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

Gene ID: 91289, updated on 2-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
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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 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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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

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

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