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. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is ZBTB42.
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.
Additional gene information for ZBTB18 Gene
- Monarch Initiative
- Search for ZBTB18 at DataMed
- Search for ZBTB18 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZBTB18 Gene
Genomics for ZBTB18 Gene
GeneHancer (GH) Regulatory Elements for ZBTB18 Gene
Promoters and enhancers for ZBTB18 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH01I244046 | Promoter/Enhancer | 3 | UCNEbase EPDnew FANTOM5 Ensembl ENCODE dbSUPER | 573.2 | +0.8 | 756 | 7.4 | HDGF PKNOX1 ARNT SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B ZNF213 | ZBTB18 DESI2 ENSG00000253326 COX20 AKT3 HNRNPU LINC01347 LOC101928068 ENSG00000236031 ADSS | |
| GH01I244253 | Enhancer | 1.1 | FANTOM5 Ensembl ENCODE | 2 | +205.6 | 205636 | 1.6 | CTCF L3MBTL2 MAX ZNF766 CTBP1 POLR2A VEZF1 MYC SPI1 MGA | AKT3 ZBTB18 ADSS GC01M244263 LOC105373262 LOC105373261 | |
| GH01I244191 | Enhancer | 0.3 | FANTOM5 | 5.9 | +142.8 | 142818 | 0.3 | ZBTB18 LOC105373261 GC01M244263 | ||
| GH01I244186 | Enhancer | 0.2 | FANTOM5 | 3.7 | +137.6 | 137637 | 0.1 | ZBTB18 LOC105373261 GC01M244263 | ||
| GH01I244195 | Enhancer | 0.2 | FANTOM5 | 3.5 | +146.4 | 146361 | 0.1 | ZBTB18 GC01M244263 LOC105373261 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around ZBTB18 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for ZBTB18 Gene
Genomic Locations for ZBTB18 Gene
- chr1:244,048,939-244,057,476
- (GRCh38/hg38)
- Size:
- 8,538 bases
- Orientation:
- Plus strand
- chr1:244,214,561-244,220,778
- (GRCh37/hg19)
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
No Post-translational modifications
Other Protein References for ZBTB18 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for ZBTB18
-
Abcam antibodies for ZBTB18
- Invitrogen Antibodies for ZBTB18
- Search GeneTex for 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
- Search GeneTex for Proteins for ZBTB18
-
ProSci 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
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Transcription factors
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 :- Belongs to the krueppel C2H2-type zinc-finger protein family. ZBTB18 subfamily.
- Family:
-
- Belongs to the krueppel C2H2-type zinc-finger protein family. ZBTB18 subfamily.
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.
Phenotypes From GWAS Catalog for ZBTB18 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003676 | nucleic acid binding | IEA | -- |
| GO:0003677 | DNA binding | TAS | 9013868 |
| GO:0003700 | DNA binding transcription factor activity | TAS | 9756912 |
| GO:0003713 | transcription coactivator activity | IDA | 25796446 |
| GO:0005515 | protein binding | 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
- genomics-online: gRNA clones - Search results for available ZBTB18 gene related products
- Applied Biological Materials CRISPR for ZBTB18
-
Vectors and viruses for KO, Activation, Repression, and more
-
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-338-3p (MIRT003042)
- 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, and sirna products in human, mouse, rat for ZBTB18
- Browse OriGene Inhibitory RNA Products For ZBTB18
- genomics-online: shRNA clones - Search results for available ZBTB18 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for ZBTB18 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- genomics-online: cdna clones - Search results for available ZBTB18 gene related products
- orf clones - Search results for available ZBTB18 gene related products
- Applied Biological Materials Clones for ZBTB18
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for ZBTB18
-
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
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.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| nucleus | 5 |
| extracellular | 4 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000228 | nuclear chromosome | TAS | 9756912 |
| GO:0005634 | nucleus | TAS,IDA | 9013868 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0015630 | microtubule cytoskeleton | IDA | -- |
| GO:0045171 | intercellular bridge | IDA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ZBTB18 Gene
Pathways & Interactions for ZBTB18 Gene
No Data Available
Interacting Proteins for ZBTB18 Gene
Selected Interacting proteins:
ENSP00000351539
Q99592-ZBT18_HUMAN
for ZBTB18 Gene via
STRING
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | ISS | -- |
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0007275 | multicellular organism development | IEA | -- |
| GO:0007519 | skeletal muscle tissue development | ISS | -- |
No data available for Pathways by source and SIGNOR curated interactions for ZBTB18 Gene
Transcripts for ZBTB18 Gene
mRNA/cDNA for ZBTB18 Gene
- (5) 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
- genomics-online: gRNA clones - Search results for available ZBTB18 gene related products
- Applied Biological Materials CRISPR for ZBTB18
-
Vectors and viruses for KO, Activation, Repression, and more
-
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, and sirna products in human, mouse, rat for ZBTB18
- Browse OriGene Inhibitory RNA Products For ZBTB18
- genomics-online: shRNA clones - Search results for available ZBTB18 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for ZBTB18 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- genomics-online: cdna clones - Search results for available ZBTB18 gene related products
- orf clones - Search results for available ZBTB18 gene related products
- Applied Biological Materials Clones for ZBTB18
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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
NURSA nuclear receptor signaling pathways regulating expression of ZBTB18 Gene:
ZBTB18SOURCE GeneReport for Unigene cluster for ZBTB18 Gene:
Hs.69997mRNA 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.
