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 ... See more...

Aliases for NOMO2 Gene

Aliases for NOMO2 Gene

  • NODAL Modulator 2 2 3 5
  • Nodal Modulator 2 3 4
  • PM5 Protein 2 3 4
  • PM5 2 3
  • PM5 Protein, Centromeric Copy 3
  • NOMO2 5
  • Nomo 3
  • NOMO 2

External Ids for NOMO2 Gene

Previous GeneCards Identifiers for NOMO2 Gene

  • GC16M018419
  • GC16M018511
  • GC16M018420
  • GC16M018440
  • GC16M018443
  • GC16M018447
  • GC16M018459
  • GC16M018424
  • GC16M018427
  • GC16M018431
  • GC16M018435

Summaries for NOMO2 Gene

Entrez Gene Summary for NOMO2 Gene

  • 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]

GeneCards Summary for NOMO2 Gene

NOMO2 (NODAL Modulator 2) is a Protein Coding gene. Diseases associated with NOMO2 include Pseudoxanthoma Elasticum and Superficial Urinary Bladder Cancer. Gene Ontology (GO) annotations related to this gene include carbohydrate binding. An important paralog of this gene is NOMO3.

UniProtKB/Swiss-Prot Summary for NOMO2 Gene

  • May antagonize Nodal signaling and subsequent organization of axial structures during mesodermal patterning, via its interaction with NCLN.

Additional gene information for NOMO2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NOMO2 Gene

Genomics for NOMO2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NOMO2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J018561 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 600.7 +0.8 811 2.8 ZSCAN4 NR2C1 SP2 RAD21 POLR2A ZBTB26 SIN3A IKZF1 NR2F1 MNT NOMO2 NPIPA9 HSALNG0109766-002 LOC102723728
GH16J018591 Enhancer 0.7 Ensembl 0.3 -30.4 -30390 2 CTCF ZNF692 BACH1 TCF12 IKZF2 DPF2 RELB ATF2 NBN IKZF1 HSALNG0109953 NPIPA9 piR-46002-225 ABCC6P1 NOMO2 RPS15A
GH16J018571 Promoter 0.4 Ensembl 0.4 -9.0 -8990 2 DACH1 ABCC6P1 ENSG00000260550 lnc-TMC7-6 NPIPA9 NOMO2 RPS15A
GH16J018595 Enhancer 0.7 Ensembl 0.3 -32.9 -32890 0.6 BACH1 TCF12 IKZF2 SCRT2 DPF2 RELB GATAD2B SCRT1 ARNT NBN HSALNG0109953 piR-46002-225 ABCC6P1 NOMO2 RPS15A
GH16J018580 Enhancer 0.5 Ensembl 0.4 -22.8 -22790 10.8 FOXA2 BCOR SPI1 ZMYM3 RARA ABCC6P1 NPIPA9 HSALNG0109953 ENSG00000260550 lnc-TMC7-6 NOMO2 RPS15A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NOMO2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NOMO2

Top Transcription factor binding sites by QIAGEN in the NOMO2 gene promoter:
  • AML1a
  • AREB6
  • Elk-1
  • GATA-1
  • Lmo2
  • MZF-1
  • p53
  • Pax-6
  • Sp1

Genomic Locations for NOMO2 Gene

Genomic Locations for NOMO2 Gene
chr16:18,417,325-18,562,211
(GRCh38/hg38)
Size:
144,887 bases
Orientation:
Minus strand
chr16:18,511,182-18,573,533
(GRCh37/hg19)
Size:
62,352 bases
Orientation:
Minus strand

Genomic View for NOMO2 Gene

Genes around NOMO2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NOMO2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NOMO2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NOMO2 Gene

Proteins for NOMO2 Gene

  • Protein details for NOMO2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5JPE7-NOMO2_HUMAN
    Recommended name:
    Nodal modulator 2
    Protein Accession:
    Q5JPE7
    Secondary Accessions:
    • Q4G177

    Protein attributes for NOMO2 Gene

    Size:
    1267 amino acids
    Molecular mass:
    139439 Da
    Quaternary structure:
    • Forms a complex with NCLN and TMEM147, resulting in a stabilization of the 3 proteins, which are otherwise quickly degraded by the proteasome.

