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Aliases for ZNRF4 Gene

Aliases for ZNRF4 Gene

  • Zinc And Ring Finger 4 2 3 5
  • Nixin 2 3 4
  • RING-Type E3 Ubiquitin Transferase ZNRF4 3 4
  • Zinc/RING Finger Protein 4 3 4
  • RING Finger Protein 204 3 4
  • Sperizin 2 3
  • RNF204 3 4
  • E3 Ubiquitin-Protein Ligase ZNRF4 3
  • EC 2.3.2.27 4
  • Ssrzf1 3
  • Spzn 3

External Ids for ZNRF4 Gene

Previous GeneCards Identifiers for ZNRF4 Gene

  • GC19P005407
  • GC19P005216

Summaries for ZNRF4 Gene

GeneCards Summary for ZNRF4 Gene

ZNRF4 (Zinc And Ring Finger 4) is a Protein Coding gene. Diseases associated with ZNRF4 include Deafness, Autosomal Recessive 68 and Deafness, Autosomal Recessive 15. An important paralog of this gene is RNF13.

UniProtKB/Swiss-Prot for ZNRF4 Gene

  • E3 ubiquitin-protein ligase which specifically induces ubiquitination and proteasomal degradation of CANX within the endoplasmic reticulum (PubMed:21205830). Could have a role in spermatogenesis (By similarity).

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZNRF4 Gene

Genomics for ZNRF4 Gene

Regulatory Elements for ZNRF4 Gene

Enhancers for ZNRF4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G005045 1.5 Ensembl ENCODE dbSUPER 10.3 -407.4 -407428 4.5 HDGF PKNOX1 FOXA2 ARID4B SIN3A ZNF2 ZNF48 GLIS2 ZNF143 FOS PLIN3 PTPRS ZNRF4 UHRF1 GC19P005074 GC19M004987
GH19G005308 1.3 Ensembl ENCODE 10.2 -146.2 -146239 1.6 HNRNPUL1 SIN3A FEZF1 ZNF2 ZNF302 ZNF263 SP3 REST ZNF610 ZSCAN16 ENSG00000267571 ENSG00000267030 ENSG00000267255 VMAC SH3GL1 DPP9-AS1 PTPRS ENSG00000267769 SAFB SNRPEP4
GH19G005484 0.9 ENCODE 12.8 +29.3 29299 0.8 ELF3 FOXA2 PKNOX1 MLX ARID4B DMAP1 THRB RAD21 YY1 RARA ZNRF4 PTPRS GC19M005474 GC19M005512
GH19G005115 0.9 ENCODE dbSUPER 10.2 -339.4 -339371 0.2 SOX5 SOX13 CEBPB CEBPG NR2F2 CEBPA BCL6 KDM1A HNF4A KDM4B PLIN3 ZNRF4 GC19P005127 GC19P005074
GH19G005351 0.8 ENCODE 11 -103.2 -103201 1.1 TBP PKNOX1 ARNT NFRKB ZNF76 KLF17 POLR3A SCRT2 ZNF143 BCLAF1 SH3GL1 ENSG00000267255 SNRPEP4 ZNRF4 VMAC RPL36 ENSG00000267571 SAFB2 HSD11B1L PTPRS
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ZNRF4 on UCSC Golden Path with GeneCards custom track

Genomic Location for ZNRF4 Gene

Chromosome:
19
Start:
5,455,415 bp from pter
End:
5,456,856 bp from pter
Size:
1,442 bases
Orientation:
Plus strand

Genomic View for ZNRF4 Gene

Genes around ZNRF4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNRF4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNRF4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNRF4 Gene

Proteins for ZNRF4 Gene

  • Protein details for ZNRF4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WWF5-ZNRF4_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase ZNRF4
    Protein Accession:
    Q8WWF5
    Secondary Accessions:
    • A8K886
    • O75866

    Protein attributes for ZNRF4 Gene

    Size:
    429 amino acids
    Molecular mass:
    46958 Da
    Quaternary structure:
    • Interacts with CANX.
    SequenceCaution:
    • Sequence=AAC62428.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for ZNRF4 Gene

Post-translational modifications for ZNRF4 Gene

  • Glycosylation at isoforms=107, posLast=152152, and isoforms=229
  • Modification sites at PhosphoSitePlus

Other Protein References for ZNRF4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ZNRF4 Gene

Domains & Families for ZNRF4 Gene

Gene Families for ZNRF4 Gene

Protein Domains for ZNRF4 Gene

Suggested Antigen Peptide Sequences for ZNRF4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WWF5

UniProtKB/Swiss-Prot:

ZNRF4_HUMAN :
  • The RING-type zinc finger is involved in CANX ubiquitination and degradation, but is not required for interaction with CANX.
Domain:
  • The RING-type zinc finger is involved in CANX ubiquitination and degradation, but is not required for interaction with CANX.
genes like me logo Genes that share domains with ZNRF4: view

Function for ZNRF4 Gene

Molecular function for ZNRF4 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
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.
UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase which specifically induces ubiquitination and proteasomal degradation of CANX within the endoplasmic reticulum (PubMed:21205830). Could have a role in spermatogenesis (By similarity).

