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QRICH2 glutamine rich 2 [ Homo sapiens (human) ]

Gene ID: 84074, updated on 3-Apr-2024

Summary

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Official Symbol
QRICH2provided by HGNC
Official Full Name
glutamine rich 2provided by HGNC
Primary source
HGNC:HGNC:25326
See related
Ensembl:ENSG00000129646 MIM:618304; AllianceGenome:HGNC:25326
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
SPGF35
Summary
Involved in cell projection assembly; flagellated sperm motility; and negative regulation of ubiquitin-dependent protein catabolic process. Located in sperm flagellum. Implicated in spermatogenic failure 35. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 5.3), thyroid (RPKM 0.7) and 9 other tissues See more
Orthologs
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Genomic context

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Location:
17q25.1
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (76274049..76310964, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (77170605..77207519, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (74270130..74304357, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371896 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12794 Neighboring gene Sharpr-MPRA regulatory region 14042 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12795 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12796 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9008 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12797 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12798 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12799 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12800 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74268019-74268543 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74268544-74269067 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12802 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12803 Neighboring gene UBA like domain containing 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74273189-74274033 Neighboring gene phosphoribosyl pyrophosphate synthetase associated protein 1 Neighboring gene small nucleolar RNA U13 Neighboring gene RNA, U6 small nuclear 24, pseudogene

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. Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations. Kherraf ZE, et al. Clin Genet, 2019 Nov. PMID 31292949
  2. Loss-of-function missense variant of AKAP4 induced male infertility through reduced interaction with QRICH2 during sperm flagella development. Zhang G, et al. Hum Mol Genet, 2021 Dec 27. PMID 34415320
  3. Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella. Shen Y, et al. Nat Commun, 2019 Jan 25. PMID 30683861, Free PMC Article
  4. Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Köttgen A, et al. Nat Genet, 2013 Feb. PMID 23263486, Free PMC Article
  5. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. Khanna R, et al. FEBS J, 2018 Jun. PMID 29676528

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Loss-of-function missense variant of AKAP4 induced male infertility through reduced interaction with QRICH2 during sperm flagella development.
    Title: Loss-of-function missense variant of AKAP4 induced male infertility through reduced interaction with QRICH2 during sperm flagella development.
  2. Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations.
    Title: Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations.
  3. The findings strongly suggest that the genetic mutations of QRICH2 can lead to male infertility with multiple morphological abnormalities of the flagella, and that QRICH2 is essential for sperm flagellar formation.
    Title: Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella.
Submit: New GeneRIF Correction

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

Associated conditions

Description Tests
Spermatogenic failure 35
MedGen: C5193038 OMIM: 618341 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
EBI GWAS Catalog

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

  • DKFZp434P0316

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell projection assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell projection assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in flagellated sperm motility IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in flagellated sperm motility IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in nuclear membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in sperm flagellum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in sperm flagellum IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
glutamine-rich 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_001388453.1 → NP_001375382.1  glutamine-rich protein 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC015801, AC090699
    Consensus CDS
    CCDS92399.1
    UniProtKB/Swiss-Prot
    A2RRE1, Q96LM3, Q9H0J4
    UniProtKB/TrEMBL
    A0A7P0T7G7
    Related
    ENSP00000504874.1, ENST00000680821.2
    Conserved Domains (3) summary
    TIGR02168
    Location:1176 → 1544
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam03157
    Location:478 → 980
    Glutenin_hmw; High molecular weight glutenin subunit
    pfam16043
    Location:1418 → 1598
    DUF4795; Domain of unknown function (DUF4795)

  2. NM_032134.3 → NP_115510.2  glutamine-rich protein 2 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC015801, AC090699, AL136774
    Consensus CDS
    CCDS32741.2
    UniProtKB/Swiss-Prot
    A2RRE1, Q96LM3, Q9H0J4
    UniProtKB/TrEMBL
    A0A1B0GW36
    Related
    ENSP00000490761.1, ENST00000636395.1
    Conserved Domains (3) summary
    TIGR02168
    Location:1176 → 1544
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam03157
    Location:478 → 980
    Glutenin_hmw; High molecular weight glutenin subunit
    pfam16043
    Location:1418 → 1598
    DUF4795; Domain of unknown function (DUF4795)

RNA

  1. NR_130649.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC015801, AC090699

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    76274049..76310964 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047436911.1 → XP_047292867.1  glutamine-rich protein 2 isoform X4

  2. XM_017025207.3 → XP_016880696.1  glutamine-rich protein 2 isoform X2

    UniProtKB/Swiss-Prot
    A2RRE1, Q96LM3, Q9H0J4

  3. XM_047436910.1 → XP_047292866.1  glutamine-rich protein 2 isoform X1

  4. XM_011525344.3 → XP_011523646.2  glutamine-rich protein 2 isoform X3

  5. XM_047436914.1 → XP_047292870.1  glutamine-rich protein 2 isoform X8

  6. XM_047436913.1 → XP_047292869.1  glutamine-rich protein 2 isoform X7

  7. XM_006722136.4 → XP_006722199.1  glutamine-rich protein 2 isoform X6

    Conserved Domains (1) summary
    pfam16043
    Location:172 → 352
    DUF4795; Domain of unknown function (DUF4795)

  8. XM_047436912.1 → XP_047292868.1  glutamine-rich protein 2 isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    77170605..77207519 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054317528.1 → XP_054173503.1  glutamine-rich protein 2 isoform X4

  2. XM_054317526.1 → XP_054173501.1  glutamine-rich protein 2 isoform X2

  3. XM_054317525.1 → XP_054173500.1  glutamine-rich protein 2 isoform X1

  4. XM_054317527.1 → XP_054173502.1  glutamine-rich protein 2 isoform X3

  5. XM_054317532.1 → XP_054173507.1  glutamine-rich protein 2 isoform X8

  6. XM_054317531.1 → XP_054173506.1  glutamine-rich protein 2 isoform X7

  7. XM_054317530.1 → XP_054173505.1  glutamine-rich protein 2 isoform X6

  8. XM_054317529.1 → XP_054173504.1  glutamine-rich protein 2 isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H0J4.1 GenPept UniProtKB/Swiss-Prot:Q9H0J4

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