ILDR1 - immunoglobulin like domain containing receptor 1-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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286676 ILDR1

基因描述

Type	Description
Definition	immunoglobulin like domain containing receptor 1

研究结论

Date	Results	Publications
2018-12-01 12:11:00	The study shows that the novel p.G141R mutation in ILDR1 is the likely genetic cause for the hearing impairment in two unrelated Chinese Han DFNB42 families.	29849566
2017-12-30 10:51:00	this is the first ILDR1 and MYO6 mutations recognized in the southwest Iran. Our data expands the spectrum of mutations in ILDR1 and MYO6 genes.	29224747
2017-10-28 13:23:00	The present study reports a first ILDR1 gene mutation in a consanguineous family with hearing loss in the UAE, and confirms that the whole-exome sequencing approach is a robust tool for the diagnosis of monogenic diseases with high levels of allelic and locus heterogeneity.	28945813
2017-05-13 21:58:00	We discovered two genome-wide significant SNPs. The first was novel and near ISG20. The second was in TRIOBP, a gene previously associated with prelingual nonsyndromic hearing loss. Motivated by our TRIOBP results, we also looked at exons in known hearing loss genes, and identified two additional SNPs, rs2877561 in ILDR1 and rs9493672 in EYA4 (at a significance threshold adjusted for number of SNPs in those regions).	27764096
2016-04-16 10:50:00	consanguineous deaf families with novelmutations in the ILDR1 gene, were identified.	26440088

名称对应

Type	IDs
Synonymous	DFNB42, ILDR1alpha, ILDR1alpha', ILDR1beta
Gene	UniProtKB-ID: ILDR1_HUMAN UniprotKB: Q86SU0 UniParc: UPI00001B3DAC, UPI000000DA80, UPI00003FF1E3, UPI00001C1120, UPI00003FF1E2, UPI00003FF1E4 EMBL: AK129974, AY672838, AY134857, BC044240, AY672837, AY672839 Ensembl: ENSG00000145103 KO: hsa:286676
Nucleutide sequences	EMBL-CDS: BAC85264.1, AAH44240.1, AAN10256.1 Ensembl_TRS: ENST00000393631, ENST00000344209, ENST00000273691, ENST00000642615
Protein sequencees	Ensembl_PRO: ENSP00000495499, ENSP00000273691, ENSP00000345667, ENSP00000377251 RefSeq: NP_001186728.1, XP_005247446.1, XP_011511041.1, NP_787120.1, XP_011511040.1, NP_001186729.1
Others	UniRef100: UniRef100_Q86SU0 UniRef90: UniRef90_Q86SU0 UniRef50: UniRef50_Q86SU0 UniGene: Hs.98484 CCDS: CCDS56271.1, CCDS56270.1, CCDS3008.1

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mRNA

Protein

UniprotKB

Description

Refseq

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Pubmed编号	文献信息	发表日期	相关基因
30232004	ÎNp63Î± Suppresses TGFB2 Expression and RHOA Activity to Drive Cell Proliferation in Squamous Cell Carcinomas. Cell Rep Christopher G Abraham , Michael P Ludwig , Zdenek Andrysik , Ahwan Pandey , Molishree Joshi , Matthew D Galbraith , Kelly D Sullivan , Joaquin M Espinosa	2018-09-18	-
29849566	A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families. Neural Plast. Xueling Wang , Longhao Wang , Hu Peng , Tao Yang , Hao Wu	2018-01-01	-
29224747	Next-generation sequencing identifies three novel missense variants in ILDR1 and MYO6 genes in an Iranian family with hearing loss with review of the literature. Int. J. Pediatr. Otorhinolaryngol. Farah Talebi , Farideh Ghanbari Mardasi , Javad Mohammadi Asl , Masoomeh Sayahi	2017-12-01	-
28514442	Architecture of the human interactome defines protein communities and disease networks. Nature Edward L Huttlin , Raphael J Bruckner , Joao A Paulo , Joe R Cannon , Lily Ting , Kurt Baltier , Greg Colby , Fana Gebreab , Melanie P Gygi , Hannah Parzen , John Szpyt , Stanley Tam , Gabriela Zarraga , Laura Pontano-Vaites , Sharan Swarup , Anne E White , Devin K Schweppe , Ramin Rad , Brian K Erickson , Robert A Obar , K G Guruharsha , Kejie Li , Spyros Artavanis-Tsakonas , Steven P Gygi , J Wade Harper	2017-05-25	-
28945813	Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation. PLoS ONE Abdelaziz Tlili , Abdullah Fahd Al Mutery , Mona Mahfood , Walaa Kamal Eddine Ahmad Mohamed , Khalid Bajou	2017-01-01	-
27764096	A Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health Records. PLoS Genet Thomas J Hoffmann , Bronya J Keats , Noriko Yoshikawa , Catherine Schaefer , Neil Risch , Lawrence R Lustig	2016-10-01	-
26440088	Two novel mutations in ILDR1 gene cause autosomal recessive nonsyndromic hearing loss in consanguineous Iranian families. J. Genet. Zohreh Mehrjoo , Mojgan Babanejad , Kimia Kahrizi , Hossein Najmabadi	2015-09-01	-
25668204	Downsloping high-frequency hearing loss due to inner ear tricellular tight junction disruption by a novel ILDR1 mutation in the Ig-like domain. PLoS ONE Nayoung K D Kim , Tomohito Higashi , Kyoung Yeul Lee , Ah Reum Kim , Shin-ichiro Kitajiri , Min Young Kim , Mun Young Chang , Veronica Kim , Seung-Ha Oh , Dongsup Kim , Mikio Furuse , Woong-Yang Park , Byung Yoon Choi	2015-01-01	-
24768815	ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population. Eur J Med Genet Khushnooda Ramzan , Khalid Taibah , Asma I Tahir , Nada Al-Tassan , Amal Berhan , Ahmed M Khater , Selwa A F Al-Hazzaa , Mohammed Al-Owain , Faiqa Imtiaz	2014-04-21	ILDR1
23239027	Analysis of the 'angulin' proteins LSR, ILDR1 and ILDR2--tricellulin recruitment, epithelial barrier function and implication in deafness pathogenesis. J. Cell. Sci. Tomohito Higashi , Shinsaku Tokuda , Shin-ichiro Kitajiri , Sayuri Masuda , Hiroki Nakamura , Yukako Oda , Mikio Furuse	2013-02-15	Ildr2, Ildr1, Marveld2, MARVELD2, ILDR1

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