Aliases for ELAPOR2 Gene

Aliases for ELAPOR2 Gene

  • Endosome-Lysosome Associated Apoptosis And Autophagy Regulator Family Member 2 2 3
  • KIAA1324 Like 2 3 5
  • KIAA1324L 3 4 5
  • EIG121L 2 3 4
  • Endosome/Lysosome-Associated Apoptosis And Autophagy Regulator Family Member 2 3 4
  • Estrogen-Induced Gene 121-Like Protein 3 4
  • EIG121-Like 2 3
  • UPF0577 Protein KIAA1324-Like 3
  • FLJ31340 2
  • HEIG121L 4

External Ids for ELAPOR2 Gene

Previous HGNC Symbols for ELAPOR2 Gene

  • KIAA1324L

Summaries for ELAPOR2 Gene

GeneCards Summary for ELAPOR2 Gene

ELAPOR2 (Endosome-Lysosome Associated Apoptosis And Autophagy Regulator Family Member 2) is a Protein Coding gene. Diseases associated with ELAPOR2 include Autosomal Dominant Non-Syndromic Intellectual Disability 1 and Autosomal Dominant Non-Syndromic Intellectual Disability. An important paralog of this gene is ELAPOR1.

UniProtKB/Swiss-Prot Summary for ELAPOR2 Gene

  • Functions as a regulator of the BMP signaling pathway and may be involved in epidermal differentiation.

Additional gene information for ELAPOR2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ELAPOR2 Gene

Genomics for ELAPOR2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ELAPOR2 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
GH07J087059 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 605.2 +0.3 314 2.4 CTCF IKZF1 ZNF692 POLR2A FOXA1 MTA2 ZSCAN4 PATZ1 REST RAD21 ELAPOR2 DMTF1 LOC112268008 GRM3
GH07J086651 Promoter/Enhancer 0.9 FANTOM5 Ensembl dbSUPER 15.4 +413.7 413714 0.8 EZH2 HSALNG0059351 GRM3 ELAPOR2 ENSG00000231255
GH07J087128 Enhancer 1 Ensembl ENCODE 11.1 -69.7 -69687 3.6 SP1 PRDM10 PRDM1 PKNOX1 ZNF24 POLR2A ZNF740 YY1 ZNF341 EED ELAPOR2 ENSG00000224046 DMTF1 TP53TG1 lnc-DMTF1-2 piR-46827
GH07J086992 Enhancer 0.7 Ensembl ENCODE 15.2 +67.6 67613 1 PKNOX1 GABPA ATF4 CEBPG ETV1 JUN MEIS2 ZBTB40 ATF7 ELAPOR2 HSALNG0059362 lnc-TMEM243-3 GRM3
GH07J087144 Enhancer 0.9 Ensembl ENCODE 11.8 -84.6 -84596 1 PKNOX1 TCF12 YY1 EED ARID3A GTF2E2 DPF2 RUNX3 HDGF FOSL1 ELAPOR2 TP53TG1 DMTF1 piR-46827 lnc-DMTF1-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ELAPOR2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ELAPOR2

Genomic Locations for ELAPOR2 Gene

Genomic Locations for ELAPOR2 Gene
chr7:86,876,906-87,059,714
(GRCh38/hg38)
Size:
182,809 bases
Orientation:
Minus strand
chr7:86,506,222-86,689,015
(GRCh37/hg19)
Size:
182,794 bases
Orientation:
Minus strand

Genomic View for ELAPOR2 Gene

Genes around ELAPOR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELAPOR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELAPOR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELAPOR2 Gene

Proteins for ELAPOR2 Gene

  • Protein details for ELAPOR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A8MWY0-ELAP2_HUMAN
    Recommended name:
    Endosome/lysosome-associated apoptosis and autophagy regulator family member 2
    Protein Accession:
    A8MWY0
    Secondary Accessions:
    • A4D1C9
    • B4DJV3
    • Q17RI6
    • Q96DP2

    Protein attributes for ELAPOR2 Gene

    Size:
    1029 amino acids
    Molecular mass:
    113842 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI17310.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB71041.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for ELAPOR2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ELAPOR2 Gene

Post-translational modifications for ELAPOR2 Gene

  • Glycosylation at Asn405, Asn169, and Asn691
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ELAPOR2 Gene

Domains & Families for ELAPOR2 Gene

Gene Families for ELAPOR2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ELAPOR2 Gene

Suggested Antigen Peptide Sequences for ELAPOR2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ56377 (B4DJV3_HUMAN)
  • Estrogen-induced gene 121-like protein (K132L_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A8MWY0

UniProtKB/Swiss-Prot:

ELAP2_HUMAN :
  • Belongs to the ELAPOR family.
Family:
  • Belongs to the ELAPOR family.
genes like me logo Genes that share domains with ELAPOR2: view

Function for ELAPOR2 Gene

Molecular function for ELAPOR2 Gene

UniProtKB/Swiss-Prot Function:
Functions as a regulator of the BMP signaling pathway and may be involved in epidermal differentiation.

