1. Gene
  2. SLC2A9 - solute carrier family 2 member 9 Gene

SLC2A9 - solute carrier family 2 member 9 Gene

中文名称:溶质载体家族 2 成员 9

种属: Homo sapiens

同用名: GLUT9; GLUTX; UAQTL2; URATv1

基因 ID: 56606 | 基因类型: protein coding

关于 SLC2A9

Cytogenetic location: 4p16.1 Genomic coordinates (GRCh38): 4:9,771,025-10,040,270 (from NCBI)

This gene has 13 transcripts (splice variants), 296 orthologues, 13 paralogues and is associated with 2 phenotypes. Broad expression in kidney (RPKM 4.4), liver (RPKM 1.6) and 18 other tissues.

功能概要

该基因编码 SLC2A 促进性葡萄糖转运蛋白家族的成员。该家族的成员在维持葡萄糖稳态方面发挥着重要作用。编码的蛋白质可能在软骨基质中软骨细胞的发育和存活中发挥作用。已经为该基因鉴定了编码不同亚型的两个转录物变体。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the SLC2A facilitative glucose transporter family. Members of this family play a significant role in maintaining glucose homeostasis. The encoded protein may play a role in the development and survival of chondrocytes in cartilage matrices. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

SLC2A9 基因产物(2)

mRNA Protein Name
NM_001001290.2 NP_001001290.1 solute carrier family 2, facilitated glucose transporter member 9 isoform 2
NM_020041.3 NP_064425.2 solute carrier family 2, facilitated glucose transporter member 9 isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
NOT enables D-glucose transmembrane transporter activity IDA
IDA: 通过直接分析推断
28083649 GOA
enables D-glucose transmembrane transporter activity IDA
IDA: 通过直接分析推断
18842065 GOA
NOT enables fructose transmembrane transporter activity IDA
IDA: 通过直接分析推断
28083649 GOA
enables fructose transmembrane transporter activity IDA
IDA: 通过直接分析推断
18842065 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
31695625 GOA
enables urate transmembrane transporter activity IDA
IDA: 通过直接分析推断
18327257 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
NOT involved in D-glucose transmembrane transport IDA
IDA: 通过直接分析推断
28083649 GOA
involved in D-glucose transmembrane transport IDA
IDA: 通过直接分析推断
18842065 GOA
NOT involved in fructose transmembrane transport IDA
IDA: 通过直接分析推断
28083649 GOA
involved in fructose transmembrane transport IDA
IDA: 通过直接分析推断
18842065 GOA
involved in urate metabolic process IMP
IMP: 通过突变表型推断
18834626 GOA
involved in urate transport IDA
IDA: 通过直接分析推断
18842065 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in plasma membrane IDA
IDA: 通过直接分析推断
28083649 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

SLC2A9 蛋白结构

Sugar_tr

Sugar_tr: Sugar (and other) transporter (64 - 514)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 540 a.a.
蛋白主名 其他名称

solute carrier family 2, facilitated glucose transporter member 9

GLUT-9

关联疾病

疾病名称 别名
Hypouricemia, Renal, 2

RHUC2

Uric Acid Concentration, Serum, Qtl 2

Hypouricemia Renal 2

Hypouricemia, Renal, Type 2

Hypouricemia, Renal, 1

Dalmatian Hypouricemia

Renal Hypouricemia

Hypouricemia, Renal

Familial Renal Hypouricemia

RHUC1

Hereditary Renal Hypouricemia

Familial Renal Hypouricaemia

Rhuc

Hypouricemia Renal 1

Hypouricemia, Renal, Type 1

Nephrolithiasis

Kidney Stones

Stone - Kidney/Ureter

Kidney Calculi

Nephrolithiasis, Uric Acid

Nephrolithiasis, Uric Acid, Susceptibility To

Uric Acid Urolithiasis

Uric Acid Nephrolithiasis

UAN

Acute Urate Nephropathy

Urolithiasis, Uric Acid

Urolithiasis, Uric Acid, Susceptibility To

Uric Acid Renal Calculus

Hyperuricemia

Blood Urate Raized

Uricacidemia

Gout

Gouty Arthritis

Articular Gout

Gouty Arthropathy

Arthritis, Gouty

Arthritis Gouty

Idiopathic Gout

Idiopathic Gout, Unspecified Site

Gouty Bursitis

Uratic Arthritis

Gout Nos

Gouty

Gouty Diathesis

Renal Artery Atheroma

Atherosclerosis Of Renal Artery

Renal Atherosclerosis

Atherosclerotic Renal Disease

Ras - [Renal Artery Stenosis]

