Aliases for ZBTB44 Gene

Aliases for ZBTB44 Gene

  • Zinc Finger And BTB Domain Containing 44 2 3 5
  • ZNF851 2 3 4
  • Zinc Finger And BTB Domain-Containing Protein 44 3 4
  • BTB/POZ Domain-Containing Protein 15 3 4
  • BTB (POZ) Domain Containing 15 2 3
  • Zinc Finger Protein 851 3 4
  • HSPC063 2 3
  • BTBD15 3 4
  • ZBTB44 5

External Ids for ZBTB44 Gene

Previous HGNC Symbols for ZBTB44 Gene

  • BTBD15

Previous GeneCards Identifiers for ZBTB44 Gene

  • GC11M129603
  • GC11M130096
  • GC11M126049

Summaries for ZBTB44 Gene

GeneCards Summary for ZBTB44 Gene

ZBTB44 (Zinc Finger And BTB Domain Containing 44) is a Protein Coding gene. Diseases associated with ZBTB44 include Retinitis Pigmentosa 58. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is ZNF618.

UniProtKB/Swiss-Prot Summary for ZBTB44 Gene

Additional gene information for ZBTB44 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZBTB44 Gene

Genomics for ZBTB44 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ZBTB44 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
GH11J130312 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 605.6 +0.3 328 4 CEBPG CTCF HNRNPL BACH1 LARP7 ZSCAN4 RBFOX2 POLR2A SMAD5 RCOR1 ZBTB44 ZBTB44-DT ST14
GH11J130301 Promoter/Enhancer 1 EPDnew Ensembl 607.9 +12.3 12316 5.6 PKNOX1 ARID3A RELB ZNF316 MAFF MAFK MAFG ELF1 FOXA1 JUNB ZBTB44 SNODB751 DDX18P5 ST14
GH11J130915 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.4 -601.6 -601550 2.7 CTCF ZNF692 POLR2A BACH1 JUND FOXA1 STAT3 LARP7 ZNF143 SMAD5 SNX19 piR-44546-001 ZBTB44 PRDM10 ADAMTS15
GH11J130191 Enhancer 0.9 ENCODE dbSUPER 6.3 +122.0 122002 2.4 GATAD2A NFKBIZ RXRB SP1 CEBPA KAT7 ZBTB25 TBP CEBPB SMAD4 ZBTB44 lnc-ZBTB44-1 ST14
GH11J130294 Enhancer 0.7 Ensembl ENCODE 7.8 +18.6 18616 3.4 TEAD4 TAL1 ATF2 NANOG ZNF362 CBFA2T3 ARID1B DDX18P5 ZBTB44 SNODB751 ST14
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZBTB44 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZBTB44

Top Transcription factor binding sites by QIAGEN in the ZBTB44 gene promoter:
  • aMEF-2
  • AREB6
  • FOXL1
  • HSF2
  • Lhx3a
  • LHX3b
  • LyF-1
  • MEF-2A
  • Spz1

Genomic Locations for ZBTB44 Gene

Genomic Locations for ZBTB44 Gene
chr11:130,226,677-130,314,917
(GRCh38/hg38)
Size:
88,241 bases
Orientation:
Minus strand
chr11:130,096,572-130,184,607
(GRCh37/hg19)
Size:
88,036 bases
Orientation:
Minus strand

Genomic View for ZBTB44 Gene

Genes around ZBTB44 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZBTB44 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZBTB44 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZBTB44 Gene

Proteins for ZBTB44 Gene

  • Protein details for ZBTB44 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NCP5-ZBT44_HUMAN
    Recommended name:
    Zinc finger and BTB domain-containing protein 44
    Protein Accession:
    Q8NCP5
    Secondary Accessions:
    • Q6IPT8
    • Q86VJ7
    • Q86XX5

    Protein attributes for ZBTB44 Gene

    Size:
    570 amino acids
    Molecular mass:
    63848 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ZBTB44 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZBTB44 Gene

Post-translational modifications for ZBTB44 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ZBTB44 Gene

Domains & Families for ZBTB44 Gene

Gene Families for ZBTB44 Gene

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

Protein Domains for ZBTB44 Gene

InterPro:
Blocks:
  • BTB/POZ domain
ProtoNet:

Suggested Antigen Peptide Sequences for ZBTB44 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein 851 (ZBT44_HUMAN)
genes like me logo Genes that share domains with ZBTB44: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ZBTB44 Gene

Function for ZBTB44 Gene

Molecular function for ZBTB44 Gene

UniProtKB/Swiss-Prot Function:
May be involved in transcriptional regulation.

