PHF21B - PHD finger protein 21B Gene

Also Known as PHF4; BHC80L

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 112885

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
Molecular Function GO Annotation Evidence References 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
Others PHF21B NCBI