Format

Send to:

Choose Destination

C22orf34 chromosome 22 open reading frame 34 [ Homo sapiens (human) ]

Gene ID: 348645, updated on 12-Oct-2019

Summary

Official Symbol
C22orf34provided by HGNC
Official Full Name
chromosome 22 open reading frame 34provided by HGNC
Primary source
HGNC:HGNC:28010
See related
Ensembl:ENSG00000188511
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See C22orf34 in Genome Data Viewer
Location:
22q13.33
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (49414524..49657519, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (50013290..50051190, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L35 pseudogene 8 Neighboring gene Sharpr-MPRA regulatory regions 3830 and 4902 Neighboring gene uncharacterized LOC105373087 Neighboring gene uncharacterized LOC105373089 Neighboring gene microRNA 3667 Neighboring gene RN7SK pseudogene 252 Neighboring gene ribosomal protein L5 pseudogene 35

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

NHGRI GWAS Catalog

Description
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
NHGRI GWA Catalog
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
NHGRI GWA Catalog
Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
NHGRI GWA Catalog
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
NHGRI GWA Catalog

General protein information

Preferred Names
putative uncharacterized protein C22orf34
Names
uncharacterized protein C22orf34

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_001289922.3NP_001276851.1  putative uncharacterized protein C22orf34

    See identical proteins and their annotated locations for NP_001276851.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the protein.
    Source sequence(s)
    Z97192
    UniProtKB/Swiss-Prot
    Q6ZV56

RNA

  1. NR_110522.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' terminal exon, lacks multiple 3' exons and contains two alternate 3' terminal exons, compared to variant 1. This variant is represented as non-coding because it lacks the entire coding region found in variant 1.
    Source sequence(s)
    DA235633, Z82189
  2. NR_110523.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' terminal exon, lacks multiple 3' exons and contains four alternate 3' terminal exons, compared to variant 1. This variant is represented as non-coding because it lacks the entire coding region found in variant 1.
    Source sequence(s)
    Z82189, Z97192
    Related
    ENST00000414287.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    49414524..49657519 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452238.1XP_024308006.1  putative uncharacterized protein C22orf34 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001039473.2: Suppressed sequence

    Description
    NM_001039473.2: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.
  2. NM_198851.1: Suppressed sequence

    Description
    NM_198851.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Support Center