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C22orf23 chromosome 22 open reading frame 23 [ Homo sapiens (human) ]

Gene ID: 84645, updated on 5-Mar-2024

Summary

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Official Symbol
C22orf23provided by HGNC
Official Full Name
chromosome 22 open reading frame 23provided by HGNC
Primary source
HGNC:HGNC:18589
See related
Ensembl:ENSG00000128346 MIM:619678; AllianceGenome:HGNC:18589
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
Also known as
EVG1; dJ1039K5.6
Expression
Broad expression in testis (RPKM 34.3), skin (RPKM 7.9) and 15 other tissues See more
Orthologs
mouse all
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Genomic context

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See C22orf23 in Genome Data Viewer
Location:
22q13.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (37943050..37953669, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (38404677..38415276, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (38339057..38349676, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38290604-38291248 Neighboring gene RNA, U6 small nuclear 900, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38294770-38295536 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38300995-38301810 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38301811-38302626 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38302627-38303442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38303443-38304256 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38306246-38307039 Neighboring gene MICAL like 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38313076-38313576 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:38313949-38314111 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38314373-38314874 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38314875-38315374 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38329039-38329841 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38329842-38330643 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13705 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:38360913-38361412 Neighboring gene RNA polymerase II, I and III subunit F Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38363646-38364146 Neighboring gene Sharpr-MPRA regulatory region 10540 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr22:38367753-38368266 Neighboring gene MPRA-validated peak4487 silencer Neighboring gene microRNA 6820 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38378831-38379668 Neighboring gene SRY-box transcription factor 10

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Experimental annotation of the human genome using microarray technology. Shoemaker DD, et al. Nature, 2001 Feb 15. PMID 11237012
  2. A genome annotation-driven approach to cloning the human ORFeome. Collins JE, et al. Genome Biol, 2004. PMID 15461802, Free PMC Article
  3. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. Suzuki Y, et al. Genome Res, 2004 Sep. PMID 15342556, Free PMC Article
  4. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Fragoza R, et al. Nat Commun, 2019 Sep 12. PMID 31515488, Free PMC Article
  5. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ32787

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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
  

General protein information

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Preferred Names
UPF0193 protein EVG1

NCBI Reference Sequences (RefSeq)

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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_001207062.1 → NP_001193991.1  UPF0193 protein EVG1 isoform 2

    See identical proteins and their annotated locations for NP_001193991.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an internal segment in the 5' UTR and an in-frame exon in the 5' CDS, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AF324466, BC031998, BI827388, BP368870, DA968042
    Consensus CDS
    CCDS74860.1
    UniProtKB/TrEMBL
    A0A087X0J6
    Related
    ENSP00000483445.1, ENST00000619227.4
    Conserved Domains (1) summary
    pfam05250
    Location:6 → 191
    UPF0193; uncharacterized protein family (UPF0193)

  2. NM_032561.5 → NP_115950.3  UPF0193 protein EVG1 isoform 1

    See identical proteins and their annotated locations for NP_115950.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AF324466, BC031998, BI463610, BP368870, DA968042
    Consensus CDS
    CCDS13962.1
    UniProtKB/Swiss-Prot
    Q5JYU9, Q96M68, Q9BZE7
    Related
    ENSP00000384667.1, ENST00000403305.6
    Conserved Domains (1) summary
    pfam05250
    Location:6 → 212
    UPF0193; Uncharacterized protein family (UPF0193)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    37943050..37953669 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047441550.1 → XP_047297506.1  UPF0193 protein EVG1 isoform X2

    UniProtKB/Swiss-Prot
    Q5JYU9, Q96M68, Q9BZE7
    Related
    ENSP00000384618.1, ENST00000403026.5

  2. XM_005261784.4 → XP_005261841.1  UPF0193 protein EVG1 isoform X4

    See identical proteins and their annotated locations for XP_005261841.1

    UniProtKB/TrEMBL
    A0A087X0J6
    Conserved Domains (1) summary
    pfam05250
    Location:6 → 191
    UPF0193; uncharacterized protein family (UPF0193)

  3. XM_005261782.4 → XP_005261839.1  UPF0193 protein EVG1 isoform X1

    See identical proteins and their annotated locations for XP_005261839.1

    Conserved Domains (1) summary
    pfam05250
    Location:6 → 194
    UPF0193; uncharacterized protein family (UPF0193)

  4. XM_005261783.3 → XP_005261840.1  UPF0193 protein EVG1 isoform X3

    Conserved Domains (1) summary
    pfam05250
    Location:6 → 173
    UPF0193; uncharacterized protein family (UPF0193)

  5. XM_005261781.2 → XP_005261838.1  UPF0193 protein EVG1 isoform X1

    See identical proteins and their annotated locations for XP_005261838.1

    Conserved Domains (1) summary
    pfam05250
    Location:6 → 194
    UPF0193; uncharacterized protein family (UPF0193)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    38404677..38415276 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054326034.1 → XP_054182009.1  UPF0193 protein EVG1 isoform X2

    UniProtKB/Swiss-Prot
    Q5JYU9, Q96M68, Q9BZE7

  2. XM_054326036.1 → XP_054182011.1  UPF0193 protein EVG1 isoform X4

    UniProtKB/TrEMBL
    A0A087X0J6

  3. XM_054326033.1 → XP_054182008.1  UPF0193 protein EVG1 isoform X1

  4. XM_054326035.1 → XP_054182010.1  UPF0193 protein EVG1 isoform X3

  5. XM_054326032.1 → XP_054182007.1  UPF0193 protein EVG1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BZE7.1 GenPept UniProtKB/Swiss-Prot:Q9BZE7

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