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Aliases for PHF21B Gene

Aliases for PHF21B Gene

  • PHD Finger Protein 21B 2 3 5
  • PHD Finger Protein 4 2 3
  • KIAA1661 4
  • BHC80L 3
  • PHF4 3

External Ids for PHF21B Gene

Previous HGNC Symbols for PHF21B Gene

  • PHF4

Previous GeneCards Identifiers for PHF21B Gene

  • GC22M043598
  • GC22M045277
  • GC22M028224

Summaries for PHF21B Gene

GeneCards Summary for PHF21B Gene

PHF21B (PHD Finger Protein 21B) is a Protein Coding gene. An important paralog of this gene is PHF21A.

Additional gene information for PHF21B Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHF21B Gene

Genomics for PHF21B Gene

Regulatory Elements for PHF21B Gene

Enhancers for PHF21B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22H045005 1.5 FANTOM5 Ensembl ENCODE 29.2 +1.7 1679 5 ZSCAN4 ZNF76 KLF17 GLIS2 ZNF366 EGR2 SP3 YY2 ZEB2 REST PHF21B LOC101927551 NUP50-AS1 KIAA0930
GH22H045289 1.5 Ensembl ENCODE dbSUPER 19.2 -280.9 -280852 1 HDGF PKNOX1 ZNF133 GLI4 ZNF2 GLIS2 ZNF302 ZNF416 ATF7 ZNF548 CDPF1 LINC00899 ENSG00000273243 FAM118A LOC642648 PHF21B RPS10P31 ENSG00000236079 FBLN1 SMC1B
GH22H045980 1 ENCODE 27.9 -969.8 -969777 0 HDGF ZNF133 ZNF2 TCF12 ZNF121 ZNF488 ZNF662 ZNF292 SMARCA4 ZNF658 CDPF1 TRMU ENSG00000273243 LINC00899 PHF21B FBLN1 LOC642648 FAM118A KIAA0930 NUP50
GH22H044330 1 Ensembl 20 +678.4 678377 2 ZNF133 GLI4 ZNF2 GLIS2 KLF7 YY2 TSHZ1 ZNF292 GLIS1 ZNF624 ENSG00000273243 RTL6 PHF21B ENSG00000236079 RPS10P31 NUP50 KIAA1644 ENSG00000273287 FAM118A LOC101927499
GH22H044020 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +988.3 988289 2 ZNF473 ZSCAN4 INSM2 GLI4 ZEB1 ZNF366 FOS ZNF391 YY2 TSHZ1 ENSG00000261251 LOC100506679 SAMM50 RPL35AP36 RTL6 KIAA1644 PHF21B TTLL1 PARVB GC22M044040
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PHF21B on UCSC Golden Path with GeneCards custom track

Promoters for PHF21B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000147129 399 2001 CTCF MXI1 KLF1 ZSCAN4 ZNF76 KLF17 ZIC2 HIC1 GLIS2 ZNF366

Genomic Location for PHF21B Gene

Chromosome:
22
Start:
44,868,432 bp from pter
End:
45,009,999 bp from pter
Size:
141,568 bases
Orientation:
Minus strand

Genomic View for PHF21B Gene

Genes around PHF21B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHF21B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PHF21B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHF21B Gene

Proteins for PHF21B Gene

  • Protein details for PHF21B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96EK2-PF21B_HUMAN
    Recommended name:
    PHD finger protein 21B
    Protein Accession:
    Q96EK2
    Secondary Accessions:
    • B0QYW3
    • B0QYW4
    • B3KRU4
    • B7Z4F8
    • Q5TFL2
    • Q6ICC0

    Protein attributes for PHF21B Gene

    Size:
    531 amino acids
    Molecular mass:
    57455 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PHF21B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PHF21B Gene

Post-translational modifications for PHF21B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PHF21B Gene

Domains & Families for PHF21B Gene

Gene Families for PHF21B Gene

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

Protein Domains for PHF21B Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PHF21B: view

No data available for UniProtKB/Swiss-Prot for PHF21B Gene

Function for PHF21B Gene

Phenotypes From GWAS Catalog for PHF21B Gene

Gene Ontology (GO) - Molecular Function for PHF21B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA --
GO:0003682 chromatin binding IBA --
GO:0003712 transcription cofactor activity IBA --
GO:0042393 histone binding IBA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PHF21B: view
genes like me logo Genes that share phenotypes with PHF21B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PHF21B Gene

Localization for PHF21B 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 PHF21B gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (1)
  • Nucleus (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PHF21B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
genes like me logo Genes that share ontologies with PHF21B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PHF21B Gene

Pathways & Interactions for PHF21B Gene

SuperPathways for PHF21B Gene

No Data Available

Interacting Proteins for PHF21B Gene

Gene Ontology (GO) - Biological Process for PHF21B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IBA --
genes like me logo Genes that share ontologies with PHF21B: view

No data available for Pathways by source and SIGNOR curated interactions for PHF21B Gene

Drugs & Compounds for PHF21B Gene

No Compound Related Data Available

Transcripts for PHF21B Gene

Unigene Clusters for PHF21B Gene

PHD finger protein 21B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for PHF21B Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^
SP1: - - - - - - - - - -
SP2: - - - - - - - - - - -
SP3: - - - - - - - - -
SP4: - - - - - - - - -
SP5: - - - - - -
SP6: - - - - - - -
SP7:
SP8: -
SP9:

ExUns: 21 ^ 22
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for PHF21B Gene

GeneLoc Exon Structure for
PHF21B
ECgene alternative splicing isoforms for
PHF21B

Expression for PHF21B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PHF21B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PHF21B Gene

This gene is overexpressed in Pituitary (x11.4).

