U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

PCNX2 pecanex 2 [ Homo sapiens (human) ]

Gene ID: 80003, updated on 28-Sep-2022

Summary

Official Symbol
PCNX2provided by HGNC
Official Full Name
pecanex 2provided by HGNC
Primary source
HGNC:HGNC:8736
See related
Ensembl:ENSG00000135749 MIM:617656; AllianceGenome:HGNC:8736
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PCNXL2
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]
Expression
Ubiquitous expression in brain (RPKM 5.2), ovary (RPKM 2.2) and 22 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See PCNX2 in Genome Data Viewer
Location:
1q42.2
Exon count:
40
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (232983435..233327329, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (232369777..232682080, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (233119181..233431471, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373201 Neighboring gene uncharacterized LOC107985361 Neighboring gene nucleoside-triphosphatase, cancer-related Neighboring gene Sharpr-MPRA regulatory region 15021 Neighboring gene ribosomal protein S7 pseudogene 3 Neighboring gene mitogen-activated protein kinase kinase kinase 21 Neighboring gene RNA, U4 small nuclear 77, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.
EBI GWAS Catalog
Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11383, KIAA0435

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
pecanex-like protein 2
Names
pecanex homolog 2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_050912.2 RefSeqGene

    Range
    36604..348894
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001328607.3NP_001315536.1  pecanex-like protein 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in place of all but the first exon compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AL133380
  2. NM_014801.4NP_055616.3  pecanex-like protein 2 isoform 1

    See identical proteins and their annotated locations for NP_055616.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK021445, AK055374, AK074078, AK097229, AL122003, AL133380, AL139342, CT004972, DR731333
    Consensus CDS
    CCDS44335.1
    UniProtKB/Swiss-Prot
    A6NKB5, Q9HAL8
    UniProtKB/TrEMBL
    B3KNZ5
    Related
    ENSP00000258229.8, ENST00000258229.14
    Conserved Domains (1) summary
    pfam05041
    Location:16191843
    Pecanex_C; Pecanex protein (C-terminus)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    232983435..233327329 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047430870.1XP_047286826.1  pecanex-like protein 2 isoform X1

  2. XM_047430871.1XP_047286827.1  pecanex-like protein 2 isoform X2

  3. XM_011544278.3XP_011542580.2  pecanex-like protein 2 isoform X4

  4. XM_047430873.1XP_047286829.1  pecanex-like protein 2 isoform X6

  5. XM_047430872.1XP_047286828.1  pecanex-like protein 2 isoform X3

  6. XM_006711816.4XP_006711879.1  pecanex-like protein 2 isoform X5

    Conserved Domains (1) summary
    pfam07263
    Location:472641
    DMP1; Dentin matrix protein 1 (DMP1)

RNA

  1. XR_001737430.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    232369777..232682080 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_024938.2: Suppressed sequence

    Description
    NM_024938.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.