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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

    Gene LinkOut

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