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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

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.

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

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
GH22F037430 1.2 Ensembl ENCODE 20.5 -4.7 -4714 2.5 INSM2 KLF17 SIN3A FEZF1 BRCA1 ZEB1 RFX5 GLIS2 ZNF366 ZNF143 ELFN2 MFNG IL2RB TEX33 GC22P037457
GH22F037416 0.8 FANTOM5 ENCODE 21.7 +10.5 10460 0.2 PKNOX1 RFX1 MAX ELFN2 PDXP TRIOBP GC22M041397 GC22P037412
GH22F037409 0.8 Ensembl 20.6 +17.0 16970 1.4 PKNOX1 ARID4B YY1 ZNF121 GLIS2 ZNF766 POLR2A ZNF600 ZSCAN29 PRDM10 ELFN2 GGA1 GC22P037412 GC22M041397
GH22F037258 1.4 FANTOM5 Ensembl ENCODE 11.3 +167.4 167370 2.6 HDGF HDAC1 RAD21 ZNF121 GLIS2 GATA2 ZNF143 CREM ZNF654 ZBTB2 CYTH4 ENSG00000235237 ELFN2 ENSG00000243902 IL2RB ENSG00000229971 ENSG00000226233 PIR54573 GC22P037275 RAC2
GH22F037325 1.2 Ensembl ENCODE 12.5 +97.9 97914 7.3 PKNOX1 KLF17 BMI1 RAD21 YY1 GLIS2 ZNF366 FOS EGR2 ZNF362 ELFN2 ENSG00000243902 CYTH4 ENSG00000225867 CDC42EP1 LOC100506271 LOC105373024 GC22M037293
- 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
ENSR00000617968 -30 1001 INSM2 HIC1 ZFHX2 GLIS2 PATZ1 EGR2 ZBTB10 SP3 PHF8 MAZ

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

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: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:

Animal Model Products

  • Taconic Biosciences Mouse Models for ELFN2

miRNA for ELFN2 Gene

miRTarBase miRNAs that target ELFN2

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

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

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
PPP1CA
YWHAE

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

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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and 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:

ELFN2

SOURCE GeneReport for Unigene cluster for ELFN2 Gene:

Hs.660812
genes like me logo Genes that share expression patterns with ELFN2: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia ELFN2 34 35
  • 99.41 (n)
dog
(Canis familiaris)
Mammalia ELFN2 34
  • 93.54 (n)
cow
(Bos Taurus)
Mammalia ELFN2 34 35
  • 91.34 (n)
mouse
(Mus musculus)
Mammalia Elfn2 34 16 35
  • 89.43 (n)
rat
(Rattus norvegicus)
Mammalia Elfn2-ps1 34
  • 89.05 (n)
oppossum
(Monodelphis domestica)
Mammalia ELFN2 35
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ELFN2 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves ELFN2 34 35
  • 77.56 (n)
lizard
(Anolis carolinensis)
Reptilia ELFN2 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia elfn2 34
  • 67.05 (n)
zebrafish
(Danio rerio)
Actinopterygii elfn2a 34
  • 62.77 (n)
elfn2 35
  • 58 (a)
OneToMany
ELFN2 (2 of 2) 35
  • 55 (a)
OneToMany
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

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
rs1015942 -- 37,353,691(+) aatgc(A/G)aatta intron-variant, nc-transcript-variant
rs1018809 -- 37,351,788(+) CTGCC(A/G)CGGGG intron-variant, downstream-variant-500B
rs1024335 -- 37,353,290(+) ATGGG(G/T)TCTAG intron-variant, nc-transcript-variant
rs1024336 -- 37,353,487(+) GGAGC(A/G)TTGTA intron-variant, nc-transcript-variant
rs10628940 -- 37,354,545(+) ACACA(-/AC/CA)ACCCC intron-variant, nc-transcript-variant

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
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 64
  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 64
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  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 Res. 2001) 3 4 64
  5. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 3 4 64

Products for ELFN2 Gene

Sources for ELFN2 Gene

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