PRDM13 - PR/SET domain 13 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 59336

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-C2H2: Zinc finger, C2H2 type (137 - 159)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (588 - 610)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (615 - 638)

  • 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

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
Others PRDM13 NCBI