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Aliases for FRMPD3 Gene

Aliases for FRMPD3 Gene

  • FERM And PDZ Domain Containing 3 2 3 5
  • FERM And PDZ Domain-Containing Protein 3 3
  • RP5-1070B1.1 3
  • KIAA1817 4
  • EC 6.1.1 61
  • EC 3.6.1 61

External Ids for FRMPD3 Gene

Previous GeneCards Identifiers for FRMPD3 Gene

  • GC0XP106652
  • GC0XP106765

Summaries for FRMPD3 Gene

GeneCards Summary for FRMPD3 Gene

FRMPD3 (FERM And PDZ Domain Containing 3) is a Protein Coding gene. Among its related pathways are Innate Immune System. An important paralog of this gene is FRMPD4.

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FRMPD3 Gene

Genomics for FRMPD3 Gene

Regulatory Elements for FRMPD3 Gene

Enhancers for FRMPD3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG107560 1 Ensembl ENCODE 13 +41.7 41680 6.4 BCOR ZSCAN4 ZFP64 TEAD4 ZMYM3 CHAMP1 RFX5 RFXANK NFYB ADNP FRMPD3 TBC1D8B GC0XM107573 FRMPD3-AS1
GH0XG107484 0.8 ENCODE 13.8 -37.7 -37722 1.0 PKNOX1 ATF1 KLF17 RAD21 ZNF2 ZNF335 GLIS2 CREM ZNF263 TSHZ1 FRMPD3 KRT18P49
GH0XG107324 1 Ensembl ENCODE 9.2 -197.6 -197583 0.6 CTCF SIN3A CEBPG RAD21 POLR2A SP3 MAZ MIER1 SP2 CEBPB FRMPD3 DNAJA1P3 MYCLP1
GH0XG107154 1.1 Ensembl ENCODE 8 -367.3 -367260 1.4 CTCF PKNOX1 ZNF175 RAD21 ZKSCAN1 FOSL1 ZNF324 ZFHX2 POLR2A EGR1 RBM41 FRMPD3 MYCLP1 GC0XM107132 GC0XP107201 GC0XP107200
GH0XG107134 1.1 Ensembl ENCODE 8 -386.0 -386032 3.4 TBP NFRKB ZBTB40 GTF3C2 EGR1 FOS JUNB CEBPB ZNF592 MAFF PIH1D3 NUP62CL FRMPD3 MYCLP1 LOC644563 GC0XM107132
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FRMPD3 on UCSC Golden Path with GeneCards custom track

Genomic Location for FRMPD3 Gene

Chromosome:
X
Start:
107,522,450 bp from pter
End:
107,605,251 bp from pter
Size:
82,802 bases
Orientation:
Plus strand

Genomic View for FRMPD3 Gene

Genes around FRMPD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FRMPD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FRMPD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FRMPD3 Gene

Proteins for FRMPD3 Gene

  • Protein details for FRMPD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5JV73-FRPD3_HUMAN
    Recommended name:
    FERM and PDZ domain-containing protein 3
    Protein Accession:
    Q5JV73
    Secondary Accessions:
    • Q96JK8

    Protein attributes for FRMPD3 Gene

    Size:
    1810 amino acids
    Molecular mass:
    199209 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAI42175.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI42749.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for FRMPD3 Gene

Selected DME Specific Peptides for FRMPD3 Gene

Q5JV73:
  • YDEIPVT
  • LFSATFP

Post-translational modifications for FRMPD3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FRMPD3 Gene

Domains & Families for FRMPD3 Gene

Gene Families for FRMPD3 Gene

Suggested Antigen Peptide Sequences for FRMPD3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FRMPD3: view

No data available for UniProtKB/Swiss-Prot for FRMPD3 Gene

Function for FRMPD3 Gene

Enzyme Numbers (IUBMB) for FRMPD3 Gene

genes like me logo Genes that share phenotypes with FRMPD3: view

Animal Model Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FRMPD3 Gene

Localization for FRMPD3 Gene

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 FRMPD3 gene
Compartment Confidence
plasma membrane 4
nucleus 3
cytoskeleton 2
cytosol 2

Gene Ontology (GO) - Cellular Components for FRMPD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane TAS --
GO:0030667 secretory granule membrane TAS --
GO:0070821 tertiary granule membrane TAS --
genes like me logo Genes that share ontologies with FRMPD3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FRMPD3 Gene

