Aliases for ZFAND5 Gene

Aliases for ZFAND5 Gene

  • Zinc Finger AN1-Type Containing 5 2 3 5
  • Zinc Finger Protein 216 2 3 4
  • Zinc Finger A20 Domain-Containing Protein 2 3 4
  • Zinc Finger, A20 Domain Containing 2 2 3
  • AN1-Type Zinc Finger Protein 5 3 4
  • Zinc Finger, AN1-Type Domain 5 2 3
  • ZA20D2 3 4
  • ZNF216 3 4
  • ZFAND5A 3

External Ids for ZFAND5 Gene

Previous HGNC Symbols for ZFAND5 Gene

  • ZNF216
  • ZA20D2

Previous GeneCards Identifiers for ZFAND5 Gene

  • GC09M074159
  • GC09M074966
  • GC09M044789

Summaries for ZFAND5 Gene

GeneCards Summary for ZFAND5 Gene

ZFAND5 (Zinc Finger AN1-Type Containing 5) is a Protein Coding gene. Diseases associated with ZFAND5 include Deafness, Autosomal Recessive 7. Among its related pathways are FoxO family signaling. An important paralog of this gene is ZFAND6.

UniProtKB/Swiss-Prot Summary for ZFAND5 Gene

  • Involved in protein degradation via the ubiquitin-proteasome system. May act by anchoring ubiquitinated proteins to the proteasome. Plays a role in ubiquitin-mediated protein degradation during muscle atrophy. Plays a role in the regulation of NF-kappa-B activation and apoptosis. Inhibits NF-kappa-B activation triggered by overexpression of RIPK1 and TRAF6 but not of RELA. Inhibits also tumor necrosis factor (TNF), IL-1 and TLR4-induced NF-kappa-B activation in a dose-dependent manner. Overexpression sensitizes cells to TNF-induced apoptosis. Is a potent inhibitory factor for osteoclast differentiation.

Additional gene information for ZFAND5 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZFAND5 Gene

Genomics for ZFAND5 Gene

GeneHancer (GH) Regulatory Elements for ZFAND5 Gene

Promoters and enhancers for ZFAND5 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
GH09J072359 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 507.6 +2.2 2172 7.9 EP300 TCF12 SIN3A USF1 POLR2G SP1 NCOR1 GTF2E2 JUND PHF8 ZFAND5 TMC1 LINC01504 ANXA1 lnc-GDA-7 lnc-C9orf57-4 lnc-ZFAND5-1 RF00017-7623 RF00017-7622
GH09J072396 Enhancer 1 Ensembl ENCODE 19.4 -30.4 -30354 5.6 TCF12 NCOR1 FOS ZNF10 TCF7 SKI TEAD1 FOXA2 SAP130 FOSL2 ZFAND5 TMC1 LINC01504 piR-48373-026 piR-43106-205
GH09J072538 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 12.3 -176.0 -175986 4.9 TCF12 USF1 JUND HES1 MYC EP300 TAF9B RBM25 MIER1 HDAC3 ZFAND5 TMC1 LINC01474 piR-33804-151 lnc-ZFAND5-5 lnc-TMC1-1
GH09J072575 Promoter/Enhancer 1.2 Ensembl ENCODE 10.6 -214.1 -214128 7.4 TCF12 JUND FOS PHB2 ZNF10 CUX1 MYC EP300 NCOR1 NEUROD1 lnc-GDA-5 TMC1 ZFAND5 LINC01474 LOC101927191 lnc-ZFAND5-5 piR-55985-201
GH09J072304 Promoter/Enhancer 1.1 Ensembl ENCODE 11.5 +59.5 59544 3.4 MYC POLR2A SP2 MYNN GABPA MAX SPI1 ZFHX2 SIN3A MAFK LINC01504 ZFAND5 TMC1 piR-55985-200 RF00017-7623 RF00017-7622
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZFAND5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZFAND5

Top Transcription factor binding sites by QIAGEN in the ZFAND5 gene promoter:
  • AP-2gamma
  • Egr-1
  • Egr-4
  • Lmo2
  • POU2F1
  • POU2F1a
  • Sox9
  • TBP
  • TFIID

Genomic Locations for ZFAND5 Gene

Genomic Locations for ZFAND5 Gene
chr9:72,351,413-72,365,247
(GRCh38/hg38)
Size:
13,835 bases
Orientation:
Minus strand
chr9:74,966,341-74,980,163
(GRCh37/hg19)
Size:
13,823 bases
Orientation:
Minus strand

