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

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10020

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
Molecular Function GO Annotation Evidence References Source
enables N-acylmannosamine kinase activity IMP
IMP: Inferred from mutant phenotype
14707127 GOA
enables UDP-N-acetylglucosamine 2-epimerase activity IDA
IDA: Inferred from direct assay
2808337 GOA
enables UDP-N-acetylglucosamine 2-epimerase activity IMP
IMP: Inferred from mutant phenotype
14707127 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
18560563 GOA
Biological Process GO Annotation Evidence References Source
involved in CMP-N-acetylneuraminate biosynthetic process IMP
IMP: Inferred from mutant phenotype
31121216 GOA
involved in N-acetylneuraminate biosynthetic process IMP
IMP: Inferred from mutant phenotype
14707127 GOA
involved in glycosylation IMP
IMP: Inferred from mutant phenotype
31121216 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GNE Protein Structure

Epimerase_2

Epimerase_2: UDP-N-acetylglucosamine 2-epimerase (38 - 375)

ROK

ROK: ROK family (411 - 596)

  • 0
  • 200
  • 400
  • 600
  • 722 a.a.
Protein Preferred Names Protein Names

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

  • N-acylmannosamine kinase

GNE Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
GNE Q9Y223 KRTAP10-8 Homo sapiens P60410 25416956
Intra
GNE Q9Y223 KRTAP10-8 Homo sapiens P60410 25416956
Intra
GNE Q9Y223 KRTAP10-8 Homo sapiens P60410 25416956
Intra
GNE Q9Y223 KRTAP10-9 Homo sapiens P60411 25416956
Intra
GNE Q9Y223 KRTAP10-9 Homo sapiens P60411 25416956
Intra
GNE Q9Y223 KRTAP10-7 Homo sapiens P60409 25416956
Intra
GNE Q9Y223 ADAMTSL4 Homo sapiens Q6UY14-3 25416956
Intra
GNE Q9Y223 KRTAP9-2 Homo sapiens Q9BYQ4 25416956
Intra
GNE Q9Y223 KRTAP9-2 Homo sapiens Q9BYQ4 25416956
Intra
GNE Q9Y223 KRTAP9-2 Homo sapiens Q9BYQ4 25416956
Intra
GNE Q9Y223 ACTN1 Homo sapiens P12814 18560563
Intra
GNE Q9Y223 ACTN1 Homo sapiens P12814 18560563
Intra
GNE Q9Y223 ACTN1 Homo sapiens P12814
SPR
18560563
Intra
GNE Q9Y223 KRTAP5-9 Homo sapiens P26371 25416956
Intra
GNE Q9Y223 KRTAP5-9 Homo sapiens P26371 25416956
Intra
GNE Q9Y223 KRTAP5-9 Homo sapiens P26371 25416956
Intra
GNE Q9Y223 KRTAP4-12 Homo sapiens Q9BQ66 25416956
Intra
GNE Q9Y223 GTPBP3 Homo sapiens Q969Y2 25416956
Intra
GNE Q9Y223 GTPBP3 Homo sapiens Q969Y2 25416956
Intra
GNE Q9Y223 SPRY2 Homo sapiens O43597 25416956
Intra
GNE Q9Y223 NOTCH2NLA Homo sapiens Q7Z3S9 31515488
Intra
GNE Q9Y223 NOTCH2NLA Homo sapiens Q7Z3S9 25416956
Intra
GNE Q9Y223 KRT31 Homo sapiens Q15323 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

GNE Antibodies

Cat. No. Product Name Application Reactivity
HY-P83172 GNE Antibody (YA2917) WB, IP Human
HY-P83172A GNE Antibody (YA2917)(PBS only) WB, IP Human

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

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