GNE - glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Gene

Homo sapiens

Also known as NM; DMRV; IBM2; Uae1; GLCNE

Gene ID: 10020 | Gene type: protein coding

About GNE

Cytogenetic location: 9p13.3 Genomic coordinates (GRCh38): 9:36,214,441-36,276,978 (from NCBI)

This gene has 6 transcripts (splice variants), 200 orthologues and is associated with 7 phenotypes. Broad expression in liver (RPKM 23.5), colon (RPKM 22.5) and 23 other tissues.

Summary

The protein encoded by this gene is a bifunctional Enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting Enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

GNE Products(7)

mRNA	Protein	Name
NM_001128227.3	NP_001121699.1	bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 1
NM_001190383.3	NP_001177312.1	bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 4
NM_001190384.3	NP_001177313.1	bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 5
NM_001190388.2	NP_001177317.2	bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 3
NM_001374797.1	NP_001361726.1	bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 6
NM_001374798.1	NP_001361727.1	bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 3
NM_005476.7	NP_005467.1	bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 2

GNE Protein Structure

Epimerase_2

ROK

0
200
400
600
722 a.a.

Protein Preferred Names

Protein Names

bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase

N-acylmannosamine kinase

Related Diseases

Diseases

Alias

Nonaka Myopathy

Gne Myopathy	Hibm
Distal Myopathy With Rimmed Vacuoles	Hereditary Inclusion Body Myopathy
Ibm2	Inclusion Body Myopathy, Quadriceps-Sparing
Qsm	Dmrv
Distal Myopathy, Nonaka Type	Inclusion Body Myopathy 2
Inclusion Body Myopathy, Autosomal Recessive	NM
Nonaka Distal Myopathy	Myopathy, Distal, With Or Without Rimmed Vacuoles
Inclusion Body Myopathy, Hereditary, Autosomal Recessive	Inclusion Body Myopathy Type 2
Quadriceps-Sparing Myopathy	Quadriceps Sparing Myopathy
Rimmed Vacuole Myopathy	Inclusion Body Myopathy 2, Autosomal Recessive, Formerly
Ibm2, Formerly	Hibm2
Hereditary Inclusion Body Myopathy Type 2	Inclusion Body Myopathy 2, Autosomal Recessive
Myopathy, Distal, With Rimmed Vacuoles	Inclusion Body Myopathy Autosomal Recessive
Myopathy, Inclusion Body, Type 2	Myopathy, Nonaka

Sialuria

Sialuria, French Type	French Type Sialuria
Sialuria French Type	Sialic Acid Storage Disease
Sialic Acid Storage Disease, Finnish Type	Infantile Sialic Acid Storage Disease

Inclusion Body Myositis

Ibm	Sporadic Inclusion Body Myositis
Inflammatory Myopathy	Myositis, Inclusion Body
Inflammatory Myopathies	Sibm
Myositis Inclusion Body	Nonaka Myopathy
Inclusion Body Myopathy, Autosomal Recessive	Inclusion Body Myopathy, Autosomal Dominant
Myositis	Inclusion Body Myopathy, Sporadic

Free Sialic Acid Storage Disorders

Free Sialic Acid Storage Disease	Sialic Acid Storage Disease
N-Acetylneuraminic Acid Storage Disease	Nana Storage Disease
Lysosomal Free Sialic Acid Storage Disorders	Sialuria, Finnish Type
Sialuria	Sialic Acid Storage Disease, Finnish Type

Bleeding Disorder, Platelet-Type, 19

Platelet-Type Bleeding Disorder 19	BDPLT19
Severe Autosomal Recessive Macrothrombocytopenia	Bleeding Disorder, Platelet Type 19

Miyoshi Muscular Dystrophy

Distal Myopathy	Distal Muscular Dystrophy
Miyoshi Myopathy	Distal Myopathies
Dystrophy, Muscular, Miyoshi	Myopathy, Distal
Distal Muscular Dystrophies

Myopathy

Muscular Diseases

Myopathies

Thrombocytopenia

Low Platelet Count	Low Platelets
Decreased Platelets	Platelet Dysfunction Nos

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

Myositis

Idiopathic Inflammatory Myopathy	Idiopathic Inflammatory Myositis
Iim	Imm
Idiopathic Inflammatory Myopathies	Myopathy, Familial Idiopathic Inflammatory
Inflammatory Disorder Of Muscle	Idiopathic Inflammatory Myopathy, Familial
Inflammatory Myopathy, Idiopathic	Myopathies Idiopathic Inflammatory
Familial Idiopathic Inflammatory Myopathy

