Aliases for ZSWIM2 Gene

Aliases for ZSWIM2 Gene

  • Zinc Finger SWIM-Type Containing 2 2 3 5
  • ZZZ2 2 3 4
  • MEX 2 3 4
  • Zinc Finger SWIM Domain-Containing Protein 2 3 4
  • RING-Type E3 Ubiquitin Transferase ZSWIM2 3 4
  • ZZ-Type Zinc Finger-Containing Protein 2 3 4
  • E3 Ubiquitin-Protein Ligase ZSWIM2 3 4
  • MEKK1-Related Protein X 3 4
  • Zinc Finger, SWIM Domain Containing 2 3
  • EC 2.3.2.27 4
  • MGC33890 2
  • ZSWIM2 5

External Ids for ZSWIM2 Gene

Previous GeneCards Identifiers for ZSWIM2 Gene

  • GC02M187895
  • GC02M187894
  • GC02M187517
  • GC02M187400
  • GC02M187693
  • GC02M179552

Summaries for ZSWIM2 Gene

GeneCards Summary for ZSWIM2 Gene

ZSWIM2 (Zinc Finger SWIM-Type Containing 2) is a Protein Coding gene. Diseases associated with ZSWIM2 include Acromelic Frontonasal Dysostosis. Gene Ontology (GO) annotations related to this gene include ligase activity and protein self-association.

UniProtKB/Swiss-Prot Summary for ZSWIM2 Gene

  • E3 ubiquitin-protein ligase involved in the regulation of Fas-, DR3- and DR4-mediated apoptosis. Functions in conjunction with the UBE2D1, UBE2D3 and UBE2E1 E2 ubiquitin-conjugating enzymes.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZSWIM2 Gene

Genomics for ZSWIM2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ZSWIM2 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
GH02J186848 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 255 +0.0 7 2 ZNF600 JUND POLR2A ZIC2 ZBTB10 SIN3A ZNF341 ZNF610 SP2 MAX ZSWIM2 HSALNG0020983 FAM171B ITGAV HSALNG0020982
GH02J187539 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.1 -698.0 -698031 16.2 IKZF1 NCOR1 MYC ZNF600 SSRP1 JUND ZNF580 ZNF592 ATF2 KLF9 TFPI CALCRL ZSWIM2 GAPDHP59 ST13P2 lnc-CALCRL-2 piR-39781-017 LOC105373786 ENSG00000224063
GH02J186883 Enhancer 1 Ensembl ENCODE 11.4 -35.9 -35947 5.9 NCOR1 NFIC BCL11A TRIM22 TAL1 EBF1 STAT5A IRF9 SMARCA4 EHMT2 ZSWIM2 FAM171B piR-55194-212 CALCRL
GH02J186892 Enhancer 0.8 Ensembl ENCODE 11.4 -42.0 -41993 2 JUND NFIC ZEB1 CUX1 NR2F6 SP7 MEIS2 ZNF366 ZEB2 ZNF629 ZSWIM2 CALCRL piR-55194-212
GH02J186771 Enhancer 0.8 Ensembl ENCODE 10.6 +77.1 77075 1.7 ZIC2 FEZF1 ZNF217 MBD2 CTBP1 EBF1 DDX20 SIN3A TCF7L2 SMARCE1 ZSWIM2 HSALNG0020982 HSALNG0020980 FAM171B ENSG00000227227
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZSWIM2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZSWIM2

Top Transcription factor binding sites by QIAGEN in the ZSWIM2 gene promoter:
  • aMEF-2
  • HEN1
  • MEF-2
  • MEF-2A
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • STAT5B

Genomic Locations for ZSWIM2 Gene

Latest Assembly
chr2:186,827,475-186,849,208
(GRCh38/hg38)
Size:
21,734 bases
Orientation:
Minus strand

Previous Assembly
chr2:187,692,202-187,713,897
(GRCh37/hg19 by Entrez Gene)
Size:
21,696 bases
Orientation:
Minus strand

chr2:187,692,562-187,713,935
(GRCh37/hg19 by Ensembl)
Size:
21,374 bases
Orientation:
Minus strand

Genomic View for ZSWIM2 Gene

Genes around ZSWIM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZSWIM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZSWIM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZSWIM2 Gene

Proteins for ZSWIM2 Gene

  • Protein details for ZSWIM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NEG5-ZSWM2_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase ZSWIM2
    Protein Accession:
    Q8NEG5
    Secondary Accessions:
    • B3KXV6
    • Q53SI3
    • Q57ZY3

    Protein attributes for ZSWIM2 Gene

    Size:
    633 amino acids
    Molecular mass:
    72732 Da
    Quaternary structure:
    • Dimer. Interacts with UBE2D1.

