Format

Send to:

Choose Destination

COL6A4P2 collagen type VI alpha 4 pseudogene 2 [ Homo sapiens (human) ]

Gene ID: 646300, updated on 23-Nov-2021

Summary

Official Symbol
COL6A4P2provided by HGNC
Official Full Name
collagen type VI alpha 4 pseudogene 2provided by HGNC
Primary source
HGNC:HGNC:38501
See related
MIM:616612
Gene type
pseudo
RefSeq status
PROVISIONAL
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
COL6A4
Summary
This transcribed pseudogene represents the 3' end of a presumed ortholog to a mouse gene which encodes a collagen VI alpha 4 chain protein (GeneID 68553). The predicted ORF contains multiple premature stop codons. A large chromosome break separates this pseudogene from the 5' end of the presumed ortholog (DVWA, GeneID 344875) which is located upstream at chromosome 3p24.3. [provided by RefSeq, Jun 2009]
Expression
Low expression observed in reference dataset See more
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See COL6A4P2 in Genome Data Viewer
Location:
3q22.1
Exon count:
23
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (130212820..130273806)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (129931663..129992649)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986133 Neighboring gene ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 3 Neighboring gene small nuclear ribonucleoprotein polypeptide C pseudogene 8 Neighboring gene uncharacterized LOC105374106 Neighboring gene ATP synthase membrane subunit c locus 2 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

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
EBI GWAS Catalog

General gene information

Markers

Other Names

  • alpha collagen containing double von Willebrand factor A domains
  • collagen VI alpha 4 pseudogene 2
  • collagen, type VI, alpha 4

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.

RNA

  1. NR_027898.1 RNA Sequence

    Status: PROVISIONAL

    Source sequence(s)
    AC093004, AC112646, AC130888

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    130212820..130273806
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center