Aliases for ILDR2 Gene

Aliases for ILDR2 Gene

  • Immunoglobulin Like Domain Containing Receptor 2 2 3 5
  • Immunoglobulin-Like Domain-Containing Receptor 2 3 4
  • C1orf32 3 4
  • Immunoglobulin-Like Domain Containing Receptor 2 2
  • 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 Summary for ILDR2 Gene

Additional gene information for ILDR2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ILDR2 Gene

Genomics for ILDR2 Gene

GeneHancer (GH) Regulatory Elements for ILDR2 Gene

Promoters and enhancers for ILDR2 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
GH01J166975 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 500.4 +14.6 14592 4.2 HNRNPK USF1 CTCF ZIC2 ZBTB10 ZBTB26 REST MYC CTBP1 ZNF341 MAEL ILDR2 HSALNG0008200 lnc-ILDR2-3
GH01J166989 Promoter 0.7 EPDnew 500.7 -0.2 -169 0.1 REST NRF1 CEBPB ZBTB33 USF2 L3MBTL2 ATF3 NFYB RBFOX2 CEBPG ILDR2 MAEL RF00001-018 RNA5SP65 lnc-ILDR2-3
GH01J166874 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 6.1 +113.3 113292 2.8 EP300 FOXK2 ZBTB40 ZNF217 CTCF SIN3A TCF12 NRF1 USF1 POLR2G TADA1 MAEL POU2F1 ENSG00000215835 DUTP6 ILDR2 lnc-POGK-1
GH01J167066 Promoter/Enhancer 1.3 ENCODE CraniofacialAtlas dbSUPER 5.6 -77.6 -77616 0.3 CTCF ZBTB26 REST MYC RAD21 TRIM22 SMC3 MXI1 KDM4B MYNN DUSP27 GPA33 POU2F1 ILDR2 RF00017-383 LOC105371600 LOC105371598
GH01J166901 Enhancer 0.9 Ensembl ENCODE 6.2 +86.6 86647 3.1 REST CTBP1 NCOR1 FOS MAX SPI1 EHMT2 TAL1 CTCF TCF12 lnc-TADA1-2 TADA1 ENSG00000227907 DUSP27 GPA33 MAEL ILDR2 lnc-ILDR2-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ILDR2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ILDR2

Top Transcription factor binding sites by QIAGEN in the ILDR2 gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • E2F
  • E2F-1
  • FAC1
  • Pbx1a
  • RSRFC4

Genomic Locations for ILDR2 Gene

Genomic Locations for ILDR2 Gene
chr1:166,895,711-166,989,093
(GRCh38/hg38)
Size:
93,383 bases
Orientation:
Minus strand
chr1:166,882,441-166,944,719
(GRCh37/hg19)
Size:
62,279 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

Gene Families for ILDR2 Gene

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

Protein Domains for ILDR2 Gene

Blocks:
  • Immunoglobulin V-set
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ILDR2 Gene

GenScript: Design optimal peptide antigens:
  • Immunoglobulin-like domain-containing receptor 2 (ILDR2_HUMAN)

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

Function for ILDR2 Gene

Molecular function for ILDR2 Gene

UniProtKB/Swiss-Prot Function:
May be involved in lipid homeostasis and ER stress pathways.

Phenotypes From GWAS Catalog for ILDR2 Gene

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

Animal Model Products

  • Taconic Biosciences Mouse Models for ILDR2

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
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
peroxisome 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

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

PathCards logo

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

mRNA/cDNA for ILDR2 Gene

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

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

Expression for ILDR2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ILDR2

SOURCE GeneReport for Unigene cluster for ILDR2 Gene:

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

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 31 30
  • 99.84 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ILDR2 31 30
  • 90.66 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ILDR2 31 30
  • 90.3 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ildr2 17 31 30
  • 90.01 (n)
rat
(Rattus norvegicus)
Mammalia Ildr2 30
  • 89.34 (n)
oppossum
(Monodelphis domestica)
Mammalia ILDR2 31
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ILDR2 31
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves ILDR2 31 30
  • 73.16 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ILDR2 31
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ildr2 30
  • 63 (n)
zebrafish
(Danio rerio)
Actinopterygii ildr2 31 30
  • 54.97 (n)
OneToMany
ILDR2 (2 of 2) 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ILDR2: view image

Paralogs for ILDR2 Gene

Paralogs for ILDR2 Gene

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

  • ILDR2_HUMAN
  • E9PLS0_HUMAN
  • E9PNU3_HUMAN
  • E9PPL0_HUMAN
  • E9PQC8_HUMAN
  • E9PR23_HUMAN
  • E9PRA4_HUMAN
genes like me logo Genes that share paralogs with ILDR2: view

Variants for ILDR2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ILDR2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
724722 Benign: not provided 166,957,929(-) G/A SYNONYMOUS_VARIANT
rs33958744 - p.Val202Ile

Additional dbSNP identifiers (rs#s) for ILDR2 Gene

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)

Additional Variant Information for ILDR2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ILDR2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
deafness, autosomal recessive 42
  • dfnb42
deafness, autosomal recessive 49
  • dfnb49
hermansky-pudlak syndrome 7
  • albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
deafness, autosomal recessive 29
  • dfnb29
nonsyndromic deafness
  • nonsyndromic hearing loss
- elite association - COSMIC cancer census association via MalaCards
Search ILDR2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ILDR2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  2. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PMID: 19536175) Ehret GB … Chakravarti A (European journal of human genetics : EJHG 2009) 3 41 54
  3. Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation. (PMID: 19064610) Cheung CL … Kung AW (Human molecular genetics 2009) 3 41 54
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54
  5. ZNF70, a novel ILDR2-interacting protein, contributes to the regulation of HES1 gene expression. (PMID: 27353377) Watanabe K … Iwamoto S (Biochemical and biophysical research communications 2016) 3 54

Products for ILDR2 Gene

Sources for ILDR2 Gene