LRRC2 leucine rich repeat containing 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LRRC2provided by HGNC
Official Full Name: leucine rich repeat containing 2provided by HGNC
Primary source: HGNC:HGNC:14676
See related: Ensembl:ENSG00000163827 MIM:607180; AllianceGenome:HGNC:14676
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This gene encodes a member of the leucine-rich repeat-containing family of proteins, which function in diverse biological pathways. This family member may possibly be a nuclear protein. Similarity to the RAS suppressor protein, as well as expression down-regulation observed in tumor cells, suggests that it may function as a tumor suppressor. The gene is located in the chromosome 3 common eliminated region 1 (C3CER1), a 1.4 Mb region that is commonly deleted in diverse tumors. A related pseudogene has been identified on chromosome 2. [provided by RefSeq, Sep 2011]
Expression: Biased expression in heart (RPKM 15.6), thyroid (RPKM 11.1) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p21.31

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (46515385..46566302, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (46531490..46582384, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (46556875..46607792, complement)

Chromosome 3 - NC_000003.12 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
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?

Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of leucine rich repeat containing 2 (LRRC2) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S275 (e-PCR)
- UniSTS:147992

L17705 (e-PCR)
- UniSTS:66091

D8S2279 (e-PCR)
- UniSTS:473907

D10S16 (e-PCR)
- UniSTS:155756

LRRC2__6428 (e-PCR)
- UniSTS:471480

WI-15076 (e-PCR)
- UniSTS:20960

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: leucine-rich repeat-containing protein 2

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.

Genomic

NG_021214.1 RefSeqGene

Range

18781..69698

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_024512.5 → NP_078788.2 leucine-rich repeat-containing protein 2

See identical proteins and their annotated locations for NP_078788.2

Status: REVIEWED

Source sequence(s)

AC098613, AJ308569, AK057808, BP420656

Consensus CDS

CCDS2741.1

UniProtKB/Swiss-Prot

B2RDQ7, Q96LT5, Q9BYS8

UniProtKB/TrEMBL

B2RBH0, Q53F49

Related

ENSP00000379241.3, ENST00000395905.8

Conserved Domains (3) summary

sd00033
Location:123 → 145

LRR_RI; leucine-rich repeat [structural motif]

pfam12799
Location:167 → 201

LRR_4; Leucine Rich repeats (2 copies)

pfam13855
Location:237 → 295

LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

46515385..46566302 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

46531490..46582384 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_024750.3: Suppressed sequence

Description

NM_024750.3: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate due to the presence of an upstream ORF with a strong Kozak signal.