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

Gene ID: 100131211, updated on 2-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
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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 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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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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