PRDM9 - PR/SET domain 9 Gene

Homo sapiens

Also known as PFM6; KMT8B; MSBP3; ZNF899; MEISETZ

Gene ID: 56979 | Gene type: protein coding

About PRDM9

Cytogenetic location: 5p14.2 Genomic coordinates (GRCh38): 5:23,507,155-23,528,093 (from NCBI)

This gene has 3 transcripts (splice variants), 74 orthologues and 62 paralogues. Restricted expression toward testis (RPKM 2.2).

Summary

The protein encoded by this gene is a zinc finger protein with Histone Methyltransferase activity that catalyzes histone H3 lysine 4 trimethylation (H3K4me3) during meiotic prophase. This protein contains multiple domains, including a Kruppel-associated box (KRAB) domain, an SSX repression domain (SSXRD), a PRD1-BF1 and RIZ homologous region, a subclass of SET (PR/SET) domain, and a tandem array of C2H2 zinc fingers. The zinc finger array recognizes a short sequence motif, leading to local H3K4me3, and meiotic recombination hotspot activity. The observed allelic variation alters the DNA-binding sequence specificity of the protein, resulting in distinct meiotic recombination hotspots amongst individuals and populations. Multiple alternate alleles of this gene have been described. [provided by RefSeq, Jul 2015]

PRDM9 Products(3)

mRNA	Protein	Name
NM_001310214.3	NP_001297143.1	histone-lysine N-methyltransferase PRDM9 isoform PRDM9 A
NM_001376900.1	NP_001363829.1	histone-lysine N-methyltransferase PRDM9 isoform PRDM9 B
NM_020227.4	NP_064612.2	histone-lysine N-methyltransferase PRDM9 isoform PRDM9 B

PRDM9 Protein Structure

KRAB

SSXRD

zf-H2C2_2

0
200
400
600
800
894 a.a.

Protein Preferred Names

Protein Names

histone-lysine N-methyltransferase PRDM9

PR domain 9

Related Diseases

Diseases

Alias

Genetic Non-Acquired Premature Ovarian Failure

Spastic Paraplegia 4, Autosomal Dominant

SPG4	Hereditary Spastic Paraplegia 4
Fsp2	Autosomal Dominant Spastic Paraplegia Type 4
Familial Spastic Paraplegia, Autosomal Dominant, 2	Autosomal Dominant Spastic Paraplegia 4
Familial Spastic Paraplegia Autosomal Dominant 2	Paraplegia, Spastic, Autosomal Dominant, Type 4

Haverhill Fever

Streptobacillosis	Streptobacillary Rat-Bite Fever
Streptobacillary Fever	Rat-Bite Fever Due To Streptobacillus Moniliformis
Erythema Arthriticum Epidemicum	Epidemic Arthritic Erythema

Spastic Paraplegia 24, Autosomal Recessive

SPG24	Spastic Paraplegia 24
Hereditary Spastic Paraplegia 24	Autosomal Recessive Spastic Paraplegia Type 24
Autosomal Recessive Spastic Paraplegia 24

Alacrima, Achalasia, And Mental Retardation Syndrome

AAMR	Alacrima, Achalasia, And Intellectual Disability Syndrome
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Intellectual Disability

Male Infertility

Infertility, Male	Infertility Male
Male Sterility	Absolute Infertility

Neuropathy, Hereditary, With Liability To Pressure Palsies

Tomaculous Neuropathy	Hereditary Neuropathy With Liability To Pressure Palsies
HNPP	Polyneuropathy, Familial Recurrent
Neuropathy, Recurrent, With Pressure Palsies	Current Pressure-Sensitive Neuropathy
Familial Recurrent Polyneuropathy	Heterozygous Microdeletion 17p11.2p12
Potato-Grubbing Palsy	Tulip-Bulb Digger'S Palsy
Compression Neuropathy	Entrapment Neuropathy
Familial Pressure Sensitive Neuropathy	Hereditary Motor And Sensory Neuropathy
Hereditary Pressure Sensitive Neuropathy	Inherited Tendency To Pressure Palsies
Hereditary Liability To Pressure Palsies	Nerve Compression Syndrome
Entrapment Neuropathies	Hereditary Motor And Sensory Neuropathies

Potocki-Lupski Syndrome

PTLS	Chromosome 17p11.2 Duplication Syndrome
17p11.2 Microduplication Syndrome	Duplication 17p11.2 Syndrome
Trisomy 17p11.2	Potocki-Lupski Syndrome (Dup(17)(P11.2p11.2))
17p11.2 Duplication Syndrome	Dup(17)(P11.2p11.2)
Pls	Chromosome 17, Trisomy 17p11 2

Spermatogenic Failure

Azoospermia	Spgf
Spermatogenic Failure, Susceptibility To	Absent Sperm
Aspermatogenesis	Infertility Due To Azoospermia
Hypospermatogenesis	Azoospermatism

Williams-Beuren Syndrome

Williams Syndrome	WBS
Wms	Deletion 7q11.23
Monosomy 7q11.23	Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
Fanconi Schlesinger Syndrome	Beuren Syndrome
Elfin Facies Syndrome	Elfin Facies With Hypercalcemia
Hypercalcemia-Supravalvar Aortic Stenosis	Ws

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-114209	MRK-740	Inhibitor	99.84%	Unkown
HY-RS11073	PRDM9 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PRDM9	MGD	MGI:2384854
Rattus norvegicus	PRDM9	RGD	RGD:1305247

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