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Aliases for POM121C Gene

Aliases for POM121C Gene

  • POM121 Transmembrane Nucleoporin C 2 3 5
  • Nuclear Pore Membrane Protein 121-2 3 4
  • Pore Membrane Protein Of 121 KDa C 3 4
  • POM121 Membrane Glycoprotein C 2 3
  • POM121-2 3 4
  • Nuclear Envelope Pore Membrane Protein POM 121C 3

External Ids for POM121C Gene

Previous GeneCards Identifiers for POM121C Gene

  • GC07M074884
  • GC07M075046
  • GC07M071202

Summaries for POM121C Gene

GeneCards Summary for POM121C Gene

POM121C (POM121 Transmembrane Nucleoporin C) is a Protein Coding gene. Among its related pathways are Mitotic Prophase and SUMOylation. An important paralog of this gene is POM121.

UniProtKB/Swiss-Prot for POM121C Gene

  • Essential component of the nuclear pore complex (NPC). The repeat-containing domain may be involved in anchoring components of the pore complex to the pore membrane. When overexpressed in cells induces the formation of cytoplasmic annulate lamellae (AL).

Additional gene information for POM121C Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POM121C Gene

Genomics for POM121C Gene

GeneHancer (GH) Regulatory Elements for POM121C Gene

Promoters and enhancers for POM121C Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I075485 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.2 231 1.7 HDGF ATF1 ARNT ARID4B SIN3A DMAP1 ZNF48 YY1 NCOA2 ETS1 ENSG00000242073 POM121C STAG3L1 PMS2P3 LOC541473 SPDYE5 GC07P075435
GH07I075441 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 550.3 +43.6 43588 2.2 HDAC1 ATF1 RB1 SIN3A ZNF335 ZNF143 ATF7 HCFC1 ELF1 MTA1 POM121C GC07P075435 ENSG00000242073
GH07I075456 Enhancer 0.4 Ensembl 0.3 +29.7 29710 0.8 ZBTB11 ZNF518A GC07P075435 ENSG00000242073 POM121C
GH07I075427 Enhancer 0.6 Ensembl ENCODE 0.2 +57.8 57756 3.1 SRF PKNOX1 ELF1 STAG3L1 LOC541473 TRIM73 SPDYE12P GC07P075435 PIR40068 POM121C
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around POM121C on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the POM121C gene promoter:

Genomic Locations for POM121C Gene

Genomic Locations for POM121C Gene
69,508 bases
Minus strand

Genomic View for POM121C Gene

Genes around POM121C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POM121C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POM121C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POM121C Gene

Proteins for POM121C Gene

  • Protein details for POM121C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Nuclear envelope pore membrane protein POM 121C
    Protein Accession:
    Secondary Accessions:
    • O75115
    • Q9Y2N3
    • Q9Y4S7

    Protein attributes for POM121C Gene

    1229 amino acids
    Molecular mass:
    125059 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for POM121C Gene


neXtProt entry for POM121C Gene

Post-translational modifications for POM121C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for POM121C Gene

No data available for DME Specific Peptides for POM121C Gene

Domains & Families for POM121C Gene

Gene Families for POM121C Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for POM121C Gene


Suggested Antigen Peptide Sequences for POM121C Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains F-X-F-G repeats.
  • Belongs to the POM121 family.
  • Contains F-X-F-G repeats.
  • Belongs to the POM121 family.
genes like me logo Genes that share domains with POM121C: view

Function for POM121C Gene

Molecular function for POM121C Gene

UniProtKB/Swiss-Prot Function:
Essential component of the nuclear pore complex (NPC). The repeat-containing domain may be involved in anchoring components of the pore complex to the pore membrane. When overexpressed in cells induces the formation of cytoplasmic annulate lamellae (AL).

Phenotypes From GWAS Catalog for POM121C Gene

Gene Ontology (GO) - Molecular Function for POM121C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005487 nuclear pore activity IBA --
GO:0005515 protein binding IPI 17577209
GO:0008139 nuclear localization sequence binding IBA --
GO:0017056 structural constituent of nuclear pore IBA --
genes like me logo Genes that share ontologies with POM121C: view

Phenotypes for POM121C Gene

genes like me logo Genes that share phenotypes with POM121C: view

miRNA for POM121C Gene

miRTarBase miRNAs that target POM121C

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for POM121C Gene

Localization for POM121C Gene

Subcellular locations from UniProtKB/Swiss-Prot for POM121C Gene

Nucleus, nuclear pore complex. Nucleus membrane; Single-pass membrane protein. Endoplasmic reticulum membrane; Single-pass membrane protein. Note=Stably associated with the NPC throughout interphase and the endoplasmic reticulum during metaphase. {ECO:0000250}.

