SLC44A4 - solute carrier family 44 member 4-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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80736 SLC44A4

基因描述

Type	Description
Definition	solute carrier family 44 member 4

研究结论

Date	Results	Publications
2017-11-25 12:38:00	We found that rs2736428 was significantly associated with UC risk (allelic p = 0.0004), and the CT and TT genotypes of rs2736428 had a higher distribution compared with the CC genotypes (genotypic p = 0.001), suggesting that the T allele was a risk allele (odds ratio = 1.45, 95% confidence interval = 1.18-1.78). Moreover, one haplotype block that included rs2736428 was found to be strongly associated with UC risk as well	28753073
2017-09-23 10:36:00	Whole-exome sequencing revealed SLC44A4, which encodes the choline transport protein, as the pathogenic gene in this family. In the zebrafish model, downregulation of slc44a4 using morpholinos led to significant abnormalities in the zebrafish inner ear and lateral line neuromasts and contributed, to some extent, to disabilities in hearing and balance.	28013291
2017-07-29 11:25:00	These results suggest (i) apparent allelic heterogeneity in CFB and genetic heterogeneity in SLC44A4 across different ethnic groups; (ii) shared ulcerative colitis genetic etiological factors among Asians	27759029
2016-12-17 11:01:00	Critical genetic polymorphisms in SLC44A4, an ulcerative colitis susceptibility gene, have been identified in a genetic association study in North Indians.	26741288
2016-07-30 10:37:00	epigenetic mechanisms (histone modifications) play a role in determining the tissue-specific pattern of expression of the TPPT along the GI tract.	26901654

名称对应

Type	IDs
Synonymous	C6orf29, CTL4, DFNA72, NG22, TPPT, hTPPT1
Gene	UniProtKB-ID: CTL4_HUMAN, A0A1U9X8K7_HUMAN, A0A140VJH4_HUMAN UniprotKB: Q53GD3, A0A1U9X8K7, A0A140VJH4 UniParc: UPI00004702CE, UPI00001D6978, UPI0001D1E40C, UPI00017A7DAD EMBL: AK301596, HM005361, CR388202, BA000025, CR759784, KY500651, BX005460, AY358457, AL671762, AL844853, AK300550, KU175229, AL833009, AF134726, CR936237, AK027397, AF466766, BC014659, AK222998, AL662834, CH471081 Ensembl: ENSG00000235336, ENSG00000204385, ENSG00000206378, ENSG00000232180, ENSG00000231479, ENSG00000229077, ENSG00000228263 KO: hsa:80736
Nucleutide sequences	EMBL-CDS: AAQ88822.1, BAD96718.1, BAB63296.1, BAG62256.1, AAL75992.1, AAH14659.1, BAB55083.1, BAG63084.1, EAX03538.1, CAH56275.1, AAD21813.1, AQY77123.1, AEE60961.1, ANB32183.1 Gene_ORFName: UNQ441/PRO874 Ensembl_TRS: ENST00000551168, ENST00000453831, ENST00000547684, ENST00000229729, ENST00000546461, ENST00000425238, ENST00000548188, ENST00000415517, ENST00000553121, ENST00000383379, ENST00000644409, ENST00000544672, ENST00000549663, ENST00000547493, ENST00000549677, ENST00000550401, ENST00000442152, ENST00000375562, ENST00000417894
Protein sequencees	Ensembl_PRO: ENSP00000399161, ENSP00000393939, ENSP00000496109, ENSP00000389244, ENSP00000449642, ENSP00000448088, ENSP00000398852, ENSP00000448474, ENSP00000447560, ENSP00000444109, ENSP00000364712, ENSP00000449518, ENSP00000414120, ENSP00000447704, ENSP00000372870, ENSP00000229729, ENSP00000449232, ENSP00000449180, ENSP00000449039 RefSeq: NP_079533.2, NP_001171516.1, NP_001171515.1
Others	UniRef100: UniRef100_Q53GD3 UniRef90: UniRef90_Q53GD3 UniRef50: UniRef50_Q53GD3 UniGene: Hs.335355 CCDS: CCDS4724.2, CCDS54990.1, CCDS54989.1

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mRNA

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Pubmed编号	文献信息	发表日期	相关基因
30021884	Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Mol Cell Proteomics Domenico Fasci , Hugo van Ingen , Richard A Scheltema , Albert J R Heck	2018-10-01	-
28753073	Evaluating the Association of Common Variants of the SLC44A4 Gene with Ulcerative Colitis Susceptibility in the Han Chinese Population. Genet Test Mol Biomarkers Jie Wu , Yan Cheng , Rong Zhang , Hao Shen , Li Ma , Jun Yang , Yanting Zhang , Jun Zhang	2017-09-01	-
28013291	SLC44A4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss. Hum Mol Genet Zhaoxin Ma , Wenjun Xia , Fei Liu , Jing Ma , Shaoyang Sun , Jin Zhang , Nan Jiang , Xu Wang , Jiongjiong Hu , Duan Ma	2017-01-15	-
26828122	The human colonic thiamine pyrophosphate transporter (hTPPT) is a glycoprotein and N-linked glycosylation is important for its function. Biochim Biophys Acta Svetlana M Nabokina , Veedamali S Subramanian , Hamid M Said	2016-04-01	-
26741288	Identification of critical variants within SLC44A4, an ulcerative colitis susceptibility gene identified in a GWAS in north Indians. Genes Immun A Gupta , B K Thelma	2016-03-01	-
26901654	Mechanism(S) Involved in the Colon-Specific Expression of the Thiamine Pyrophosphate (Tpp) Transporter. PLoS One Svetlana M Nabokina , Mel Brendan Ramos , Hamid M Said	2016-01-01	-
27759029	A cross-ethnic survey of CFB and SLC44A4, Indian ulcerative colitis GWAS hits, underscores their potential role in disease susceptibility. Eur J Hum Genet Aditi Gupta , Garima Juyal , Ajit Sood , Vandana Midha , Keiko Yamazaki , Arnau Vich Vila , Motohiro Esaki , Toshiyuki Matsui , Atsushi Takahashi , Michiaki Kubo , Rinse K Weersma , B K Thelma	2016-01-01	-
25715703	Regulation of basal promoter activity of the human thiamine pyrophosphate transporter SLC44A4 in human intestinal epithelial cells. Am J Physiol Cell Physiol Svetlana M Nabokina , Mel Brendan Ramos , Judith E Valle , Hamid M Said	2015-05-01	-
24837172	Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis. Gut Garima Juyal , Sapna Negi , Ajit Sood , Aditi Gupta , Pushplata Prasad , Sabyasachi Senapati , Jacques Zaneveld , Shalini Singh , Vandana Midha , Suzanne van Sommeren , Rinse K Weersma , Jurg Ott , Sanjay Jain , Ramesh C Juyal , B K Thelma	2015-04-01	HSPA1L, HCG26, MSH5, NOTCH4, PTPRC, CFB, SLC44A4
24379411	Molecular identification and functional characterization of the human colonic thiamine pyrophosphate transporter. J Biol Chem Svetlana M Nabokina , Katsuhisa Inoue , Veedamali S Subramanian , Judith E Valle , Hiroaki Yuasa , Hamid M Said	2014-02-14	-

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