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The protein encoded by this gene enhances transcriptional activation by ligand-bound nuclear hormone receptors. However, it does this not by direct interaction with the receptor, but by direct interaction with the nuclear hormone receptor transcriptional coactivator NRC. The encoded protein may function by altering local chromatin structure. [provided by RefSeq, Jul 2008] See more...
Aliases for ZNF335 Gene
Aliases for ZNF335 Gene
External Ids for ZNF335 Gene
- HGNC: 15807
- Entrez Gene: 63925
- Ensembl: ENSG00000198026
- OMIM: 610827
- UniProtKB: Q9H4Z2
Previous GeneCards Identifiers for ZNF335 Gene
- GC20M044305
- GC20M045215
- GC20M045262
- GC20M044010
- GC20M044577
- GC20M041318
Summaries for ZNF335 Gene
-
The protein encoded by this gene enhances transcriptional activation by ligand-bound nuclear hormone receptors. However, it does this not by direct interaction with the receptor, but by direct interaction with the nuclear hormone receptor transcriptional coactivator NRC. The encoded protein may function by altering local chromatin structure. [provided by RefSeq, Jul 2008]
GeneCards Summary for ZNF335 Gene
ZNF335 (Zinc Finger Protein 335) is a Protein Coding gene. Diseases associated with ZNF335 include Microcephaly 10, Primary, Autosomal Recessive and Microcephaly 16, Primary, Autosomal Recessive. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Developmental Biology. Gene Ontology (GO) annotations related to this gene include transcription regulatory region DNA binding and RNA polymerase II core promoter sequence-specific DNA binding. An important paralog of this gene is ZFP64.
UniProtKB/Swiss-Prot Summary for ZNF335 Gene
-
Component or associated component of some histone methyltransferase complexes may regulate transcription through recruitment of those complexes on gene promoters (PubMed:19131338, PubMed:23178126). Enhances ligand-dependent transcriptional activation by nuclear hormone receptors (PubMed:12215545, PubMed:18180299, PubMed:19131338). Plays an important role in neural progenitor cell proliferation and self-renewal through the regulation of specific genes involved brain development, including REST (PubMed:23178126). Also controls the expression of genes involved in somatic development and regulates, for instance, lymphoblast proliferation (PubMed:23178126).
Additional gene information for ZNF335 Gene
- HGNC(15807)
- Entrez Gene(63925)
- Ensembl(ENSG00000198026)
- OMIM(610827)
- UniProtKB(Q9H4Z2)
- Open Targets Platform(ENSG00000198026)
- Monarch Initiative
- Search for ZNF335 at DataMed
- Search for ZNF335 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZNF335 Gene
Genomics for ZNF335 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ZNF335 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ZNF335 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZNF335
- Top Transcription factor binding sites by QIAGEN in the ZNF335 gene promoter:
-
- AP-1
- ATF-2
- c-Jun
- CREB
- deltaCREB
- NF-kappaB
- NF-kappaB1
- NF-kappaB2
- RelA
Genomic Locations for ZNF335 Gene
Genomic Locations for ZNF335 Gene
- chr20:45,948,653-45,972,910
- (GRCh38/hg38)
- Size:
- 24,258 bases
- Orientation:
- Minus strand
- chr20:44,577,292-44,600,833
- (GRCh37/hg19)
- Size:
- 23,542 bases
- Orientation:
- Minus strand
Genomic View for ZNF335 Gene
Genes around ZNF335 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 20q13.12 by HGNC
- 20q13.12 by Entrez Gene
- 20q13.12 by Ensembl
ZNF335 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 ZNF335 Gene
Proteins for ZNF335 Gene
-
Protein details for ZNF335 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9H4Z2-ZN335_HUMAN
- Recommended name:
- Zinc finger protein 335
- Protein Accession:
- Q9H4Z2
- B4DLG7
- Q548D0
- Q9H684
Protein attributes for ZNF335 Gene
- Size:
- 1342 amino acids
- Molecular mass:
- 144893 Da
- Quaternary structure:
-
- Interacts with NCOA6; may enhance ligand-dependent transcriptional activation by nuclear hormone receptors (PubMed:12215545). Interacts with CNOT6 (PubMed:18180299). Interacts with CNOT9; the interaction is direct (PubMed:18180299). Component of a nuclear receptor-mediated transcription complex composed of at least ZNF335, CCAR2 and EMSY; the complex stimulates the transcription of nuclear receptor target genes such as SOX9 and HOXA1 (PubMed:19131338). Within the complex interacts with EMSY and interacts (via C-terminus) with CCAR2 (PubMed:19131338). Interacts with members of histone H3'Lys4'(H3K4) methyltransferase complexes ASCL2, CXXC1, KMT2A/MLL1, RBBP5, SETD1A and WDR5 (PubMed:23178126). Component of a histone methylation complex composed of at least ZNF335, RBBP5, ASH2L and WDR5; the complex may have histone H3-specific methyltransferase activity, however does not have specificity for 'Lys-4' of histone H3 (PubMed:19131338). Interacts with RBBP5 and WDR5 (PubMed:19131338). Interacts with ASHL2 (PubMed:19131338). Components of this complex may associate with components of the ZNF335-CCAR2-EMSY nuclear receptor-mediated transcription complex to form a complex at least composed of ZNF335, HCFC1, CCAR2, EMSY, MKI67, RBBP5, ASH2L and WDR5 (PubMed:19131338). Within this complex also interacts with HCFC1 and MKI67 (PubMed:19131338).
