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51151 SLC45A2

51151

SLC45A2

solute carrier family 45 member 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition solute carrier family 45 member 2

研究结论

Date Results Publications
2020-06-27 12:29:00 A novel deletion mutation c.579delG [p.(Gly194Valfs*7)] in the SLC45A2 gene, predicted to be pathogenic and to result in both frameshift and premature termination of the MATP chain, was identified in a family. 31630438
2020-01-18 12:16:00 Study in two unrelated oculocutaneous albinism (OCA)-suspected Japanese female patients concluded that the homozygous 4-bp deletion variant (rs984225803) in the promoter region of SLC45A2 caused the OCA-like phenotype. 30809845
2019-02-16 10:05:00 AIM1 first Greek motif g1 is required for the main physiological functions of AIM1.AIM1 interaction with beta-actin. 30544954
2018-07-07 11:30:00 Study confirmed a significant role for IRF4 rs12203592 and SLC45A2 rs16891982 in the risk of cutaneous squamous cell carcinoma development in organ transplant recipients. 27566401
2018-04-28 10:53:00 our study demonstrates the feasibility of using tandem MS as a means of discovering shared immunogenic tumor-associated epitopes and identifies SLC45A2 as a promising immunotherapeutic target for melanoma with high tumor selectivity and reduced potential for autoimmune toxicity 28630054

名称对应

Type IDs
Synonymous 1A1, AIM1, MATP, OCA4, SHEP5
Gene
UniProtKB-ID: S45A2_HUMAN, A0A076YGN1_HUMAN, A0A076YIB8_HUMAN, D6RGY6_HUMAN
UniprotKB: Q9UMX9, A0A076YGN1, A0A076YIB8, D6RGY6
UniParc: UPI0000F23CE0, UPI00004141DB, UPI00001AEC19, UPI000020C936, UPI000012ECBB, UPI0001D3B18F
EMBL: KF860231, KF860313, KF860247, KF860246, KF860297, KF860262, KF860266, KF860294, KF860234, KF860289, KF860258, KF860335, KF860264, KF860283, KF860320, KF860338, KF860276, KF860224, KF860230, KF860317, KF860242, KF860337, KF860222, KF860265, KF860220, KF860342, KF860310, KF860259, KF860316, KF860219, KF860319, KF860214, KF860255, KF860227, KF860321, KF860252, KF860211, KF860277, KF860267, KF860299, KF860312, KF860340, KF860228, KF860303, KF860256, KF860226, KF860216, KF860254, CH471118, KF860311, KF860210, KF860292, KF860332, KF860324, KF860225, KF860318, KF860250, KF860300, KF860279, KF860271, KF860336, KF860233, KF860285, KF860326, KF860257, KF860302, KF860260, KF860280, KF860295, KF860334, KF860245, AC139783, KF860344, KF860315, KF860261, AC139777, KF860241, BC064405, KF860253, KF860328, KF860244, KF860325, KF860343, KF860288, KF860293, KF860296, KF860281, KF860263, KF860286, KF860238, KF860240, KF860309, KF860284, KF860236, KF860217, KF860301, KF860274, KF860229, KF860272, KF860322, KF860249, KF860269, KF860306, KF860291, KF860251, KF860323, KF860308, KF860290, KF860287, KF860209, KF860215, KF860305, KF860282, KF860331, KF860298, KF860333, KF860307, KF860232, AF172849, KF860270, KF860278, KF860248, KF860223, KF860330, KF860339, KF860212, KF860314, KF860218, BC003597, KF860304, KF860268, KF860275, KF860273, KF860327, KF860243
Ensembl: ENSG00000164175
KO: hsa:51151
Nucleutide sequences
EMBL-CDS: AAH03597.1, AAD51812.1, AAH64405.1, AIK67204.1, AIK67254.1, AIK67174.1, AIK67293.1, AIK67201.1, AIK67270.1, AIK67246.1, AIK67245.1, AIK67282.1, AIK67277.1, AIK67256.1, AIK67200.1, AIK67252.1, AIK67255.1, AIK67266.1, AIK67259.1, AIK67250.1, AIK67265.1, AIK67164.1, AIK67260.1, AIK67274.1, AIK67223.1, AIK67288.1, AIK67283.1, AIK67184.1, AIK67231.1, AIK67232.1, AIK67240.1, AIK67295.1, AIK67175.1, AIK67169.1, AIK67219.1, AIK67195.1, AIK67198.1, AIK67211.1, AIK67173.1, AIK67298.1, AIK67235.1, AIK67181.1, AIK67281.1, AIK67244.1, AIK67257.1, AIK67251.1, AIK67289.1, AIK67264.1, AIK67218.1, AIK67216.1, AIK67167.1, AIK67236.1, AIK67188.1, AIK67278.1, AIK67225.1, AIK67205.1, AIK67234.1, AIK67253.1, AIK67261.1, AIK67271.1, AIK67199.1, AIK67212.1, AIK67299.1, AIK67189.1, AIK67185.1, AIK67171.1, AIK67183.1, AIK67224.1, AIK67177.1, AIK67249.1, AIK67291.1, AIK67187.1, AIK67217.1, AIK67248.1, AIK67239.1, AIK67238.1, AIK67170.1, AIK67215.1, AIK67243.1, AIK67262.1, AIK67203.1, AIK67275.1, AIK67294.1, AIK67269.1, AIK67258.1, AIK67279.1, AIK67206.1, AIK67233.1, AIK67179.1, AIK67242.1, AIK67273.1, AIK67197.1, AIK67180.1, AIK67213.1, AIK67229.1, AIK67193.1, AIK67221.1, AIK67285.1, AIK67227.1, AIK67191.1, AIK67292.1, AIK67207.1, AIK67226.1, AIK67241.1, AIK67276.1, AIK67247.1, AIK67237.1, AIK67268.1, AIK67286.1, AIK67287.1, AIK67209.1, AIK67263.1, AIK67297.1, AIK67272.1, AIK67267.1, AIK67165.1, AIK67172.1, AIK67228.1, AIK67186.1, AIK67220.1, AIK67230.1, AIK67290.1, AIK67178.1, AIK67214.1, EAX10811.1, AIK67182.1, AIK67280.1, AIK67166.1, AIK67222.1, AIK67208.1, AIK67202.1, AIK67196.1, AIK67210.1
Gene_ORFName: hCG_37411
Ensembl_TRS: ENST00000296589, ENST00000382102, ENST00000509381
Protein sequencees
Ensembl_PRO: ENSP00000296589, ENSP00000371534, ENSP00000421100
RefSeq: NP_001284346.2, NP_001012527.2, NP_057264.4
Others
UniRef100: UniRef100_A0A076YGN1, UniRef100_Q9UMX9, UniRef100_D6RGY6
UniRef90: UniRef90_D6RGY6, UniRef90_Q9UMX9
UniRef50: UniRef50_D6RGY6, UniRef50_Q9UMX9
UniGene: Hs.278962
CCDS: CCDS43308.1, CCDS3901.1

全选

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