This gene represents a pseudogene of the FERM and PDZ domain containing 2 gene (FRMPD2, GeneID 143162). Along with the functional gene, this gene is located in a region of segmental duplication on chromosome 10q. [provided by RefSeq, Dec 2014] See more...

Aliases for FRMPD2B Gene

Aliases for FRMPD2B Gene

  • FERM And PDZ Domain Containing 2B, Pseudogene 2 3 5
  • FERM And PDZ Domain Containing 2 Pseudogene 2 2 3
  • FERM And PDZ Domain Containing 2 Pseudogene 1 2 3
  • FERM And PDZ Domain Containing 2 Like 1 2 3
  • FERM And PDZ Domain Containing 2 Like 2 2 3
  • PDZ Domain Containing 5A 2 3
  • PDZ Domain Containing 5B 2 3
  • BA556L1.2 2 3
  • FRMPD2L1 3 4
  • FRMPD2L2 3 4
  • FRMPD2P1 3 4
  • FRMPD2P2 3 4
  • YX59F3.2 2 3
  • PDZD5A 3 4
  • PDZD5B 3 4
  • PDZK5A 3 4
  • PDZK5B 3 4
  • FERM And PDZ Domain-Containing Protein 2 Pseudogene 1 4
  • FERM And PDZ Domain-Containing Protein 2B Pseudogene 4
  • FERM And PDZ Domain-Containing Protein 2 3
  • PDZ Domain-Containing Protein 5C 3
  • PDZ Domain-Containing Protein 5A 4
  • PDZ Domain-Containing Protein 4 3
  • Putative Protein FRMPD2-Like 4
  • FRMPD2 Related 1 3
  • FRMPD2 Related 2 3
  • FRMPDP2 3
  • FRMPD2B 5
  • FRMPD2 3
  • PDZD5C 3
  • PDZK5C 3
  • PDZK4 3

External Ids for FRMPD2B Gene

Previous HGNC Symbols for FRMPD2B Gene

  • PDZK5A
  • PDZD5A
  • FRMPD2L1
  • FRMPD2P2
  • PDZK5B
  • PDZD5B
  • FRMPD2L2
  • FRMPD2P1

Previous GeneCards Identifiers for FRMPD2B Gene

  • GC10P046876
  • GC10P046878
  • GC10P046884
  • GC10P046885
  • GC10P046910

Summaries for FRMPD2B Gene

Entrez Gene Summary for FRMPD2B Gene

  • This gene represents a pseudogene of the FERM and PDZ domain containing 2 gene (FRMPD2, GeneID 143162). Along with the functional gene, this gene is located in a region of segmental duplication on chromosome 10q. [provided by RefSeq, Dec 2014]

GeneCards Summary for FRMPD2B Gene

FRMPD2B (FERM And PDZ Domain Containing 2B, Pseudogene) is a Pseudogene.

Additional gene information for FRMPD2B Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FRMPD2B Gene

Genomics for FRMPD2B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FRMPD2B 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
GH10J046871 Enhancer 0.2 Ensembl 600.7 +0.3 343 0.4 FRMPD2B LOC100420617 HSALNG0077792 PTPN20 SYT15
GH10J046878 Enhancer 0.2 Ensembl 0.4 +8.4 8411 1.5 FRMPD2B HSALNG0077792 PTPN20 SYT15
GH10J046896 Enhancer 0.2 Ensembl 0.3 +26.4 26443 1 HSALNG0077792 PTPN20 FRMPD2B SYT15
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FRMPD2B on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for FRMPD2B Gene

Genomic Locations for FRMPD2B Gene
chr10:46,870,858-46,895,326
(GRCh38/hg38)
Size:
24,469 bases
Orientation:
Plus strand
chr10:46,657,135-46,681,604
(GRCh37/hg19)
Size:
24,470 bases
Orientation:
Minus strand

Genomic View for FRMPD2B Gene

Genes around FRMPD2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FRMPD2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FRMPD2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FRMPD2B Gene

Proteins for FRMPD2B Gene

  • Protein details for FRMPD2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6IN97-FRP2L_HUMAN
    Recommended name:
    Putative protein FRMPD2-like
    Protein Accession:
    Q6IN97
    Secondary Accessions:
    • B2RPG2
    • Q5RJ30