Protein differential expression in normal tissues from HIPED for PHF21B Gene

This gene is overexpressed in Fetal gut (14.9), Urinary Bladder (12.1), Rectum (12.1), and Gallbladder (10.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PHF21B Gene



Protein tissue co-expression partners for PHF21B Gene

NURSA nuclear receptor signaling pathways regulating expression of PHF21B Gene:

PHF21B

SOURCE GeneReport for Unigene cluster for PHF21B Gene:

Hs.254097

Evidence on tissue expression from TISSUES for PHF21B Gene

  • Nervous system(4.3)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with PHF21B: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PHF21B Gene

Orthologs for PHF21B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PHF21B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PHF21B 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PHF21B 33 34
  • 92.65 (n)
cow
(Bos Taurus)
Mammalia PHF21B 33 34
  • 91.21 (n)
mouse
(Mus musculus)
Mammalia Phf21b 33 16 34
  • 88.2 (n)
rat
(Rattus norvegicus)
Mammalia Phf21b 33
  • 88.07 (n)
oppossum
(Monodelphis domestica)
Mammalia PHF21B 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PHF21B 34
  • 24 (a)
OneToOne
chicken
(Gallus gallus)
Aves PHF21B 33 34
  • 76.88 (n)
lizard
(Anolis carolinensis)
Reptilia PHF21B 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495715 33
  • 73.32 (n)
Str.16953 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.12693 33
zebrafish
(Danio rerio)
Actinopterygii PHF21B (2 of 2) 34
  • 53 (a)
OneToMany
CABZ01111990.1 34
  • 47 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RCO1 34
  • 7 (a)
OneToMany
Species where no ortholog for PHF21B 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)
  • 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)

Evolution for PHF21B Gene

ENSEMBL:
Gene Tree for PHF21B (if available)
TreeFam:
Gene Tree for PHF21B (if available)

Paralogs for PHF21B Gene

Paralogs for PHF21B Gene

(1) SIMAP similar genes for PHF21B Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with PHF21B: view

Variants for PHF21B Gene

Sequence variations from dbSNP and Humsavar for PHF21B Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1000007983 -- 44,930,954(+) ACCCA(A/G)CAGCT intron-variant
rs1000041694 -- 44,969,913(+) TGAGA(A/T)TTGAA intron-variant
rs1000079843 -- 44,939,681(+) CACGG(A/C)CACAG intron-variant
rs1000087375 -- 44,911,420(+) GTTTA(A/G)GAGGA intron-variant
rs1000100677 -- 44,941,662(+) TCCAC(C/T)GTCAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PHF21B Gene

Variant ID Type Subtype PubMed ID
dgv739e201 CNV deletion 23290073
dgv775n67 CNV gain 20364138
esv1006365 CNV deletion 20482838
esv1527783 CNV deletion 17803354
esv1949381 CNV deletion 18987734
esv2457019 CNV deletion 19546169
esv2499028 CNV insertion 19546169
esv2661257 CNV deletion 23128226
esv2724375 CNV deletion 23290073
esv2724376 CNV deletion 23290073
esv2724378 CNV deletion 23290073
esv2724379 CNV deletion 23290073
esv2724380 CNV deletion 23290073
esv2724381 CNV deletion 23290073
esv2724382 CNV deletion 23290073
esv2724383 CNV deletion 23290073
esv2724385 CNV deletion 23290073
esv2762125 CNV loss 21179565
esv3027123 CNV deletion 24192839
esv3334624 CNV duplication 20981092
esv3558234 CNV deletion 23714750
esv3568443 CNV loss 25503493
esv3647914 CNV loss 21293372
esv4033 CNV loss 18987735
esv7819 CNV loss 19470904
nsv1072218 CNV deletion 25765185
nsv1121598 CNV deletion 24896259
nsv1136689 CNV deletion 24896259
nsv1146040 CNV deletion 26484159
nsv191258 CNV insertion 16902084
nsv191598 CNV insertion 16902084
nsv471209 CNV loss 18288195
nsv513594 CNV insertion 21212237
nsv979686 CNV duplication 23825009
nsv9919 CNV gain+loss 18304495

Variation tolerance for PHF21B Gene

Residual Variation Intolerance Score: 69.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.29; 70.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PHF21B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PHF21B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHF21B Gene

Disorders for PHF21B Gene

Relevant External Links for PHF21B

Genetic Association Database (GAD)
PHF21B
Human Genome Epidemiology (HuGE) Navigator
PHF21B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PHF21B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PHF21B

No disorders were found for PHF21B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PHF21B Gene

Publications for PHF21B Gene

  1. 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 45 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 60
  4. 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 60
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 60

Products for PHF21B Gene

Sources for PHF21B Gene

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