Aliases for ZBTB18 Gene
Aliases for ZBTB18 Gene
External Ids for ZBTB18 Gene
- HGNC: 13030
- Entrez Gene: 10472
- Ensembl: ENSG00000179456
- OMIM: 608433
- UniProtKB: Q99592
Previous HGNC Symbols for ZBTB18 Gene
- ZNF238
Previous GeneCards Identifiers for ZBTB18 Gene
- GC01P244216
Summaries for ZBTB18 Gene
-
This gene encodes a C2H2-type zinc finger protein which acts a transcriptional repressor of genes involved in neuronal development. The encoded protein recognizes a specific sequence motif and recruits components of chromatin to target genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
GeneCards Summary for ZBTB18 Gene
ZBTB18 (Zinc Finger And BTB Domain Containing 18) is a Protein Coding gene. Diseases associated with ZBTB18 include Mental Retardation, Autosomal Dominant 22 and Retinitis Pigmentosa 58. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is ENSG00000254553.
UniProtKB/Swiss-Prot for ZBTB18 Gene
-
Transcriptional repressor that plays a role in various developmental processes such as myogenesis and brain development. Plays a key role in myogenesis by directly repressing the expression of ID2 and ID3, 2 inhibitors of skeletal myogenesis. Also involved in controlling cell division of progenitor cells and regulating the survival of postmitotic cortical neurons. Specifically binds the consensus DNA sequence 5-[AC]ACATCTG[GT][AC]-3 which contains the E box core, and acts by recruiting chromatin remodeling multiprotein complexes. May also play a role in the organization of chromosomes in the nucleus.
No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZBTB18 Gene
Genomics for ZBTB18 Gene
Regulatory Elements for ZBTB18 Gene
Enhancers for ZBTB18 Gene
| GeneHancer Identifier | Score | Enhancer Sources | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Other Gene Targets for Enhancer |
|---|
Enhancers around ZBTB18 on UCSC Golden Path with GeneCards custom track
Promoters for ZBTB18 Gene
| Ensembl Regulatory Elements (ENSRs) | TSS Distance (bp) | Size (bp) | Binding Sites for Transcription Factors within promoters |
|---|
ENSRs around ZBTB18 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for ZBTB18 Gene
- Chromosome:
- 1
- Start:
- 244,048,939 bp from pter
- End:
- 244,057,476 bp from pter
- Size:
- 8,538 bases
- Orientation:
- Plus strand
Genomic View for ZBTB18 Gene
Genes around ZBTB18 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q44 by Ensembl
- 1q44 by Entrez Gene
- 1q44 by HGNC
ZBTB18 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 ZBTB18 Gene
Proteins for ZBTB18 Gene
-
Protein details for ZBTB18 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q99592-ZBT18_HUMAN
- Recommended name:
- Zinc finger and BTB domain-containing protein 18
- Protein Accession:
- Q99592
- A8K5U3
- Q13397
- Q5VU40
- Q8N463
- Q9UD99
Protein attributes for ZBTB18 Gene
- Size:
- 522 amino acids
- Molecular mass:
- 58354 Da
- Quaternary structure:
-
- Interacts with DNMT3A.
Protein Expression for ZBTB18 Gene
Post-translational modifications for ZBTB18 Gene
Other Protein References for ZBTB18 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for ZBTB18
- Invitrogen Antibodies for ZBTB18
- antibodies-online Antibodies for ZBTB18: See all 20
- GeneTex Ctsb antibody for ZBTB18
-
Santa Cruz Biotechnology (SCBT) Antibodies for ZBTB18
Protein Products
-
OriGene Purified Proteins for ZBTB18
- Search Origene for MassSpec and Protein Over-expression Lysates for ZBTB18
- Origene Custom Protein Services for ZBTB18
- antibodies-online Proteins for ZBTB18: See all 7
- Search antibodies-online for peptides
- Search GeneTex for Proteins for ZBTB18
Assay Products
No data available for DME Specific Peptides for ZBTB18 Gene
Domains & Families for ZBTB18 Gene
Gene Families for ZBTB18 Gene
Protein Domains for ZBTB18 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for ZBTB18 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q99592UniProtKB/Swiss-Prot:
ZBT18_HUMAN :- Contains 1 BTB (POZ) domain.