Enzyme Numbers (IUBMB) for ZNRF4 Gene

Gene Ontology (GO) - Molecular Function for ZNRF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21205830
GO:0008270 zinc ion binding IEA --
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZNRF4: view
genes like me logo Genes that share phenotypes with ZNRF4: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ZNRF4 Gene

Localization for ZNRF4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNRF4 Gene

Endoplasmic reticulum membrane; Single-pass type I 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 ZNRF4 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3

Gene Ontology (GO) - Cellular Components for ZNRF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IDA,IEA 21205830
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ZNRF4: view

Pathways & Interactions for ZNRF4 Gene

SuperPathways for ZNRF4 Gene

No Data Available

UniProtKB/Swiss-Prot Q8WWF5-ZNRF4_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for ZNRF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process IDA 21205830
genes like me logo Genes that share ontologies with ZNRF4: view

No data available for Pathways by source and SIGNOR curated interactions for ZNRF4 Gene

Transcripts for ZNRF4 Gene

mRNA/cDNA for ZNRF4 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(24) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ZNRF4 Gene

Zinc and ring finger 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZNRF4 Gene

No ASD Table

Relevant External Links for ZNRF4 Gene

GeneLoc Exon Structure for
ZNRF4
ECgene alternative splicing isoforms for
ZNRF4

Expression for ZNRF4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ZNRF4 Gene

mRNA differential expression in normal tissues according to GTEx for ZNRF4 Gene

This gene is overexpressed in Testis (x52.2).

NURSA nuclear receptor signaling pathways regulating expression of ZNRF4 Gene:

ZNRF4

SOURCE GeneReport for Unigene cluster for ZNRF4 Gene:

Hs.126496
genes like me logo Genes that share expression patterns with ZNRF4: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 ZNRF4 Gene

Orthologs for ZNRF4 Gene

This gene was present in the common ancestor of animals.

Orthologs for ZNRF4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZNRF4 34 35
  • 97.38 (n)
dog
(Canis familiaris)
Mammalia ZNRF4 34 35
  • 81.83 (n)
cow
(Bos Taurus)
Mammalia ZNRF4 34 35
  • 75.78 (n)
mouse
(Mus musculus)
Mammalia Znrf4 34 16 35
  • 67.91 (n)
rat
(Rattus norvegicus)
Mammalia Znrf4 34
  • 65.71 (n)
oppossum
(Monodelphis domestica)
Mammalia ZNRF4 35
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ZNRF4 35
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ZNRF4 35
  • 37 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10277 35
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C18B12.4 35
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.598 35
  • 23 (a)
OneToMany
Species where no ortholog for ZNRF4 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)
  • 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)
  • 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 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)
  • zebrafish (Danio rerio)

Evolution for ZNRF4 Gene

ENSEMBL:
Gene Tree for ZNRF4 (if available)
TreeFam:
Gene Tree for ZNRF4 (if available)

Paralogs for ZNRF4 Gene

(2) SIMAP similar genes for ZNRF4 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ZNRF4: view

Variants for ZNRF4 Gene

Sequence variations from dbSNP and Humsavar for ZNRF4 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000178560 -- 5,457,086(+) GATGG(C/G)CTTAT downstream-variant-500B
rs1000702079 -- 5,454,631(+) GGGGA(A/G)GAGGT upstream-variant-2KB
rs1001203018 -- 5,453,525(+) GCCAA(A/G)GCAGT upstream-variant-2KB
rs1001990788 -- 5,453,707(+) ACCCC(C/T)GTTTC upstream-variant-2KB
rs1002055242 -- 5,454,925(+) GCCCA(C/T)GCAAA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for ZNRF4 Gene

Variant ID Type Subtype PubMed ID
esv3643526 CNV gain 21293372
nsv1055783 CNV gain 25217958
nsv470118 CNV loss 18288195
nsv510751 CNV deletion 20534489
nsv516923 CNV loss 19592680
nsv833726 CNV loss 17160897

Variation tolerance for ZNRF4 Gene

Residual Variation Intolerance Score: 96.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.78; 93.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZNRF4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZNRF4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNRF4 Gene

Disorders for ZNRF4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ZNRF4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
deafness, autosomal recessive 68
  • autosomal recessive nonsyndromic deafness 68
deafness, autosomal recessive 15
  • autosomal recessive nonsyndromic deafness 15
- elite association - COSMIC cancer census association via MalaCards
Search ZNRF4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ZNRF4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZNRF4
genes like me logo Genes that share disorders with ZNRF4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZNRF4 Gene

Publications for ZNRF4 Gene

  1. A systematic search for endoplasmic reticulum (ER) membrane-associated RING finger proteins identifies Nixin/ZNRF4 as a regulator of calnexin stability and ER homeostasis. (PMID: 21205830) Neutzner A. … Karbowski M. (J. Biol. Chem. 2011) 2 3 4 64
  2. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J. … Lucas S.M. (Nature 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Sperizin is a murine RING zinc-finger protein specifically expressed in Haploid germ cells. (PMID: 10191088) Fujii T. … Abiko Y. (Genomics 1999) 2 3 64
  5. A comprehensive framework of E2-RING E3 interactions of the human ubiquitin-proteasome system. (PMID: 19690564) van Wijk S.J. … Timmers H.T. (Mol. Syst. Biol. 2009) 3 64

Products for ZNRF4 Gene

Sources for ZNRF4 Gene

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