ILDR1 (immunoglobulin like domain containing receptor 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
286676
Gene name Gene Name - the full gene name approved by the HGNC.
Immunoglobulin like domain containing receptor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ILDR1
Synonyms (NCBI Gene) Gene synonyms aliases
DFNB42, ILDR1alpha, ILDR1alpha', ILDR1beta
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q13.33
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that contains an immunoglobulin-like domain. The encoded protein may function as a multimeric receptor at the cell surface. The expression of this gene may be a diagnostic marker for cancer progression. Alternatively spliced tr
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(11)
SNP ID Visualize variation Clinical significance Consequence
rs142746163 G>A Pathogenic, uncertain-significance Stop gained, intron variant, coding sequence variant
rs186672543 C>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs387907015 C>A Pathogenic Coding sequence variant, stop gained
rs387907016 C>T Pathogenic Genic upstream transcript variant, initiator codon variant, intron variant, missense variant
rs387907017 G>A Pathogenic Coding sequence variant, stop gained, intron variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(112)
miRTarBase ID miRNA Experiments Reference
MIRT017263 hsa-miR-335-5p Microarray 18185580
MIRT531577 hsa-miR-483-5p PAR-CLIP 22012620
MIRT531576 hsa-miR-3929 PAR-CLIP 22012620
MIRT531575 hsa-miR-4419b PAR-CLIP 22012620
MIRT531574 hsa-miR-4478 PAR-CLIP 22012620
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(35)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 23239027
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA 15381095
GO:0005829 Component Cytosol IEA
GO:0005886 Component Plasma membrane IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
609739 28741 ENSG00000145103
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q86SU0
Protein name Immunoglobulin-like domain-containing receptor 1 (Angulin-2)
Protein function Maintains epithelial barrier function by recruiting MARVELD2/tricellulin to tricellular tight junctions (tTJs) (PubMed:23239027). Crucial for normal hearing by maintaining the structural and functional integrity of tTJs, which are critical for t
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05624 LSR 167 → 214 Lipolysis stimulated receptor (LSR) Domain
Tissue specificity TISSUE SPECIFICITY: Mainly expressed in prostate and to a lower extent in testis, pancreas, kidney, heart and liver. {ECO:0000269|PubMed:15381095}.
Sequence 
MAWPKLPAPWLLLCTWLPAGCLSLLVTVQHTERYVTLFASIILKCDYTTSAQLQDVVVTW
RFKSFCKDPIFDYYSASYQAALSLGQDPSNDCNDNQREVRIVAQRRGQNEPVLGVDYRQR
KITIQNRADLVINEVMWWDHGVYYCTIEAPGDTSGDPDKEVKLIVLHWLTVIFIILGALL
LLLLIGVCWCQCCPQYCCCYIRCPCCPAHCCCPEEALARHRYMKQAQALGPQMMGKPLYW
GADRSSQVSSYPMHPLLQRDLSLPSSLPQMPMTQTTNQPPIANGVLEYLEKELRNLNLAQ
PLPPDLKGRFGHPCSMLSSLGSEVVERRIIHLPPLIRDLSSSRRTSDSLHQQWLTPIPSR
PWDLREGRSHHHYPDFHQELQDRGPKSWALERRELDPSWSGRHRSSRLNGSPIHWSDRDS
LSDVPSSSEARWRPSHPPFRSRCQERPRRPSPRESTQRHGRRRRHRSYSPPLPSGLSSWS
SEEDKERQPQSWRAHRRGSHSPHWPEEKPPSYRSLDITPGKNSRKKGSVERRSEKDSSHS
GRSVVI
Sequence length 546
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Deafness Autosomal recessive nonsyndromic hearing loss 42 rs775062249, rs1226171550, rs387907015, rs1559875009, rs387907016, rs752714222, rs387907017, rs571007078 N/A
deafness Deafness rs1559870857 N/A
Hearing Loss Hearing loss, autosomal recessive rs1559870857, rs775062249, rs1226171550, rs387907016 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Atopic asthma, Asthma, Asthma (childhood onset) N/A N/A GWAS
hearing impairment Hearing impairment N/A N/A ClinVar
Hypothyroidism Hypothyroidism N/A N/A GWAS
Show/Hide Text Mining Associations (13)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Age Related Hearing Impairment 1 Associate 27764096, 36814109
Deafness Associate 23226338, 25668204, 29849566
Deafness Stimulate 29849566
Hearing Loss Associate 29849566, 36814109
Hearing Loss Stimulate 29849566
Hearing Loss High Frequency Associate 25668204
Hearing Loss Sensorineural Associate 25668204
Lymphoma Large B Cell Diffuse Associate 31600786
Nonsyndromic Deafness Stimulate 15641023
Nonsyndromic Deafness Associate 23226338, 26226137, 29849566, 34837038