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HCG22 HLA complex group 22 (gene/pseudogene) [ Homo sapiens (human) ]

Gene ID: 285834, updated on 5-Jan-2022

Summary

Official Symbol
HCG22provided by HGNC
Official Full Name
HLA complex group 22 (gene/pseudogene)provided by HGNC
Primary source
HGNC:HGNC:27780
See related
Ensembl:ENSG00000228789 MIM:613918
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
PBMUCL2
Summary
Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Nov 2021]
Annotation information
Annotation category: suggests misassembly
Expression
Biased expression in esophagus (RPKM 10.7) and brain (RPKM 0.7) See more
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Genomic context

See HCG22 in Genome Data Viewer
Location:
6p21.33
Exon count:
4
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (31053449..31059849)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31021226..31027626)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene mucin 21, cell surface associated Neighboring gene mucin 22 Neighboring gene RNA, U6 small nuclear 1133, pseudogene Neighboring gene chromosome 6 open reading frame 15

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
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
EBI GWAS Catalog
Identification of a susceptibility locus in STAT4 for Behçet's disease in Han Chinese in a genome-wide association study.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
EBI GWAS Catalog
Multiple loci are associated with white blood cell phenotypes.
EBI GWAS Catalog
Novel associations for hypothyroidism include known autoimmune risk loci.
EBI GWAS Catalog
The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.
EBI GWAS Catalog

General protein information

Preferred Names
protein PBMUCL2
Names
HLA complex group 22 (non-protein coding)
panbronchiolitis related mucin-like 2
panbronchiolitis-related mucin-like protein 2

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_001348249.1NP_001335178.1  protein PBMUCL2 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2, coding) represents the protein-coding allele.
    Source sequence(s)
    AB560771
    UniProtKB/Swiss-Prot
    E2RYF7
    Conserved Domains (1) summary
    cl00478
    Location:83248
    LGT; Prolipoprotein diacylglyceryl transferase

RNA

  1. NR_003948.3 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) uses an alternate splice site and is longer than variant 2.
    Source sequence(s)
    AB600644, AK094433, AL669830
    Related
    ENST00000426185.1
  2. NR_145427.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2, non-coding) represents the non protein-coding allele.
    Source sequence(s)
    AL669830
    Related
    ENST00000565192.1

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_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    31053449..31059849
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_167244.2 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    2386019..2392420
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    2535826..2542227
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p13 ALT_REF_LOCI_3

    Range
    2312820..2319221
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p13 ALT_REF_LOCI_4

    Range
    2363961..2370356
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p13 ALT_REF_LOCI_5

    Range
    2397574..2403965
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p13 ALT_REF_LOCI_6

    Range
    2311782..2317853
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p13 ALT_REF_LOCI_7

    Range
    2356909..2363299
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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