PCNX2 - pecanex 2 Gene

Also Known as PCNXL2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 80003

About PCNX2

Cytogenetic location: 1q42.2 Genomic coordinates (GRCh38): 1:232,983,435-233,327,329 (from NCBI)

This gene has 23 transcripts (splice variants), 207 orthologues and 3 paralogues. Ubiquitous expression in brain (RPKM 5.2), ovary (RPKM 2.2) and 22 other tissues.

Summary

This gene contains coding mononucleotide repeats that are associated with tumors of high mcrosatellite instability (MSI-H). Defects in this gene are involved in the tumorigenesis of MSI-H colorectal carcinomas. [provided by RefSeq, Jun 2016]

PCNX2 Products (2)

mRNA Protein Name
NM_001328607.3 NP_001315536.1 pecanex-like protein 2 isoform 2
NM_014801.4 NP_055616.3 pecanex-like protein 2 isoform 1
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 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

PCNX2 Protein Structure

Pecanex_C

Pecanex_C: Pecanex protein (C-terminus) (1618 - 1845)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2137 a.a.
Protein Preferred Names Protein Names

pecanex-like protein 2

  • pecanex homolog 2

Related Diseases

Diseases Alias
Autosomal Dominant Nonsyndromic Deafness 78
  • Dfna78

Latent Syphilis
  • Syphilis, Latent

Chromosome 4q21 Deletion Syndrome
  • 4q21 Microdeletion Syndrome

  • Monosomy 4q21

  • Del(4)(Q21)

  • Chromosome Deletion Syndrome 4q21

Tabes Dorsalis
  • Posterior Spinal Sclerosis

  • Tabes Dorsalis - Neurosyphilis

  • Syphilitic Myelopathy

Branchiootorenal Syndrome 1
  • Melnick-Fraser Syndrome

  • BOR1

  • Branchiootorenal Dysplasia

  • Branchiootorenal Syndrome 1, With Or Without Cataracts

  • Bor Syndrome 1

  • Branchiootorenal Dysplasia 1

  • Branchio-Oto-Renal Dysplasia 1

  • Branchio-Oto-Renal Syndrome Type 1

  • Branchiootorenal Syndrome, With/Without Cataract, Type 1

  • Branchio-Oto-Renal Syndrome

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
Felis catus PCNX2 VGNC VGNC:82449
Mus musculus PCNX2 MGD MGI:2445010
Bos taurus PCNX2 VGNC VGNC:32639
Canis familiaris PCNX2 VGNC VGNC:44313
Rattus norvegicus PCNX2 RGD RGD:1305883
Macaca mulatta PCNX2 VGNC VGNC:100027
Others PCNX2 NCBI