Aliases for ZNF592 Gene
Aliases for ZNF592 Gene
External Ids for ZNF592 Gene
- HGNC: 28986
- Entrez Gene: 9640
- Ensembl: ENSG00000166716
- OMIM: 613624
- UniProtKB: Q92610
Previous HGNC Symbols for ZNF592 Gene
- SCAR5
Previous GeneCards Identifiers for ZNF592 Gene
- GC15P083022
- GC15P083092
- GC15P085291
- GC15P061393
Summaries for ZNF592 Gene
-
This gene is thought to play a role in a complex developmental pathway and the regulation of genes involved in cerebellar development. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia. [provided by RefSeq, Jan 2011]
GeneCards Summary for ZNF592 Gene
ZNF592 (Zinc Finger Protein 592) is a Protein Coding gene. Diseases associated with ZNF592 include Galloway-Mowat Syndrome and Spinocerebellar Ataxia Autosomal Recessive 5. An important paralog of this gene is ZNF532.
UniProtKB/Swiss-Prot for ZNF592 Gene
-
May be involved in transcriptional regulation.
Additional gene information for ZNF592 Gene
- Monarch Initiative
- Search for ZNF592 at DataMed
- Search for ZNF592 at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZNF592 Gene
Genomics for ZNF592 Gene
GeneHancer (GH) Regulatory Elements for ZNF592 Gene
Promoters and enhancers for ZNF592 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around ZNF592 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the ZNF592 gene promoter:
Regulatory Element Products
Genomic Locations for ZNF592 Gene
Genomic Locations for ZNF592 Gene
- chr15:84,748,561-84,806,432
- (GRCh38/hg38)
- Size:
- 57,872 bases
- Orientation:
- Plus strand
- chr15:85,291,818-85,349,663
- (GRCh37/hg19)
Genomic View for ZNF592 Gene
Genes around ZNF592 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 15q25.3 by Entrez Gene
- 15q25.2 by HGNC
- 15q25.3 by Ensembl
ZNF592 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ZNF592 Gene
Proteins for ZNF592 Gene
-
Protein details for ZNF592 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q92610-ZN592_HUMAN
- Recommended name:
- Zinc finger protein 592
- Protein Accession:
- Q92610
- Q2M1T2
- Q504Y9
Protein attributes for ZNF592 Gene
- Size:
- 1267 amino acids
- Molecular mass:
- 137528 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=BAA13202.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Protein Expression for ZNF592 Gene
Post-translational modifications for ZNF592 Gene
Other Protein References for ZNF592 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for ZNF592
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- GeneTex ZNF592 Antibody for ZNF592
-
Boster Bio Antibodies for ZNF592
Protein Products
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- antibodies-online: Search results for 2 available ZNF592 Proteins ranked by validation data
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-
Quality Products:
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Assay Products
No data available for DME Specific Peptides for ZNF592 Gene
Domains & Families for ZNF592 Gene
Gene Families for ZNF592 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Transcription factors
Protein Domains for ZNF592 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for ZNF592 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q92610- Family:
-
- Belongs to the krueppel C2H2-type zinc-finger protein family.
Function for ZNF592 Gene
Molecular function for ZNF592 Gene
- UniProtKB/Swiss-Prot Function:
- May be involved in transcriptional regulation.
Phenotypes From GWAS Catalog for ZNF592 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding | ISA | -- |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 25416956 |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for ZNF592 Gene
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-
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-
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-
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miRNA for ZNF592 Gene
- miRTarBase miRNAs that target ZNF592
-
- hsa-mir-125b-5p (MIRT045934)
- hsa-mir-10a-5p (MIRT047653)
- hsa-mir-6738-3p (MIRT648329)
- hsa-mir-8081 (MIRT648330)
- hsa-mir-3064-3p (MIRT648331)
- hsa-mir-4727-5p (MIRT648332)
- hsa-mir-6817-5p (MIRT648333)
- hsa-mir-4769-3p (MIRT648334)
- hsa-mir-4277 (MIRT648335)
- hsa-mir-6874-3p (MIRT648336)
- hsa-mir-148b-5p (MIRT648337)
miRNA Products
Inhibitory RNA Products
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Clone Products
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-
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- Mammalian expression: PiggyBac
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- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ZNF592
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for ZNF592
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ZNF592 Gene
Localization for ZNF592 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ZNF592 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
Pathways & Interactions for ZNF592 Gene
No Data Available
Interacting Proteins for ZNF592 Gene
Selected Interacting proteins:
Q92610-ZN592_HUMAN
ENSP00000299927
for ZNF592 Gene via
IID
MINT
STRING
UniProtKB
GPS-Prot Interaction Network for ZNF592
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0006357 | regulation of transcription by RNA polymerase II | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for ZNF592 Gene
Transcripts for ZNF592 Gene
mRNA/cDNA for ZNF592 Gene
- (175) Selected AceView cDNA sequences:
- (7) Additional mRNA sequences :
- (6) REFSEQ mRNAs :
- (4) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000299927 7863 bps (uc059mth.1)
- ENST00000559607 3910 bps (uc059mtg.1)
- ENST00000560079 8131 bps (uc002bld.4)
- ENST00000618477 208 bps (uc059mti.1)
Unigene Clusters for ZNF592 Gene
- Zinc finger protein 592:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for ZNF592
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ZNF592
- GenScript: Design CRISPR guide RNA sequences for ZNF592
