ILDR1 (immunoglobulin like domain containing receptor 1)

Gene

• Entrez ID: 286676
• Gene name: Immunoglobulin like domain containing receptor 1
• Gene symbol: ILDR1
• Synonyms (NCBI Gene): DFNB42, ILDR1alpha, ILDR1alpha', 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 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
rs571007078	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs752714222	G>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs775062249	G>A	Pathogenic	Coding sequence variant, stop gained
rs1226171550	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1559870857	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559875009	C>A	Pathogenic	Stop gained, intron variant, coding sequence variant

miRNA

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
MIRT531573	hsa-miR-4307	PAR-CLIP	22012620
MIRT531572	hsa-miR-6840-3p	PAR-CLIP	22012620
MIRT531571	hsa-miR-1915-3p	PAR-CLIP	22012620
MIRT531570	hsa-miR-6764-5p	PAR-CLIP	22012620
MIRT531569	hsa-miR-4726-3p	PAR-CLIP	22012620
MIRT531568	hsa-miR-1304-3p	PAR-CLIP	22012620
MIRT531566	hsa-miR-6832-5p	PAR-CLIP	22012620
MIRT531567	hsa-miR-4732-5p	PAR-CLIP	22012620
MIRT531565	hsa-miR-7977	PAR-CLIP	22012620
MIRT531564	hsa-miR-3674	PAR-CLIP	22012620
MIRT531563	hsa-miR-1303	PAR-CLIP	22012620
MIRT442408	hsa-miR-548ae-3p	PAR-CLIP	22100165
MIRT442407	hsa-miR-548ah-3p	PAR-CLIP	22100165
MIRT442406	hsa-miR-548aj-3p	PAR-CLIP	22100165
MIRT442405	hsa-miR-548am-3p	PAR-CLIP	22100165
MIRT442404	hsa-miR-548aq-3p	PAR-CLIP	22100165
MIRT442403	hsa-miR-548j-3p	PAR-CLIP	22100165
MIRT442402	hsa-miR-548x-3p	PAR-CLIP	22100165
MIRT442401	hsa-miR-548a-3p	PAR-CLIP	22100165
MIRT442400	hsa-miR-548ar-3p	PAR-CLIP	22100165
MIRT442399	hsa-miR-548az-3p	PAR-CLIP	22100165
MIRT442398	hsa-miR-548e-3p	PAR-CLIP	22100165
MIRT442397	hsa-miR-548f-3p	PAR-CLIP	22100165
MIRT442396	hsa-miR-4330	PAR-CLIP	22100165
MIRT442408	hsa-miR-548ae-3p	PAR-CLIP	22100165
MIRT442407	hsa-miR-548ah-3p	PAR-CLIP	22100165
MIRT442406	hsa-miR-548aj-3p	PAR-CLIP	22100165
MIRT442405	hsa-miR-548am-3p	PAR-CLIP	22100165
MIRT442404	hsa-miR-548aq-3p	PAR-CLIP	22100165
MIRT442403	hsa-miR-548j-3p	PAR-CLIP	22100165
MIRT442402	hsa-miR-548x-3p	PAR-CLIP	22100165
MIRT442401	hsa-miR-548a-3p	PAR-CLIP	22100165
MIRT442400	hsa-miR-548ar-3p	PAR-CLIP	22100165
MIRT442399	hsa-miR-548az-3p	PAR-CLIP	22100165
MIRT442398	hsa-miR-548e-3p	PAR-CLIP	22100165
MIRT442397	hsa-miR-548f-3p	PAR-CLIP	22100165
MIRT442396	hsa-miR-4330	PAR-CLIP	22100165
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
MIRT531573	hsa-miR-4307	PAR-CLIP	22012620
MIRT531572	hsa-miR-6840-3p	PAR-CLIP	22012620