Pathways & Interactions for FRMPD3 Gene

genes like me logo Genes that share pathways with FRMPD3: view

Pathways by source for FRMPD3 Gene

3 Reactome pathways for FRMPD3 Gene

Interacting Proteins for FRMPD3 Gene

Gene Ontology (GO) - Biological Process for FRMPD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with FRMPD3: view

No data available for SIGNOR curated interactions for FRMPD3 Gene

Transcripts for FRMPD3 Gene

mRNA/cDNA for FRMPD3 Gene

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

Unigene Clusters for FRMPD3 Gene

FERM and PDZ domain containing 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FRMPD3 Gene

No ASD Table

Relevant External Links for FRMPD3 Gene

GeneLoc Exon Structure for
FRMPD3
ECgene alternative splicing isoforms for
FRMPD3

Expression for FRMPD3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FRMPD3 Gene

mRNA differential expression in normal tissues according to GTEx for FRMPD3 Gene

This gene is overexpressed in Brain - Cerebellum (x6.6), Brain - Cerebellar Hemisphere (x6.2), Brain - Hypothalamus (x4.6), and Thyroid (x4.1).

Protein differential expression in normal tissues from HIPED for FRMPD3 Gene

This gene is overexpressed in CD4 Tcells (34.8), Plasma (13.1), and Pancreatic juice (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FRMPD3 Gene



NURSA nuclear receptor signaling pathways regulating expression of FRMPD3 Gene:

FRMPD3

SOURCE GeneReport for Unigene cluster for FRMPD3 Gene:

Hs.496546

Evidence on tissue expression from TISSUES for FRMPD3 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with FRMPD3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FRMPD3 Gene

Orthologs for FRMPD3 Gene

This gene was present in the common ancestor of animals.

Orthologs for FRMPD3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FRMPD3 34 35
  • 99.5 (n)
mouse
(Mus musculus)
Mammalia Frmpd3 35
  • 93 (a)
OneToOne
LOC101055948 34
  • 88.29 (n)
cow
(Bos Taurus)
Mammalia FRMPD3 34 35
  • 91.29 (n)
dog
(Canis familiaris)
Mammalia FRMPD3 34 35
  • 89.42 (n)
rat
(Rattus norvegicus)
Mammalia RGD1563753 34
  • 88.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 83 (a)
OneToMany
-- 35
  • 75 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia FRMPD3 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves FRMPD3 34 35
  • 70.07 (n)
lizard
(Anolis carolinensis)
Reptilia FRMPD3 35
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia frmpd3 34
  • 62.54 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC798302 34
  • 60.13 (n)
FRMPD3 35
  • 48 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42788 35
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea frm-8 35
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 35 (a)
OneToMany
Species where no ortholog for FRMPD3 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 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 FRMPD3 Gene

ENSEMBL:
Gene Tree for FRMPD3 (if available)
TreeFam:
Gene Tree for FRMPD3 (if available)

Paralogs for FRMPD3 Gene

Paralogs for FRMPD3 Gene

genes like me logo Genes that share paralogs with FRMPD3: view

Variants for FRMPD3 Gene

Sequence variations from dbSNP and Humsavar for FRMPD3 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs776539807 Benign 107,600,543(+) TGGGC(A/G/T)CCCGG reference, missense
rs1000000158 -- 107,587,149(+) ACATA(C/T)ATATT intron-variant
rs1000017439 -- 107,590,176(+) AAAAA(A/C)CTGAT intron-variant
rs1000117109 -- 107,530,174(+) GGAGG(C/T)CCACT intron-variant, upstream-variant-2KB
rs1000157004 -- 107,550,140(+) TGATG(A/G)TCGGA intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for FRMPD3 Gene

Variant ID Type Subtype PubMed ID
nsv510853 CNV deletion 20534489
nsv7030 CNV insertion 18451855

Variation tolerance for FRMPD3 Gene

Gene Damage Index Score: 3.11; 51.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FRMPD3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FRMPD3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FRMPD3 Gene

Disorders for FRMPD3 Gene

Relevant External Links for FRMPD3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FRMPD3

No disorders were found for FRMPD3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FRMPD3 Gene

Publications for FRMPD3 Gene

  1. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11347906) Nagase T. … Ohara O. (DNA Res. 2001) 2 3 4 64
  2. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4 64
  3. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L. … Andersson-Svahn H. (Mol. Cell Proteomics 2008) 3 64

Products for FRMPD3 Gene

Sources for FRMPD3 Gene

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