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Aliases for R3HDML Gene

Aliases for R3HDML Gene

  • R3H Domain Containing Like 2 3 5
  • Cysteine-Rich Secretory Protein R3HDML 3 4
  • R3H Domain (Binds Single-Stranded Nucleic Acids) Containing-Like 2
  • R3H Domain Containing-Like 2
  • Peptidase Inhibitor R3HDML 3
  • DJ881L22.3 3

External Ids for R3HDML Gene

Previous GeneCards Identifiers for R3HDML Gene

  • GC20U990180
  • GC20M042654
  • GC20P043605
  • GC20P043651
  • GC20P042399
  • GC20P042965
  • GC20P039703

Summaries for R3HDML Gene

GeneCards Summary for R3HDML Gene

R3HDML (R3H Domain Containing Like) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include peptidase inhibitor activity. An important paralog of this gene is PI15.

UniProtKB/Swiss-Prot for R3HDML Gene

  • Putative serine protease inhibitor.

Additional gene information for R3HDML Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for R3HDML Gene

Genomics for R3HDML Gene

GeneHancer (GH) Regulatory Elements for R3HDML Gene

Promoters and enhancers for R3HDML Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20I044336 Enhancer 0.4 ENCODE 550.8 -0.7 -720 0.1 MNT ZNF48 R3HDML FITM2
GH20I044350 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 0.4 +17.6 17602 8.1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF48 YY1 SLC30A9 ZNF213 LOC105372629 GC20P044356 HNF4A SRSF6 L3MBTL1 IFT52 OSER1 OSER1-AS1 MYBL2 ENSG00000201363
GH20I044326 Enhancer 1.1 FANTOM5 Ensembl ENCODE 0.4 -10.1 -10086 0.9 TFAP4 SAP130 NR2F1 BACH1 ZNF48 RARA TEAD3 ZGPAT POLR2A EGR1 KCNS1 R3HDML FITM2
GH20I044319 Enhancer 0.7 FANTOM5 0.4 -16.9 -16892 0.3 DRAP1 TFAP4 STAT1 ZNF3 PKNOX1 FOXA2 FOXA3 HLF FOXA1 POLR2A OSER1 FITM2 R3HDML
GH20I044324 Enhancer 0.4 ENCODE 0.4 -12.4 -12445 0.5 STAT1 POLR2A ZIC2 HNF4A LOC105372629 OSER1 FITM2 R3HDML
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around R3HDML on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the R3HDML gene promoter:

Genomic Locations for R3HDML Gene

Genomic Locations for R3HDML Gene
chr20:44,336,986-44,351,235
(GRCh38/hg38)
Size:
14,250 bases
Orientation:
Plus strand
chr20:42,965,626-42,979,875
(GRCh37/hg19)

Genomic View for R3HDML Gene

Genes around R3HDML on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
R3HDML Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for R3HDML Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for R3HDML Gene

Proteins for R3HDML Gene

  • Protein details for R3HDML Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H3Y0-CRSPL_HUMAN
    Recommended name:
    Peptidase inhibitor R3HDML
    Protein Accession:
    Q9H3Y0

    Protein attributes for R3HDML Gene

    Size:
    253 amino acids
    Molecular mass:
    28605 Da
    Quaternary structure:
    No Data Available

neXtProt entry for R3HDML Gene

Post-translational modifications for R3HDML Gene

No Post-translational modifications

Other Protein References for R3HDML Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for R3HDML Gene

Domains & Families for R3HDML Gene

Gene Families for R3HDML Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for R3HDML Gene

Suggested Antigen Peptide Sequences for R3HDML Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H3Y0

UniProtKB/Swiss-Prot:

CRSPL_HUMAN :
  • Belongs to the CRISP family.
Family:
  • Belongs to the CRISP family.
genes like me logo Genes that share domains with R3HDML: view

Function for R3HDML Gene

Molecular function for R3HDML Gene

UniProtKB/Swiss-Prot Function:
Putative serine protease inhibitor.

Phenotypes From GWAS Catalog for R3HDML Gene

Gene Ontology (GO) - Molecular Function for R3HDML Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with R3HDML: view
genes like me logo Genes that share phenotypes with R3HDML: view

Animal Model Products

  • Taconic Biosciences Mouse Models for R3HDML

miRNA for R3HDML Gene

miRTarBase miRNAs that target R3HDML

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for R3HDML Gene

Localization for R3HDML Gene

Subcellular locations from UniProtKB/Swiss-Prot for R3HDML Gene

Secreted.

