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LRIG2 leucine rich repeats and immunoglobulin like domains 2 [ Homo sapiens (human) ]

Gene ID: 9860, updated on 3-May-2020

Summary

Official Symbol
LRIG2provided by HGNC
Official Full Name
leucine rich repeats and immunoglobulin like domains 2provided by HGNC
Primary source
HGNC:HGNC:20889
See related
Ensembl:ENSG00000198799 MIM:608869
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
Also known as
LIG2; UFS2; LIG-2
Summary
This gene encodes a transmembrane protein containing leucine-rich repeats and immunoglobulin-like domains. The encoded protein promotes epidermal growth factor signalling, resulting in increased proliferation. Its expression in the cytoplasm of glioma cells is correlated with poor survival. Mutations in this gene can cause urofacial syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
Expression
Ubiquitous expression in thyroid (RPKM 2.7), ovary (RPKM 2.5) and 25 other tissues See more
Orthologs

Genomic context

See LRIG2 in Genome Data Viewer
Location:
1p13.2
Exon count:
21
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (113073170..113132260)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (113615792..113667824)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs1672 Neighboring gene LRIG2 divergent transcript Neighboring gene Sharpr-MPRA regulatory region 391 Neighboring gene ring finger protein, LIM domain interacting pseudogene 2 Neighboring gene CRISPRi-validated cis-regulatory element chr1.7885 Neighboring gene ribosomal protein S19 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0806, DKFZp451C181

Gene Ontology Provided by GOA

Function Evidence Code Pubs
signaling receptor binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
innervation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of axon regeneration IEA
Inferred from Electronic Annotation
more info
 
negative regulation of membrane protein ectodomain proteolysis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein localization to cell surface IEA
Inferred from Electronic Annotation
more info
 
regulation of neuron migration IEA
Inferred from Electronic Annotation
more info
 
regulation of platelet-derived growth factor receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
growth cone IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular vesicle IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
leucine-rich repeats and immunoglobulin-like domains protein 2

NCBI Reference Sequences (RefSeq)

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

  1. NG_042819.1 RefSeqGene

    Range
    5001..57033
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001312686.2NP_001299615.1  leucine-rich repeats and immunoglobulin-like domains protein 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the 5' region and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AB018349, AL357055, CR936669, DA506094
    UniProtKB/Swiss-Prot
    O94898
    Conserved Domains (7) summary
    cd05763
    Location:516590
    Ig_1; Subgroup of the immunoglobulin (Ig) superfamily
    TIGR00864
    Location:313390
    PCC; polycystin cation channel protein
    COG4886
    Location:46342
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    pfam07679
    Location:593680
    I-set; Immunoglobulin I-set domain
    sd00031
    Location:1942
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:4365
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13927
    Location:394481
    Ig_3; Immunoglobulin domain
  2. NM_014813.3NP_055628.1  leucine-rich repeats and immunoglobulin-like domains protein 2 isoform 1 precursor

    See identical proteins and their annotated locations for NP_055628.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK291031, AL357055, CR936669
    Consensus CDS
    CCDS30808.1
    UniProtKB/Swiss-Prot
    O94898
    Related
    ENSP00000355396.4, ENST00000361127.6
    Conserved Domains (9) summary
    cd05763
    Location:619693
    Ig_1; Subgroup of the immunoglobulin (Ig) superfamily
    smart00082
    Location:445493
    LRRCT; Leucine rich repeat C-terminal domain
    smart00409
    Location:504598
    IG; Immunoglobulin
    cd00116
    Location:46205
    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 ...
    pfam07679
    Location:602692
    I-set; Immunoglobulin I-set domain
    sd00031
    Location:122145
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:146168
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:312371
    LRR_8; Leucine rich repeat
    cl11960
    Location:714783
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    113073170..113132260
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005271369.2XP_005271426.1  leucine-rich repeats and immunoglobulin-like domains protein 2 isoform X2

    Conserved Domains (8) summary
    cd05763
    Location:512586
    Ig_1; Subgroup of the immunoglobulin (Ig) superfamily
    smart00082
    Location:445492
    LRRCT; Leucine rich repeat C-terminal domain
    cd00116
    Location:46205
    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 ...
    pfam07679
    Location:495585
    I-set; Immunoglobulin I-set domain
    sd00031
    Location:122145
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:146168
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:312371
    LRR_8; Leucine rich repeat
    cl11960
    Location:607676
    Ig; Immunoglobulin domain
  2. XM_017002952.2XP_016858441.1  leucine-rich repeats and immunoglobulin-like domains protein 2 isoform X3

    Conserved Domains (3) summary
    cd05763
    Location:107181
    Ig_1; Subgroup of the immunoglobulin (Ig) superfamily
    pfam07679
    Location:184271
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:286
    Ig; Immunoglobulin domain
  3. XM_024451227.1XP_024306995.1  leucine-rich repeats and immunoglobulin-like domains protein 2 isoform X1

    Conserved Domains (7) summary
    cd05763
    Location:516590
    Ig_1; Subgroup of the immunoglobulin (Ig) superfamily
    TIGR00864
    Location:313390
    PCC; polycystin cation channel protein
    COG4886
    Location:46342
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    pfam07679
    Location:593680
    I-set; Immunoglobulin I-set domain
    sd00031
    Location:1942
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:4365
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13927
    Location:394481
    Ig_3; Immunoglobulin domain
  4. XM_024451231.1XP_024306999.1  leucine-rich repeats and immunoglobulin-like domains protein 2 isoform X3

    Conserved Domains (3) summary
    cd05763
    Location:107181
    Ig_1; Subgroup of the immunoglobulin (Ig) superfamily
    pfam07679
    Location:184271
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:286
    Ig; Immunoglobulin domain
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