1. Gene
  2. PKNOX2 - PBX/knotted 1 homeobox 2 Gene

PKNOX2 - PBX/knotted 1 homeobox 2 Gene

Homo sapiens

Also known as PREP2

Gene ID: 63876 | Gene type: protein coding

About PKNOX2

Cytogenetic location: 11q24.2 Genomic coordinates (GRCh38): 11:125,164,751-125,433,389 (from NCBI)

This gene has 14 transcripts (splice variants), 217 orthologues and 12 paralogues. Broad expression in thyroid (RPKM 4.8), ovary (RPKM 4.1) and 21 other tissues.

Summary

Homeodomain proteins are sequence-specific transcription factors that share a highly conserved DNA-binding domain and play fundamental roles in cell proliferation, differentiation, and death. PKNOX2 belongs to the TALE (3-amino acid loop extension) class of homeodomain proteins characterized by a 3-amino acid extension between alpha helices 1 and 2 within the homeodomain (Imoto et al., 2001 [PubMed 11549286]).[supplied by OMIM, Oct 2009]

PKNOX2 Products(19)

mRNA Protein Name
NM_001382323.2 NP_001369252.1 homeobox protein PKNOX2 isoform a
NM_001382324.1 NP_001369253.1 homeobox protein PKNOX2 isoform a
NM_001382325.1 NP_001369254.1 homeobox protein PKNOX2 isoform a
NM_001382326.1 NP_001369255.1 homeobox protein PKNOX2 isoform a
NM_001382327.1 NP_001369256.1 homeobox protein PKNOX2 isoform a
NM_001382328.1 NP_001369257.1 homeobox protein PKNOX2 isoform a
NM_001382329.1 NP_001369258.1 homeobox protein PKNOX2 isoform b
NM_001382330.1 NP_001369259.1 homeobox protein PKNOX2 isoform b
NM_001382331.1 NP_001369260.1 homeobox protein PKNOX2 isoform b
NM_001382332.1 NP_001369261.1 homeobox protein PKNOX2 isoform b
NM_001382333.1 NP_001369262.1 homeobox protein PKNOX2 isoform b
NM_001382334.1 NP_001369263.1 homeobox protein PKNOX2 isoform c
NM_001382335.1 NP_001369264.1 homeobox protein PKNOX2 isoform c
NM_001382336.1 NP_001369265.1 homeobox protein PKNOX2 isoform d
NM_001382337.1 NP_001369266.1 homeobox protein PKNOX2 isoform d
NM_001382338.1 NP_001369267.1 homeobox protein PKNOX2 isoform d
NM_001382339.1 NP_001369268.1 homeobox protein PKNOX2 isoform e
NM_001382340.1 NP_001369269.1 homeobox protein PKNOX2 isoform f
NM_001382341.1 NP_001369270.1 homeobox protein PKNOX2 isoform g

PKNOX2 Protein Structure

Homeobox_KN

Homeobox_KN: Homeobox KN domain (306 - 345)

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  • 400
  • 472 a.a.
Protein Preferred Names Protein Names

homeobox protein PKNOX2

PBX/knotted homeobox 2

Related Diseases

Diseases Alias
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2a

MLC2A

Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, 2a

Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, Type 2a

Brugada Syndrome 2

BRGDA2

Brugada Syndrome, Type 2

Megalencephalic Leukoencephalopathy With Subcortical Cysts 2b

Megalencephalic Leukoencephalopathy With Subcortical Cysts 2b, Remitting, With Or Without Mental Retardation

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 PKNOX2 VGNC VGNC:44615
Felis catus PKNOX2 VGNC VGNC:64196
Bos taurus PKNOX2 VGNC VGNC:32949
Rattus norvegicus PKNOX2 RGD RGD:1590611
Macaca mulatta PKNOX2 VGNC VGNC:76037
Mus musculus PKNOX2 MGD MGI:2445415