- Belongs to the krueppel C2H2-type zinc-finger protein family. ZBTB18 subfamily.
- Contains 4 C2H2-type zinc fingers.
- Domain:
-
- Contains 1 BTB (POZ) domain.
- Family:
-
- Belongs to the krueppel C2H2-type zinc-finger protein family. ZBTB18 subfamily.
- Similarity:
-
- Contains 4 C2H2-type zinc fingers.
Function for ZBTB18 Gene
Molecular function for ZBTB18 Gene
- UniProtKB/Swiss-Prot Function:
- Transcriptional repressor that plays a role in various developmental processes such as myogenesis and brain development. Plays a key role in myogenesis by directly repressing the expression of ID2 and ID3, 2 inhibitors of skeletal myogenesis. Also involved in controlling cell division of progenitor cells and regulating the survival of postmitotic cortical neurons. Specifically binds the consensus DNA sequence 5-[AC]ACATCTG[GT][AC]-3 which contains the E box core, and acts by recruiting chromatin remodeling multiprotein complexes. May also play a role in the organization of chromosomes in the nucleus.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IEA,IPI | 25416956 |
Phenotypes for ZBTB18 Gene
- MGI mutant phenotypes for ZBTB18:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for ZBTB18:
Animal Models for ZBTB18 Gene
- MGI Knock Outs for ZBTB18:
-
- Zbtb18 tm1Haok
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for ZBTB18 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ZBTB18 gene
- Search ViGene Biosciences for ZBTB18
CRISPR Products
-
OriGene CRISPR knockouts for ZBTB18
-
Santa Cruz Biotechnology (SCBT) CRISPR for ZBTB18
- GenScript: Design CRISPR guide RNA sequences for ZBTB18
miRNA for ZBTB18 Gene
- miRTarBase miRNAs that target ZBTB18
-
- hsa-mir-590-3p (MIRT016212)
- hsa-mir-548b-3p (MIRT016240)
- hsa-mir-128-3p (MIRT021920)
- hsa-mir-215-5p (MIRT024510)
- hsa-mir-192-5p (MIRT026265)
- hsa-mir-26b-5p (MIRT029041)
- hsa-mir-877-3p (MIRT036898)
- hsa-mir-106b-3p (MIRT038588)
- hsa-mir-17-5p (MIRT064794)
- hsa-mir-19a-3p (MIRT064795)
- hsa-mir-19b-3p (MIRT064796)
- hsa-mir-20a-5p (MIRT064797)
- hsa-mir-93-5p (MIRT064798)
- hsa-mir-106a-5p (MIRT064799)
- hsa-mir-130a-3p (MIRT064800)
- hsa-mir-106b-5p (MIRT064801)
- hsa-mir-301a-3p (MIRT064802)
- hsa-mir-130b-3p (MIRT064803)
- hsa-mir-20b-5p (MIRT064804)
- hsa-mir-519c-3p (MIRT064805)
- hsa-mir-526b-3p (MIRT064806)
- hsa-mir-519b-3p (MIRT064807)
- hsa-mir-519d-3p (MIRT064808)
- hsa-mir-519a-3p (MIRT064809)
- hsa-mir-454-3p (MIRT064810)
- hsa-mir-889-3p (MIRT064811)
- hsa-mir-301b-3p (MIRT064812)
- hsa-mir-4295 (MIRT064813)
- hsa-mir-3666 (MIRT064814)
- hsa-mir-4509 (MIRT064815)
- hsa-mir-4733-5p (MIRT064816)
- hsa-mir-4744 (MIRT064817)
- hsa-mir-548aw (MIRT064819)
- hsa-mir-1277-5p (MIRT064836)
- hsa-mir-5011-5p (MIRT064839)
- hsa-mir-101-5p (MIRT064840)
- hsa-mir-1301-3p (MIRT064841)
- hsa-mir-4660 (MIRT064842)
- hsa-mir-4720-3p (MIRT064843)
- hsa-mir-5047 (MIRT064845)
- hsa-mir-7156-3p (MIRT064846)
- hsa-mir-6083 (MIRT064855)
- hsa-mir-340-5p (MIRT064860)
- hsa-mir-629-5p (MIRT064861)