Evidence on tissue expression from TISSUES for ZBTB18 Gene
- Nervous system(4.9)
- Spleen(4.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ZBTB18 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- integumentary
- nervous
- skeletal muscle
- skeleton
Organs:
Head and neck:
- brain
- cheek
- chin
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- nose
- outer ear
- skull
General:
- skin
Primer Products
-
OriGene qPCR primer pairs for ZBTB18
-
OriGene qPCR primer pairs and template standards for ZBTB18
- genomics-online: primer clones - Search results for available ZBTB18 gene related products
Orthologs for ZBTB18 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ZBTB18 34 |
|
OneToOne | |
| ZNF238 33 |
|
||||
| oppossum (Monodelphis domestica) |
Mammalia | ZBTB18 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ZBTB18 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Zbtb18 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Zfp238 33 |
|
||
| dog (Canis familiaris) |
Mammalia | ZBTB18 33 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ZBTB18 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ZBTB18 34 |
|
OneToOne | |
| ZNF238 33 |
|
||||
| lizard (Anolis carolinensis) |
Reptilia | ZBTB18 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | zbtb18 33 |
|
||
| Str.17626 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | znf238-prov 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | zbtb18 33 34 |
|
- Species where no ortholog for ZBTB18 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 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
Variants for ZBTB18 Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1060499655 | pathogenic, Mental retardation, autosomal dominant 22 | 244,054,373(+) | C/ | coding_sequence_variant, stop_gained | |
| rs1064792999 | pathogenic, Mental retardation, autosomal dominant 22 | 244,054,357(+) | C/A/T | coding_sequence_variant, stop_gained, synonymous_variant | |
| rs1085307108 | pathogenic, not provided, Mental retardation, autosomal dominant 22 | 244,054,717(+) | AG/ | coding_sequence_variant, frameshift | |
| rs398122406 | pathogenic, Mental retardation, autosomal dominant 22 | 244,054,171(+) | G/T | coding_sequence_variant, stop_gained | |
| rs750922282 | pathogenic, Mental retardation, autosomal dominant 22 | 244,055,164(+) | C/A/T | coding_sequence_variant, missense_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3589398 | CNV | gain | 21293372 |
| nsv1068642 | CNV | deletion | 25765185 |
| nsv954008 | CNV | deletion | 24416366 |
| nsv954009 | CNV | deletion | 24416366 |
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)
Additional Variant Information for ZBTB18 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZBTB18 Gene
Disorders for ZBTB18 Gene
(2) MalaCards diseases for ZBTB18 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mental retardation, autosomal dominant 22 |
|
|
| retinitis pigmentosa 58 |
|
|
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.
Additional Disease Information for 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 22 58
- The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 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
- Dnmt3a binds deacetylases and is recruited by a sequence-specific repressor to silence transcription. (PMID: 11350943) Fuks F … Kouzarides T (The EMBO journal 2001) 3 4 58
- RP58 associates with condensed chromatin and mediates a sequence-specific transcriptional repression. (PMID: 9756912) Aoki K … Kasai M (The Journal of biological chemistry 1998) 3 4 58
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Sources for ZBTB18 Gene
- (1) GeneCards
- (2) HGNC
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- (4) Swiss-Prot
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- (30) GeneAnnot
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- (36) SGD
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- (64) ProSpec
- (65) Sino Biological
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- (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
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