- SequenceCaution:
-
- Sequence=BAB15379.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for ZNF335 Gene
Post-translational modifications for ZNF335 Gene
Other Protein References for ZNF335 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for ZNF335
- Novus Biologicals Antibodies for ZNF335
-
Abcam antibodies for ZNF335
- Invitrogen Antibodies for ZNF335 (AFLGC-ZNF335)
-
Boster Bio Antibodies for ZNF335
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ZNF335
- Origene Custom Protein Services for ZNF335
- Novus Biologicals proteins for ZNF335
-
Signalway Proteins for ZNF335
Assay Products
- antibodies-online: Show 10 available ZNF335 Elisa Kits ranked by validation data
- Compare Top ZNF335 Elisa Kits
-
Quality Products:
-
Signalway ELISA kits for ZNF335
No data available for DME Specific Peptides for ZNF335 Gene
Domains & Families for ZNF335 Gene
Gene Families for ZNF335 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Transcription factors
Protein Domains for ZNF335 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ZNF335 Gene
- GenScript: Design optimal peptide antigens:
-
- ZNF335 protein (Q8IW09_HUMAN)
- NRC-interacting factor 1 (ZN335_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9H4Z2- Family:
-
- Belongs to the krueppel C2H2-type zinc-finger protein family.
Function for ZNF335 Gene
Molecular function for ZNF335 Gene
- UniProtKB/Swiss-Prot Function:
- Component or associated component of some histone methyltransferase complexes may regulate transcription through recruitment of those complexes on gene promoters (PubMed:19131338, PubMed:23178126). Enhances ligand-dependent transcriptional activation by nuclear hormone receptors (PubMed:12215545, PubMed:18180299, PubMed:19131338). Plays an important role in neural progenitor cell proliferation and self-renewal through the regulation of specific genes involved brain development, including REST (PubMed:23178126). Also controls the expression of genes involved in somatic development and regulates, for instance, lymphoblast proliferation (PubMed:23178126).
Phenotypes From GWAS Catalog for ZNF335 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000976 | transcription regulatory region sequence-specific DNA binding | ISS | -- |
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA,IBA | 21873635 |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
| GO:0003676 | nucleic acid binding | IEA | -- |
| GO:0003677 | DNA binding | IEA | -- |
Phenotypes for ZNF335 Gene
- MGI mutant phenotypes for ZNF335:
- inferred from 7 alleles
- GenomeRNAi human phenotypes for ZNF335:
Animal Models for ZNF335 Gene
- MGI Knock Outs for ZNF335:
-
- Zfp335 Zfp335<tm1.2Caw>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ZNF335 - Select products 50% OFF >
- * ZNF335 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ZNF335
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ZNF335
-
Santa Cruz Biotechnology (SCBT) CRISPR for ZNF335
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ZNF335
- Browse OriGene Inhibitory RNA Products For ZNF335
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF335
Clone Products
- Applied Biological Materials (abm): Clones for ZNF335 - Select products 50% OFF >
- * ZNF335 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ZNF335
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ZNF335
No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for ZNF335 Gene
Localization for ZNF335 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ZNF335 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 2 |
| cytoskeleton | 1 |
- Nucleoplasm (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IBA,ISS | -- |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0035097 | colocalizes_with histone methyltransferase complex | IEA,IDA | 23178126 |
Pathways & Interactions for ZNF335 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 | ||
| 2 | Developmental Biology | ||
Pathways by source for ZNF335 Gene
3 Reactome pathways for ZNF335 Gene
Interacting Proteins for ZNF335 Gene
GPS-Prot Interaction Network for ZNF335
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001701 | in utero embryonic development | IEA | -- |
| GO:0002052 | positive regulation of neuroblast proliferation | IEA,ISS | -- |
| GO:0006357 | regulation of transcription by RNA polymerase II | IEA | -- |
| GO:0007275 | multicellular organism development | IEA | -- |
| GO:0007420 | brain development | IEA,IMP | 23178126 |
No data available for SIGNOR curated interactions for ZNF335 Gene
Transcripts for ZNF335 Gene
mRNA/cDNA for ZNF335 Gene
- 1 REFSEQ mRNAs :
- 11 NCBI additional mRNA sequence :
- 4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000322927 4454 nts (view in UCSC)
- ENST00000475002 1721 nts (view in UCSC)
- ENST00000476822 1370 nts (view in UCSC)
- ENST00000494955 1893 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ZNF335 - Select products 50% OFF >
- * ZNF335 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ZNF335
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ZNF335
-
Santa Cruz Biotechnology (SCBT) CRISPR for ZNF335
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ZNF335
- Browse OriGene Inhibitory RNA Products For ZNF335
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF335
Clone Products
- Applied Biological Materials (abm): Clones for ZNF335 - Select products 50% OFF >
- * ZNF335 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ZNF335
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ZNF335
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | · | 4c | · | 4d | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | · | 10c | · | 10d | ^ | 11a | · | 11b | ^ |
