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LRIT2 leucine rich repeat, Ig-like and transmembrane domains 2 [ Homo sapiens (human) ]

Gene ID: 340745, updated on 5-Mar-2024

Summary

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Official Symbol
LRIT2provided by HGNC
Official Full Name
leucine rich repeat, Ig-like and transmembrane domains 2provided by HGNC
Primary source
HGNC:HGNC:23443
See related
Ensembl:ENSG00000204033 AllianceGenome:HGNC:23443
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
LRRC22
Summary
Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in skin (RPKM 1.2), brain (RPKM 0.4) and 1 other tissue See more
Orthologs
mouse all
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Genomic context

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Location:
10q23.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (84220485..84225589, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (85099011..85104115, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (85980241..85985345, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:85936583-85937084 Neighboring gene G protein-coupled receptor 15 ligand Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:85939583-85940403 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2550 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2551 Neighboring gene cadherin related family member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:85963048-85963548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:85963549-85964049 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:85974015-85974538 Neighboring gene leucine rich repeat, Ig-like and transmembrane domains 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:86004955-86005454 Neighboring gene retinal G protein coupled receptor

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. New genetic associations detected in a host response study to hepatitis B vaccine. Davila S, et al. Genes Immun, 2010 Apr. PMID 20237496
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: New genetic associations detected in a host response study to hepatitis B vaccine.
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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 2
Names
leucine rich repeat containing 22
leucine-rich repeat, immunoglobulin-like and transmembrane domains 2
leucine-rich repeat-containing protein 22

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)

  1. NM_001017924.5 → NP_001017924.1  leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 2 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001017924.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    BC140765, BX648524
    Consensus CDS
    CCDS31234.1
    UniProtKB/Swiss-Prot
    A6NDA9, B7ZME6
    Related
    ENSP00000361185.3, ENST00000372113.7
    Conserved Domains (9) summary
    smart00408
    Location:267 → 334
    IGc2; Immunoglobulin C-2 Type
    smart00060
    Location:367 → 430
    FN3; Fibronectin type 3 domain
    cd00116
    Location:75 → 164
    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:253 → 344
    I-set; Immunoglobulin I-set domain
    sd00031
    Location:58 → 80
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:37 → 55
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:81 → 119
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:103 → 163
    LRR_8; Leucine rich repeat
    cl15307
    Location:200 → 243
    TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain

  2. NM_001284223.1 → NP_001271152.1  leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 2 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001271152.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC022389, BC140765, BX648524
    Consensus CDS
    CCDS60581.1
    UniProtKB/Swiss-Prot
    A6NDA9
    Related
    ENSP00000438264.1, ENST00000538192.5
    Conserved Domains (9) summary
    smart00408
    Location:267 → 344
    IGc2; Immunoglobulin C-2 Type
    smart00060
    Location:377 → 440
    FN3; Fibronectin type 3 domain
    cd00116
    Location:75 → 164
    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:253 → 354
    I-set; Immunoglobulin I-set domain
    sd00031
    Location:58 → 80
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:37 → 55
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:81 → 119
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:103 → 163
    LRR_8; Leucine rich repeat
    cl15307
    Location:200 → 243
    TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain

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

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    84220485..84225589 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    85099011..85104115 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A6NDA9.1 GenPept UniProtKB/Swiss-Prot:A6NDA9

Gene LinkOut

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