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 R3HDML gene
Compartment Confidence
extracellular 4
nucleus 2
cytosol 1

Gene Ontology (GO) - Cellular Components for R3HDML Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with R3HDML: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for R3HDML Gene

Pathways & Interactions for R3HDML Gene

SuperPathways for R3HDML Gene

No Data Available

Interacting Proteins for R3HDML Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000217043%0d%0a9606.ENSP00000337853%0d%0a9606.ENSP00000381066%0d%0a9606.ENSP00000358622%0d%0a9606.ENSP00000376500%0d%0a9606.ENSP00000361359%0d%0a
Selected Interacting proteins: Q9H3Y0-CRSPL_HUMAN ENSP00000217043 for R3HDML Gene via IID STRING

Gene Ontology (GO) - Biological Process for R3HDML Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010466 negative regulation of peptidase activity IEA --
genes like me logo Genes that share ontologies with R3HDML: view

No data available for Pathways by source and SIGNOR curated interactions for R3HDML Gene

Drugs & Compounds for R3HDML Gene

No Compound Related Data Available

Transcripts for R3HDML Gene

mRNA/cDNA for R3HDML Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for R3HDML Gene

R3H domain containing-like:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for R3HDML Gene

No ASD Table

Relevant External Links for R3HDML Gene

GeneLoc Exon Structure for
R3HDML
ECgene alternative splicing isoforms for
R3HDML

Expression for R3HDML Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for R3HDML Gene

mRNA differential expression in normal tissues according to GTEx for R3HDML Gene

This gene is overexpressed in Colon - Transverse (x19.2), Small Intestine - Terminal Ileum (x6.3), and Testis (x6.0).

Protein differential expression in normal tissues from HIPED for R3HDML Gene

This gene is overexpressed in Liver (39.0) and Kidney (29.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for R3HDML Gene



Protein tissue co-expression partners for R3HDML Gene

NURSA nuclear receptor signaling pathways regulating expression of R3HDML Gene:

R3HDML

SOURCE GeneReport for Unigene cluster for R3HDML Gene:

Hs.580807
genes like me logo Genes that share expression patterns with R3HDML: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for R3HDML Gene

Orthologs for R3HDML Gene

This gene was present in the common ancestor of animals.

Orthologs for R3HDML Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia R3HDML 34 33
  • 99.21 (n)
OneToOne
dog
(Canis familiaris)
Mammalia R3HDML 33 34
  • 86.64 (n)
cow
(Bos Taurus)
Mammalia R3HDML 34 33
  • 85.19 (n)
OneToOne
mouse
(Mus musculus)
Mammalia R3hdml 33 16 34
  • 81.55 (n)
rat
(Rattus norvegicus)
Mammalia R3hdml 33
  • 79.84 (n)
oppossum
(Monodelphis domestica)
Mammalia R3HDML 34
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia R3HDML 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100858089 33
  • 67.72 (n)
R3HDML 34
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia R3HDML 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia r3hdml 33
  • 65.22 (n)
zebrafish
(Danio rerio)
Actinopterygii r3hdml 34
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8483 34
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea scl-23 34
  • 18 (a)
ManyToMany
scl-22 34
  • 12 (a)
ManyToMany
vap-1 34
  • 11 (a)
ManyToMany
Species where no ortholog for R3HDML was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • wheat (Triticum aestivum)

Evolution for R3HDML Gene

ENSEMBL:
Gene Tree for R3HDML (if available)
TreeFam:
Gene Tree for R3HDML (if available)

Paralogs for R3HDML Gene

(5) SIMAP similar genes for R3HDML Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with R3HDML: view

Variants for R3HDML Gene

Sequence variations from dbSNP and Humsavar for R3HDML Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000027733 -- 44,350,126(+) T/A intron_variant
rs1000100840 -- 44,351,027(+) G/C downstream_transcript_variant
rs1000102731 -- 44,350,103(+) A/G intron_variant
rs1000174398 -- 44,340,454(+) A/G intron_variant
rs1000250547 -- 44,344,648(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for R3HDML Gene

Variant ID Type Subtype PubMed ID
esv3645906 CNV gain 21293372
nsv1057847 CNV loss 25217958
nsv3389 CNV insertion 18451855
nsv586065 CNV gain 21841781

Variation tolerance for R3HDML Gene

Residual Variation Intolerance Score: 86.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.84; 67.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for R3HDML Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
R3HDML

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for R3HDML Gene

Disorders for R3HDML Gene

Additional Disease Information for R3HDML

No disorders were found for R3HDML Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for R3HDML Gene

Publications for R3HDML Gene

  1. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) Oláh J … Ovádi J (The Journal of biological chemistry 2011) 3 58
  2. A whole genome screen for HIV restriction factors. (PMID: 22082156) Liu L … McKnight A (Retrovirology 2011) 3 58
  3. Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians. (PMID: 22158537) Cho YS … Seielstad M (Nature genetics 2011) 3 58
  4. Comprehensive gene-based association study of a chromosome 20 linked region implicates novel risk loci for depressive symptoms in psychotic illness. (PMID: 22220189) Bigdeli TB … Fanous AH (PloS one 2011) 3 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 58

Products for R3HDML Gene

Sources for R3HDML Gene

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