Muscular Dystrophy

Muscular Dystrophies	Congenital Md
Congenital Muscular Dystrophy	Cmd
Mdc	Dystrophy, Muscular
Gower'S Muscular Dystrophy	Progressive Musclular Dystrophy
Pseudohypertrophic Atrophy	Pseudohypertrophic Muscle Paralysis
Pseudohypertrophic Muscular Atrophy	Pseudohypertrophic Muscular Dystrophy
Pseudohypertrophic Paralysis	Pseudomuscular Hypertrophy

Limb-Girdle Muscular Dystrophy

Lgmd	Limb Girdle Muscular Dystrophy
Muscular Dystrophies, Limb-Girdle	Erb'S Muscular Dystrophy
Leyden-Mbius Muscular Dystrophy	Limb-Girdle Syndrome
Myopathic Limb-Girdle Syndrome	Limb Girdle
Muscular Dystrophy Limb-Girdle	Dystrophy, Muscular, Limb-Girdle
Lgmd - [Limb-Girdle Muscular Dystrophy]	Limb Girdle Muscle Dystrophy
Limb-Girdle Myopathy

Congenital Disorder Of Glycosylation, Type Iif

CDG2F	Congenital Disorder Of Glycosylation Type Iif
Cdg Iif	Cdgiif
Carbohydrate Deficient Glycoprotein Syndrome Type Iif	Cmp-Sialic Acid Transporter Deficiency
Slc35a1-Cdg	Cdg-Iif
Cdgiidf	Cdg Syndrome Type Iif
Congenital Disorder Of Glycosylation Type 2f	Congenital Disorder Of Glycosylation 2f
Glycosylation, Congenital Disorder Of, Type Iif

Tibial Muscular Dystrophy

Tmd	Udd Myopathy
Distal Titinopathy	Finnish Tibial Muscular Dystrophy
Tardive Tibial Muscular Dystrophy	Udd Type Distal Myopathy
Udd Distal Myopathy	Udd-Markesbery Muscular Dystrophy
Distal Myopathy, Udd Type	Distal Myopathies
Tibial Muscular Dystrophy, Tardive

Myopathy, Myofibrillar, 4

Myofibrillar Myopathy 4	MFM4
Zaspopathy	Myopathy, Myofibrillar, Zasp-Related

Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone With Or Without Frontotemporal Dementia 2

Ibmpfd2	Msp2
Multisystem Proteinopathy 2

Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia

Ibmpfd	Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia
Pagetoid Amyotrophic Lateral Sclerosis	Pagetoid Neuroskeletal Syndrome
Inclusion Body Myopathy With Paget Disease Of Bone And/Or Frontotemporal Dementia	Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone And/Or Frontotemporal Dementia
Multisystem Proteinopathy	Limb-Girdle Muscular Dystrophy With Paget Disease Of Bone
Inclusion Body Myopathy With Paget'S Disease Of Bone And Frontotemporal Dementia	Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dement
Lower Motor Neuron Degeneration With Paget-Like Bone Disease	Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone
Myopathy, Inclusion Body, With Early-Onset Paget Disease And Frontotemporal Dementia

Muscle Tissue Disease

Myofibrillar Myopathy

Desmin Related Myopathy	Myotilinopathy
Myopathy, Myofibrillar	Alpha Beta Crystallinopathy
Desmin Storage Myopathy	Desminopathy
Filaminopathy	Protein Surplus Myopathy
Zaspopathy	Myofibrillar Myopathies
Myopathy, Myofibrillar, Desmin-Related	Myopathy, Desmin Storage
Mfm - [Myofibrillar Myopathy]