MIRT531571	hsa-miR-1915-3p	PAR-CLIP	22012620
MIRT531570	hsa-miR-6764-5p	PAR-CLIP	22012620
MIRT531569	hsa-miR-4726-3p	PAR-CLIP	22012620
MIRT531568	hsa-miR-1304-3p	PAR-CLIP	22012620
MIRT531566	hsa-miR-6832-5p	PAR-CLIP	22012620
MIRT531567	hsa-miR-4732-5p	PAR-CLIP	22012620
MIRT531565	hsa-miR-7977	PAR-CLIP	22012620
MIRT531564	hsa-miR-3674	PAR-CLIP	22012620
MIRT531563	hsa-miR-1303	PAR-CLIP	22012620
MIRT442408	hsa-miR-548ae-3p	PAR-CLIP	22100165
MIRT442407	hsa-miR-548ah-3p	PAR-CLIP	22100165
MIRT442406	hsa-miR-548aj-3p	PAR-CLIP	22100165
MIRT442405	hsa-miR-548am-3p	PAR-CLIP	22100165
MIRT442404	hsa-miR-548aq-3p	PAR-CLIP	22100165
MIRT442403	hsa-miR-548j-3p	PAR-CLIP	22100165
MIRT442402	hsa-miR-548x-3p	PAR-CLIP	22100165
MIRT442401	hsa-miR-548a-3p	PAR-CLIP	22100165
MIRT442400	hsa-miR-548ar-3p	PAR-CLIP	22100165
MIRT442399	hsa-miR-548az-3p	PAR-CLIP	22100165
MIRT442398	hsa-miR-548e-3p	PAR-CLIP	22100165
MIRT442397	hsa-miR-548f-3p	PAR-CLIP	22100165
MIRT442396	hsa-miR-4330	PAR-CLIP	22100165
MIRT442408	hsa-miR-548ae-3p	PAR-CLIP	22100165
MIRT442407	hsa-miR-548ah-3p	PAR-CLIP	22100165
MIRT442406	hsa-miR-548aj-3p	PAR-CLIP	22100165
MIRT442405	hsa-miR-548am-3p	PAR-CLIP	22100165
MIRT442404	hsa-miR-548aq-3p	PAR-CLIP	22100165
MIRT442403	hsa-miR-548j-3p	PAR-CLIP	22100165
MIRT442402	hsa-miR-548x-3p	PAR-CLIP	22100165
MIRT442401	hsa-miR-548a-3p	PAR-CLIP	22100165
MIRT442400	hsa-miR-548ar-3p	PAR-CLIP	22100165
MIRT442399	hsa-miR-548az-3p	PAR-CLIP	22100165
MIRT442398	hsa-miR-548e-3p	PAR-CLIP	22100165
MIRT442397	hsa-miR-548f-3p	PAR-CLIP	22100165
MIRT442396	hsa-miR-4330	PAR-CLIP	22100165
MIRT1065288	hsa-miR-129-5p	CLIP-seq
MIRT1065289	hsa-miR-1301	CLIP-seq
MIRT1065290	hsa-miR-1343	CLIP-seq
MIRT1065291	hsa-miR-3652	CLIP-seq
MIRT1065292	hsa-miR-378g	CLIP-seq
MIRT1065293	hsa-miR-4317	CLIP-seq
MIRT1065294	hsa-miR-4325	CLIP-seq
MIRT1065295	hsa-miR-4430	CLIP-seq
MIRT1065296	hsa-miR-4437	CLIP-seq
MIRT1065297	hsa-miR-4674	CLIP-seq
MIRT1065298	hsa-miR-483-3p	CLIP-seq
MIRT1065299	hsa-miR-5047	CLIP-seq
MIRT2015533	hsa-miR-4659a-3p	CLIP-seq
MIRT2015534	hsa-miR-4659b-3p	CLIP-seq
MIRT2247838	hsa-miR-106a	CLIP-seq
MIRT2247839	hsa-miR-106b	CLIP-seq
MIRT2247840	hsa-miR-17	CLIP-seq
MIRT2247841	hsa-miR-20a	CLIP-seq
MIRT2247842	hsa-miR-20b	CLIP-seq
MIRT2247843	hsa-miR-218	CLIP-seq
MIRT2247844	hsa-miR-382	CLIP-seq
MIRT2247845	hsa-miR-3934	CLIP-seq
MIRT2247846	hsa-miR-4537	CLIP-seq
MIRT2247847	hsa-miR-5095	CLIP-seq
MIRT2247848	hsa-miR-519d	CLIP-seq
MIRT2247849	hsa-miR-552	CLIP-seq
MIRT2247850	hsa-miR-562	CLIP-seq
MIRT2247851	hsa-miR-636	CLIP-seq
MIRT2247852	hsa-miR-93	CLIP-seq

