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    LSMEM2 leucine rich single-pass membrane protein 2 [ Homo sapiens (human) ]

    Gene ID: 132228, updated on 27-Nov-2024

    Summary

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    Official Symbol
    LSMEM2provided by HGNC
    Official Full Name
    leucine rich single-pass membrane protein 2provided by HGNC
    Primary source
    HGNC:HGNC:26781
    See related
    Ensembl:ENSG00000179564 AllianceGenome:HGNC:26781
    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
    C3orf45
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in heart (RPKM 6.3), prostate (RPKM 1.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LSMEM2 in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (50277907..50288114)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (50307257..50317471)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (50316518..50325545)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene SEMA3B antisense RNA 1 (head to head) Neighboring gene semaphorin 3B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19897 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50310784-50311307 Neighboring gene microRNA 6872 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14390 Neighboring gene interferon related developmental regulator 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50330739-50331294 Neighboring gene hyaluronidase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19899 Neighboring gene N-alpha-acetyltransferase 80, NatH catalytic subunit Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50340489-50341423 Neighboring gene hyaluronidase 1

    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. Systematic proteomics of endogenous human cohesin reveals an interaction with diverse splicing factors and RNA-binding proteins required for mitotic progression. Kim JS, et al. J Biol Chem, 2019 May 31. PMID 31010829, Free PMC Article
    2. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. Oláh J, et al. J Biol Chem, 2011 Sep 30. PMID 21832049, Free PMC Article
    3. The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. Capalbo L, et al. Nat Commun, 2019 Oct 4. PMID 31586073, Free PMC Article
    4. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ38608

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 single-pass membrane protein 2

    NCBI Reference Sequences (RefSeq)

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    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_001304385.2 → NP_001291314.1  leucine-rich single-pass membrane protein 2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      BC028000, DA830939, U90094
      UniProtKB/Swiss-Prot
      Q8N112
      Conserved Domains (1) summary
      pfam15833
      Location:13 → 161
      DUF4714; Domain of unknown function (DUF4714)

    2. NM_153215.3 → NP_694947.1  leucine-rich single-pass membrane protein 2 isoform 1

      See identical proteins and their annotated locations for NP_694947.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC028000, U90094
      Consensus CDS
      CCDS2814.1
      UniProtKB/Swiss-Prot
      Q8N112
      Related
      ENSP00000315081.3, ENST00000316436.4
      Conserved Domains (1) summary
      pfam15833
      Location:14 → 162
      DUF4714; Domain of unknown function (DUF4714)

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      50277907..50288114
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533370.4 → XP_011531672.1  leucine-rich single-pass membrane protein 2 isoform X3

      See identical proteins and their annotated locations for XP_011531672.1

      Conserved Domains (1) summary
      pfam15833
      Location:1 → 138
      DUF4714; Domain of unknown function (DUF4714)

    2. XM_006712979.5 → XP_006713042.1  leucine-rich single-pass membrane protein 2 isoform X1

      Conserved Domains (1) summary
      pfam15833
      Location:29 → 171
      DUF4714; Domain of unknown function (DUF4714)

    3. XM_006712980.5 → XP_006713043.1  leucine-rich single-pass membrane protein 2 isoform X2

      Conserved Domains (1) summary
      pfam15833
      Location:29 → 170
      DUF4714; Domain of unknown function (DUF4714)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      50307257..50317471
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345294.1 → XP_054201269.1  leucine-rich single-pass membrane protein 2 isoform X3

    2. XM_054345292.1 → XP_054201267.1  leucine-rich single-pass membrane protein 2 isoform X1

    3. XM_054345293.1 → XP_054201268.1  leucine-rich single-pass membrane protein 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N112.1 GenPept UniProtKB/Swiss-Prot:Q8N112

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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