    Protein attributes for FRMPD2B Gene

    Size:
    320 amino acids
    Molecular mass:
    35161 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FRMPD2B Gene

Post-translational modifications for FRMPD2B Gene

No Post-translational modifications

No data available for DME Specific Peptides for FRMPD2B Gene

Domains & Families for FRMPD2B Gene

Gene Families for FRMPD2B Gene

Protein Domains for FRMPD2B Gene

InterPro:
Blocks:
  • PDZ/DHR/GLGF domain
ProtoNet:

Suggested Antigen Peptide Sequences for FRMPD2B Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ78870, highly similar to Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 1, mRNA (B2RPG2_HUMAN)
  • FERM and PDZ domain containing 2 like 2 (B7ZML6_HUMAN)
  • PDZ domain-containing protein 5A (FRP2L_HUMAN)
genes like me logo Genes that share domains with FRMPD2B: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FRMPD2B Gene

Function for FRMPD2B Gene

genes like me logo Genes that share phenotypes with FRMPD2B: view

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for FRMPD2B Gene

Localization for FRMPD2B Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for FRMPD2B Gene

Pathways & Interactions for FRMPD2B Gene

PathCards logo

SuperPathways for FRMPD2B Gene

No Data Available

Interacting Proteins for FRMPD2B Gene

Selected Interacting proteins: Q6IN97-FRP2L_HUMAN for FRMPD2B Gene via IID

Gene Ontology (GO) - Biological Process for FRMPD2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070830 bicellular tight junction assembly IEA --
genes like me logo Genes that share ontologies with FRMPD2B: view

No data available for Pathways by source and SIGNOR curated interactions for FRMPD2B Gene

Drugs & Compounds for FRMPD2B Gene

No Compound Related Data Available

Transcripts for FRMPD2B Gene

mRNA/cDNA for FRMPD2B Gene

4 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for FRMPD2B Gene

No ASD Table

Relevant External Links for FRMPD2B Gene

GeneLoc Exon Structure for
FRMPD2B

Expression for FRMPD2B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FRMPD2B

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for FRMPD2B Gene

Orthologs for FRMPD2B Gene

Evolution for FRMPD2B Gene

ENSEMBL:
Gene Tree for FRMPD2B (if available)
TreeFam:
Gene Tree for FRMPD2B (if available)

No data available for Orthologs for FRMPD2B Gene

Paralogs for FRMPD2B Gene

No data available for Paralogs for FRMPD2B Gene

Variants for FRMPD2B Gene

Structural Variations from Database of Genomic Variants (DGV) for FRMPD2B Gene

Variant ID Type Subtype PubMed ID
dgv115e214 CNV gain 21293372
dgv124e214 CNV gain 21293372
dgv136e199 CNV deletion 23128226
dgv734n100 CNV gain 25217958
dgv737n100 CNV loss 25217958
dgv738n100 CNV loss 25217958
dgv739n100 CNV gain 25217958
dgv740n100 CNV gain+loss 25217958
dgv742n100 CNV loss 25217958
dgv743n100 CNV gain 25217958
esv3584617 CNV loss 24956385
nsv1042820 CNV gain+loss 25217958
nsv1068308 CNV deletion 25765185
nsv1069476 CNV deletion 25765185
nsv1143505 CNV deletion 24896259
nsv433259 CNV loss 18776910
nsv550716 CNV gain 21841781
nsv550717 CNV loss 21841781
nsv550719 CNV loss 21841781
nsv550720 CNV loss 21841781
nsv550803 CNV loss 21841781
nsv820767 CNV deletion 20802225
nsv820873 CNV deletion 20802225
nsv831850 CNV gain+loss 17160897
nsv831862 CNV gain 17160897
nsv947921 CNV duplication 23825009
nsv947966 CNV duplication 23825009

Additional Variant Information for FRMPD2B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FRMPD2B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP , Additional dbSNP identifiers (rs#s) and Variation tolerance for FRMPD2B Gene

Disorders for FRMPD2B Gene

Additional Disease Information for FRMPD2B

No disorders were found for FRMPD2B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FRMPD2B Gene

Publications for FRMPD2B Gene

  1. Transcriptional fates of human-specific segmental duplications in brain. (PMID: 30228200) Dougherty ML … Eichler EE (Genome research 2018) 3
  2. 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
  3. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3

Products for FRMPD2B Gene

Sources for FRMPD2B Gene