- hsa-mir-2113 (MIRT064862)
- hsa-mir-3622b-5p (MIRT064865)
- hsa-mir-4720-5p (MIRT064869)
- hsa-mir-4799-3p (MIRT064870)
- hsa-mir-5588-5p (MIRT064871)
- hsa-mir-6839-3p (MIRT064872)
- hsa-mir-8068 (MIRT064874)
- hsa-mir-4263 (MIRT064881)
- hsa-mir-2116-3p (MIRT064886)
- hsa-mir-3684 (MIRT064887)
- hsa-mir-4696 (MIRT064888)
- hsa-mir-4524b-3p (MIRT064889)
- hsa-mir-15a-3p (MIRT064904)
- hsa-mir-26a-5p (MIRT064905)
- hsa-mir-155-5p (MIRT064906)
- hsa-mir-577 (MIRT064908)
- hsa-mir-1297 (MIRT064910)
- hsa-mir-1250-3p (MIRT064911)
- hsa-mir-3922-5p (MIRT064912)
- hsa-mir-4465 (MIRT064913)
- hsa-mir-4753-5p (MIRT064916)
- hsa-mir-5695 (MIRT064917)
- hsa-mir-219a-5p (MIRT064918)
- hsa-mir-330-3p (MIRT064919)
- hsa-mir-4782-3p (MIRT064920)
- hsa-mir-6766-3p (MIRT064921)
- hsa-mir-6516-5p (MIRT064938)
- hsa-mir-26a-1-3p (MIRT135004)
- hsa-mir-190a-3p (MIRT135005)
- hsa-mir-26a-2-3p (MIRT135006)
- hsa-mir-3924 (MIRT135010)
- hsa-mir-921 (MIRT186552)
- hsa-mir-495-3p (MIRT248054)
- hsa-mir-1468-3p (MIRT248055)
- hsa-mir-548f-5p (MIRT248056)
- hsa-mir-548g-5p (MIRT248057)
- hsa-mir-548x-5p (MIRT248058)
- hsa-mir-548aj-5p (MIRT248059)
- hsa-mir-5688 (MIRT248061)
- hsa-mir-570-3p (MIRT259928)
- hsa-mir-4487 (MIRT273032)
- hsa-mir-1199-5p (MIRT273033)
- hsa-mir-6751-3p (MIRT273034)
- hsa-mir-143-5p (MIRT273035)
- hsa-mir-3944-5p (MIRT273036)
- hsa-mir-126-5p (MIRT273037)
- hsa-mir-4799-5p (MIRT273041)
- hsa-mir-505-3p (MIRT337481)
- hsa-mir-3121-3p (MIRT337484)
- hsa-mir-2115-3p (MIRT405375)
- hsa-mir-4697-3p (MIRT505079)
- hsa-mir-4445-5p (MIRT505080)
- hsa-mir-508-3p (MIRT505081)
- hsa-mir-622 (MIRT505082)
- hsa-mir-576-3p (MIRT505083)
- hsa-mir-223-3p (MIRT505084)
- hsa-mir-676-5p (MIRT505085)
- hsa-mir-6515-3p (MIRT505086)
- hsa-mir-5697 (MIRT505087)
- hsa-mir-5583-5p (MIRT505088)
- hsa-mir-3129-3p (MIRT505089)
- hsa-mir-4795-3p (MIRT542592)
- hsa-mir-656-3p (MIRT542593)
- hsa-mir-506-5p (MIRT545944)
- hsa-mir-892c-5p (MIRT545945)
- hsa-mir-138-2-3p (MIRT545946)
- hsa-mir-3180-5p (MIRT552637)
- hsa-mir-665 (MIRT552638)
- hsa-mir-4796-3p (MIRT552639)
- hsa-mir-548ah-5p (MIRT552640)
- hsa-mir-3609 (MIRT552641)
- hsa-mir-5089-3p (MIRT561327)
- hsa-mir-520b (MIRT561328)
- hsa-mir-302a-3p (MIRT561329)
- hsa-mir-302b-3p (MIRT561330)
- hsa-mir-302c-3p (MIRT561331)
- hsa-mir-302d-3p (MIRT561332)
- hsa-mir-520a-3p (MIRT561333)
- hsa-mir-373-3p (MIRT561334)
- hsa-mir-520e (MIRT561335)
- hsa-mir-372-3p (MIRT561336)
- hsa-mir-520c-3p (MIRT561337)
- hsa-mir-520d-3p (MIRT561338)
- hsa-mir-302e (MIRT561339)
- hsa-mir-5010-3p (MIRT561340)
- hsa-mir-4303 (MIRT561341)
- hsa-mir-8064 (MIRT561342)
- hsa-mir-558 (MIRT561343)
- hsa-mir-3160-3p (MIRT561344)
- hsa-mir-4653-5p (MIRT561345)
- hsa-mir-3921 (MIRT561346)
- hsa-mir-4714-5p (MIRT561347)
- hsa-mir-3919 (MIRT564812)
- hsa-mir-5687 (MIRT564813)
- hsa-mir-4773 (MIRT564814)
- hsa-mir-5096 (MIRT564815)
- hsa-mir-513a-5p (MIRT564816)
- hsa-mir-27b-3p (MIRT564817)
- hsa-mir-27a-3p (MIRT564818)
- hsa-mir-5581-3p (MIRT564819)