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2	CMT2E
CMT2S	CMT2Y
Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Disease Type 2y
Charcot-Marie-Tooth Disease Axonal Type 2s	Charcot-Marie-Tooth Disease, Axonal, Type 2s
Charcot-Marie-Tooth Disease, Type 2e	Hereditary Motor And Sensory Neuropathy Type 2
Charcot-Marie-Tooth Neuropathy, Type 2s	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
Charcot-Marie-Tooth Disease, Axonal, Type 2y	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
Charcot-Marie-Tooth Neuropathy, Type 2y	Charcot-Marie-Tooth Disease, Type 2y
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Neuropathy Type 2e
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation	Cmt2 Due To Vcp Mutation
Charcot-Marie-Tooth Disease Type 2s	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease	Cmt2
Charcot-Marie-Tooth Neuropathy, Type 2e	Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
Hereditary Motor And Sensory Neuropathy Okinawa Type	Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
Charcot-Marie-Tooth Neuropathy Type 2y	Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
Charcot-Marie-Tooth Neuropathy Type 2s	Charcot-Marie-Tooth Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y	Charcot-Marie-Tooth Disease 2e
Charcot-Marie-Tooth Disease Axonal Type 2e	Charcot-Marie-Tooth Disease Neuronal Type 2e
Charcot-Marie-Tooth Disease 2s	Charcot-Marie-Tooth Neuropathy Axonal Type 2s
Charcot-Marie-Tooth Disease 2y	Charcot-Marie-Tooth Disease, Type 2
Hereditary Motor And Sensory-Neuropathy Type Ii

Muscular Disease

Isolated Elevated Serum Creatine Phosphokinase Levels

Elevated Serum Cpk	Idiopathic Hyperckemia
Isolated Hyperckemia	Elevated Serum Creatine Phosphokinase
H-Ck	Idiopathic Persistent Elevation Of Serum Creatine Kinase

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation	CDG1N
Congenital Disorders Of Glycosylation	Cdg In
Cdgin	Congenital Disorder Of Glycosylation 1n
Carbohydrate-Deficient Glycoprotein Syndrome	Cdg
Rft1-Cdg	Cdg-In
Congenital Disorder Of Glycosylation Type In	Carbohydrate Deficient Glycoprotein Syndrome
Cdg Syndrome	Congenital Disorder Of Glycosylation In
Carbohydrate-Deficient Glycoprotein Syndromes	Cdg Syndrome Type In
Carbohydrate Deficient Glycoprotein Syndrome Type In	Congenital Disorder Of Glycosylation Type 1n
Man5glcnac2-Pp-Dol Flippase Deficiency	Glycosylation, Congenital Disorder Of
Glycosylation, Congenital Disorder Of, Type In

Walker-Warburg Syndrome

Hard Syndrome	Walker-Warburg Congenital Muscular Dystrophy
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome	Cod-Md Syndrome
Chemke Syndrome	Hydrocephalus, Agyria And Retinal Dysplasia
Cerebroocular Dysgenesis	Cerebroocular Dysplasia Muscular Dystrophy Syndrome
Hard +/- E Syndrome	Pagon Syndrome
Warburg Syndrome	Hydrocephalus, Agyria, And Retinal Dysplasia
Mddga	Muscular Dystrophy-Dystroglycanopathy , Type A
Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A	Hydrocephalus-Agyria-Retinal Dysplasia Syndrome
Wws	Dystrophy, Muscular, Dystroglycanopathy, Type A

Diseases	Alias
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

Related Agents

Clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Phase
HY-13246	Apitolisib		99.65%	Phase 2
HY-128850	N-Acetyl-D-mannosamine	Inhibitor	99.89%	Phase 2

