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
  • Protein Phosphatase 1 Regulatory Subunit 29 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
  • GC22M042709
  • GC22M042822
  • GC22M039791
  • GC22M040467
  • GC22M040893
  • GC22M041227
  • GC22M041624
  • GC22M042010
  • GC22M042390

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. Gene Ontology (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 Summary 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 , Rfam classification and piRNA Summary for ELFN2 Gene

Genomics for ELFN2 Gene

GeneHancer (GH) Regulatory Elements for ELFN2 Gene

Promoters and enhancers for ELFN2 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
GH22J037426 Promoter/Enhancer 1.2 Ensembl ENCODE dbSUPER 516.7 +0.5 460 2 PHF8 ZBTB10 ZBTB26 EZH2 HDAC2 KDM1A POLR2A TCF12 TARDBP ZFHX2 ELFN2 ENSG00000243902 lnc-CYTH4-6
GH22J037400 Enhancer 1.1 Ensembl ENCODE dbSUPER 45.5 +25.5 25533 4.1 ZNF300 ZIC2 RBM25 OSR2 ZNF491 WT1 NFIC ZNF184 TCF12 BCOR ELFN2 ANKRD54 ENSG00000243902 MFNG CYTH4 CSNK1E ENSG00000100101 IL2RB TMPRSS6 ENSG00000231467
GH22J037429 Enhancer 1.2 Ensembl ENCODE dbSUPER 20.5 -4.4 -4397 6.1 EP300 CTCF TCF12 JUND FOS ZNF639 ZIC2 ZNF263 GABPA TRIM28 HSALNG0135308 ELFN2 ANKRD54 MFNG PLA2G6 IL2RB TEX33 CARD10 lnc-MFNG-1
GH22J037416 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 21.8 +10.5 10529 2.3 RFX1 ZNF274 MXI1 EZH2 ZBTB17 MAX ZFHX2 MNT ZNF398 MAZ ELFN2 PDXP TRIOBP FJ601666-050 lnc-CYTH4-6 ENSG00000243902
GH22J037420 Promoter/Enhancer 1 Ensembl ENCODE dbSUPER 18.4 +7.4 7378 1.4 EZH2 PHF8 KLF8 JUND BHLHE40 ZFP36 TBP EGR2 CTCF lnc-CYTH4-6 ELFN2 FJ601666-050 ENSG00000243902
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ELFN2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ELFN2 gene promoter:
  • AML1a
  • AREB6
  • HSF2
  • MyoD
  • p53
  • Pax-5
  • PPAR-alpha
  • SREBP-1a
  • SREBP-1b

Genomic Locations for ELFN2 Gene

Genomic Locations for ELFN2 Gene
chr22:37,340,644-37,427,479
(GRCh38/hg38)
Size:
86,836 bases
Orientation:
Minus strand
chr22:37,764,000-37,823,505
(GRCh37/hg19)
Size:
59,506 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=Extended N-terminus.; Evidence={ECO:0000305};

neXtProt entry for ELFN2 Gene

Post-translational modifications for ELFN2 Gene

  • Glycosylation at Asn54, Asn80, Asn85, Asn117, Asn205, and Asn247
  • 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

Protein Domains for ELFN2 Gene

Blocks:
  • Gram-positive coccus surface protein anchor signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ELFN2 Gene

GenScript: Design optimal peptide antigens:
  • Leucine-rich repeat-containing protein 62 (LRFN6_HUMAN)
genes like me logo Genes that share domains with ELFN2: view

No data available for Graphical View of Domain Structure and 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: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:
  • Elfn2 Elfn2<tm1.1(KOMP)Vlcg>

Animal Model Products

  • Taconic Biosciences Mouse Models 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

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 4
plasma membrane 2
nucleus 2
endoplasmic reticulum 1
golgi apparatus 0

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 IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031012 extracellular matrix IBA 21873635
genes like me logo Genes that share ontologies with ELFN2: view

Pathways & Interactions for ELFN2 Gene

PathCards logo

SuperPathways for ELFN2 Gene

No Data Available

Interacting Proteins for ELFN2 Gene

;

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
GO:0032515 negative regulation of phosphoprotein phosphatase activity IEA --
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

mRNA/cDNA for ELFN2 Gene

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

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
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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ELFN2

SOURCE GeneReport for Unigene cluster for ELFN2 Gene:

Hs.660812

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
chimpanzee
(Pan troglodytes)
Mammalia ELFN2 31 30
  • 99.41 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ELFN2 30
  • 93.54 (n)
cow
(Bos Taurus)
Mammalia ELFN2 31 30
  • 91.34 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Elfn2 17 31 30
  • 89.43 (n)
rat
(Rattus norvegicus)
Mammalia Elfn2-ps1 30
  • 89.05 (n)
oppossum
(Monodelphis domestica)
Mammalia ELFN2 31
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ELFN2 31
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves ELFN2 31 30
  • 77.56 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ELFN2 31
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia elfn2 30
  • 67.05 (n)
zebrafish
(Danio rerio)
Actinopterygii elfn2a 30
  • 62.77 (n)
elfn2 31
  • 58 (a)
OneToMany
ELFN2 (2 of 2) 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ELFN2: view image

Paralogs for ELFN2 Gene

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

  • PPR29_HUMAN
genes like me logo Genes that share paralogs with ELFN2: view

Variants for ELFN2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ELFN2 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
717069 Benign: not provided 37,374,750(-) G/T MISSENSE_VARIANT
786382 Benign: not provided 37,375,308(-) T/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ELFN2 Gene

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

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

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)

Additional Variant Information for ELFN2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELFN2

SNP Genotyping and Copy Number Assay Products

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

Disorders for ELFN2 Gene

Additional Disease Information for 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 (Chemistry & biology 2009) 3 4 54
  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 54
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 54
  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 54
  5. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 3 4 54

Products for ELFN2 Gene

Sources for ELFN2 Gene