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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
  • Protein Phosphatase 1 Regulatory Subunit 29 3
  • 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
  • GC22M037344
  • GC22M039791
  • GC22M040467
  • GC22M040893

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 ELFN1.

UniProtKB/Swiss-Prot for ELFN2 Gene

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

Additional gene information for ELFN2 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 ELFN2 Gene

Genomics for ELFN2 Gene

Regulatory Elements for ELFN2 Gene

Enhancers for ELFN2 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
GH22H037430 1.5 Ensembl ENCODE dbSUPER 20.5 -4.7 -4714 2.5 SIN3A FEZF1 BRCA1 GLIS2 ZNF143 FOS RUNX3 SP3 JUNB TSHZ1 ELFN2 ANKRD54 MFNG PLA2G6 IL2RB TEX33 GC22P037457
GH22H037416 1.1 FANTOM5 ENCODE dbSUPER 21.7 +10.5 10460 0.2 PKNOX1 MXI1 RFX1 POLR2A MAX MNT ELFN2 PDXP TRIOBP GC22M042215 GC22P037425
GH22H037259 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11 +168.0 167953 1 HDAC1 PKNOX1 RAD21 BRCA1 GATA2 ZNF143 CREM IKZF2 SMARCA5 SMAD5 CYTH4 IL2RB ELFN2 ENSG00000243902 ENSG00000229971 ENSG00000226233 PIR54573 RAC2 GC22P037275
GH22H037325 1.4 Ensembl ENCODE dbSUPER 12.5 +97.9 97914 7.3 PKNOX1 KLF17 BMI1 RAD21 YY1 GLIS2 EGR1 ZNF366 ZNF143 FOS ENSG00000243902 ELFN2 CSNK1E CYTH4 ENSG00000225867 CDC42EP1 LOC100506271 LOC105373024 GC22M037293
GH22H037498 1.6 Ensembl ENCODE dbSUPER 10.9 -74.4 -74408 6.8 HDGF FOXA2 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 PAF1 ENSG00000225867 CDC42EP1 ELFN2 ENSG00000243902 CYTH4 CARD10 BAIAP2L2 GC22P037518 MFNG
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ELFN2 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for ELFN2 Gene

Genomic Locations for ELFN2 Gene
86,827 bases
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:
    Recommended name:
    Protein phosphatase 1 regulatory subunit 29
    Protein Accession:
    Secondary Accessions:
    • Q96PY3

    Protein attributes for ELFN2 Gene

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

neXtProt entry for ELFN2 Gene

Post-translational modifications for ELFN2 Gene

  • Glycosylation at isoforms=54, posLast=8080, posLast=8585, posLast=117117, posLast=205205, and posLast=247247
  • 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

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

No data available for UniProtKB/Swiss-Prot for ELFN2 Gene

Function for ELFN2 Gene

Molecular function for ELFN2 Gene

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

Phenotypes From GWAS Catalog for ELFN2 Gene

Gene Ontology (GO) - Molecular Function for ELFN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004864 protein phosphatase inhibitor activity IEA --
GO:0019902 phosphatase binding IDA 19389623
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:

miRNA for ELFN2 Gene

miRTarBase miRNAs that target ELFN2

Clone Products

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

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 ELFN2 gene
Compartment Confidence
extracellular 5
plasma membrane 2
nucleus 2
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ELFN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22664934
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ELFN2: view

Pathways & Interactions for ELFN2 Gene

SuperPathways for ELFN2 Gene

No Data Available

Interacting Proteins for ELFN2 Gene

Selected Interacting proteins: Q5R3F8-PPR29_HUMAN for ELFN2 Gene via IID

Symbol External ID(s) Details

Gene Ontology (GO) - Biological Process for ELFN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010923 negative regulation of phosphatase activity IDA 19389623
genes like me logo Genes that share ontologies with ELFN2: view

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

Unigene Clusters for ELFN2 Gene

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

Clone Products

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

No ASD Table

Relevant External Links for ELFN2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ELFN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ELFN2 Gene

Protein tissue co-expression partners for ELFN2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ELFN2 Gene:


SOURCE GeneReport for Unigene cluster for ELFN2 Gene:


Evidence on tissue expression from TISSUES for ELFN2 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with ELFN2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia ELFN2 33 34
  • 99.41 (n)
(Canis familiaris)
Mammalia ELFN2 33
  • 93.54 (n)
(Bos Taurus)
Mammalia ELFN2 33 34
  • 91.34 (n)
(Mus musculus)
Mammalia Elfn2 16 34 33
  • 89.43 (n)
(Rattus norvegicus)
Mammalia Elfn2-ps1 33
  • 89.05 (n)
(Monodelphis domestica)
Mammalia ELFN2 34
  • 87 (a)
(Ornithorhynchus anatinus)
Mammalia ELFN2 34
  • 82 (a)
(Gallus gallus)
Aves ELFN2 33 34
  • 77.56 (n)
(Anolis carolinensis)
Reptilia ELFN2 34
  • 81 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia elfn2 33
  • 67.05 (n)
(Danio rerio)
Actinopterygii elfn2a 33
  • 62.77 (n)
elfn2 34
  • 58 (a)
ELFN2 (2 of 2) 34
  • 55 (a)
Species where no ortholog for ELFN2 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)
  • 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

Gene Tree for ELFN2 (if available)
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
rs1000007446 -- 37,343,501(+) CCCCG(G/T)CCTGG intron-variant
rs1000008404 -- 37,378,173(+) CACAC(A/G)TCCTC intron-variant
rs1000010647 -- 37,356,820(+) CCACA(A/G)CACTA intron-variant, upstream-variant-2KB
rs1000134549 -- 37,351,826(+) CCCAT(G/T)TCAAA intron-variant, downstream-variant-500B
rs1000138849 -- 37,368,294(+) AGGGA(C/G)GGAGG intron-variant, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv834190 CNV loss 17160897
nsv834189 CNV gain+loss 17160897
nsv834188 CNV loss 17160897
nsv829203 CNV loss 20364138
nsv817992 CNV gain 17921354
nsv589005 CNV loss 21841781
nsv589004 CNV loss 21841781
nsv588998 CNV loss 21841781
nsv588990 CNV loss 21841781
nsv528254 CNV loss 19592680
nsv471196 CNV loss 18288195
nsv1152015 CNV deletion 26484159
esv3893480 CNV gain 25118596
esv3647708 CNV loss 21293372
esv3568389 CNV loss 25503493
esv3558145 CNV deletion 23714750
esv33451 CNV gain 17666407
esv2763262 CNV gain 21179565
esv2724213 CNV deletion 23290073
esv2724212 CNV deletion 23290073
esv2724211 CNV deletion 23290073
esv2724210 CNV deletion 23290073
esv2724209 CNV deletion 23290073
esv2675967 CNV deletion 23128226
esv2422033 CNV deletion 20811451
esv22685 CNV loss 19812545
esv1001650 CNV deletion 20482838
dgv8103n54 CNV loss 21841781
dgv8102n54 CNV loss 21841781
dgv8101n54 CNV loss 21841781
dgv4565n100 CNV gain 25217958

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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:

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 (Chemistry & biology 2009) 3 4 60
  2. The extracellular leucine-rich repeat superfamily; a comparative survey and analysis of evolutionary relationships and expression patterns. (PMID: 17868438) Dolan J … Mitchell KJ (BMC genomics 2007) 2 3 60
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 60
  4. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PMID: 11572484) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 3 4 60
  5. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 3 4 60

Products for ELFN2 Gene

Sources for ELFN2 Gene

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