    Alternative splice isoforms for NOMO2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NOMO2 Gene

Post-translational modifications for NOMO2 Gene

  • Glycosylation at Asn50, Asn218, Asn369, and Asn618
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • NOMO2_HUMAN (1573)

No data available for DME Specific Peptides for NOMO2 Gene

Domains & Families for NOMO2 Gene

Gene Families for NOMO2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for NOMO2 Gene

InterPro:
Blocks:
  • Cna B-type
ProtoNet:

Suggested Antigen Peptide Sequences for NOMO2 Gene

GenScript: Design optimal peptide antigens:
  • pM5 protein 2 (NOMO2_HUMAN)
genes like me logo Genes that share domains with NOMO2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for NOMO2 Gene

Function for NOMO2 Gene

Molecular function for NOMO2 Gene

UniProtKB/Swiss-Prot Function:
May antagonize Nodal signaling and subsequent organization of axial structures during mesodermal patterning, via its interaction with NCLN.

Phenotypes From GWAS Catalog for NOMO2 Gene

Gene Ontology (GO) - Molecular Function for NOMO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17261586
GO:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with NOMO2: view

Phenotypes for NOMO2 Gene

genes like me logo Genes that share phenotypes with NOMO2: view

Animal Model Products

CRISPR Products

miRNA for NOMO2 Gene

miRTarBase miRNAs that target NOMO2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NOMO2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NOMO2 Gene

Localization for NOMO2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NOMO2 Gene

Endoplasmic reticulum membrane. Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NOMO2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 2
extracellular 1
cytoskeleton 1
nucleus 1
cytosol 1
mitochondrion 0
peroxisome 0

Gene Ontology (GO) - Cellular Components for NOMO2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IBA,IDA 17261586
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0032991 protein-containing complex IDA 20538592
genes like me logo Genes that share ontologies with NOMO2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NOMO2 Gene

Pathways & Interactions for NOMO2 Gene

PathCards logo

SuperPathways for NOMO2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NOMO2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for NOMO2 Gene

Drugs & Compounds for NOMO2 Gene

No Compound Related Data Available

Transcripts for NOMO2 Gene

mRNA/cDNA for NOMO2 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NOMO2

Alternative Splicing Database (ASD) splice patterns (SP) for NOMO2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^ 16a · 16b · 16c ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^
SP1:
SP2:
SP3:
SP4:
SP5: -
SP6:

ExUns: 22a · 22b ^ 23
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for NOMO2 Gene

GeneLoc Exon Structure for
NOMO2

Expression for NOMO2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NOMO2 Gene

Protein differential expression in normal tissues from HIPED for NOMO2 Gene

This gene is overexpressed in Heart (19.9), Peripheral blood mononuclear cells (17.0), Brain (15.3), Placenta (9.3), and Pancreatic juice (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NOMO2 Gene



Protein tissue co-expression partners for NOMO2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NOMO2

SOURCE GeneReport for Unigene cluster for NOMO2 Gene:

Hs.460141

mRNA Expression by UniProt/SwissProt for NOMO2 Gene:

Q5JPE7-NOMO2_HUMAN
Tissue specificity: Highly expressed in pancreas and skeletal muscle and, at lower levels, in heart.

Evidence on tissue expression from TISSUES for NOMO2 Gene

  • Lymph node(4.4)
  • Blood(4.3)
  • Nervous system(4.2)
  • Lung(3)
  • Adrenal gland(2.7)
  • Intestine(2.4)
  • Pancreas(2.2)
  • Muscle(2.1)
  • Skin(2)
genes like me logo Genes that share expression patterns with NOMO2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NOMO2 Gene

Orthologs for NOMO2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NOMO2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia -- 31
  • 99 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia -- 31
  • 95 (a)
OneToMany
NOMO1 30
  • 88.45 (n)
Dog
(Canis familiaris)
Mammalia -- 31
  • 95 (a)
OneToMany
NOMO1 30
  • 89.97 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 87 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Nomo1 30
  • 86.82 (n)
Mouse
(Mus musculus)
Mammalia Nomo1 30 31
  • 86.32 (n)
OneToMany
Chicken
(Gallus gallus)
Aves -- 31
  • 86 (a)
OneToMany
PM5 30
  • 77.23 (n)
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 86 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia nomo3 30
  • 72.02 (n)
Str.1592 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.4837 30
Zebrafish
(Danio rerio)
Actinopterygii nomo 30 31
  • 66.67 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG1371 30 31
  • 46.02 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005856 30
  • 45.18 (n)
Worm
(Caenorhabditis elegans)
Secernentea nra-4 30 31
  • 42.93 (n)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT3G62360 30
  • 44.96 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0300600 30
  • 45.37 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4870 31
  • 37 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.7168 30
Species where no ortholog for NOMO2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for NOMO2 Gene