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| SP20: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP21: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP22: |
| ExUns: | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16a | · | 16b | · | 16c | · | 16d | ^ | 17a | · | 17b | ^ | 18a | · | 18b | ^ | 19a | · | 19b | ^ | 20 | ^ | 21a | · | 21b | · | 21c | · | 21d | ^ | 22a | · | 22b | ^ | 23 | ^ | 24 | ^ | 25 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP21: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP22: |
| ExUns: | 26 | ^ | 27a | · | 27b | ^ | 28 | ^ | 29a | · | 29b |
|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||
| SP2: | |||||||||||
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| SP22: |
Relevant External Links for ZNF335 Gene
- GeneLoc Exon Structure for
- ZNF335
Expression for ZNF335 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Intermediate Mesoderm (Gastrulation Derivatives)
This gene is overexpressed in Blymphocyte (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZNF335 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZNF335
SOURCE GeneReport for Unigene cluster for ZNF335 Gene:
Hs.174193mRNA Expression by UniProt/SwissProt for ZNF335 Gene:
Q9H4Z2-ZN335_HUMAN
Tissue specificity:
Ubiquitously expressed.
Evidence on tissue expression from TISSUES for ZNF335 Gene
- Kidney(4.1)
- Liver(4.1)
- Nervous system(2.7)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ZNF335 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- chin
- eye
- face
- forehead
- head
- jaw
- mandible
- maxilla
- mouth
- nose
- pharynx
- skull
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for ZNF335
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues for ZNF335 Gene
Orthologs for ZNF335 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ZNF335 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ZNF335 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ZNF335 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Zfp335 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Zfp335 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | ZNF335 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ZNF335 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.27543 30 |
|
||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.1147 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC100148891 30 |
|
||
| ZNF335 31 |
|
OneToOne |
- Species where no ortholog for ZNF335 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- Platypus (Ornithorhynchus anatinus)
- 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)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for ZNF335 Gene
- ENSEMBL:
- Gene Tree for ZNF335 (if available)
- TreeFam:
- Gene Tree for ZNF335 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ZNF335: view image
Paralogs for ZNF335 Gene
Variants for ZNF335 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZNF335 Gene
| SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 638420 | Uncertain Significance: Primary autosomal recessive microcephaly 10 | 45,969,658(-) | G/A | MISSENSE_VARIANT | |
| 709516 | Benign: not provided | 45,971,308(-) | C/A | MISSENSE_VARIANT | |
| 712868 | Benign: not provided | 45,952,350(-) | T/C | MISSENSE_VARIANT | |
| 716509 | Benign: not provided | 45,950,068(-) | A/G | SYNONYMOUS_VARIANT | |
| 718966 | Likely Benign: not provided | 45,969,488(-) | C/T | SYNONYMOUS_VARIANT |
Residual Variation Intolerance Score:
2.41% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.56;
65.04% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ZNF335 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNF335 Gene
Disorders for ZNF335 Gene
(22) MalaCards diseases for ZNF335 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| microcephaly 10, primary, autosomal recessive |
|
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| microcephaly 16, primary, autosomal recessive |
|
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| primary autosomal recessive microcephaly |
|
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| microcephaly 15, primary, autosomal recessive |
|
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| microcephaly 13, primary, autosomal recessive |
|
|
Search ZNF335 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ZN335_HUMAN- Microcephaly 10, primary, autosomal recessive (MCPH10) [MIM:615095]: A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH10 is characterized by extremely small head size and death usually by 1 year of age. Neuropathologic examination shows severe loss of neurons as well as neuronal loss of polarity and abnormal dendritic maturation. {ECO:0000269 PubMed:23178126}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for ZNF335
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for ZNF335 Gene
Publications for ZNF335 Gene
- Identification and characterization of a novel nuclear protein complex involved in nuclear hormone receptor-mediated gene regulation. (PMID: 19131338) Garapaty S … Samuels HH (The Journal of biological chemistry 2009) 2 3 4 23
- NRC-interacting factor 1 is a novel cotransducer that interacts with and regulates the activity of the nuclear hormone receptor coactivator NRC. (PMID: 12215545) Mahajan MA … Samuels HH (Molecular and cellular biology 2002) 2 3 4 23
- Components of the CCR4-NOT complex function as nuclear hormone receptor coactivators via association with the NRC-interacting Factor NIF-1. (PMID: 18180299) Garapaty S … Samuels HH (The Journal of biological chemistry 2008) 3 4 23
- Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation. (PMID: 23178126) Yang YJ … Walsh CA (Cell 2012) 3 4
- 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 41
ExternalLinks
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