QRICH2 Gene (Protein Coding)

Glutamine Rich 2

GC17M076275
GIFtS:
33
See more...

Aliases for QRICH2 Gene

Aliases for QRICH2 Gene

  • Glutamine Rich 2 2 3 5
  • Glutamine-Rich Protein 2 3 4
  • DKFZP434P0316 2
  • SPGF35 3
  • QRICH2 5

External Ids for QRICH2 Gene

Previous GeneCards Identifiers for QRICH2 Gene

  • GC17M071782
  • GC17M074262
  • GC17M069698
  • GC17M076274

Summaries for QRICH2 Gene

GeneCards Summary for QRICH2 Gene

QRICH2 (Glutamine Rich 2) is a Protein Coding gene. Diseases associated with QRICH2 include Spermatogenic Failure 35 and Male Infertility. An important paralog of this gene is C16orf96.

UniProtKB/Swiss-Prot Summary for QRICH2 Gene

  • Has an essential role in the formation of sperm flagella and flagellar structure maintainance. It acts as a suppressor of ubiquitination and degradation of proteins involved in flagellar development and motility.

Additional gene information for QRICH2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for QRICH2 Gene

Genomics for QRICH2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for QRICH2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around QRICH2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for QRICH2

Top Transcription factor binding sites by QIAGEN in the QRICH2 gene promoter:
  • AhR
  • Arnt
  • CUTL1
  • GATA-3
  • PPAR-gamma1
  • PPAR-gamma2
  • STAT5A
  • YY1

Genomic Locations for QRICH2 Gene

Latest Assembly
chr17:76,271,296-76,308,811
(GRCh38/hg38)
Size:
37,516 bases
Orientation:
Minus strand

Previous Assembly
chr17:74,270,130-74,303,761
(GRCh37/hg19 by Entrez Gene)
Size:
33,632 bases
Orientation:
Minus strand

chr17:74,270,130-74,303,761
(GRCh37/hg19 by Ensembl)
Size:
33,632 bases
Orientation:
Minus strand

Genomic View for QRICH2 Gene

Genes around QRICH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
QRICH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for QRICH2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for QRICH2 Gene

Proteins for QRICH2 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for QRICH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H0J4-QRIC2_HUMAN
    Recommended name:
    Glutamine-rich protein 2
    Protein Accession:
    Q9H0J4
    Secondary Accessions:
    • A2RRE1
    • Q96LM3

    Protein attributes for QRICH2 Gene

    Size:
    1663 amino acids
    Molecular mass:
    180827 Da
    Quaternary structure:
    • Interacts with AKAP3, ODF2 and TSSK4.
    SequenceCaution:
    • Sequence=BAB71667.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for QRICH2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for QRICH2 Gene

Protein Expression for QRICH2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for QRICH2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for QRICH2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for QRICH2 Gene

Domains & Families for QRICH2 Gene

Gene Families for QRICH2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for QRICH2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for QRICH2 Gene

GenScript: Design optimal peptide antigens:
  • Glutamine-rich protein 2 (QRIC2_HUMAN)
genes like me logo Genes that share domains with QRICH2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for QRICH2 Gene

Function for QRICH2 Gene

Products:

  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for QRICH2 Gene

UniProtKB/Swiss-Prot Function:
Has an essential role in the formation of sperm flagella and flagellar structure maintainance. It acts as a suppressor of ubiquitination and degradation of proteins involved in flagellar development and motility.

Phenotypes From GWAS Catalog for QRICH2 Gene

Gene Ontology (GO) - Molecular Function for QRICH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 30683861
genes like me logo Genes that share ontologies with QRICH2: view
genes like me logo Genes that share phenotypes with QRICH2: view

Human Phenotype Ontology for QRICH2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for QRICH2

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for QRICH2 Gene

Localization for QRICH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for QRICH2 Gene

Nucleus membrane. Nucleus. Cytoplasm. Cell projection, cilium, flagellum. Note=Localization varies during spermatozoa development. The protein is distributed in the nuclear membrane of the spermatogonia, in the nucleus of round spermatids, in the nucleus and cytoplasm of early elongating spermatids, in the cytoplasm of late elongating spermatids, and in the flagella of epididymal spermatozoa. {ECO:0000250 UniProtKB:Q3V2A7}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for QRICH2 gene
Compartment Confidence
nucleus 4
cytosol 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (2)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for QRICH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005929 cilium IEA --
GO:0016020 membrane IEA --
GO:0031514 motile cilium IEA --
genes like me logo Genes that share ontologies with QRICH2: view

Pathways & Interactions for QRICH2 Gene

PathCards logo

SuperPathways for QRICH2 Gene

No Data Available

Interacting Proteins for QRICH2 Gene

STRING Interaction Network Preview (showing top 2 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000262765 Q9H0J4-QRIC2_HUMAN for QRICH2 Gene via STRING IID

GPS-Prot Interaction Network for QRICH2

Gene Ontology (GO) - Biological Process for QRICH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030031 cell projection assembly IMP 30683861
GO:0030317 flagellated sperm motility IMP 30683861
GO:2000059 negative regulation of ubiquitin-dependent protein catabolic process IMP 30683861
genes like me logo Genes that share ontologies with QRICH2: view

No data available for Pathways by source and SIGNOR curated interactions for QRICH2 Gene

Drugs & Compounds for QRICH2 Gene

Products:

  1. Drug products for research
No Compound Related Data Available

Transcripts for QRICH2 Gene

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for QRICH2 Gene

2 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for QRICH2

Alternative Splicing Database (ASD) splice patterns (SP) for QRICH2 Gene

No ASD Table

Relevant External Links for QRICH2 Gene

GeneLoc Exon Structure for
QRICH2

Expression for QRICH2 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for QRICH2 Gene

mRNA expression in normal human tissues for QRICH2 Gene
mRNA expression by BioGPS for QRICH2 GenemRNA expression by GTEx for QRICH2 Gene

mRNA differential expression in normal tissues according to GTEx for QRICH2 Gene

This gene is overexpressed in Testis (x8.2).

