1. Gene
  2. PHF21B - PHD finger protein 21B Gene

PHF21B - PHD finger protein 21B Gene

Homo sapiens

Also known as PHF4; BHC80L

Gene ID: 112885 | Gene type: protein coding

About PHF21B

Cytogenetic location: 22q13.31 Genomic coordinates (GRCh38): 22:44,881,162-45,010,005 (from NCBI)

This gene has 12 transcripts (splice variants), 173 orthologues and 5 paralogues. Biased expression in testis (RPKM 1.4), brain (RPKM 1.4) and 8 other tissues.

Summary

Predicted to enable metal ion binding activity. [provided by Alliance of Genome Resources, Apr 2022]

PHF21B Products(5)

mRNA Protein Name
NM_001135862.3 NP_001129334.1 PHD finger protein 21B isoform 2
NM_001242450.2 NP_001229379.1 PHD finger protein 21B isoform 3
NM_001284296.2 NP_001271225.1 PHD finger protein 21B isoform 4
NM_001413063.1 NP_001399992.1 PHD finger protein 21B isoform 2
NM_138415.5 NP_612424.1 PHD finger protein 21B isoform 1
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
26871637 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PHF21B Protein Structure

PHD

PHD: PHD-finger (355 - 398)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 531 a.a.
Protein Preferred Names Protein Names

PHD finger protein 21B

PHD finger protein 4

Related Diseases

Diseases Alias
Mitochondrial Dna Depletion Syndrome 1

MTDPS1

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Tymp-Related

Myoneurogastrointestinal Encephalopathy Syndrome

Polip Syndrome

Mitochondrial Dna Depletion Syndrome, Type 1

Mngie, Tymp-Related

Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudoobstruction

Mitochondrial Dna Depletion Syndrome 1, Mngie Type

Mitochondrial Neurogastrointestinal Encephalomyopathy

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Tymp-Related

Myoneurogastrointestinal Encephalomyopathy

Polyneuropathy Ophthalmoplegia Leukoencephalopathy And Intestinal Pseudoobstruction

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome

Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome

Autosomal Dominant Opitz G/Bbb Syndrome

Catch22

Cayler Cardiofacial Syndrome

Conotruncal Anomaly Face Syndrome

Digeorge Syndrome

Sedlackova Syndrome

Shprintzen Syndrome

Velocardiofacial Syndrome

22q11.2 Distal Deletion Syndrome

Distal 22q11.2 Microdeletion Syndrome

22q11.2ds

Vcfs

Velo-Cardio-Facial Syndrome

Distal Chromosome 22q11.2 Deletion Syndrome

Chromosome 22q11.2 Deletion Syndrome Distal

Chromosome 22q11.2 Deletion Syndrome

Deletion 22q11.2 Syndrome

22q11ds

Catch 22

Digeorge Sequence

Microdeletion 22q11.2

Monosomy 22q11

Takao Syndrome

Distal Del(22)(Q11.2)

Distal Monosomy 22q11.2

Catch 22 Syndrome

Chromosome Deletion Syndrome 22q11.2, Distal

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta PHF21B VGNC VGNC:75861
Rattus norvegicus PHF21B RGD RGD:1308739
Bos taurus PHF21B VGNC VGNC:32822
Canis familiaris PHF21B VGNC VGNC:108212
Mus musculus PHF21B MGD MGI:2443812
Felis catus PHF21B VGNC VGNC:64143