- hsa-mir-6872-3p (MIRT564820)
- hsa-mir-4530 (MIRT564821)
- hsa-mir-5586-5p (MIRT564822)
- hsa-mir-374a-3p (MIRT564823)
- hsa-mir-3606-5p (MIRT564824)
- hsa-mir-5186 (MIRT564825)
- hsa-mir-3174 (MIRT564826)
- hsa-mir-361-5p (MIRT564827)
- hsa-mir-5701 (MIRT571546)
Transcription Factor Targets for ZBTB18 Gene
Targeted motifs for ZBTB18 Gene
HOMER Transcription Factor Regulatory Elements motif ZBTB18
- Consensus sequence: AACATCTGGA Submotif: canonical Cell Type: HEK293 GEO ID: GSE58341
miRNA Products
- Search ViGene Biosciences for ZBTB18
Inhibitory RNA Products
- Origene RNAi, shRNA, mouse_rna, and siRNA products in human, mouse, rat for ZBTB18
- Browse OriGene Inhibitory RNA Products For ZBTB18
-
ViGene Biosciences ready-to-package AAV shRNAs for ZBTB18 gene
Clone Products
- OriGene clones in human for ZBTB18
- OriGene ORF clones in human,mouse for ZBTB18
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for ZBTB18 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for ZBTB18 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ZBTB18 gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) for ZBTB18 Gene
Localization for ZBTB18 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ZBTB18 Gene
- Nucleus. Note=Associates with condensed chromatin.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | TAS | 9013868 |
| GO:0015630 | microtubule cytoskeleton | IDA | -- |
No data available for Subcellular locations from COMPARTMENTS for ZBTB18 Gene
Pathways & Interactions for ZBTB18 Gene
More details on SuperPathways for ZBTB18
No Data Available
Interacting Proteins for ZBTB18 Gene
Selected Interacting proteins:
ENSP00000351539
Q99592-ZBT18_HUMAN
for ZBTB18 Gene via
STRING
UniProtKB
I2D
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0045892 | negative regulation of transcription, DNA-templated | ISS | -- |
No data available for Pathways by source and SIGNOR curated interactions for ZBTB18 Gene
Transcripts for ZBTB18 Gene
mRNA/cDNA for ZBTB18 Gene
- (4) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (47) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ZBTB18 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ZBTB18
-
Santa Cruz Biotechnology (SCBT) CRISPR for ZBTB18
- GenScript: Design CRISPR guide RNA sequences for ZBTB18
miRNA Products
- Search ViGene Biosciences for ZBTB18
Inhibitory RNA Products
- Origene RNAi, shRNA, mouse_rna, and siRNA products in human, mouse, rat for ZBTB18
- Browse OriGene Inhibitory RNA Products For ZBTB18
-
ViGene Biosciences ready-to-package AAV shRNAs for ZBTB18 gene
Clone Products
- OriGene clones in human for ZBTB18
- OriGene ORF clones in human,mouse for ZBTB18
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Flow Cytometry Products
Expression for ZBTB18 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
mRNA differential expression in normal tissues according to GTEx for ZBTB18 Gene
This gene is overexpressed in Brain - Cerebellar Hemisphere (x10.9) and Brain - Cerebellum (x7.0).
