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Aliases for ELFN2 Gene

Aliases for ELFN2 Gene

  • Extracellular Leucine-Rich Repeat And Fibronectin Type III Domain Containing 2 2 3 5
  • Leucine-Rich Repeat And Fibronectin Type-III Domain-Containing Protein 6 3 4
  • Leucine-Rich Repeat-Containing Protein 62 3 4
  • PPP1R29 3 4
  • LRRC62 3 4
  • Extracellular Leucine-Rich Repeat And Fibronectin Type III Domain-Containing Protein 2 4
  • Extracellular Leucine-Rich Repeat And Fibronectin Type III Containing 2 2
  • Protein Phosphatase 1, Regulatory Subunit 29 2
  • DJ63G5.3 (Putative Leucine Rich Protein) 3
  • Leucine Rich Repeat Containing 62 2
  • KIAA1904 4

External Ids for ELFN2 Gene

Previous HGNC Symbols for ELFN2 Gene

  • LRRC62
  • PPP1R29

Previous GeneCards Identifiers for ELFN2 Gene

  • GC22M036094
  • GC22M037764
  • GC22M020729
  • GC22M037367
  • GC22M037342

Summaries for ELFN2 Gene

GeneCards Summary for ELFN2 Gene

ELFN2 (Extracellular Leucine-Rich Repeat And Fibronectin Type III Domain Containing 2) is a Protein Coding gene. GO annotations related to this gene include phosphatase binding and protein phosphatase inhibitor activity. An important paralog of this gene is SLITRK4.

UniProtKB/Swiss-Prot for ELFN2 Gene

  • Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ELFN2 Gene

Genomics for ELFN2 Gene

Regulatory Elements for ELFN2 Gene

Promoters for ELFN2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ELFN2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ELFN2 Gene

Chromosome:
22
Start:
37,340,644 bp from pter
End:
37,427,470 bp from pter
Size:
86,827 bases
Orientation:
Minus strand

Genomic View for ELFN2 Gene

Genes around ELFN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELFN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELFN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELFN2 Gene

Proteins for ELFN2 Gene

  • Protein details for ELFN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5R3F8-PPR29_HUMAN
    Recommended name:
    Protein phosphatase 1 regulatory subunit 29
    Protein Accession:
    Q5R3F8
    Secondary Accessions:
    • Q96PY3

    Protein attributes for ELFN2 Gene

    Size:
    820 amino acids
    Molecular mass:
    89687 Da
    Quaternary structure:
    • Interacts with PPP1CA.
    SequenceCaution:
    • Sequence=BAB67797.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for ELFN2 Gene

Proteomics data for ELFN2 Gene at MOPED

Post-translational modifications for ELFN2 Gene

  • Glycosylation at Asn 54, Asn 80, Asn 85, Asn 117, Asn 205, and Asn 247
  • Modification sites at PhosphoSitePlus

Other Protein References for ELFN2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ELFN2 Gene

Domains & Families for ELFN2 Gene

Suggested Antigen Peptide Sequences for ELFN2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5R3F8

UniProtKB/Swiss-Prot:

PPR29_HUMAN :
  • Contains 1 fibronectin type-III domain.
  • Contains 5 LRR (leucine-rich) repeats.
Domain:
  • Contains 1 fibronectin type-III domain.
  • Contains 1 LRRCT domain.
Similarity:
  • Contains 5 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with ELFN2: view

Function for ELFN2 Gene

Molecular function for ELFN2 Gene

UniProtKB/Swiss-Prot Function:
Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes.

Gene Ontology (GO) - Molecular Function for ELFN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with ELFN2: view
genes like me logo Genes that share phenotypes with ELFN2: view

Animal Models for ELFN2 Gene

MGI Knock Outs for ELFN2:

Animal Model Products

  • Taconic Biosciences Mouse Models for ELFN2

miRNA for ELFN2 Gene

miRTarBase miRNAs that target ELFN2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ELFN2 Gene

Localization for ELFN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELFN2 Gene

Membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ELFN2 Gene COMPARTMENTS Subcellular localization image for ELFN2 gene
Compartment Confidence
extracellular 5
nucleus 2
plasma membrane 2
endoplasmic reticulum 1
golgi apparatus 1

No data available for Gene Ontology (GO) - Cellular Components for ELFN2 Gene

Pathways & Interactions for ELFN2 Gene

SuperPathways for ELFN2 Gene

No Data Available

Interacting Proteins for ELFN2 Gene

Gene Ontology (GO) - Biological Process for ELFN2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ELFN2 Gene

Drugs & Compounds for ELFN2 Gene

No Compound Related Data Available

Transcripts for ELFN2 Gene

mRNA/cDNA for ELFN2 Gene

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

Unigene Clusters for ELFN2 Gene

Extracellular leucine-rich repeat and fibronectin type III domain containing 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ELFN2 Gene

No ASD Table

Relevant External Links for ELFN2 Gene

GeneLoc Exon Structure for
ELFN2
ECgene alternative splicing isoforms for
ELFN2

Expression for ELFN2 Gene

mRNA expression in normal human tissues for ELFN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ELFN2 Gene

This gene is overexpressed in Brain - Cortex (x7.0), Brain - Anterior cingulate cortex (BA24) (x6.4), Brain - Frontal Cortex (BA9) (x6.4), Brain - Amygdala (x5.8), Brain - Hippocampus (x5.7), and Brain - Nucleus accumbens (basal ganglia) (x4.1).

