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8675 STX16

8675

STX16

syntaxin 16

protein-coding

Homo sapiens

基因描述

Type Description
Definition syntaxin 16

研究结论

Date Results Publications
2017-10-21 11:59:00 we here present a patient with PHP1b caused by a recurrent STX16 deletion, presenting with macrosomia, early onset obesity, and macrocephaly without other AHO symptoms. we reemphasize STX16 deletions and PHP1b as a rare cause for early onset obesity and macrosomia. 27338644
2016-04-02 10:57:00 STX16 microdeletion was identified in male monozygotic twins (with pseudohypoparathyroidism type 1B leading to growth hormone deficiency) and mother/grandmother (not father/grandfather or sister [their triplet with separate placenta]). [CASE STUDY] 25843330
2014-06-28 10:27:00 syntaxin 16 is a key regulator of cytokinesis. 24109596
2014-02-08 10:36:00 Data indicate that depletion of VAMP4, syntaxin 6, syntaxin 16, and Vti1a disrupted the Golgi ribbon structure. 23677696
2013-08-31 12:00:00 A patient with familial pseudohypoparathyroidism type Ib and his asymptomatic brother were found to have methylation defect at GNAS (guanine nucleotide-binding protein G) and microdeletion involving exons 4-6 of neighboring gene STX16. [CASE REPORT] 23095209

名称对应

Type IDs
Synonymous SYN16
Gene
UniProtKB-ID: STX16_HUMAN, B4DJX9_HUMAN
UniprotKB: O14662, B4DJX9
UniParc: UPI00001415F2, UPI000016964B, UPI00002067CC, UPI0000376BCD, UPI000006E863, UPI00001415D4, UPI00002067CA
EMBL: BX396221, AK296282, AL050327, AL139349, AF008936, BC019042, AF008937, AF008935, AK316547, BC073876, AF038897, CH471077
Ensembl: ENSG00000124222
KO: hsa:8675
Nucleutide sequences
EMBL-CDS: AAH73876.1, AAC05647.1, EAW75485.1, AAB69284.1, EAW75481.1, EAW75486.1, AAH19042.1, EAW75482.1, AAB69282.1, EAW75484.1, AAB69283.1, EAW75487.1, EAW75483.1, BAH14918.1, BAG58991.1
Gene_ORFName: hCG_28549
Ensembl_TRS: ENST00000359617, ENST00000358029, ENST00000467096, ENST00000355957, ENST00000371141, ENST00000361830, ENST00000371132
Protein sequencees
Ensembl_PRO: ENSP00000360173, ENSP00000434369, ENSP00000360183, ENSP00000354445, ENSP00000352634, ENSP00000348229, ENSP00000350723
RefSeq: NP_001128245.1, NP_001191797.1, NP_001128244.1, NP_001001433.1, NP_003754.2
Others
UniRef100: UniRef100_O14662
UniRef90: UniRef90_O14662
UniRef50: UniRef50_O14662
UniGene: Hs.307913
CCDS: CCDS13468.1, CCDS13469.1, CCDS56199.1, CCDS46620.1, CCDS46619.1

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