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    LMF2 lipase maturation factor 2 [ Homo sapiens (human) ]

    Gene ID: 91289, updated on 27-Nov-2024

    Summary

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    Official Symbol
    LMF2provided by HGNC
    Official Full Name
    lipase maturation factor 2provided by HGNC
    Primary source
    HGNC:HGNC:25096
    See related
    Ensembl:ENSG00000100258 AllianceGenome:HGNC:25096
    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
    TMEM153; TMEM112B
    Summary
    Predicted to be involved in protein maturation. Located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in pancreas (RPKM 20.5), spleen (RPKM 16.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LMF2 in Genome Data Viewer
    Location:
    22q13.33
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (50502949..50507702, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (51013236..51018273, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (50941378..50946131, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13981 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13982 Neighboring gene adrenomedullin 2 Neighboring gene myo-inositol oxygenase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19321 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13983 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13984 Neighboring gene non-SMC condensin II complex subunit H2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50955745-50956678 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13985 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13986 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:50965237-50965808 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19324 Neighboring gene synthesis of cytochrome C oxidase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19325 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13987 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13988 Neighboring gene thymidine phosphorylase

    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. Development of Biomarkers Based on DNA Methylation in the NCAPH2/LMF2 Promoter Region for Diagnosis of Alzheimer's Disease and Amnesic Mild Cognitive Impairment. Kobayashi N, et al. PLoS One, 2016. PMID 26742120, Free PMC Article
    2. Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia. Péterfy M, et al. Nat Genet, 2007 Dec. PMID 17994020
    3. Proteomic Analysis Reveals a Role for RSK in p120-catenin Phosphorylation and Melanoma Cell-Cell Adhesion. Méant A, et al. Mol Cell Proteomics, 2020 Jan. PMID 31678930, Free PMC Article
    4. The interactome of metabolic enzyme carbonic anhydrase IX reveals novel roles in tumor cell migration and invadopodia/MMP14-mediated invasion. Swayampakula M, et al. Oncogene, 2017 Nov 9. PMID 28692057, Free PMC Article
    5. Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. Tomkins JE, et al. Proteomics, 2018 May. PMID 29513927, Free PMC Article

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DNA methylation in the NCAPH2/LMF2 promoter region is significantly decreased in Alzheimer disease.
      Title: Development of Biomarkers Based on DNA Methylation in the NCAPH2/LMF2 Promoter Region for Diagnosis of Alzheimer's Disease and Amnesic Mild Cognitive Impairment.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein maturation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    lipase maturation factor 2
    Names
    transmembrane protein 112B
    transmembrane protein 153

    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_001363816.2 → NP_001350745.1  lipase maturation factor 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      BC002942, BU628394, BX412067, HY053209, U62317
      Consensus CDS
      CCDS87035.1
      Related
      ENSP00000216080.5, ENST00000216080.5
      Conserved Domains (1) summary
      pfam06762
      Location:102 → 563
      LMF1; Lipase maturation factor

    2. NM_033200.3 → NP_149977.2  lipase maturation factor 2 isoform 1

      See identical proteins and their annotated locations for NP_149977.2

      Status: VALIDATED

      Source sequence(s)
      BC002942, BI917400, BU628394, BX412067, U62317
      Consensus CDS
      CCDS14093.2
      UniProtKB/Swiss-Prot
      A6NEZ0, Q13392, Q6ZNR2, Q8WU74, Q96C62, Q9BU23
      Related
      ENSP00000424381.1, ENST00000474879.7
      Conserved Domains (1) summary
      pfam06762
      Location:127 → 588
      LMF1; Lipase maturation factor

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      50502949..50507702 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006724426.4 → XP_006724489.1  lipase maturation factor 2 isoform X1

      See identical proteins and their annotated locations for XP_006724489.1

      Conserved Domains (1) summary
      pfam06762
      Location:142 → 533
      LMF1; Lipase maturation factor

    2. XM_047441593.1 → XP_047297549.1  lipase maturation factor 2 isoform X3

    3. XM_047441592.1 → XP_047297548.1  lipase maturation factor 2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      51013236..51018273 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326122.1 → XP_054182097.1  lipase maturation factor 2 isoform X1

    2. XM_054326124.1 → XP_054182099.1  lipase maturation factor 2 isoform X3

    3. XM_054326123.1 → XP_054182098.1  lipase maturation factor 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BU23.2 GenPept UniProtKB/Swiss-Prot:Q9BU23

    Gene LinkOut

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

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