Subcellular locations from

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 POM121C gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 3
cytosol 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for POM121C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005635 nuclear envelope TAS --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031965 nuclear membrane IDA,IEA --
genes like me logo Genes that share ontologies with POM121C: view

Pathways & Interactions for POM121C Gene

SuperPathways for POM121C Gene

SuperPathway Contained pathways
1 Transport of the SLBP independent Mature mRNA
2 HIV Life Cycle
3 Cell Cycle, Mitotic
4 Mitotic Prophase
5 Influenza Viral RNA Transcription and Replication
genes like me logo Genes that share pathways with POM121C: view

Pathways by source for POM121C Gene

Interacting Proteins for POM121C Gene

Selected Interacting proteins: A8CG34-P121C_HUMAN for POM121C Gene via IID

Gene Ontology (GO) - Biological Process for POM121C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006110 regulation of glycolytic process TAS --
GO:0006405 RNA export from nucleus IBA --
GO:0006406 mRNA export from nucleus TAS --
GO:0006409 tRNA export from nucleus TAS --
GO:0006606 protein import into nucleus IBA --
genes like me logo Genes that share ontologies with POM121C: view

No data available for SIGNOR curated interactions for POM121C Gene

Drugs & Compounds for POM121C Gene

No Compound Related Data Available

Transcripts for POM121C Gene

mRNA/cDNA for POM121C Gene

(1) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for POM121C Gene

POM121 transmembrane nucleoporin C:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for POM121C Gene

No ASD Table

Relevant External Links for POM121C Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for POM121C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for POM121C Gene

Protein differential expression in normal tissues from HIPED for POM121C Gene

This gene is overexpressed in Placenta (24.2), Fetal ovary (24.1), CD4 Tcells (12.6), and Islet of Langerhans (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for POM121C Gene

Protein tissue co-expression partners for POM121C Gene

NURSA nuclear receptor signaling pathways regulating expression of POM121C Gene:


SOURCE GeneReport for Unigene cluster for POM121C Gene:


Evidence on tissue expression from TISSUES for POM121C Gene

  • Nervous system(3.3)
genes like me logo Genes that share expression patterns with POM121C: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for POM121C Gene

Orthologs for POM121C Gene

This gene was present in the common ancestor of chordates.

Orthologs for POM121C Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia POM121 33
  • 97.65 (n)
(Bos Taurus)
Mammalia POM121C 33
  • 79.09 (n)
(Canis familiaris)
Mammalia POM121C 33
  • 78.17 (n)
(Rattus norvegicus)
Mammalia Pom121 33
  • 74.82 (n)
(Mus musculus)
Mammalia Pom121 33 16
  • 74.63 (n)
(Gallus gallus)
Aves POM121 33
  • 59.74 (n)
Species where no ortholog for POM121C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for POM121C Gene

Gene Tree for POM121C (if available)
Gene Tree for POM121C (if available)

Paralogs for POM121C Gene

Paralogs for POM121C Gene

(299) SIMAP similar genes for POM121C Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with POM121C: view

Variants for POM121C Gene

Sequence variations from dbSNP and Humsavar for POM121C Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs10235892 -- 75,450,301(-) G/A intron_variant
rs10237410 -- 75,440,338(-) T/C intron_variant
rs10239780 -- 75,451,073(-) G/A intron_variant
rs10244237 -- 75,482,347(-) G/A intron_variant
rs10249121 -- 75,434,806(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for POM121C Gene

Variant ID Type Subtype PubMed ID
dgv120n16 CNV deletion 17901297
esv21917 CNV gain 19812545
esv3613722 CNV loss 21293372
nsv1076626 CNV duplication 25765185
nsv1119225 CNV duplication 24896259
nsv365453 CNV deletion 16902084
nsv511367 CNV loss 21212237
nsv528969 CNV gain 19592680
nsv8156 CNV loss 18304495
nsv831035 CNV loss 17160897
nsv981535 CNV duplication 23825009

Variation tolerance for POM121C Gene

Residual Variation Intolerance Score: 96.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.20; 90.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POM121C Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POM121C Gene

Disorders for POM121C Gene

Additional Disease Information for POM121C

No disorders were found for POM121C Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for POM121C Gene

Publications for POM121C Gene

  1. Two distinct human POM121 genes: requirement for the formation of nuclear pore complexes. (PMID: 17900573) Funakoshi T … Imamoto N (FEBS letters 2007) 2 3 4 58
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  3. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 58
  4. Interactions of the Antiviral Factor Interferon Gamma-Inducible Protein 16 (IFI16) Mediate Immune Signaling and Herpes Simplex Virus-1 Immunosuppression. (PMID: 25693804) Diner BA … Cristea IM (Molecular & cellular proteomics : MCP 2015) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for POM121C Gene

Sources for POM121C Gene

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