miRNA Products
Inhibitory RNA Products
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Clone Products
- VectorBuilder custom plasmid, inducible vectors for ZNF592
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ZNF592
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ZNF592
- genomics-online: cdna clones - Search results for available ZNF592 gene related products
- orf clones - Search results for available ZNF592 gene related products
- Applied Biological Materials Clones for ZNF592
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for ZNF592 Gene
This gene is overexpressed in Blymphocyte (15.1), Peripheral blood mononuclear cells (14.5), CD8 Tcells (11.9), and Lymph node (6.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZNF592 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of ZNF592 Gene:
ZNF592SOURCE GeneReport for Unigene cluster for ZNF592 Gene:
Hs.79347mRNA Expression by UniProt/SwissProt for ZNF592 Gene:
Q92610-ZN592_HUMAN
Tissue specificity:
Widely expressed, with highest levels in skeletal muscle. Expressed throughout the central nervous system, including in the cerebellum and cerebellar vermis, with higher expression in the substantia nigra. Widely expressed in fetal tissues.
Evidence on tissue expression from TISSUES for ZNF592 Gene
- Adrenal gland(5)
- Nervous system(4.6)
- Bone marrow(4.2)
- Liver(4.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ZNF592 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- nervous
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- ear
- eye
- head
- skull
Thorax:
- heart
- heart valve
Abdomen:
- intestine
- large intestine
- small intestine
Pelvis:
- prostate
- urinary bladder
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- peripheral nerve
- peripheral nervous system
- skin
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for ZNF592
- genomics-online: primer clones - Search results for available ZNF592 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ZNF592 Gene
Orthologs for ZNF592 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ZNF592 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ZNF592 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Zfp592 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Zfp592 16 34 33 |
|
||
| cow (Bos Taurus) |
Mammalia | ZNF592 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | ZNF592 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| chicken (Gallus gallus) |
Aves | ZNF592 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ZNF592 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | znf592 33 |
|
||
| Str.9091 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68936 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | znf592 34 33 |
|
OneToOne | |
| wufj94a04 33 |
|
||||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for ZNF592 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)
- 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 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)
- worm (Caenorhabditis elegans)
Evolution for ZNF592 Gene
- ENSEMBL:
- Gene Tree for ZNF592 (if available)
- TreeFam:
- Gene Tree for ZNF592 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ZNF592: view image
Paralogs for ZNF592 Gene
Variants for ZNF592 Gene
| SNP ID | Clin | Chr 15 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs150829393 | uncertain-significance, Galloway-Mowat syndrome | 84,799,209(+) | G/A | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs2241645 | likely-benign, not specified | 84,790,722(+) | A/G | coding_sequence_variant, non_coding_transcript_variant, synonymous_variant | |
| rs8182086 | likely-benign, not specified | 84,798,628(+) | G/A | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs143880466 | uncertain-significance, not specified | 84,784,293(+) | C/T | coding_sequence_variant, non_coding_transcript_variant, synonymous_variant | |
| rs1000096954 | -- | 84,785,625(+) | T/C | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2672879 | CNV | deletion | 23128226 |
| esv2760049 | CNV | loss | 17122850 |
| esv29903 | CNV | loss | 19812545 |
| nsv1071230 | CNV | deletion | 25765185 |
| nsv517833 | CNV | gain | 19592680 |
Residual Variation Intolerance Score:
3.04% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
13.10;
95.10% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ZNF592 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNF592 Gene
Disorders for ZNF592 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| galloway-mowat syndrome |
|
|
| spinocerebellar ataxia autosomal recessive 5 |
|
|
| galloway-mowat syndrome 1 |
|
|
| dyscalculia |
|
|
| cervical adenosquamous carcinoma |
|
|
Search ZNF592 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for ZNF592
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for ZNF592 Gene
Publications for ZNF592 Gene
- CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592. (PMID: 20531441) Nicolas E … Delague V (European journal of human genetics : EJHG 2010) 2 3 4 58
- Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PMID: 9039502) Nagase T … Nomura N (DNA research : an international journal for rapid publication of reports on genes and genomes 1996) 2 3 4 58
- Genome-wide association study identifies GPC5 as a novel genetic locus protective against sudden cardiac arrest. (PMID: 20360844) Arking DE … Chugh SS (PloS one 2010) 3 44 58
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
- 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 58
Products for ZNF592 Gene
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- Mammalian expression: PiggyBac
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- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 38 available ZNF592 Antibodies ranked by validation data
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Sources for ZNF592 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
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