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NOMO2 NODAL modulator 2 [ Homo sapiens (human) ]

Gene ID: 283820, updated on 27-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
  • 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

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