Pre-clinical Phase

Bioactive Molecules (68)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-100742A	(R)-GNE-140	Inhibitor	98.01%	Unkown
HY-147214	GNE-7883	Inhibitor	98.49%	Unkown
HY-108696	GNE-781	Inhibitor	98.21%	Unkown
HY-100343	GNE-495	Inhibitor	99.40%	Unkown
HY-107986	GNE-6776	Inhibitor	98.01%	Unkown
HY-15796	GNE0877	Inhibitor	99.15%	Unkown
HY-12947	GNE-3511	Inhibitor	99.85%	Unkown
HY-108435	GNE-049	Inhibitor	98.00%	Unkown
HY-112937	GNE-6640	Inhibitor	99.81%	Unkown
HY-15766	GNE-617	Inhibitor	99.69%	Unkown
HY-135892	GNE-1858	Inhibitor	99.42%	Unkown
HY-12632	GNE 2861	Inhibitor	99.20%	Unkown
HY-18163	GNE-7915	Inhibitor	99.82%	Unkown
HY-100742	GNE-140 racemate	Inhibitor	99.38%	Unkown
HY-129939	PROTAC BRD4 ligand-1	Inhibitor	99.85%	Unkown
HY-100726	GNE-272		99.76%	Unkown
HY-129937A	GNE-987	Inhibitor	99.91%	Unkown
HY-120028	GNE-207	Inhibitor	97.02%	Unkown
HY-149026	GNE-064	Inhibitor	99.75%	Unkown
HY-12763	GNE-317	Inhibitor	99.14%	Unkown
HY-12628	GNE-618	Inhibitor	99.89%	Unkown
HY-123621	GNE-375	Inhibitor	99.81%	Unkown
HY-12282	GNE-9605	Inhibitor	99.72%	Unkown
HY-U00428A	GNE 220 hydrochloride	Inhibitor	98.22%	Unkown
HY-107409	GNE 5729	Agonist	99.50%	Unkown
HY-145341	GNE-149	Antagonist	99.66%	Unkown
HY-154984	JET-209	Degrader	98.07%	Unkown
HY-112803	GNE-371		98.21%	Unkown
HY-133736	PROTAC BRD4 Degrader-5-CO-PEG3-N3		99.73%	Unkown
HY-142160	GNE-9815	Inhibitor	98.28%	Unkown
HY-19775	GNE-6468	Antagonist	98.04%	Unkown
HY-15766A	GNE-617 hydrochloride	Inhibitor	99.28%	Unkown
HY-129938	PROTAC BRD4 Degrader-24		99.61%	Unkown
HY-141551	GNE-274	Agonist	98.93%	Unkown
HY-15883	GNE-900		99.21%	Unkown
HY-19774	GNE-0946	Inhibitor	98.09%	Unkown
HY-10811	GNE-493	Inhibitor	98.33%	Unkown
HY-11042	GNE-477	Inhibitor	98.70%	Unkown
HY-108337	GNE-0723	Agonist	98.74%	Unkown
HY-123824	GNE-0439	Inhibitor	99.80%	Unkown
HY-18163A	GNE-7915 tosylate	Inhibitor	99.69%	Unkown
HY-114332	GNE-8505	Inhibitor	99.86%	Unkown
HY-12410	GNE-9822	Inhibitor	≥95.0%	Unkown
HY-129527	GNE-9278	Modulator	99.91%	Unkown
HY-150289	GNE-235		98.45%	Unkown
HY-10812	GNE-490	Inhibitor	96.29%	Unkown
HY-112279	GNE-131	Inhibitor	98.97%	Unkown
HY-100742B	(S)-GNE-140	Inhibitor	99.07%	Unkown
HY-149056	GNE-6893	Inhibitor	99.94%	Unkown
HY-U00428	GNE 220	Inhibitor	/	Unkown
HY-126291	GNE-616	Inhibitor	/	Unkown
HY-129937	(S)-GNE-987	Inhibitor	/	Unkown
HY-132294	GNE-502	Inhibitor	99.73%	Unkown
HY-101783	GNE-955	Inhibitor	/	Unkown
HY-128585	GNE684	Inhibitor	/	Unkown
HY-134592	Piperidine-GNE-049-N-Boc		98.82%	Unkown
HY-107409B	(S,S)-GNE 5729		99.65%	Unkown
HY-107423	GNE 6901	Agonist	/	Unkown
HY-107498	GNE-8324	Modulator	/	Unkown
HY-117865	GNE-886	Inhibitor	/	Unkown
HY-132294A	(1S,3R)-GNE-502	Inhibitor	/	Unkown
HY-13847	GNE-555	Inhibitor	/	Unkown
HY-141551B	(R)-GNE-274		/	Unkown
HY-148238	GNE-2256	Inhibitor	/	Unkown
HY-158113	CBPD-409	Degrader	/	Unkown
HY-16984	GNE-4997	Inhibitor	/	Unkown
HY-RS05551	GNE Human Pre-designed siRNA Set A		/	Unkown
HY-12517	GNE-293	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	GNE	VGNC	VGNC:102936
Mus musculus	GNE	MGD	MGI:1354951
Bos taurus	GNE	VGNC	VGNC:56970
Rattus norvegicus	GNE	RGD	RGD:69239
Canis familiaris	GNE	VGNC	VGNC:51721
Macaca mulatta	GNE	VGNC	VGNC:103269
Others	GNE	NCBI

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