1. Gene
  2. PRDM5 - PR/SET domain 5 Gene

PRDM5 - PR/SET domain 5 Gene

Homo sapiens

Also known as BCS2; PFM2

Gene ID: 11107 | Gene type: protein coding

About PRDM5

Cytogenetic location: 4q27 Genomic coordinates (GRCh38): 4:120,684,291-120,922,726 (from NCBI)

This gene has 12 transcripts (splice variants), 202 orthologues, 4 paralogues and is associated with 4 phenotypes. Ubiquitous expression in ovary (RPKM 2.4), endometrium (RPKM 1.5) and 24 other tissues.

Summary

The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. [provided by RefSeq, Jul 2008]

PRDM5 Products(5)

mRNA Protein Name
NM_001300823.2 NP_001287752.1 PR domain zinc finger protein 5 isoform 2
NM_001300824.2 NP_001287753.1 PR domain zinc finger protein 5 isoform 3
NM_001379104.1 NP_001366033.1 PR domain zinc finger protein 5 isoform 4
NM_001379106.1 NP_001366035.1 PR domain zinc finger protein 5 isoform 5
NM_018699.4 NP_061169.2 PR domain zinc finger protein 5 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables DNA-binding transcription factor binding IDA
IDA: Inferred from direct assay
17636019 GOA
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
17636019 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
17636019 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
17636019 GOA
enables sequence-specific DNA binding IDA
IDA: Inferred from direct assay
17636019 GOA
enables transcription cis-regulatory region binding IDA
IDA: Inferred from direct assay
17636019 GOA
Biological Process GO Annotation Evidence Reference Source
involved in mitotic cell cycle IMP
IMP: Inferred from mutant phenotype
17636019 GOA
involved in negative regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
17636019 GOA
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
17636019 GOA
acts upstream of or within negative regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
21664999 GOA
acts upstream of or within positive regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
21664999 GOA
involved in regulation of extracellular matrix organization IMP
IMP: Inferred from mutant phenotype
21664999 GOA
Cellular Component GO Annotation Evidence Reference Source
located in nucleus IDA
IDA: Inferred from direct assay
17636019 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

PRDM5 Protein Structure

zf-C2H2_4

zf-C2H2_4: C2H2-type zinc finger (167 - 190)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (199 - 220)

zf-met

zf-met: Zinc-finger of C2H2 type (234 - 252)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (262 - 287)

zf-met

zf-met: Zinc-finger of C2H2 type (296 - 313)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (335 - 359)

zf-C2H2_jaz

zf-C2H2_jaz: Zinc-finger double-stranded RNA-binding (376 - 398)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (418 - 443)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (447 - 472)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (476 - 500)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (504 - 527)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (532 - 555)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (560 - 583)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (603 - 625)

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

PR domain zinc finger protein 5

PR domain 5

PRDM5 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
PRDM5 Q9NQX1 HDAC1 Homo sapiens Q13547 17636019
Intra
PRDM5 Q9NQX1 HDAC1 Homo sapiens Q13547 17636019
Intra
PRDM5 Q9NQX1 EHMT2 Homo sapiens Q96KQ7 17636019
Intra
PRDM5 Q9NQX1 EHMT2 Homo sapiens Q96KQ7 17636019
Intra
PRDM5 Q9NQX1 GFI1 Homo sapiens Q99684 17636019
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Brittle Cornea Syndrome 2

BCS2

Cornea, Brittle, Syndrome Type 2

Ehlers-Danlos Syndrome 6b

Ehlers-Danlos Syndrome Type 6

Brittle Cornea Syndrome 1

Brittle Cornea Syndrome

Fragilitas Oculi With Joint Hyperextensibility

Dysgenesis Mesodermalis Corneae Et Sclerae

BCS1

Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility

Ehlers-Danlos Syndrome, Type Vib, Formerly

Eds6b, Formerly

Type Vib Ehlers-Danlos Syndrome

Eds Vib

Ehlers-Danlos Syndrome Type 6b

Corneal Fragility Keratoglobus Blue Sclerae Joint Hyperextensibility

Eds6b Formerly

Ehlers-Danlos Syndrome Type Vib Formerly

Ehlers-Danlos Syndrome Type 6

Cornea, Brittle, Syndrome

Cornea, Brittle, Syndrome, Type 1

Ehlers-Danlos Syndrome 6b

Ehlers-Danlos Syndrome

Eds

Cutis Hyperelastica

Elastic Skin

Ehlers-Danlos Syndromes

Ed Syndrome

Ehlers Danlos Syndrome

Ehlers Danlos Disease

Eds - [Ehlers-Danlos Syndrome]

Keratoconus

Kc

Conical Cornea

Noninflammatory Corneal Thining

Bulging Cornea

Cornea Conical

Acquired Conus Of Cornea

Hyperekplexia 3

HKPX3

Hyperekplexia, Type 3

Persistent Hyperplastic Primary Vitreous

Congenital Retinal Detachment

Ncrna Disease

Non-Syndromic Congenital Retinal Non-Attachment

Pfvs

Phpv

Persistent Fetal Vasculature Syndrome

Axenfeld-Rieger Syndrome

Axenfeld Syndrome

Rieger Syndrome

Rieger Anomaly

Axenfeld Anomaly

Anomaly, Rieger'S

Hagedoom Syndrome

Rgs - Rieger Syndrome

Rieger'S Anomaly

Goniodysgenesis Hypodontia

Iridogoniodysgenesis With Somatic Anomalies

Ars

Axenfeld And Rieger Anomaly

Axra

Axrs

Rieger Eye Malformation Sequence

Irregular Astigmatism
Brittle Bone Disorder

Osteogenesis Imperfecta

Brittle Bone Disease

Fragilitas Ossium

Osteopsathyrosis

Lobstein Disease

Oi

Vrolik Disease

Lobstein'S Disease

Lobstein'S Syndrome

Vrolik'S Disease

Porak And Durante Disease

Glass Bone Disease

Osteogenesis Imperfecta, Dominant Perinatal Lethal

Osteogenesis Imperfecta, Recessive Perinatal Lethal

Brittle Bone Syndrome

Oi - [Osteogenesis Imperfecta]

Ossium Fragility

Osteitis Fragilitans

Bony Fragility

Blue Sclera With Fragility Of Bone And Deafness

White Blue Sclera - Fragility Of Bone - Deafness

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
Canis familiaris PRDM5 VGNC VGNC:54812
Macaca mulatta PRDM5 VGNC VGNC:100264
Rattus norvegicus PRDM5 RGD RGD:1588700
Mus musculus PRDM5 MGD MGI:1918029
Felis catus PRDM5 VGNC VGNC:79979
Bos taurus PRDM5 VGNC VGNC:33297