Gene ontology (GO)

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
GO:0005886	Component	Plasma membrane	IDA	15381095
GO:0005886	Component	Plasma membrane	IEA
GO:0005923	Component	Bicellular tight junction	IEA
GO:0010669	Process	Epithelial structure maintenance	IEA
GO:0010669	Process	Epithelial structure maintenance	ISS
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0030072	Process	Peptide hormone secretion	IEA
GO:0032991	Component	Protein-containing complex	IDA	15381095
GO:0042802	Function	Identical protein binding	IDA	15381095
GO:0043484	Process	Regulation of RNA splicing	IEA
GO:0043484	Process	Regulation of RNA splicing	ISS
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0061689	Component	Tricellular tight junction	IEA
GO:0061689	Component	Tricellular tight junction	ISS
GO:0061833	Process	Protein localization to tricellular tight junction	IEA
GO:0061833	Process	Protein localization to tricellular tight junction	ISS
GO:0070160	Component	Tight junction	IDA	23239027
GO:0070160	Component	Tight junction	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0070506	Function	High-density lipoprotein particle receptor activity	IBA
GO:0070506	Function	High-density lipoprotein particle receptor activity	IEA
GO:0070506	Function	High-density lipoprotein particle receptor activity	ISS
GO:0070542	Process	Response to fatty acid	IEA
GO:0070542	Process	Response to fatty acid	ISS
GO:0090277	Process	Positive regulation of peptide hormone secretion	IEA
GO:0090277	Process	Positive regulation of peptide hormone secretion	ISS
GO:1904274	Process	Tricellular tight junction assembly	IEA
GO:1904274	Process	Tricellular tight junction assembly	ISS
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA

Other IDs

• MIM: 609739
• HGNC: 28741
• e!Ensembl: ENSG00000145103

Protein

• 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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Childhood onset hearing loss	Likely pathogenic; Pathogenic	rs920852517, rs2071865513	RCV001328006 RCV001328007	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital sensorineural hearing impairment	Likely pathogenic; Pathogenic	rs571007078	RCV000626783	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deafness	Likely pathogenic; Pathogenic	rs1559870857	RCV000679819	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal recessive	Likely pathogenic; Pathogenic	rs387907016, rs1559870857, rs775062249, rs1226171550, rs2071390190	RCV001291340 RCV001291343 RCV001291344 RCV001291341 RCV001291342	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ILDR1-related disorder	Likely pathogenic; Pathogenic	rs920852517	RCV003433114	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonsyndromic genetic hearing loss	Likely pathogenic	rs2472827678, rs2472802944	RCV004018238 RCV004018239	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic deafness	Pathogenic	rs387907017	RCV004017263	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 42	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asthma	Asthma	GWASCAT_DG	30929738		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	GWASCAT_DG	30929738		★☆☆☆☆ Found in Text Mining only
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness	Deafness	Pubtator	23226338, 25668204, 29849566	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deafness	Deafness	Pubtator	29849566	Stimulate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder)	Deafness	UNIPROT_DG	21255762		★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder)	Deafness	GENOMICS_ENGLAND_DG	24990150		★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder)	Deafness	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder)	Deafness	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	31600786		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	29849566, 36814109	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss	Hearing loss	Pubtator	29849566	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss Sensorineural	Hearing loss	Pubtator	25668204	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss, High-Frequency	Hearing Loss	BEFREE	25668204		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	22365942		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	15641023, 21255762, 25217574, 29849566		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	21255762, 22903915, 23226338, 23239027, 24990150, 25819842, 25822906, 27344577		★☆☆☆☆ Found in Text Mining only
Prelingual sensorineural hearing impairment	Sensorineural hearing loss	BEFREE	21255762		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33293427	Associate	★☆☆☆☆ Found in Text Mining only
Refractory anaemia with excess blasts	Myelodysplastic syndrome	BEFREE	22365942		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	22365942		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	25668204		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only