Genomic View for ZFAND5 Gene

Genes around ZFAND5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZFAND5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZFAND5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZFAND5 Gene

Proteins for ZFAND5 Gene

  • Protein details for ZFAND5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O76080-ZFAN5_HUMAN
    Recommended name:
    AN1-type zinc finger protein 5
    Protein Accession:
    O76080
    Secondary Accessions:
    • A8K484

    Protein attributes for ZFAND5 Gene

    Size:
    213 amino acids
    Molecular mass:
    23132 Da
    Quaternary structure:
    • Interacts with ubiquitin and polyubiquitinated proteins. Identified in a heterotrimeric complex with ubiquitin and SQSTM1, where ZFAND5 and SQSTM1 both interact with the same ubiquitin molecule (By similarity). Homooligomer and/or heterooligomer. Interacts (via A20-type domain) with IKBKG and RIPK1 and with TRAF6 (via AN1-type domain).

neXtProt entry for ZFAND5 Gene

Post-translational modifications for ZFAND5 Gene

  • Ubiquitination at Lys86, Lys183, and Lys191
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ZFAND5 Gene

Domains & Families for ZFAND5 Gene

Gene Families for ZFAND5 Gene

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

Protein Domains for ZFAND5 Gene

Blocks:
  • Zn-finger, AN1-like
  • Zn-finger, A20-like
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ZFAND5 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger, AN1-type domain 5 (Q5QPB1_HUMAN)
  • Zinc finger protein 216 (ZFAN5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O76080

UniProtKB/Swiss-Prot:

ZFAN5_HUMAN :
  • The A20-type zinc finger directly binds polyubiquitin chains and associates with the 26S proteasome. The zinc-finger A20-type domain is essential for inhibition of NF-kappa-B activation (By similarity).
Domain:
  • The A20-type zinc finger directly binds polyubiquitin chains and associates with the 26S proteasome. The zinc-finger A20-type domain is essential for inhibition of NF-kappa-B activation (By similarity).
genes like me logo Genes that share domains with ZFAND5: view

Function for ZFAND5 Gene

Molecular function for ZFAND5 Gene

UniProtKB/Swiss-Prot Function:
Involved in protein degradation via the ubiquitin-proteasome system. May act by anchoring ubiquitinated proteins to the proteasome. Plays a role in ubiquitin-mediated protein degradation during muscle atrophy. Plays a role in the regulation of NF-kappa-B activation and apoptosis. Inhibits NF-kappa-B activation triggered by overexpression of RIPK1 and TRAF6 but not of RELA. Inhibits also tumor necrosis factor (TNF), IL-1 and TLR4-induced NF-kappa-B activation in a dose-dependent manner. Overexpression sensitizes cells to TNF-induced apoptosis. Is a potent inhibitory factor for osteoclast differentiation.

Phenotypes From GWAS Catalog for ZFAND5 Gene

Gene Ontology (GO) - Molecular Function for ZFAND5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 16424905
GO:0008270 zinc ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZFAND5: view
genes like me logo Genes that share phenotypes with ZFAND5: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ZFAND5

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZFAND5

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZFAND5 Gene

Localization for ZFAND5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZFAND5 Gene

Cytoplasm.

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 ZFAND5 gene
Compartment Confidence
nucleus 4
cytosol 3
extracellular 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for ZFAND5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with ZFAND5: view

Pathways & Interactions for ZFAND5 Gene

PathCards logo

SuperPathways for ZFAND5 Gene

SuperPathway Contained pathways
1 FoxO family signaling
genes like me logo Genes that share pathways with ZFAND5: view

Pathways by source for ZFAND5 Gene

1 BioSystems pathway for ZFAND5 Gene

Gene Ontology (GO) - Biological Process for ZFAND5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0001944 vasculature development IEA --
GO:0003016 respiratory system process IEA --
GO:0008150 biological_process ND --
GO:0010761 fibroblast migration IEA --
genes like me logo Genes that share ontologies with ZFAND5: view

No data available for SIGNOR curated interactions for ZFAND5 Gene

Drugs & Compounds for ZFAND5 Gene

No Compound Related Data Available

Transcripts for ZFAND5 Gene

mRNA/cDNA for ZFAND5 Gene

6 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
8 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 ZFAND5

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZFAND5 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c
SP1: -
SP2:
SP3: - -

Relevant External Links for ZFAND5 Gene

GeneLoc Exon Structure for
ZFAND5

Expression for ZFAND5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZFAND5 Gene

mRNA differential expression in normal tissues according to GTEx for ZFAND5 Gene

This gene is overexpressed in Muscle - Skeletal (x4.7).

