ILDR1 (immunoglobulin like domain containing receptor 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 286676
Gene name Immunoglobulin like domain containing receptor 1
Gene symbol ILDR1
Synonyms (NCBI Gene)
DFNB42ILDR1alphaILDR1alpha'ILDR1beta
Chromosome 3
Chromosome location 3q13.33
Summary 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.
11
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.
112
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
609739 28741 ENSG00000145103
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (8)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal recessive nonsyndromic hearing loss 42 Pathogenic; Likely pathogenic rs2107644932, rs2071591086, rs1419827895, rs387907015, rs387907016, rs387907017, rs571007078, rs775062249, rs1226171550, rs1559875009, rs752714222 RCV001728008
RCV001728009
RCV003486220
RCV000023781
RCV000023782
RCV000023783
RCV002483759
RCV000681526
RCV000681544
RCV000770825
RCV000857239
Childhood onset hearing loss Likely pathogenic; Pathogenic rs920852517, rs2071865513 RCV001328006
RCV001328007
Congenital sensorineural hearing impairment Likely pathogenic; Pathogenic rs571007078 RCV000626783
Deafness Likely pathogenic; Pathogenic rs1559870857 RCV000679819
Show/Hide Unknown Diseases (11)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs142243054 RCV005889054
Cervical cancer Benign; Likely benign rs142243054 RCV005889056
Clear cell carcinoma of kidney Benign; Likely benign rs142243054 RCV005889057
Colorectal cancer Benign; Likely benign rs142243054 RCV005889058
Show/Hide Text Mining Associations (13)
Associations from Text MiningDisease 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