    Three dimensional structures from OCA and Proteopedia for ZSWIM2 Gene

neXtProt entry for ZSWIM2 Gene

Post-translational modifications for ZSWIM2 Gene

  • Polyubiquitinated. Polyubiquitination is followed by degradation via the proteasome (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ZSWIM2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ZSWIM2 Gene

Domains & Families for ZSWIM2 Gene

Gene Families for ZSWIM2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ZSWIM2 Gene

InterPro:
Blocks:
  • Zn-finger, RING
  • Zn-finger, ZZ type

Suggested Antigen Peptide Sequences for ZSWIM2 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger SWIM domain-containing protein 2 (ZSWM2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NEG5

UniProtKB/Swiss-Prot:

ZSWM2_HUMAN :
  • The SWIM-type zinc finger is required for ubiquitination activity.
Domain:
  • The SWIM-type zinc finger is required for ubiquitination activity.
genes like me logo Genes that share domains with ZSWIM2: view

Function for ZSWIM2 Gene

Molecular function for ZSWIM2 Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase involved in the regulation of Fas-, DR3- and DR4-mediated apoptosis. Functions in conjunction with the UBE2D1, UBE2D3 and UBE2E1 E2 ubiquitin-conjugating enzymes.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27;.

Enzyme Numbers (IUBMB) for ZSWIM2 Gene

Phenotypes From GWAS Catalog for ZSWIM2 Gene

Gene Ontology (GO) - Molecular Function for ZSWIM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IEA --
GO:0008270 zinc ion binding IEA --
GO:0016740 transferase activity IEA --
GO:0043621 protein self-association IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZSWIM2: view

Phenotypes for ZSWIM2 Gene

genes like me logo Genes that share phenotypes with ZSWIM2: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZSWIM2

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ZSWIM2 Gene

Localization for ZSWIM2 Gene

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 ZSWIM2 gene
Compartment Confidence
nucleus 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
cytosol 1
lysosome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for ZSWIM2 Gene

Pathways & Interactions for ZSWIM2 Gene

PathCards logo

SuperPathways for ZSWIM2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZSWIM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IEA --
GO:0006915 apoptotic process IEA --
GO:0016567 protein ubiquitination IEA --
GO:1902043 positive regulation of extrinsic apoptotic signaling pathway via death domain receptors IEA --
genes like me logo Genes that share ontologies with ZSWIM2: view

No data available for Pathways by source and SIGNOR curated interactions for ZSWIM2 Gene

Drugs & Compounds for ZSWIM2 Gene

No Compound Related Data Available

Transcripts for ZSWIM2 Gene

mRNA/cDNA for ZSWIM2 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZSWIM2

Alternative Splicing Database (ASD) splice patterns (SP) for ZSWIM2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1: -
SP2:

Relevant External Links for ZSWIM2 Gene

GeneLoc Exon Structure for
ZSWIM2

Expression for ZSWIM2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZSWIM2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for ZSWIM2 Gene

This gene is overexpressed in Testis (x31.0) and Pituitary (x5.5).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZSWIM2

SOURCE GeneReport for Unigene cluster for ZSWIM2 Gene:

Hs.375054
genes like me logo Genes that share expression patterns with ZSWIM2: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZSWIM2 Gene

Orthologs for ZSWIM2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZSWIM2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ZSWIM2 29 30
  • 98.74 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ZSWIM2 29 30
  • 88.39 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ZSWIM2 29 30
  • 84.12 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Zswim2 29
  • 78.17 (n)
Mouse
(Mus musculus)
Mammalia Zswim2 29 16 30
  • 77.8 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 60 (a)
OneToMany
-- 30
  • 40 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia ZSWIM2 30
  • 54 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ZSWIM2 30
  • 56 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii zgc:165651 29
  • 55.11 (n)
ZSWIM2 30
  • 35 (a)
OneToOne
Species where no ortholog for ZSWIM2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Chicken (Gallus gallus)
  • 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)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)

Evolution for ZSWIM2 Gene

ENSEMBL:
Gene Tree for ZSWIM2 (if available)
TreeFam:
Gene Tree for ZSWIM2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZSWIM2: view image
Alliance of Genome Resources:
Additional Orthologs for ZSWIM2

Paralogs for ZSWIM2 Gene

No data available for Paralogs for ZSWIM2 Gene

Variants for ZSWIM2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZSWIM2 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs142958653 Benign: not provided 186,833,202(-) T/C
NM_182521.3(ZSWIM2):c.859A>G (p.Lys287Glu)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ZSWIM2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Variation tolerance for ZSWIM2 Gene

Residual Variation Intolerance Score: 81.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.36; 81.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZSWIM2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZSWIM2
Leiden Open Variation Database (LOVD)
ZSWIM2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ZSWIM2 Gene

Disorders for ZSWIM2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ZSWIM2 Gene - From: COP

Disorder Aliases PubMed IDs
acromelic frontonasal dysostosis
  • afnd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ZSWIM2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ZSWIM2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZSWIM2 Gene

Publications for ZSWIM2 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  2. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 40
  3. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 40
  4. MEX is a testis-specific E3 ubiquitin ligase that promotes death receptor-induced apoptosis. (PMID: 16522193) Nishito Y … Núñez G (The Biochemical journal 2006) 2 3
  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 ZSWIM2 Gene

Sources for ZSWIM2 Gene