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Aliases for ILDR2 Gene

Aliases for ILDR2 Gene

  • Immunoglobulin Like Domain Containing Receptor 2 2 3 5
  • C1orf32 3 4
  • Immunoglobulin-Like Domain Containing Receptor 2 2
  • Immunoglobulin-Like Domain-Containing Receptor 2 3
  • Chromosome 1 Open Reading Frame 32 2
  • LISCH-Like 2
  • DJ782G3.1 3

External Ids for ILDR2 Gene

Previous HGNC Symbols for ILDR2 Gene

  • C1orf32

Previous GeneCards Identifiers for ILDR2 Gene

  • GC01M165155
  • GC01M138135

Summaries for ILDR2 Gene

GeneCards Summary for ILDR2 Gene

ILDR2 (Immunoglobulin Like Domain Containing Receptor 2) is a Protein Coding gene. Diseases associated with ILDR2 include Deafness, Autosomal Recessive 42 and Deafness, Autosomal Recessive 49. An important paralog of this gene is LSR.

UniProtKB/Swiss-Prot for ILDR2 Gene

  • May be involved in lipid homeostasis and ER stress pathways.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ILDR2 Gene

Genomics for ILDR2 Gene

Regulatory Elements for ILDR2 Gene

Enhancers for ILDR2 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
GH01G167066 1.4 Ensembl ENCODE dbSUPER 5.6 -77.8 -77750 0.7 CBX3 RB1 ZFP64 ZBTB40 ZNF2 ZNF48 RAD21 ZNF143 KDM4B MCM3 GPA33 MPZL1 LOC284685 DUSP27 POU2F1 ILDR2 MAEL LOC105371600 LOC105371598
GH01G166874 1.2 ENCODE 6.1 +113.3 113295 2.4 MLX CREB3L1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 MEF2D MAEL LOC284685 TADA1 DUTP6 ILDR2
GH01G167081 1.3 Ensembl ENCODE dbSUPER 5.5 -94.3 -94266 4.3 ELF3 CTCF ZMYM3 RAD21 ZNF644 TEAD3 ZNF664 ZFHX2 FOS RELB ILDR2 LOC105371598 LOC105371600
GH01G166904 1.2 ENCODE 5.4 +83.1 83108 3.1 CREB3L1 MLX DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 MEF2D MAEL TADA1 LOC105371600 DUSP27 GPA33 ILDR2 GC01M166909 LOC101928459
GH01G166944 0.6 Ensembl ENCODE 5.3 +44.4 44449 1.0 BHLHE40 ILDR2 GC01M166909 MAEL
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ILDR2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ILDR2 Gene

Chromosome:
1
Start:
166,895,711 bp from pter
End:
166,989,093 bp from pter
Size:
93,383 bases
Orientation:
Minus strand

Genomic View for ILDR2 Gene

Genes around ILDR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ILDR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ILDR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ILDR2 Gene

Proteins for ILDR2 Gene

  • Protein details for ILDR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q71H61-ILDR2_HUMAN
    Recommended name:
    Immunoglobulin-like domain-containing receptor 2
    Protein Accession:
    Q71H61

    Protein attributes for ILDR2 Gene

    Size:
    639 amino acids
    Molecular mass:
    71200 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ILDR2 Gene

Post-translational modifications for ILDR2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ILDR2 Gene

Domains & Families for ILDR2 Gene

Protein Domains for ILDR2 Gene

Suggested Antigen Peptide Sequences for ILDR2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q71H61

UniProtKB/Swiss-Prot:

ILDR2_HUMAN :
  • Belongs to the immunoglobulin superfamily. LISCH7 family.
Family:
  • Belongs to the immunoglobulin superfamily. LISCH7 family.
genes like me logo Genes that share domains with ILDR2: view

No data available for Gene Families for ILDR2 Gene

Function for ILDR2 Gene

Molecular function for ILDR2 Gene

UniProtKB/Swiss-Prot Function:
May be involved in lipid homeostasis and ER stress pathways.
genes like me logo Genes that share phenotypes with ILDR2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ILDR2

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ILDR2 Gene

Localization for ILDR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ILDR2 Gene

Endoplasmic reticulum 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 ILDR2 gene
Compartment Confidence
endoplasmic reticulum 3
plasma membrane 2
extracellular 2
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ILDR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ILDR2: view

Pathways & Interactions for ILDR2 Gene

SuperPathways for ILDR2 Gene

No Data Available

Interacting Proteins for ILDR2 Gene

Gene Ontology (GO) - Biological Process for ILDR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009749 response to glucose IEA --
GO:0030073 insulin secretion IEA --
GO:0030154 cell differentiation IEA --
GO:0031016 pancreas development IEA --
GO:0048873 homeostasis of number of cells within a tissue IEA --
genes like me logo Genes that share ontologies with ILDR2: view