This gene is overexpressed in Fetal Brain (40.0) and Testis (25.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ZBTB18 Gene
SOURCE GeneReport for Unigene cluster for ZBTB18 Gene Hs.69997
mRNA Expression by UniProt/SwissProt for ZBTB18 Gene
Q99592-ZBT18_HUMAN
Tissue specificity:
Lymphoid tissues, testis, heart, brain, skeletal muscle, and pancreas and, at much lower level, other tissues.
Primer Products
-
OriGene qPCR primer pairs and template standards for ZBTB18
-
OriGene qPCR primer pairs for ZBTB18
Orthologs for ZBTB18 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | ZBTB18 35 |
|
||
| ZBTB18 36 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | ZBTB18 35 |
|
||
| ZBTB18 36 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | Zbtb18 35 |
|
||
| Zbtb18 16 |
|
||||
| Zbtb18 36 |
|
OneToOne | |||
| chimpanzee (Pan troglodytes) |
Mammalia | ZNF238 35 |
|
||
| ZBTB18 36 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | Zfp238 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ZBTB18 36 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | ZBTB18 36 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ZNF238 35 |
|
||
| ZBTB18 36 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | ZBTB18 36 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | Str.17626 35 |
|
||
| zbtb18 35 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | znf238-prov 35 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | zbtb18 35 |
|
||
| zbtb18 36 |
|
OneToOne |
- Species with no ortholog for ZBTB18:
-
- 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 squirt (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)
Paralogs for ZBTB18 Gene
Paralogs for ZBTB18 Gene
(5) SIMAP similar genes for ZBTB18 Gene using alignment to 1 proteins:
Variants for ZBTB18 Gene
| SNP ID | Clin | Chr 01 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1048824 | - | 244,054,196(+) | GGAAG(A/G)AGATG | reference, missense | |
| rs1389622 | -- | 244,052,562(-) | ACTTC(C/T)CCTTT | intron-variant, upstream-variant-2KB | |
| rs2486536 | -- | 244,056,261(+) | AAATA(A/G)CACCA | utr-variant-3-prime | |
| rs2453189 | -- | 244,050,473(+) | ACACA(C/G)ATCAA | intron-variant, upstream-variant-2KB | |
| rs3210202 | -- | 244,057,287(+) | ATTGC(C/T)TTTTC | utr-variant-3-prime |
Residual Variation Intolerance Score:
6.17% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.78;
16.48% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for ZBTB18 Gene
- Human Gene Mutation Database (HGMD)
- ZBTB18
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ZBTB18 Gene
Disorders for ZBTB18 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mental retardation, autosomal dominant 22 |
|
|
| retinitis pigmentosa 58 |
|
|
| distal monosomy 1q |
|
|
| barth syndrome |
|
|
| rubinstein-taybi syndrome |
|
|
Search ZBTB18 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ZBT18_HUMAN- Mental retardation, autosomal dominant 22 (MRD22) [MIM:612337]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Additional MRD22 patients have limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. {ECO:0000269 PubMed:24193349}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for ZBTB18
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- ZBTB18
No data available for Genatlas for ZBTB18 Gene
Publications for ZBTB18 Gene
- Structural analysis of the gene encoding RP58, a sequence-specific transrepressor associated with heterochromatin. (PMID: 10721697) Meng G. … Kasai M. (Gene 2000) 3 4 23 67
- Isolation and characterization of a cDNA encoding a translin-like protein, TRAX. (PMID: 9013868) Aoki K. … Kasai M. (FEBS Lett. 1997) 2 3
- C2H2-171: a novel human cDNA representing a developmentally regulated POZ domain/zinc finger protein preferentially expressed in brain. (PMID: 9568537) Becker K.G. … Drew P.D. (Int. J. Dev. Neurosci. 1997) 2 3