ENSEMBL:
Gene Tree for NOMO2 (if available)
TreeFam:
Gene Tree for NOMO2 (if available)

Paralogs for NOMO2 Gene

Paralogs for NOMO2 Gene

(3) SIMAP similar genes for NOMO2 Gene using alignment to 6 proteins:

  • NOMO2_HUMAN
  • H3BMJ6_HUMAN
  • H3BNC4_HUMAN
  • H3BPS9_HUMAN
  • H3BTW1_HUMAN
  • Q4G177_HUMAN
genes like me logo Genes that share paralogs with NOMO2: view

Variants for NOMO2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NOMO2 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs1062413 - p.Val493Met
rs15984 - p.Val580Met

Additional dbSNP identifiers (rs#s) for NOMO2 Gene

Structural Variations from Database of Genomic Variants (DGV) for NOMO2 Gene

Variant ID Type Subtype PubMed ID
dgv2775n100 CNV gain 25217958
dgv2776n100 CNV gain+loss 25217958
dgv2777n100 CNV loss 25217958
dgv2781n100 CNV gain+loss 25217958
dgv2782n100 CNV loss 25217958
dgv2783n100 CNV gain 25217958
dgv2784n100 CNV gain 25217958
dgv2785n100 CNV gain 25217958
dgv2786n100 CNV gain+loss 25217958
dgv4924n54 CNV gain 21841781
esv2421404 CNV deletion 20811451
esv2714015 CNV deletion 23290073
esv2751550 CNV gain 17911159
esv2758633 CNV gain+loss 17122850
esv2758634 CNV gain+loss 17122850
esv2760417 CNV loss 21179565
esv2762176 CNV gain+loss 21179565
esv2762276 CNV gain+loss 21179565
esv28069 CNV gain+loss 19812545
esv33614 CNV gain+loss 17666407
esv34419 CNV gain 17911159
esv3570398 CNV gain 25503493
esv3582069 CNV loss 25503493
esv3638110 CNV loss 21293372
esv3638111 CNV gain 21293372
nsv1043239 CNV gain 25217958
nsv1047898 CNV loss 25217958
nsv1048002 CNV gain 25217958
nsv1049647 CNV gain+loss 25217958
nsv1110271 CNV duplication 24896259
nsv1125134 CNV deletion 24896259
nsv1143812 CNV deletion 24896259
nsv1144760 CNV deletion 24896259
nsv1160365 CNV duplication 26073780
nsv428319 CNV loss 18775914
nsv428320 CNV loss 18775914
nsv435664 CNV deletion 17901297
nsv457428 CNV gain 19166990
nsv469785 CNV gain+loss 16826518
nsv509599 CNV insertion 20534489
nsv7278 OTHER inversion 18451855
nsv833160 CNV gain 17160897
nsv9362 CNV loss 18304495
nsv9363 CNV loss 18304495
nsv9379 CNV gain 18304495
nsv978101 CNV duplication 23825009
nsv984273 CNV duplication 23825009
nsv984274 CNV duplication 23825009

Variation tolerance for NOMO2 Gene

Gene Damage Index Score: 4.06; 60.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NOMO2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NOMO2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NOMO2 Gene

Disorders for NOMO2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for NOMO2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
pseudoxanthoma elasticum
  • pxe
superficial urinary bladder cancer
  • superficial urinary bladder carcinoma
afferent loop syndrome
ulcerative stomatitis
  • aphthous stomatitis
splenic abscess
- elite association - COSMIC cancer census association via MalaCards
Search NOMO2 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with NOMO2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NOMO2 Gene

Publications for NOMO2 Gene

  1. Nicalin and its binding partner Nomo are novel Nodal signaling antagonists. (PMID: 15257293) Haffner C … Haass C (The EMBO journal 2004) 2 3 4
  2. Transmembrane protein 147 (TMEM147) is a novel component of the Nicalin-NOMO protein complex. (PMID: 20538592) Dettmer U … Haffner C (The Journal of biological chemistry 2010) 3 4
  3. The Nicastrin-like protein Nicalin regulates assembly and stability of the Nicalin-nodal modulator (NOMO) membrane protein complex. (PMID: 17261586) Haffner C … Haass C (The Journal of biological chemistry 2007) 3 4
  4. The sequence and analysis of duplication-rich human chromosome 16. (PMID: 15616553) Martin J … Pennacchio LA (Nature 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for NOMO2 Gene

Sources for NOMO2 Gene