Protein differential expression in normal tissues from HIPED for QRICH2 Gene

This gene is overexpressed in Nasal epithelium (66.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for QRICH2 Gene



Protein tissue co-expression partners for QRICH2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for QRICH2

SOURCE GeneReport for Unigene cluster for QRICH2 Gene:

Hs.252739

mRNA Expression by UniProt/SwissProt for QRICH2 Gene:

Q9H0J4-QRIC2_HUMAN
Tissue specificity: Expressed in the sperm.

Evidence on tissue expression from TISSUES for QRICH2 Gene

  • Blood(4.1)
genes like me logo Genes that share expression patterns with QRICH2: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for QRICH2 Gene

Orthologs for QRICH2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for QRICH2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia QRICH2 30 31
  • 98.44 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Qrich2 30 17 31
  • 82.63 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia QRICH2 30 31
  • 81.37 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia QRICH2 30 31
  • 73.92 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Qrich2 30
  • 67.46 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia QRICH2 31
  • 57 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia QRICH2 31
  • 24 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia QRICH2 31
  • 60 (a)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 43 (a)
 OneToOne
Species where no ortholog for QRICH2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for QRICH2 Gene

ENSEMBL:
Gene Tree for QRICH2 (if available)
TreeFam:
Gene Tree for QRICH2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for QRICH2: view image

Paralogs for QRICH2 Gene

Paralogs for QRICH2 Gene

(40) SIMAP similar genes for QRICH2 Gene using alignment to 4 proteins:

  • QRIC2_HUMAN
  • E9PPH7_HUMAN
  • H0YDB9_HUMAN
  • H7C0E3_HUMAN
genes like me logo Genes that share paralogs with QRICH2: view

Variants for QRICH2 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for QRICH2 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
932432 Uncertain Significance: not provided 76,292,402(-) TCCAGGTTGGACCAAA
NM_032134.2(QRICH2):c.1797_1826del (p.Ala600_Gly609del) 		INFRAME_DELETION
974676 Pathogenic: Spermatogenic failure 35 76,287,204(-) G/C
NM_032134.2(QRICH2):c.3501C>G (p.Tyr1167Ter) 		NONSENSE,NON_CODING_TRANSCRIPT
974677 Pathogenic: Spermatogenic failure 35 76,277,994(-) G/C
NM_032134.2(QRICH2):c.4614C>G (p.Tyr1538Ter) 		NONSENSE,NON_CODING_TRANSCRIPT
rs144208097 Spermatogenic failure 35 (SPGF35) [MIM:618341] p.Arg1494His
rs1567790522 Pathogenic: Spermatogenic failure 35 76,304,430(-) C/T
NM_032134.2(QRICH2):c.192G>A (p.Trp64Ter) 		NONSENSE,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for QRICH2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for QRICH2 Gene

Variant ID Type Subtype PubMed ID
esv21573 CNV loss 19812545
esv2430837 CNV deletion 19546169
esv2656914 CNV deletion 23128226
esv2670769 CNV deletion 23128226
esv2671805 CNV deletion 23128226
esv2673666 CNV deletion 23128226
esv2716250 CNV deletion 23290073
esv2716253 CNV deletion 23290073
esv3554793 CNV deletion 23714750
esv3554794 CNV deletion 23714750
esv3641280 CNV loss 21293372
esv3641281 CNV loss 21293372
esv3641282 CNV loss 21293372
esv3641283 CNV loss 21293372
nsv1139680 CNV duplication 24896259
nsv512502 CNV loss 21212237
nsv833547 CNV loss 17160897

Variation tolerance for QRICH2 Gene

Residual Variation Intolerance Score: 69.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 24.46; 99.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for QRICH2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
QRICH2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for QRICH2 Gene

Disorders for QRICH2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for QRICH2 Gene - From: OMI, CVR, GTR, COP, and GCD

Disorder Aliases PubMed IDs
spermatogenic failure 35
  • spgf35
male infertility
  • infertility male
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

QRIC2_HUMAN
  • Spermatogenic failure 35 (SPGF35) [MIM:618341]: An autosomal recessive infertility disorder caused by spermatogenesis defects that result in multiple abnormalities of sperm flagellum and severely impaired spermatozoa motility. {ECO:0000269 PubMed:30683861}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for QRICH2

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with QRICH2: view

No data available for Genatlas for QRICH2 Gene

Publications for QRICH2 Gene

  1. Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella. (PMID: 30683861) Shen Y … Xu W (Nature communications 2019) 3 4
  2. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4
  3. Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations. (PMID: 31292949) Kherraf ZE … Ray PF (Clinical genetics 2019) 3
  4. Author Correction: Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella. (PMID: 31110204) Shen Y … Xu W (Nature communications 2019) 74
  5. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. (PMID: 29676528) Khanna R … Parnaik VK (The FEBS journal 2018) 3

ExternalLinks

View latest publications for QRICH2 gene in Mastermind

Products for QRICH2 Gene

Sources for QRICH2 Gene