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
  • E3 Ubiquitin-Protein Ligase ZNRF4 3 4
  • Zinc/RING Finger Protein 4 3 4
  • RING Finger Protein 204 3 4
  • RNF204 3 4
  • EC 2.3.2.27 4
  • SPERIZIN 3
  • Sperizin 2
  • 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 Summary 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).

Additional gene information for ZNRF4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZNRF4 Gene

Genomics for ZNRF4 Gene

GeneHancer (GH) Regulatory Elements for ZNRF4 Gene

Promoters and enhancers for ZNRF4 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
GH19J005045 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 10.2 -407.8 -407760 3.8 ZNF217 CTCF NRF1 TCF12 USF1 TEAD4 FOS ZFX ZIC2 CLOCK PLIN3 PTPRS ZNRF4 UHRF1 lnc-UHRF1-3 KDM4B piR-43976
GH19J005484 Enhancer 1 Ensembl ENCODE 12.8 +29.2 29232 0.9 EP300 NCOR1 TEAD4 ZIC2 KDM6A SKI TEAD1 ZNF341 FOXA2 SMC3 ZNRF4 PTPRS lnc-ZNRF4-1 lnc-TINCR-6 RF00017-2764
GH19J005308 Enhancer 1.2 ENCODE CraniofacialAtlas 10.2 -146.2 -146238 1.6 EP300 ZSCAN5C ZNF639 ZNF10 ZIC2 SNRNP70 POLR2A ZBTB10 TAF7 ZNF423 lnc-ZNRF4-5 DUS3L ENSG00000267030 PTPRS SAFB2 ENSG00000267571 ENSG00000267769 SAFB SNRPEP4 RANBP3
GH19J005394 Enhancer 0.9 Ensembl ENCODE CraniofacialAtlas 12.3 -60.3 -60314 3.4 EP300 RFX1 SMC3 MXI1 POLR2A BCOR PTBP1 SIN3A KDM1A ZFP36 PTPRS ZNRF4 piR-34920-009 piR-52079-092 RF00017-2764
GH19J005351 Enhancer 0.9 Ensembl ENCODE 11 -103.1 -103121 1.2 GTF2E2 POLR2A TAF7 BHLHE40 RBM25 GTF2F1 SALL2 ZNF316 ZNF76 TBP lnc-ZNRF4-3 ZNRF4 SAFB2 HSD11B1L KR153240-006
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZNRF4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZNRF4

Top Transcription factor binding sites by QIAGEN in the ZNRF4 gene promoter:
  • c-Myb
  • CBF(2)
  • FOXC1
  • ITF-2
  • NF-Y
  • Tal-1beta
  • USF-1
  • USF-1:USF-2
  • USF1
  • USF2

Genomic Locations for ZNRF4 Gene

Genomic Locations for ZNRF4 Gene
chr19:5,455,415-5,456,856
(GRCh38/hg38)
Size:
1,442 bases
Orientation:
Plus strand
chr19:5,455,426-5,456,867
(GRCh37/hg19)
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=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for ZNRF4 Gene

Post-translational modifications for ZNRF4 Gene

  • Glycosylation at Asn107, Asn152, and Asn229
  • 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

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

Protein Domains for ZNRF4 Gene

Blocks:
  • Zn-finger, RING
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ZNRF4 Gene

GenScript: Design optimal peptide antigens:
  • RING finger protein 204 (ZNRF4_HUMAN)

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 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).
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; Evidence=. ;.

Enzyme Numbers (IUBMB) for ZNRF4 Gene

Phenotypes From GWAS Catalog 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:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0061630 ubiquitin protein ligase activity IBA 21873635
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNRF4

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
lysosome 3
plasma membrane 2
mitochondrion 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ZNRF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IBA 21873635
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA,IDA 21205830
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ZNRF4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ZNRF4 Gene

Pathways & Interactions for ZNRF4 Gene

PathCards logo

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:0006511 ubiquitin-dependent protein catabolic process IDA,IBA 21205830
GO:0016567 protein ubiquitination IEA --
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

Drugs & Compounds for ZNRF4 Gene

No Compound Related Data Available

Transcripts for ZNRF4 Gene

mRNA/cDNA for ZNRF4 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
1 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 ZNRF4

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

No ASD Table

Relevant External Links for ZNRF4 Gene

GeneLoc Exon Structure for
ZNRF4

Expression for ZNRF4 Gene

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

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

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZNRF4

SOURCE GeneReport for Unigene cluster for ZNRF4 Gene:

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

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 31 30
  • 97.38 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ZNRF4 31 30
  • 81.83 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ZNRF4 31 30
  • 75.78 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Znrf4 17 31 30
  • 67.91 (n)
rat
(Rattus norvegicus)
Mammalia Znrf4 30
  • 65.71 (n)
oppossum
(Monodelphis domestica)
Mammalia ZNRF4 31
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ZNRF4 31
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ZNRF4 31
  • 37 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10277 31
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C18B12.4 31
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.598 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ZNRF4: view image

Paralogs for ZNRF4 Gene

Paralogs for ZNRF4 Gene

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

  • ZNRF4_HUMAN
genes like me logo Genes that share paralogs with ZNRF4: view

Variants for ZNRF4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZNRF4 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs16992985 - p.Asp192Asn
rs17304380 - p.Arg163His
rs2240743 - p.Pro37Ser
rs2240744 - p.Arg78Gln
rs2240745 - p.Val100Ile

Additional dbSNP identifiers (rs#s) for ZNRF4 Gene

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)

Additional Variant Information for ZNRF4 Gene

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

SNP Genotyping and Copy Number Assay Products

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
  • dfnb68
deafness, autosomal recessive 15
  • dfnb15
- elite association - COSMIC cancer census association via MalaCards
Search ZNRF4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 (The Journal of biological chemistry 2011) 2 3 4 54
  2. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J … Lucas SM (Nature 2004) 3 4 54
  3. 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 54
  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 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for ZNRF4 Gene

Sources for ZNRF4 Gene