ILDR1 Gene
protein-coding GIFtS: 45
GCID: GC03M121706
|
|
immunoglobulin-like domain containing receptor 1(Previous names: deafness, autosomal recessive 42 )
(Previous symbol: DFNB42)
| |
Aliases
for ILDR1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Immunoglobulin-Like Domain Containing Receptor 11 2 | | ILDR1alpha'2 | | DFNB421 2 | | ILDR1beta2 | | MGC508311 | | Immunoglobulin-Like Domain-Containing Receptor 12 | | Deafness, Autosomal Recessive 421 | | Immunoglobulin-Like Domain-Containing Receptor 1 Alpha2 | | ILDR1alpha2 | | Immunoglobulin-Like Domain-Containing Receptor 1 Beta2 |
Export aliases for ILDR1 gene to outside databasesPrevious GC identifers: GC03M123188 GC03M119079 |
Summaries
for ILDR1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for ILDR1:
This gene encodes a protein that contains an immunoglobulin-like domain. The encoded protein may function as amultimeric receptor at the cell surface. The expression of this gene may be a diagnostic marker for cancerprogression. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for thisgene. (provided by RefSeq, Dec 2010)
UniProtKB/Swiss-Prot: ILDR1_HUMAN, Q86SU0Function: Putative membrane receptor
|
Genomic Views
for ILDR1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000003.11 NC_018914.1 NT_005612.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ILDR1 gene promoter:
ATF-2 FOXL1 GATA-1 CREB deltaCREB FOXJ2 (long isoform) STAT3 FOXJ2 c-Jun
Other transcription factors
Search SABiosciences Chromatin IP Primers for ILDR1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ILDR1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3q13.33 Ensembl cytogenetic band: 3q13.33 HGNC cytogenetic band: 3q21.1ILDR1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03M121706: view genomic region
(about GC identifiers)
Start:
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121,706,170 bp from pter |
End:
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121,741,051 bp from pter |
Size:
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34,882 bases |
Orientation:
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minus strand |
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Proteins
for ILDR1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: ILDR1_HUMAN, Q86SU0 (See
protein sequence)Recommended Name: Immunoglobulin-like domain-containing receptor 1 precursor Size: 546 amino acids; 62815 Da
Subunit: Homooligomer
Subcellular location: Cell membrane; Single-pass type I membrane protein
Subcellular location: Isoform 5: Cytoplasm, cytosol
Secondary accessions: Q6ZP61 Q7Z578Alternative splicing: 6 isoforms: Q86SU0-1 Q86SU0-2 Q86SU0-3 Q86SU0-4 Q86SU0-5 Q86SU0-6 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for ILDR1: NX_Q86SU0
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q86SU0
ILDR1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001186728.1 NP_001186729.1 NP_787120.1
ENSEMBL proteins: ENSP00000273691 ENSP00000345667 ENSP00000377251 ENSP00000419414
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
ILDR1 for ontologies About GeneDecksing
ILDR1 Antibody Products:
Assay Products for ILDR1: |
Protein
Domains /
Families
for ILDR1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ILDR1 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q86SU0ProtoNet protein and cluster: Q86SU0 UniProtKB/Swiss-Prot: ILDR1_HUMAN, Q86SU0Similarity: Belongs to the immunoglobulin superfamily. LISCH7 familySimilarity: Contains 1 Ig-like V-type (immunoglobulin-like) domain |
Function
for ILDR1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: ILDR1_HUMAN, Q86SU0Function: Putative membrane receptor
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ILDR1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ILDR1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ILDR1 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004872 | receptor activity |
-- | -- |
ILDR1 for ontologies About GeneDecksing
|
Pathways & Interactions
for ILDR1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ILDR1
|
Drugs & Compounds
for ILDR1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for ILDR1
Search CenterWatch for drugs/clinical trials and news about ILDR1
|
Transcripts
for ILDR1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ILDR1 gene (3 alternative transcripts): NM_001199799.1 NM_001199800.1 NM_175924.3 Unigene Cluster for ILDR1: Immunoglobulin-like domain containing receptor 1 Hs.98484 [show with all ESTs]Unigene Representative Sequence: NM_0011997995 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000273691(uc003eeq.3 uc003ees.3 uc003eer.3 uc010hrg.3)
ENST00000344209 ENST00000393631 ENST00000462014 ENST00000460554
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ILDR1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ILDR1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 3): ILDR1 (NM_175924) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ILDR1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ILDR1 |
Additional cDNA sequence: AK129974.1 AY134857.1 AY672837.1 AY672838.1 AY672839.1 BC044240.1 3 DOTS entries: DT.404444 DT.101978402 DT.99971559 24/30 AceView cDNA sequences (see all 30): AA425730 CK904929 AI821661 CK904928 BM923606 BF222489 AY134857 NM_175924 AI734047 BQ067344 AY672838 AK129974 BC044240 AI766035 BM055370 AY672839 AW612174 BM055082 BG291785 AY672837 BX397187 BF222221 CB959859 CB960662
GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for ILDR1 About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c |
|---|
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| SP1: | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | - | | | | | | | | | | | | - | | | | | | | | | | |
| SP3: | | | | | | | - | | | | | | | | | | - | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | |
| SP5: | | | | | | | - | | | | | | - | | - | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for ILDR1
|
Expression
for ILDR1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ILDR1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTGCTCCAAA
About this image
See ILDR1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ILDR1
SOURCE GeneReport for Unigene cluster: Hs.98484
UniProtKB/Swiss-Prot: ILDR1_HUMAN, Q86SU0Tissue specificity: Mainly expressed in prostate and to a lower extent in testis, pancreas, kidney, heart and liver
SABiosciences Custom PCR Arrays for ILDR1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ILDR1
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ILDR1 |
Orthologs
for ILDR1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for ILDR1 gene from 3/10 species (see all 10) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
ILDR11 |
immunoglobulin-like domain containing receptor 1 |
63.61(n)
59.54(a) |
|
418358 XM_416578.2 XP_416578.2 |
lizard
(Anolis carolinensis) |
Reptilia |
ILDR16 |
-- |
55(a) |
1 ↔ 1 |
3(176283291-176290492) |
zebrafish
(Danio rerio) |
Actinopterygii |
zgc642272 |
hypothetical protein MGC64227 |
77.13(n) |
|
393364 BC053314.1 |
ENSEMBL Gene Tree for ILDR1 (if available)
TreeFam Gene Tree for ILDR1 (if available) |
Paralogs
for ILDR1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ILDR1 gene
- ILDR22 LSR2
ILDR1 for paralogs About GeneDecksing
|
Genomic Variants
for ILDR1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 3 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ILDR1 (121706170 - 121741051 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for ILDR1
2 CNVs: 7357 6207
Human Gene Mutation Database (HGMD): ILDR1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ILDR1 |
|
Disorders
/ Diseases
for ILDR1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ILDR1 for disorders About GeneDecksing
OMIM gene information: 609739
OMIM disorders: --
UniProtKB/Swiss-Prot: ILDR1_HUMAN, Q86SU0
Defects in ILDR1 are the cause of deafness autosomal recessive type 42 (DFNB42) [MIM:609646]; also callednon-syndromic sensorineural deafness autosomal recessive type 42. DFNB42 is a prelingual, non-progressive form ofnon-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of theinner ear, the nerve pathways to the brain, or the area of the brain that receives sound information
1  disease for ILDR1: About MalaCardsprostatitis
1 disease from the University of Copenhagen DISEASES database for ILDR1:Nonsyndromic deafness Human Genome Epidemiology (HuGE) Navigator: ILDR1 (1 document)
Export disorders for ILDR1 gene to outside databases
|
Publications
for ILDR1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for ILDR1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with ILDR1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Loss-of-function mutations of ILDR1 cause autosomal-r ecessive hearing impairment DFNB42. (PubMed id 21255762)1, 2, 3 Borck G....Kubisch C. (2011)
- A novel autosomal recessive nonsyndromic hearing impa irment locus (DFNB42) maps to chromosome 3q13.31-q22.3. (PubMed id 15641023)1, 3 Aslam M....Leal S.M. (2005)
- Characterization of a novel immunoglobulin-like domain containing receptor. (PubMed id 15381095)1, 2 Hauge H.... Aasheim H.-C. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
- A new recurrent chromosomal translocation t(3;11)(q13; q14) in myelodysplastic syndromes associated with overexpression of the ILDR1 ge ne. (PubMed id 22365942)1 Zagaria A....Albano F. (2012)
- Genome-wide meta-analysis identifies novel multiple sc lerosis susceptibility loci. (PubMed id 22190364)1 Patsopoulos N.A....de Bakker P.I. (2011)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
|
External Searches for ILDR1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing ILDR1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ILDR1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ILDR1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for ILDR1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for ILDR1 gene:
Search GeneIP for patents involving ILDR1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for ILDR1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for ILDR1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ILDR1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ILDR1 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for ILDR1 | | OriGene 3'-UTR Clone for ILDR1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ILDR1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ILDR1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ILDR1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ILDR1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ILDR1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ILDR1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ILDR1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ILDR1 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ILDR1 |
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