- Analysis of tandem E-box motifs within human Complement receptor 2 (CR2/CD21) promoter reveals cell specific roles for RP58, E2A, USF and localized chromatin accessibility. (PMID: 25817480) Cruickshank M.N. … Ulgiati D. (Int. J. Biochem. Cell Biol. 2015) 3
- Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R. … Iakoucheva L.M. (Nat. Commun. 2014) 3
Products for ZBTB18 Gene
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- OriGene Purified Proteins for ZBTB18
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- Origene Custom Protein Services for ZBTB18
- Origene siRNA, shRNA, mouse_rna, and RNAi products in human, mouse, rat for ZBTB18
- Browse OriGene Inhibitory RNA Products For ZBTB18
- OriGene qPCR primer pairs for ZBTB18
- OriGene qPCR primer pairs and template standards for ZBTB18
- OriGene CRISPR knockouts for ZBTB18
- OriGene clones in human for ZBTB18
- OriGene ORF clones in human,mouse for ZBTB18
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- GenScript: Next-day shipping cDNA clones in your preferred vector
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- Novus Biologicals Antibodies for ZBTB18
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- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- antibodies-online Antibodies for ZBTB18: See all 20
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- antibodies-online Proteins for ZBTB18: See all 7
- Search antibodies-online for peptides
- GeneTex Ctsb antibody for ZBTB18
- Search GeneTex for Proteins for ZBTB18
- ViGene Biosciences adenoviral particle packaged cDNA for ZBTB18 gene
- ViGene Biosciences lentiviral particle packaged cDNA for ZBTB18 gene
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- ViGene Biosciences ready-to-package AAV shRNAs for ZBTB18 gene
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- Search ViGene Biosciences for ZBTB18
- Search ViGene Biosciences for ZBTB18
- Santa Cruz Biotechnology (SCBT) Antibodies for ZBTB18
- Search Santa Cruz Biotechnology (SCBT) for ZBTB18 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for ZBTB18
Sources for ZBTB18 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
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- (14) ProtoNet
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- (20) STRING
- (21) I2D
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) UniGene
- (28) AceView
- (29) RNAdb
- (30) ASD
- (31) ECgene
- (32) GeneAnnot
- (33) SAGE
- (34) SOURCE
- (35) HomoloGene
- (36) PanEnsembl
- (37) euGenes
- (38) SGD
- (39) FlyBase
- (40) WormBase
- (41) Pseudogene
- (42) DGV
- (43) dbSNP
- (44) HapMap
- (45) GenAtlas
- (46) GeneTests
- (47) HGMD
- (48) GAD
- (49) LSDB
- (50) BGMUT
- (51) HuGE
- (52) eBioscience
- (53) Atlas
- (54) Cell Signaling Technology
- (55) GenBank
- (56) H-invDB
- (57) HORDE
- (58) HUGE
- (59) IMGT
- (60) Leiden
- (61) MILLIPORE
- (62) miRBase
- (63) DME
- (64) Nature
- (65) NCBI
- (66) OriGene
- (67) PubMed
- (68) R&D Systems
- (69) Salk
- (70) TGDB
- (71) Tufts
- (72) YEDA
- (73) CROW21
- (74) Tocris
- (75) Abcam
- (76) Novus
- (77) ProSpec
- (78) Sino Biological
- (79) GenScript
- (80) Qiagen
- (81) Cloud-Clone Corp.
- (82) Enzo Life Sciences
- (83) OCA
- (84) Proteopedia
- (85) MOPED
- (86) SPIRE
- (87) neXtProt
- (88) Reactome
- (89) GeneGo (Thomson Reuters)
- (90) fRNAdb
- (91) DISEASES
- (92) SIMAP
- (93) GenomeRNAi
- (94) LifeMap
- (95) miRTarBase
- (96) MalaCards
- (97) Invitrogen
- (98) BitterDB
- (99) Vector BioLabs
- (100) ESI-BIO
- (101) RefSeq
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- (104) IUPHAR
- (105) BioGPS
- (106) Illumina
- (107) COMPARTMENTS
- (108) HOMER
- (109) PaxDb
- (110) ApexBio
- (111) Addgene
- (112) Advanced Cell Diagnostics
- (113) antibodies-online
- (114) CYP
- (115) NONCODE
- (116) SwitchGear Genomics
- (117) TreeFam
- (118) PathCards
- (119) GeneReviews
- (120) GeneTex
- (121) Taconic Biosciences
- (122) GTEx
- (123) ProteomicsDB
- (124) SCBT
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- (148) FANTOM5
- (149) ENCODE
- (150) ProSci
- (151) Horizon