Phenotypes From GWAS Catalog for ELAPOR2 Gene

Gene Ontology (GO) - Molecular Function for ELAPOR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070700 BMP receptor binding ISS --
genes like me logo Genes that share ontologies with ELAPOR2: view
genes like me logo Genes that share phenotypes with ELAPOR2: view

Animal Models for ELAPOR2 Gene

MGI Knock Outs for ELAPOR2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELAPOR2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ELAPOR2 Gene

Localization for ELAPOR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELAPOR2 Gene

Cell membrane. Single-pass type I 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 ELAPOR2 gene
Compartment Confidence
plasma membrane 4
nucleus 0
endoplasmic reticulum 0
cytosol 0
lysosome 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ELAPOR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ELAPOR2: view

Pathways & Interactions for ELAPOR2 Gene

PathCards logo

SuperPathways for ELAPOR2 Gene

No Data Available

Interacting Proteins for ELAPOR2 Gene

Gene Ontology (GO) - Biological Process for ELAPOR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030513 positive regulation of BMP signaling pathway ISS --
GO:0045684 positive regulation of epidermis development ISS --
GO:0051961 negative regulation of nervous system development ISS --
genes like me logo Genes that share ontologies with ELAPOR2: view

No data available for Pathways by source and SIGNOR curated interactions for ELAPOR2 Gene

Drugs & Compounds for ELAPOR2 Gene

No Compound Related Data Available

Transcripts for ELAPOR2 Gene

mRNA/cDNA for ELAPOR2 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELAPOR2

Alternative Splicing Database (ASD) splice patterns (SP) for ELAPOR2 Gene

No ASD Table

Relevant External Links for ELAPOR2 Gene

GeneLoc Exon Structure for
ELAPOR2

Expression for ELAPOR2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ELAPOR2

SOURCE GeneReport for Unigene cluster for ELAPOR2 Gene:

Hs.208093

Evidence on tissue expression from TISSUES for ELAPOR2 Gene

  • Nervous system(4.4)
  • Kidney(4.1)
No Expression Related Data Available

Primer Products

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 and Phenotype-based relationships between genes and organs from Gene ORGANizer for ELAPOR2 Gene

Orthologs for ELAPOR2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ELAPOR2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KIAA1324L 30 31
  • 99.71 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KIAA1324L 30 31
  • 94.03 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KIAA1324L 30 31
  • 93.63 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KIAA1324L 31
  • 90 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia 9330182L06Rik 30 31
  • 89.11 (n)
OneToOne
Elapor2 17
Rat
(Rattus norvegicus)
Mammalia RGD1563349 30
  • 88.61 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1324L 31
  • 85 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KIAA1324L 30 31
  • 77.73 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KIAA1324L 31
  • 78 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kiaa1324l 30
  • 72.14 (n)
Str.15116 30
Zebrafish
(Danio rerio)
Actinopterygii si:dkey-153k10.9 30 31
  • 66.29 (n)
OneToMany
si:ch211-233h19.2 31
  • 62 (a)
OneToMany
si:dkey-5i3.1 31
  • 57 (a)
OneToMany
-- 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9737 30
Worm
(Caenorhabditis elegans)
Secernentea CELE_Y73F8A.5 30
  • 44.79 (n)
Y73F8A.5 31
  • 25 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 40 (a)
OneToMany
Species where no ortholog for ELAPOR2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)

Evolution for ELAPOR2 Gene

ENSEMBL:
Gene Tree for ELAPOR2 (if available)
TreeFam:
Gene Tree for ELAPOR2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ELAPOR2: view image

Paralogs for ELAPOR2 Gene

Paralogs for ELAPOR2 Gene

genes like me logo Genes that share paralogs with ELAPOR2: view

Variants for ELAPOR2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ELAPOR2 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs1029366 - p.Asn539Tyr
rs34412146 - p.Leu729Val
rs34577440 - p.Ser767Arg

Additional dbSNP identifiers (rs#s) for ELAPOR2 Gene

Structural Variations from Database of Genomic Variants (DGV) for ELAPOR2 Gene

Variant ID Type Subtype PubMed ID
esv1677921 CNV deletion 17803354
esv2674083 CNV deletion 23128226
esv2734771 CNV deletion 23290073
esv3306033 CNV mobile element insertion 20981092
esv3349167 CNV insertion 20981092
esv3542038 CNV deletion 23714750
esv3614027 CNV loss 21293372
esv3614029 CNV gain 21293372
esv998639 CNV deletion 20482838
nsv1028503 CNV gain 25217958
nsv1122166 CNV deletion 24896259
nsv1144191 CNV deletion 24896259
nsv1145931 CNV duplication 26484159
nsv483124 CNV gain 15286789
nsv525634 CNV gain 19592680
nsv527889 CNV gain 19592680
nsv5825 CNV insertion 18451855
nsv8171 CNV gain 18304495
nsv824202 CNV loss 20364138

Variation tolerance for ELAPOR2 Gene

Residual Variation Intolerance Score: 31.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.43; 63.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ELAPOR2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELAPOR2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELAPOR2 Gene

Disorders for ELAPOR2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ELAPOR2 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with ELAPOR2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ELAPOR2 Gene

Publications for ELAPOR2 Gene

  1. A transmembrane protein EIG121L is required for epidermal differentiation during early embryonic development. (PMID: 21177533) Araki T … Nishida E (The Journal of biological chemistry 2011) 2 3
  2. Expression of estrogen induced gene 121-like (EIG121L) during early Xenopus development. (PMID: 17475571) Araki T … Nishida E (Gene expression patterns : GEP 2007) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4
  5. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3

Products for ELAPOR2 Gene

Sources for ELAPOR2 Gene