Phenotypes From GWAS Catalog for ZBTB44 Gene

Gene Ontology (GO) - Molecular Function for ZBTB44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IEA,IPI 25416956
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZBTB44: view
genes like me logo Genes that share phenotypes with ZBTB44: view

Animal Model Products

CRISPR Products

miRNA for ZBTB44 Gene

miRTarBase miRNAs that target ZBTB44

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZBTB44

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZBTB44 Gene

Localization for ZBTB44 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZBTB44 Gene

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 ZBTB44 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ZBTB44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with ZBTB44: view

Pathways & Interactions for ZBTB44 Gene

PathCards logo

SuperPathways for ZBTB44 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZBTB44 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ZBTB44 Gene

Drugs & Compounds for ZBTB44 Gene

No Compound Related Data Available

Transcripts for ZBTB44 Gene

mRNA/cDNA for ZBTB44 Gene

8 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
10 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 ZBTB44

Alternative Splicing Database (ASD) splice patterns (SP) for ZBTB44 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b
SP1: - - - - -
SP2: - - - - -
SP3: - - -
SP4: - - - - - - -
SP5: - - - - -
SP6: - - - - -
SP7: - -
SP8:
SP9: -

Relevant External Links for ZBTB44 Gene

GeneLoc Exon Structure for
ZBTB44

Expression for ZBTB44 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZBTB44 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

Protein differential expression in normal tissues from HIPED for ZBTB44 Gene

This gene is overexpressed in Plasma (45.3) and Peripheral blood mononuclear cells (21.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZBTB44 Gene



Protein tissue co-expression partners for ZBTB44 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZBTB44

SOURCE GeneReport for Unigene cluster for ZBTB44 Gene:

Hs.721470

Evidence on tissue expression from TISSUES for ZBTB44 Gene

  • Nervous system(4.7)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with ZBTB44: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZBTB44 Gene

Orthologs for ZBTB44 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZBTB44 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ZBTB44 30 31
  • 99.63 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ZBTB44 30 31
  • 94.22 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ZBTB44 30 31
  • 93.7 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ZBTB44 31
  • 93 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Zbtb44 30 17 31
  • 91.83 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Zbtb44 30
  • 91.39 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 91 (a)
OneToMany
-- 31
  • 69 (a)
OneToMany
Chicken
(Gallus gallus)
Aves ZBTB44 30 31
  • 83.48 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ZBTB44 31
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia zbtb44 30
  • 77.9 (n)
Str.16848 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.15152 30
Zebrafish
(Danio rerio)
Actinopterygii zbtb44 30 31
  • 65.08 (n)
OneToOne
Species where no ortholog for ZBTB44 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)
  • 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 ZBTB44 Gene

ENSEMBL:
Gene Tree for ZBTB44 (if available)
TreeFam:
Gene Tree for ZBTB44 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZBTB44: view image

Paralogs for ZBTB44 Gene

Paralogs for ZBTB44 Gene

Pseudogenes.org Pseudogenes for ZBTB44 Gene

genes like me logo Genes that share paralogs with ZBTB44: view

Variants for ZBTB44 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZBTB44 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs17857365 - p.Lys185Glu

Additional dbSNP identifiers (rs#s) for ZBTB44 Gene

Structural Variations from Database of Genomic Variants (DGV) for ZBTB44 Gene

Variant ID Type Subtype PubMed ID
dgv74e215 CNV deletion 23714750
esv2759871 CNV loss 17122850
esv33203 CNV loss 17666407
esv34550 CNV loss 17911159
esv3628078 CNV loss 21293372
esv3628079 CNV loss 21293372
nsv1070496 CNV deletion 25765185
nsv39016 CNV deletion 16902084
nsv468896 CNV loss 19166990
nsv556571 CNV loss 21841781
nsv818872 CNV loss 17921354
nsv832295 CNV gain 17160897
nsv975998 CNV duplication 23825009

Variation tolerance for ZBTB44 Gene

Residual Variation Intolerance Score: 29.8% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZBTB44 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZBTB44

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZBTB44 Gene

Disorders for ZBTB44 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ZBTB44 Gene - From: DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 58
  • rp58
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with ZBTB44: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZBTB44 Gene

Publications for ZBTB44 Gene

  1. 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
  2. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 2 3
  3. H4K20me0 recognition by BRCA1-BARD1 directs homologous recombination to sister chromatids. (PMID: 30804502) Nakamura K … Groth A (Nature cell biology 2019) 3
  4. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. (PMID: 31515488) Fragoza R … Yu H (Nature communications 2019) 3
  5. An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders. (PMID: 29892012) Chen S … Yu H (Nature genetics 2018) 3

Products for ZBTB44 Gene

  • Signalway Proteins for ZBTB44

Sources for ZBTB44 Gene