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    NOMO2 NODAL modulator 2 [ Homo sapiens (human) ]

    Gene ID: 283820, updated on 3-Nov-2024

    Summary

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    Official Symbol
    NOMO2provided by HGNC
    Official Full Name
    NODAL modulator 2provided by HGNC
    Primary source
    HGNC:HGNC:22652
    See related
    Ensembl:ENSG00000185164 MIM:609158; AllianceGenome:HGNC:22652
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PM5; Nomo
    Summary
    This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a region of duplication located on the p arm of chromosome 16. These three genes encode closely related proteins that may have the same function. The protein encoded by one of these genes has been identified as part of a protein complex that participates in the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated with pseudoxanthoma elasticum (PXE). Two transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
    Annotation information
    Annotation category: suggests misassembly
    Expression
    Ubiquitous expression in brain (RPKM 58.0), heart (RPKM 50.7) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See NOMO2 in Genome Data Viewer
    Location:
    16p12.3
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (18499927..18562112, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (18431048..18493293, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (18511185..18573434, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379460 Neighboring gene microRNA 3670-4 Neighboring gene microRNA 3179-4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:18546813-18547314 Neighboring gene Sharpr-MPRA regulatory region 10538 Neighboring gene ATP binding cassette subfamily C member 6 pseudogene 1 Neighboring gene uncharacterized LOC124903655

    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. The Nicastrin-like protein Nicalin regulates assembly and stability of the Nicalin-nodal modulator (NOMO) membrane protein complex. Haffner C, et al. J Biol Chem, 2007 Apr 6. PMID 17261586
    2. A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1. van Soest S, et al. Genome Res, 1997 Aug. PMID 9267806, Free PMC Article
    3. Transmembrane protein 147 (TMEM147) is a novel component of the Nicalin-NOMO protein complex. Dettmer U, et al. J Biol Chem, 2010 Aug 20. PMID 20538592, Free PMC Article
    4. Substrate-driven assembly of a translocon for multipass membrane proteins. Sundaram A, et al. Nature, 2022 Nov. PMID 36261522, Free PMC Article
    5. An ER translocon for multi-pass membrane protein biogenesis. McGilvray PT, et al. Elife, 2020 Aug 21. PMID 32820719, Free PMC Article

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    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 carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ribosome binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in multi-pass transmembrane protein insertion into ER membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of multi-pass translocon complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    BOS complex subunit NOMO2
    Names
    pM5 protein 2
    pM5 protein, centromeric copy

    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_001004060.2 → NP_001004060.1  BOS complex subunit NOMO2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001004060.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (1).
      Source sequence(s)
      BC028389, BC041131, BG830626
      Consensus CDS
      CCDS32394.1
      UniProtKB/Swiss-Prot
      Q4G177, Q5JPE7
      UniProtKB/TrEMBL
      A0A0G2JN29
      Related
      ENSP00000477502.1, ENST00000621364.4
      Conserved Domains (2) summary
      pfam05738
      Location:875 → 927
      Cna_B; Cna protein B-type domain
      pfam13620
      Location:330 → 404
      CarboxypepD_reg; Carboxypeptidase regulatory-like domain

    2. NM_173614.4 → NP_775885.1  BOS complex subunit NOMO2 isoform 2 precursor

      See identical proteins and their annotated locations for NP_775885.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate segment in the 3' CDS, compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC136618
      Consensus CDS
      CCDS10570.1
      UniProtKB/TrEMBL
      A0A7I2V6B0
      Related
      ENSP00000478653.1, ENST00000622306.5
      Conserved Domains (2) summary
      pfam05738
      Location:875 → 927
      Cna_B; Cna protein B-type domain
      pfam13620
      Location:330 → 404
      CarboxypepD_reg; Carboxypeptidase regulatory-like domain

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      18499927..18562112 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017023156.3 → XP_016878645.1  BOS complex subunit NOMO2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      18431048..18493293 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380081.1 → XP_054236056.1  BOS complex subunit NOMO2 isoform X1

    2. XM_054380082.1 → XP_054236057.1  BOS complex subunit NOMO2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5JPE7.1 GenPept UniProtKB/Swiss-Prot:Q5JPE7

    Gene LinkOut

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

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