Renal Arterial Arteriosclerosis

Renal Arterial Arteriosclerotic Disease

Renal Arterial Stricture

Renal Artery Stricture

Renal Artery Stenosis Of Unknown Cause

Renal Artery Stenosis Due To Atherosclerosis

Renal Artery Stenosis

Renal Artery Arteriosclerotic Disease

Renal Artery Arteriosclerosis

Tubulointerstitial Kidney Disease, Autosomal Dominant, 1

Familial Juvenile Hyperuricemic Nephropathy

Mckd2

Familial Juvenile Hyperuricemic Nephropathy Type 1

Fjhn

Medullary Cystic Kidney Disease 2

Uromodulin-Associated Kidney Disease

Medullary Cystic Kidney Disease Type 2

ADTKD1

Hnfj1

Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria

Adtkd-Umod

Familial Juvenile Hyperuricemic Nephropathy 1

Umod-Related Adtkd

Umod-Related Autosomal Dominant Tubulointerstitial Kidney Disease

Hyperuricemic Nephropathy, Familial Juvenile, 1

Gouty Nephropathy, Familial Juvenile

Medullary Cystic Kidney Disease 2, Autosomal Dominant

Admckd2

Autosomal Dominant Tubulointerstitial Kidney Disease Due To Umod Mutations

Adtkd Due To Umod Mutations

Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related

Autosomal Dominant Medullary Cystic Kidney Disease Type 2

Umod-Associated Kidney Disease

Uromodulin Kidney Disease

Familial Gout-Kidney Disease

Familial Gouty Nephropathy

Umak

Umod-Related Kidney Disease

Uromodulin Storage Disease

Fjhn1

Gouty Nephropathy Familial Juvenile

Nephropathy Familial With Gout

Hyperuricemic Nephropathy, Familial Juvenile 1

Hyperuricemic Nephropathy, Familial Juvenile

Kidney Disease, Glomerulocystic, With Hyperuricemia And Isosthenuria

Nephropathy, Hyperuricemic, Juvenile, Familial, Type 1

Kidney Disease, Cystic, Medullary, Type 2

Medullary Cystic Kidney Disease Type Ii

Familial Juvenile Gout

Xanthinuria

Xanthine Dehydrogenase Deficiency

Xanthine Oxidase Deficiency

Hereditary Xanthinuria

Xanthic Urolithiasis

Xanthine Stone Disease

Xanthinuria, Type I

Combined Deficiency Of Xanthine Dehydrogenase And Aldehyde Oxidase

Xdh Deficiency

Classic Xanthinuria

Xanthinuria, Type Ii

Classical Xanthinuria

Xanthine Calculus

Hyperuricemia, Hprt-Related

Hprt-Related Gout

Kelley-Seegmiller Syndrome

Hprt Deficiency, Partial

HRH

Gout, Hprt-Related

Hprt1 Deficiency, Partial

Hrpt-Related Hyperuricemia

Hprt Deficiency, Grade I

Hprt Partial Deficiency

Hprt-Related Hyperuricemia

Hprt1 Partial Deficiency

Hypoxanthine Guanine Phosphoribosyltransferase 1 Partial Deficiency

Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade I

Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency

Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial

Hyperuricemia, Hrpt-Related

Purine-Pyrimidine Metabolic Disorder

Inborn Errors Of Purine-Pyrimidine Metabolism

Disorder Of Purine Or Pyrimidine Metabolism

Lesch-Nyhan Syndrome

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

LNS

Hprt Deficiency

Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

Hypoxanthine Guanine Phosphoribosyltransferase Deficiency

X-Linked Hyperuricemia

Choreoathetosis Self-Mutilation Syndrome

Hprt1 Deficiency

Hprt Deficiency, Complete

Deficiency Of Imp Pyrophosphorylase

Hgprt Deficiency

Lesch-Nyhan Disease

Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency

Hg-Prt Deficiency

Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency

Lesch - Nyhan Syndrome

Hprt1 Disorders

Lesch Nyhan Syndrome

Complete Hprt Deficiency Complete

Lesch Nyhan Disease

Complete Hprt Deficiency

Deficiency Of Guanine Phosphoribosyltransferase

Deficiency Of Hypoxanthine Phosphoribosyltransferase

Hypoxanthine Phosphoribosyltransferase Deficiency

Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome

Juvenile Hyperuricemia Syndrome

Lnd

Primary Hyperuricemia Syndrome

Total Hprt Deficiency

Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency

X-Linked Primary Hyperuricemia

X-Linked Uric Aciduria Enzyme Defect

Hprt Complete Deficiency

Hprt Deficiency Grade Iv

Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency

Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv

Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency

Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency

Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency

Renal Artery Disease

Renal Vascular Disease

Vascular Disorder Of Kidney

Renal Vascular Disorder

Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Bos taurus SLC2A9 VGNC VGNC:34804
Rattus norvegicus SLC2A9 RGD RGD:1597012
Macaca mulatta SLC2A9 VGNC VGNC:77467
Canis familiaris SLC2A9 VGNC VGNC:46345
Mus musculus SLC2A9 MGD MGI:2152844
Felis catus SLC2A9 VGNC VGNC:65307
Others SLC2A9 NCBI