PRDM13 - PR/SET domain 13 Gene

Homo sapiens

Also known as PCH17; PFM10; CDIDHH; MU-MB-20.220

Gene ID: 59336 | Gene type: protein coding

About PRDM13

Cytogenetic location: 6q16.2 Genomic coordinates (GRCh38): 6:99,606,833-99,615,562 (from NCBI)

This gene has 2 transcripts (splice variants), 187 orthologues, 28 paralogues and is associated with 3 phenotypes. Low expression observed in reference dataset.

Summary

Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity; chromatin binding activity; and Histone Methyltransferase activity. Predicted to be involved in regulation of gene expression. Predicted to act upstream of or within negative regulation of transcription by RNA polymerase II and neurogenesis. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

PRDM13 Products(1)

mRNA	Protein	Name
NM_021620.4	NP_067633.2	PR domain zinc finger protein 13

PRDM13 Protein Structure

zf-C2H2

zf-H2C2_2

0
200
400
600
707 a.a.

Protein Preferred Names

Protein Names

PR domain zinc finger protein 13

PR domain 13

Related Diseases

Diseases

Alias

Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism

CDIDHH

Pontocerebellar Hypoplasia, Type 17

PCH17

Hypoplasia, Pontocerebellar, Type 17

Macular Dystrophy, Retinal, 1, North Carolina Type

North Carolina Macular Dystrophy	MCDR1
Ncmd	Central Areolar Pigment Epithelial Dystrophy
Caped	Retinal Pigment Epithelial Dystrophy, Central
Foveal Dystrophy, Progressive, Formerly	Macular Dystrophy 1, North Carolina Type
Foveal Dystrophy Progressive	Macular Dystrophy Retinal 1 North Carolina Type
Retinal Pigment Epithelial Dystrophy Central	Cape Dystrophy
Central Retinal Pigment Epithelial Dystrophy	North Carolina Macular Dystrophy, Retinal 1
Progressive Foveal Dystrophy	Macular Dystrophy, North Carolina Type
Dystrophy, Macular, Type 1, North Carolina Type

Large Cell Medulloblastoma

Gordon Holmes Syndrome

Cerebellar Ataxia And Hypogonadotropic Hypogonadism	Lhrh Deficiency And Ataxia
Cerebellar Ataxia-Hypogonadism Syndrome	GDHS
Cahh	Luteinizing Hormone-Releasing Hormone Deficiency With Ataxia
Gordon-Holmes Syndrome	Deficiency Of Luteinizing Hormone-Releasing Hormone With Ataxia
Luteinizing Hormone-Releasing Hormone, Deficiency Of, With Ataxia	Cerebellar Ataxia - Hypogonadism
Luteinizing Hormone Releasing Hormone, Deficiency Of With Ataxia	Ataxia, Cerebellar, And Hypogonadotropic Hypogonadism

Cleft Soft Palate

Cleft Velum	Cleft Velum Palatinum
Soft Cleft Palate	Soft Palate Perforation

Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive	Autosomal Recessive Mental Retardation
Autosomal Recessive Non-Syndromic Mental Retardation	Autosomal Recessive Non-Syndromic Intellectual Disability

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11063	PRDM13 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PRDM13	RGD	RGD:1589883
Felis catus	PRDM13	VGNC	VGNC:102492
Mus musculus	PRDM13	MGD	MGI:2448528
Canis familiaris	PRDM13	VGNC	VGNC:54341
Bos taurus	PRDM13	VGNC	VGNC:33291

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