, Q9H419

Related

ENSP00000368135.4, ENST00000378858.5

Conserved Domains (6) summary

PHA03255
Location:313 → 491

PHA03255; BDLF3; Provisional

COG4886
Location:224 → 311

LRR; Leucine-rich repeat (LRR) protein [Transcription]

cd00063
Location:580 → 676

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cd00116
Location:69 → 213

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00033
Location:77 → 100

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:123 → 178

LRR_8; Leucine rich repeat