SLC26A4 - solute carrier family 26 member 4-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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5172 SLC26A4

基因描述

Type	Description
Definition	solute carrier family 26 member 4

研究结论

Date	Results	Publications
2021-03-06 13:30:00	[Molecular and functional testing in case of hereditary hearing loss associated with the SLC26A4 gene].", trans "Molekulare und funktionale Abklarung hereditarer Schwerhorigkeiten am Beispiel des SLC26A4-Gens.	33307573
2021-01-09 13:29:00	Next-generation sequencing-based mutation analysis of genes associated with enlarged vestibular aqueduct in Chinese families.	32447495
2020-12-26 13:12:00	The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China.	32645618
2020-09-26 13:04:00	Port-wine stains associated with large vestibular aqueduct syndrome caused by mutations in GNAQ and SLC26A4 genes: A case report.	31692010
2020-08-01 11:54:00	Point mutations leading to amino acid substitution in the EPHA2 gene are identified from patients bearing mono-allelic mutation of SLC26A4.	32165640

名称对应

Type	IDs
Synonymous	DFNB4, EVA, PDS, TDH2B
Gene	UniProtKB-ID: S26A4_HUMAN UniprotKB: O43511 UniParc: UPI00001315A4, UPI000020F8F2 EMBL: AC078937, AC002467, AF030880, AK294388 Ensembl: ENSG00000091137 KO: hsa:5172
Nucleutide sequences	EMBL-CDS: BAH11752.1, AAC51873.1, AAB88773.2 Ensembl_TRS: ENST00000644269
Protein sequencees	Ensembl_PRO: ENSP00000494017 RefSeq: XP_005250482.1, XP_006716088.1, XP_016867807.1, NP_000432.1
Others	UniRef100: UniRef100_O43511 UniRef90: UniRef90_O43511 UniRef50: UniRef50_O43511 UniGene: Hs.571246 CCDS: CCDS5746.1

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mRNA

Protein

UniprotKB

Description

Refseq

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全选

Pubmed编号	文献信息	发表日期	相关基因
32447495	Next-generation sequencing-based mutation analysis of genes associated with enlarged vestibular aqueduct in Chinese families. Eur Arch Otorhinolaryngol Yalan Liu , Jie Wen , Shushan Sang , Lingyun Mei , Chufeng He , Lu Jiang , Sida Huang , Yong Feng	2020-12-01	-
33307573	[Molecular and functional testing in case of hereditary hearing loss associated with the SLC26A4 gene]. Laryngorhinootologie Sebastian Roesch , Emanuele Bernardinelli , Saskia Wortmann , Johannes A Mayr , Ingrid Bader , Gregor Schweighofer-Zwink , Gerd Rasp , Silvia Dossena	2020-12-01	-
32645618	The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China. Int. J. Pediatr. Otorhinolaryngol. Xiao-Wen Liu , Jian-Chao Wang , Su-Yang Wang , Shu-Juan Li , Yi-Ming Zhu , Wen-Juan Ding , Chen-Yang Xu , Lei Duan , Bai-Cheng Xu , Yu-Fen Guo	2020-09-01	-
32165640	Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome. Nat Commun Mengnan Li , Shin-Ya Nishio , Chie Naruse , Meghan Riddell , Sabrina Sapski , Tatsuya Katsuno , Takao Hikita , Fatemeh Mizapourshafiyi , Fiona M Smith , Leanne T Cooper , Min Goo Lee , Masahide Asano , Thomas Boettger , Marcus Krueger , Astrid Wietelmann , Johannes Graumann , Bryan W Day , Andrew W Boyd , Stefan Offermanns , Shin-Ichiro Kitajiri , Shin-Ichi Usami , Masanori Nakayama	2020-03-12	-
31971949	Computational analysis of functional single nucleotide polymorphisms associated with SLC26A4 gene. PLoS ONE Mirza Jawad Ul Hasnain , Muhammad Shoaib , Salman Qadri , Bakhtawar Afzal , Tehreem Anwar , Syed Hassan Abbas , Amina Sarwar , Hafiz Muhammad Talha Malik , Muhammad Tariq Pervez	2020-01-01	-
31692010	Port-wine stains associated with large vestibular aqueduct syndrome caused by mutations in GNAQ and SLC26A4 genes: A case report. J. Dermatol. Tianxin Cong , Lian Liu , Haoyi Zhang , Lian Wang , Xian Jiang	2020-01-01	-
31918801	Upregulation of Slc26a4 in the Early Development of Silicosis via GEO Database Analysis in vivo and in vitro. Biomed. Environ. Sci. Qing Tao Jiang , Lei Han , Xin Liu , Bao Li Zhu	2019-12-01	-
31656273	Mutation analysis of the SLC26A4 gene in three Chinese families. Biosci Trends Cheng Wen , Shijie Wang , Xuelei Zhao , Xianlei Wang , Xueyao Wang , Xiaohua Cheng , Lihui Huang	2019-11-13	-
31633822	Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA. Laryngoscope Kristianna Mey , Ali A Muhamad , Lisbeth Tranebjaerg , Nanna D Rendtorff , Stig H Rasmussen , Michael Bille , Per CayÃ©-Thomasen	2019-11-01	-
31187663	A pathogenic variant in SLC26A4 is associated with Pendred syndrome in a consanguineous Iranian family. Int J Audiol Azam Pourahmadiyan , Paria Alipour , Najmeh Fattahi , Mahbubeh Kasiri , Fateme Rezaeian , Afsaneh Taghipour-Sheshdeh , Javad Mohammadi-Asl , Mohammad Amin Tabatabaiefar , Morteza Hashemzadeh Chaleshtori	2019-10-01	-

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