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Aliases for FRMPD3 Gene

Aliases for FRMPD3 Gene

  • FERM And PDZ Domain Containing 3 2 3 5
  • KIAA1817 4
  • EC 6.1.1 56
  • EC 3.6.1 56

External Ids for FRMPD3 Gene

Previous GeneCards Identifiers for FRMPD3 Gene

  • GC0XP106652
  • GC0XP106765

Summaries for FRMPD3 Gene

Entrez Gene Summary for FRMPD3 Gene

  • This gene encodes a protein that contains a PDZ (post synaptic density protein (PSD95), Drosophila disc large tumor suppressor (Dlg1), and zonula occludens-1 protein (zo-1) domain at the N-terminus followed by a FERM domain. The encoded protein is involved in signal transduction. The PDZ domain is thought to function in protein-protein interactions, mainly by binding to specific C-terminal peptides of other proteins. The FERM domain is found in proteins that are localized to the plasma membrane and are associated with the cytoskeleton. [provided by RefSeq, May 2017]

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.

Additional gene information for FRMPD3 Gene

No data available for 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

GeneHancer (GH) Regulatory Elements for FRMPD3 Gene

Promoters and enhancers for FRMPD3 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
GH0XI107117 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 8.2 -404.0 -403971 2.2 PKNOX1 FOXA2 SIN3A ZNF2 YY1 ETS1 ZNF143 SP3 MAFF NR2C1 RBM41 FRMPD3 MYCLP1 RNF128 PIR50761 NUP62CL
GH0XI107560 Enhancer 0.9 Ensembl ENCODE 13 +41.7 41680 6.4 BCOR ZFP64 ZMYM3 RFX5 CHAMP1 RFXANK ADNP NFYB FOS ZBTB20 FRMPD3 TBC1D8B GC0XM107573 FRMPD3-AS1
GH0XI107484 Enhancer 0.8 ENCODE 13.8 -37.7 -37722 1 MEIS2 CTCF KLF1 PKNOX1 ATF1 ZBTB21 KLF17 SIN3A EBF1 ZIC2 FRMPD3 KRT18P49
GH0XI107324 Enhancer 0.9 Ensembl ENCODE 9.2 -197.6 -197582 0.6 CTCF SIN3A CEBPG RAD21 ZNF335 POLR2A ZNF143 SP3 MAZ SP2 FRMPD3 DNAJA1P3 MYCLP1
GH0XI107154 Enhancer 1 Ensembl ENCODE 8 -367.3 -367259 1.4 ZNF335 EGR1 ZSCAN5C FOS SMAD5 ZNF592 PRDM4 ZBTB26 MGA ZKSCAN1 RBM41 FRMPD3 MYCLP1 GC0XM107132 GC0XP107201 GC0XP107200 NUP62CL
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FRMPD3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FRMPD3 gene promoter:

Genomic Locations for FRMPD3 Gene

Genomic Locations for FRMPD3 Gene
chrX:107,522,450-107,605,251
(GRCh38/hg38)
Size:
82,802 bases
Orientation:
Plus strand
chrX:106,765,680-106,848,481
(GRCh37/hg19)

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

No data available for Molecular function , Phenotypes From GWAS Catalog , 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 and Subcellular locations from the Human Protein Atlas (HPA) 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

Drugs & Compounds for FRMPD3 Gene

No Compound Related Data Available

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 33 34
  • 99.5 (n)
mouse
(Mus musculus)
Mammalia Frmpd3 34
  • 93 (a)
OneToOne
LOC101055948 33
  • 88.29 (n)
cow
(Bos Taurus)
Mammalia FRMPD3 33 34
  • 91.29 (n)
dog
(Canis familiaris)
Mammalia FRMPD3 33 34
  • 89.42 (n)
rat
(Rattus norvegicus)
Mammalia RGD1563753 33
  • 88.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 83 (a)
OneToMany
-- 34
  • 75 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia FRMPD3 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves FRMPD3 33 34
  • 70.07 (n)
lizard
(Anolis carolinensis)
Reptilia FRMPD3 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia frmpd3 33
  • 62.54 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC798302 33
  • 60.13 (n)
FRMPD3 34
  • 48 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42788 34
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea frm-8 34
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs776539807 benign, Abnormality of neuronal migration 107,600,543(+) G/A/T coding_sequence_variant, missense_variant
rs1000000158 -- 107,587,149(+) T/C intron_variant
rs1000017439 -- 107,590,176(+) A/C intron_variant
rs1000117109 -- 107,530,174(+) T/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000157004 -- 107,550,140(+) G/A coding_sequence_variant, intron_variant, missense_variant

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)

Additional Variant Information 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

Additional Disease Information for 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 research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4 58
  2. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 58
  3. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L … Andersson-Svahn H (Molecular & cellular proteomics : MCP 2008) 3 58
  4. Global mapping of herpesvirus-host protein complexes reveals a transcription strategy for late genes. (PMID: 25544563) Davis ZH … Glaunsinger BA (Molecular cell 2015) 3

Products for FRMPD3 Gene

Sources for FRMPD3 Gene

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