Protein differential expression in normal tissues from HIPED for ZFAND5 Gene

This gene is overexpressed in Breast (65.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZFAND5 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZFAND5

SOURCE GeneReport for Unigene cluster for ZFAND5 Gene:

Hs.406096

mRNA Expression by UniProt/SwissProt for ZFAND5 Gene:

O76080-ZFAN5_HUMAN
Tissue specificity: Highly expressed in skeletal muscle. Expressed in fetal cochlea. Also expressed in infant brain, fetal heart, pancreatic islet, melanocyte, pineal gland, placenta, corneal stroma, and parathyroid tumor. Weakly expressed or undetectable in adult brain, heart, colon, thymus, spleen, kidney, liver, small intestine, placenta, lung and peripheral blood leukocytes. Expressed in rhabdomyosarcoma RD cells (at protein level).

Evidence on tissue expression from TISSUES for ZFAND5 Gene

  • Nervous system(4.8)
  • Lung(4.7)
  • Eye(4.5)
  • Skin(4.5)
  • Kidney(2.4)
  • Liver(2.4)
  • Muscle(2.4)
  • Adrenal gland(2.2)
  • Bone marrow(2.2)
genes like me logo Genes that share expression patterns with ZFAND5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZFAND5 Gene

Orthologs for ZFAND5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ZFAND5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZFAND5 30
  • 100 (n)
dog
(Canis familiaris)
Mammalia ZFAND5 31 30
  • 97.18 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ZFAND5 31 30
  • 97.18 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ZFAND5 31
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Zfand5 17 31 30
  • 96.71 (n)
rat
(Rattus norvegicus)
Mammalia Zfand5 30
  • 96.46 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ZFAND5 31
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZFAND5 31 30
  • 89.26 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ZFAND5 31
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zfand5 30
  • 82.94 (n)
Str.6493 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.12007 30
zebrafish
(Danio rerio)
Actinopterygii zfand5b 31 30
  • 68.25 (n)
OneToMany
zfand5a 31
  • 65 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG43674 31
  • 40 (a)
ManyToMany
CG15368 31
  • 26 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea CELE_F22D6.2 30
  • 49.91 (n)
F22D6.2 31
  • 42 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os03g0793000 30
  • 49.2 (n)
sea squirt
(Ciona savignyi)
Ascidiacea Cin.11284 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11284 30
Species where no ortholog for ZFAND5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 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)
  • wheat (Triticum aestivum)

Evolution for ZFAND5 Gene

ENSEMBL:
Gene Tree for ZFAND5 (if available)
TreeFam:
Gene Tree for ZFAND5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZFAND5: view image

Paralogs for ZFAND5 Gene

Paralogs for ZFAND5 Gene

(2) SIMAP similar genes for ZFAND5 Gene using alignment to 2 proteins:

  • ZFAN5_HUMAN
  • Q5QPB1_HUMAN

Pseudogenes.org Pseudogenes for ZFAND5 Gene

genes like me logo Genes that share paralogs with ZFAND5: view

Variants for ZFAND5 Gene

Additional dbSNP identifiers (rs#s) for ZFAND5 Gene

Structural Variations from Database of Genomic Variants (DGV) for ZFAND5 Gene

Variant ID Type Subtype PubMed ID
nsv951527 CNV duplication 24416366

Variation tolerance for ZFAND5 Gene

Residual Variation Intolerance Score: 51.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.02; 0.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZFAND5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZFAND5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZFAND5 Gene

Disorders for ZFAND5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ZFAND5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
deafness, autosomal recessive 7
  • dfnb7
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ZFAND5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ZFAND5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZFAND5 Gene

Publications for ZFAND5 Gene

  1. Identification and mutation analysis of a cochlear-expressed, zinc finger protein gene at the DFNB7/11 and dn hearing-loss loci on human chromosome 9q and mouse chromosome 19. (PMID: 9758550) Scott DA … Sheffield VC (Gene 1998) 2 3 4 54
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 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. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 54
  5. ZNF216 Is an A20-like and IkappaB kinase gamma-interacting inhibitor of NFkappaB activation. (PMID: 14754897) Huang J … Shu HB (The Journal of biological chemistry 2004) 3 4 54

Products for ZFAND5 Gene

Sources for ZFAND5 Gene