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    LRTM2 leucine rich repeats and transmembrane domains 2 [ Homo sapiens (human) ]

    Gene ID: 654429, updated on 27-Nov-2024

    Summary

    Official Symbol
    LRTM2provided by HGNC
    Official Full Name
    leucine rich repeats and transmembrane domains 2provided by HGNC
    Primary source
    HGNC:HGNC:32443
    See related
    Ensembl:ENSG00000166159 AllianceGenome:HGNC:32443
    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
    Summary
    Predicted to enable Roundabout binding activity and heparin binding activity. Predicted to be involved in axon guidance and negative chemotaxis. Predicted to act upstream of or within positive regulation of synapse assembly. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward brain (RPKM 3.3) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See LRTM2 in Genome Data Viewer
    Location:
    12p13.33
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (1820565..1836753)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (1816705..1832896)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (1929731..1945919)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene calcium voltage-gated channel auxiliary subunit alpha2delta 4 Neighboring gene uncharacterized LOC105369602 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:1913659-1914581 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5812 Neighboring gene uncharacterized LOC105369601 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:1929301-1930047 Neighboring gene Sharpr-MPRA regulatory region 2999 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:1937325-1937864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:1939727-1940340 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:1944610-1945110 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:1953159-1954115 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:1979781-1980282 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:1980283-1980782 Neighboring gene lysosomal associated membrane protein 1 pseudogene 1 Neighboring gene uncharacterized LOC124902858

    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

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide association study of behavioral disinhibition.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    leucine-rich repeat and transmembrane domain-containing protein 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001039029.3NP_001034118.1  leucine-rich repeat and transmembrane domain-containing protein 2 precursor

      See identical proteins and their annotated locations for NP_001034118.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript. Variants 1-3 encode the same protein.
      Source sequence(s)
      AC005343, AK095610, BC036868, BX115405, DA336140, DA418133
      Consensus CDS
      CCDS31726.1
      UniProtKB/Swiss-Prot
      A7E2U6, Q8N967
      Related
      ENSP00000299194.1, ENST00000299194.6
      Conserved Domains (6) summary
      TIGR00864
      Location:174261
      PCC; polycystin cation channel protein
      smart00013
      Location:3970
      LRRNT; Leucine rich repeat N-terminal domain
      sd00033
      Location:5172
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:92152
      LRR_8; Leucine rich repeat
      cl26018
      Location:57202
      NEL; C-terminal novel E3 ligase, LRR-interacting
      cl27544
      Location:265335
      Herpes_glycop_D; Herpesvirus glycoprotein D/GG/GX domain
    2. NM_001163925.2NP_001157397.1  leucine-rich repeat and transmembrane domain-containing protein 2 precursor

      See identical proteins and their annotated locations for NP_001157397.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1-3 encode the same protein.
      Source sequence(s)
      AC005343, AK095610, AK124687, BC036868, BX115405, DA336140
      Consensus CDS
      CCDS31726.1
      UniProtKB/Swiss-Prot
      A7E2U6, Q8N967
      Related
      ENSP00000446278.1, ENST00000543818.5
      Conserved Domains (6) summary
      TIGR00864
      Location:174261
      PCC; polycystin cation channel protein
      smart00013
      Location:3970
      LRRNT; Leucine rich repeat N-terminal domain
      sd00033
      Location:5172
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:92152
      LRR_8; Leucine rich repeat
      cl26018
      Location:57202
      NEL; C-terminal novel E3 ligase, LRR-interacting
      cl27544
      Location:265335
      Herpes_glycop_D; Herpesvirus glycoprotein D/GG/GX domain
    3. NM_001163926.2NP_001157398.1  leucine-rich repeat and transmembrane domain-containing protein 2 precursor

      See identical proteins and their annotated locations for NP_001157398.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1-3 encode the same protein.
      Source sequence(s)
      AC005343, AK095610, BC146894, BX115405, DA336140
      Consensus CDS
      CCDS31726.1
      UniProtKB/Swiss-Prot
      A7E2U6, Q8N967
      Related
      ENSP00000444737.1, ENST00000535041.5
      Conserved Domains (6) summary
      TIGR00864
      Location:174261
      PCC; polycystin cation channel protein
      smart00013
      Location:3970
      LRRNT; Leucine rich repeat N-terminal domain
      sd00033
      Location:5172
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:92152
      LRR_8; Leucine rich repeat
      cl26018
      Location:57202
      NEL; C-terminal novel E3 ligase, LRR-interacting
      cl27544
      Location:265335
      Herpes_glycop_D; Herpesvirus glycoprotein D/GG/GX domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      1820565..1836753
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429421.1XP_047285377.1  leucine-rich repeat and transmembrane domain-containing protein 2 isoform X1

    2. XM_011521015.2XP_011519317.1  leucine-rich repeat and transmembrane domain-containing protein 2 isoform X2

      See identical proteins and their annotated locations for XP_011519317.1

      UniProtKB/Swiss-Prot
      A7E2U6, Q8N967
      Conserved Domains (6) summary
      TIGR00864
      Location:174261
      PCC; polycystin cation channel protein
      smart00013
      Location:3970
      LRRNT; Leucine rich repeat N-terminal domain
      sd00033
      Location:5172
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:92152
      LRR_8; Leucine rich repeat
      cl26018
      Location:57202
      NEL; C-terminal novel E3 ligase, LRR-interacting
      cl27544
      Location:265335
      Herpes_glycop_D; Herpesvirus glycoprotein D/GG/GX domain

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654718.1 Reference GRCh38.p14 PATCHES

      Range
      162709..178897
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332284.1XP_054188259.1  leucine-rich repeat and transmembrane domain-containing protein 2 isoform X1

    2. XM_054332285.1XP_054188260.1  leucine-rich repeat and transmembrane domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A7E2U6, Q8N967

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      1816705..1832896
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373008.1XP_054228983.1  leucine-rich repeat and transmembrane domain-containing protein 2 isoform X1

    2. XM_054373009.1XP_054228984.1  leucine-rich repeat and transmembrane domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A7E2U6, Q8N967