Protein differential expression in normal tissues from HIPED for ELFN2 Gene

This gene is overexpressed in Platelet (37.5) and Fetal Brain (21.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for ELFN2 Gene



SOURCE GeneReport for Unigene cluster for ELFN2 Gene Hs.660812

genes like me logo Genes that share expression patterns with ELFN2: view

Protein tissue co-expression partners for ELFN2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for ELFN2 Gene

Orthologs for ELFN2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ELFN2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ELFN2 35
  • 91.34 (n)
  • 95.12 (a)
ELFN2 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ELFN2 35
  • 93.54 (n)
  • 97.67 (a)
mouse
(Mus musculus)
Mammalia Elfn2 35
  • 89.43 (n)
  • 95.98 (a)
Elfn2 16
Elfn2 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ELFN2 35
  • 99.41 (n)
  • 99.75 (a)
ELFN2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Elfn2-ps1 35
  • 89.05 (n)
  • 95.73 (a)
oppossum
(Monodelphis domestica)
Mammalia ELFN2 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ELFN2 36
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves ELFN2 35
  • 77.56 (n)
  • 82.23 (a)
ELFN2 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ELFN2 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia elfn2 35
  • 67.05 (n)
  • 73.9 (a)
zebrafish
(Danio rerio)
Actinopterygii elfn2a 35
  • 62.77 (n)
  • 63.32 (a)
elfn2 36
  • 58 (a)
OneToMany
ELFN2 (2 of 2) 36
  • 55 (a)
OneToMany
Species with no ortholog for ELFN2:
  • 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)
  • 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 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)
  • worm (Caenorhabditis elegans)

Evolution for ELFN2 Gene

ENSEMBL:
Gene Tree for ELFN2 (if available)
TreeFam:
Gene Tree for ELFN2 (if available)

Paralogs for ELFN2 Gene

Paralogs for ELFN2 Gene

(1) SIMAP similar genes for ELFN2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ELFN2: view

Variants for ELFN2 Gene

Sequence variations from dbSNP and Humsavar for ELFN2 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs133714 -- 37,428,278(-) GGAAG(C/G)CTAAT upstream-variant-2KB
rs133715 -- 37,428,232(-) TTGGA(C/G)TTACT upstream-variant-2KB
rs133716 -- 37,428,231(-) TGGAG(C/T)TACTC upstream-variant-2KB
rs133717 -- 37,426,650(-) tgtgt(G/T)tgtgt intron-variant
rs133718 -- 37,426,451(-) CTGTA(C/T)ACACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ELFN2 Gene

Variant ID Type Subtype PubMed ID
nsv829203 CNV Loss 20364138
nsv834188 CNV Loss 17160897
nsv834189 CNV Gain+Loss 17160897
nsv817992 CNV Gain 17921354
nsv834190 CNV Loss 17160897
nsv471196 CNV Loss 18288195
dgv4961n71 CNV Loss 21882294
nsv915023 CNV Loss 21882294
dgv4962n71 CNV Loss 21882294
esv1001650 CNV Deletion 20482838
dgv4963n71 CNV Loss 21882294
esv2724209 CNV Deletion 23290073
esv2724210 CNV Deletion 23290073
nsv915028 CNV Loss 21882294
nsv915029 CNV Loss 21882294
esv2724211 CNV Deletion 23290073
esv2724212 CNV Deletion 23290073
esv2724213 CNV Deletion 23290073
esv33451 CNV Gain 17666407

Variation tolerance for ELFN2 Gene

Residual Variation Intolerance Score: 36.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.54; 44.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ELFN2 Gene

HapMap Linkage Disequilibrium report
ELFN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELFN2 Gene

Disorders for ELFN2 Gene

Relevant External Links for ELFN2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ELFN2

No disorders were found for ELFN2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ELFN2 Gene

Publications for ELFN2 Gene

  1. Docking motif-guided mapping of the interactome of protein phosphatase-1. (PMID: 19389623) Hendrickx A. … Bollen M. (Chem. Biol. 2009) 3 4 67
  2. The extracellular leucine-rich repeat superfamily; a comparative survey and analysis of evolutionary relationships and expression patterns. (PMID: 17868438) Dolan J. … Mitchell K.J. (BMC Genomics 2007) 2 3
  3. Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases. (PMID: 24709693) Cobb J. … Thomson W. (Pharmacogenomics J. 2014) 3
  4. Comparison of tear protein levels in breast cancer patients and healthy controls using a de novo proteomic approach. (PMID: 22664934) BAPhm D. … Grus F.H. (Oncol. Rep. 2012) 3
  5. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L. … Andersson-Svahn H. (Mol. Cell Proteomics 2008) 3

Products for ELFN2 Gene

Sources for ELFN2 Gene

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