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    NEMP2 nuclear envelope integral membrane protein 2 [ Homo sapiens (human) ]

    Gene ID: 100131211, updated on 27-Nov-2024

    Summary

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    Official Symbol
    NEMP2provided by HGNC
    Official Full Name
    nuclear envelope integral membrane protein 2provided by HGNC
    Primary source
    HGNC:HGNC:33700
    See related
    Ensembl:ENSG00000189362 MIM:616497; AllianceGenome:HGNC:33700
    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
    TMEM194B
    Summary
    Predicted to be located in nuclear inner membrane. Predicted to be active in nuclear envelope. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 2.0), lymph node (RPKM 1.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NEMP2 in Genome Data Viewer
    Location:
    2q32.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (190421421..190648785, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (190930561..191096453, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (191369064..191399448, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene chromosome 2 open reading frame 88 Neighboring gene 3-hydroxyisobutyryl-CoA hydrolase Neighboring gene Sharpr-MPRA regulatory region 4599 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:191144703-191145674 Neighboring gene serine/arginine repetitive matrix protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12176 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12177 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16859 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12178 Neighboring gene inositol polyphosphate-1-phosphatase Neighboring gene ReSE screen-validated silencer GRCh37_chr2:191293549-191293748 Neighboring gene major facilitator superfamily domain containing 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12179 Neighboring gene uncharacterized LOC124906136 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16861 Neighboring gene NEMP2 divergent transcript Neighboring gene RN7SK pseudogene 179 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:191472316-191473515 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:191501909-191502643 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12183 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12184 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12182 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12181 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12180 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16863 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16864 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16865 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16866 Neighboring gene uncharacterized LOC124907946 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:191624535-191625734 Neighboring gene NGFI-A binding protein 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. The Inner Nuclear Membrane Protein Nemp1 Is a New Type of RanGTP-Binding Protein in Eukaryotes. Shibano T, et al. PLoS One, 2015. PMID 25946333, Free PMC Article
    2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier LW, et al. Nature, 2005 Apr 7. PMID 15815621
    3. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
    4. VIRMA mediates preferential m(6)A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. Yue Y, et al. Cell Discov, 2018. PMID 29507755, 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 (8) 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

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in nuclear envelope IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear inner membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    nuclear envelope integral membrane protein 2
    Names
    UPF0571 transmembrane protein
    transmembrane protein 194B

    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_001142645.2 → NP_001136117.1  nuclear envelope integral membrane protein 2 precursor

      See identical proteins and their annotated locations for NP_001136117.1

      Status: VALIDATED

      Source sequence(s)
      AC093388
      Consensus CDS
      CCDS46476.1
      UniProtKB/Swiss-Prot
      A6NFY4, B4DYG6
      UniProtKB/TrEMBL
      B7Z482
      Related
      ENSP00000386292.3, ENST00000409150.8
      Conserved Domains (1) summary
      pfam10225
      Location:142 → 390
      NEMP; NEMP family

    RNA

    1. NR_136298.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AA521390, AC093388, AK296987, AK302425, DA417772

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      190421421..190648785 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441941.1 → XP_047297897.1  nuclear envelope integral membrane protein 2 isoform X4

    2. XM_017003100.2 → XP_016858589.1  nuclear envelope integral membrane protein 2 isoform X3

      UniProtKB/TrEMBL
      B7Z482

    3. XM_011510458.4 → XP_011508760.1  nuclear envelope integral membrane protein 2 isoform X6

      UniProtKB/TrEMBL
      B7Z482
      Conserved Domains (1) summary
      pfam10225
      Location:143 → 376
      DUF2215; Uncharacterized conserved protein (DUF2215)

    4. XM_017003099.1 → XP_016858588.1  nuclear envelope integral membrane protein 2 isoform X2

      UniProtKB/TrEMBL
      B7Z482

    5. XM_047441946.1 → XP_047297902.1  nuclear envelope integral membrane protein 2 isoform X5

    6. XM_017003098.2 → XP_016858587.1  nuclear envelope integral membrane protein 2 isoform X1

      UniProtKB/TrEMBL
      B7Z482

    7. XM_047441958.1 → XP_047297914.1  nuclear envelope integral membrane protein 2 isoform X7

    8. XM_011510459.4 → XP_011508761.1  nuclear envelope integral membrane protein 2 isoform X7

      See identical proteins and their annotated locations for XP_011508761.1

      UniProtKB/TrEMBL
      B7Z482
      Conserved Domains (1) summary
      pfam10225
      Location:74 → 321
      DUF2215; Uncharacterized conserved protein (DUF2215)

    9. XM_047441961.1 → XP_047297917.1  nuclear envelope integral membrane protein 2 isoform X8

    10. XM_005246212.4 → XP_005246269.1  nuclear envelope integral membrane protein 2 isoform X7

      See identical proteins and their annotated locations for XP_005246269.1

      UniProtKB/TrEMBL
      B7Z482
      Conserved Domains (1) summary
      pfam10225
      Location:74 → 321
      DUF2215; Uncharacterized conserved protein (DUF2215)

    RNA

    1. XR_007068185.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      190930561..191096453 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340049.1 → XP_054196024.1  nuclear envelope integral membrane protein 2 isoform X11

    2. XM_054340050.1 → XP_054196025.1  nuclear envelope integral membrane protein 2 isoform X5

    3. XM_054340048.1 → XP_054196023.1  nuclear envelope integral membrane protein 2 isoform X10

    4. XM_054340047.1 → XP_054196022.1  nuclear envelope integral membrane protein 2 isoform X9

    5. XM_054340052.1 → XP_054196027.1  nuclear envelope integral membrane protein 2 isoform X7

    6. XM_054340051.1 → XP_054196026.1  nuclear envelope integral membrane protein 2 isoform X7

    7. XM_054340053.1 → XP_054196028.1  nuclear envelope integral membrane protein 2 isoform X8

    RNA

    1. XR_008486238.1 RNA Sequence

    2. XR_008486240.1 RNA Sequence

    3. XR_008486239.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NFY4.3 GenPept UniProtKB/Swiss-Prot:A6NFY4

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