No data available for Pathways by source and SIGNOR curated interactions for ILDR2 Gene

Drugs & Compounds for ILDR2 Gene

No Compound Related Data Available

Transcripts for ILDR2 Gene

Unigene Clusters for ILDR2 Gene

Immunoglobulin-like domain containing receptor 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ILDR2 Gene

No ASD Table

Relevant External Links for ILDR2 Gene

GeneLoc Exon Structure for
ILDR2
ECgene alternative splicing isoforms for
ILDR2

Expression for ILDR2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ILDR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ILDR2 Gene

This gene is overexpressed in Testis (x6.6) and Brain - Hypothalamus (x4.2).

Protein differential expression in normal tissues from HIPED for ILDR2 Gene

This gene is overexpressed in Frontal cortex (20.8), Retina (18.6), Peripheral blood mononuclear cells (18.5), and Testis (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ILDR2 Gene



Protein tissue co-expression partners for ILDR2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ILDR2 Gene:

ILDR2

SOURCE GeneReport for Unigene cluster for ILDR2 Gene:

Hs.444835
genes like me logo Genes that share expression patterns with ILDR2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ILDR2 Gene

Orthologs for ILDR2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ILDR2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ILDR2 34 35
  • 99.84 (n)
dog
(Canis familiaris)
Mammalia ILDR2 34 35
  • 90.66 (n)
cow
(Bos Taurus)
Mammalia ILDR2 34 35
  • 90.3 (n)
mouse
(Mus musculus)
Mammalia Ildr2 34 16 35
  • 90.01 (n)
rat
(Rattus norvegicus)
Mammalia Ildr2 34
  • 89.34 (n)
oppossum
(Monodelphis domestica)
Mammalia ILDR2 35
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ILDR2 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves ILDR2 34 35
  • 73.16 (n)
lizard
(Anolis carolinensis)
Reptilia ILDR2 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ildr2 34
  • 63 (n)
zebrafish
(Danio rerio)
Actinopterygii ildr2 34 35
  • 54.97 (n)
ILDR2 (2 of 2) 35
  • 46 (a)
OneToMany
Species where no ortholog for ILDR2 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 ILDR2 Gene

ENSEMBL:
Gene Tree for ILDR2 (if available)
TreeFam:
Gene Tree for ILDR2 (if available)

Paralogs for ILDR2 Gene

Paralogs for ILDR2 Gene

(1) SIMAP similar genes for ILDR2 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with ILDR2: view

Variants for ILDR2 Gene

Sequence variations from dbSNP and Humsavar for ILDR2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000021756 -- 166,913,648(+) CTCTT(A/G)GTTCT utr-variant-3-prime
rs1000036681 -- 166,970,643(+) CTAAG(C/T)ACTAG intron-variant
rs1000067127 -- 166,943,309(+) AACAC(A/C)GTGAA intron-variant
rs1000115204 -- 166,950,847(+) GGAGC(A/G)TGACA intron-variant
rs1000263075 -- 166,920,030(+) TTTGG(G/T)GCTGT intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for ILDR2 Gene

Variant ID Type Subtype PubMed ID
esv3587840 CNV loss 21293372
nsv1078878 OTHER inversion 25765185

Variation tolerance for ILDR2 Gene

Residual Variation Intolerance Score: 49.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.45; 71.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ILDR2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ILDR2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ILDR2 Gene

Disorders for ILDR2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ILDR2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
deafness, autosomal recessive 42
  • autosomal recessive nonsyndromic deafness 42
deafness, autosomal recessive 49
  • autosomal recessive nonsyndromic deafness 49
- elite association - COSMIC cancer census association via MalaCards
Search ILDR2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ILDR2

Genetic Association Database (GAD)
ILDR2
Human Genome Epidemiology (HuGE) Navigator
ILDR2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ILDR2
genes like me logo Genes that share disorders with ILDR2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ILDR2 Gene

Publications for ILDR2 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  2. Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation. (PMID: 19064610) Cheung C.L. … Kung A.W. (Hum. Mol. Genet. 2009) 3 46 64
  3. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PMID: 19536175) Ehret G.B. … Chakravarti A. (Eur. J. Hum. Genet. 2009) 3 46 64
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  5. Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium. (PMID: 25367360) Li Q. … Guggenheim J.A. (Hum. Genet. 2014) 3 64

Products for ILDR2 Gene

Sources for ILDR2 Gene

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