1. Gene
  2. POMK - protein O-mannose kinase Gene

POMK - protein O-mannose kinase Gene

Homo sapiens

Also known as SGK196; MDDGA12; MDDGC12

Gene ID: 84197 | Gene type: protein coding

About POMK

Cytogenetic location: 8p11.21 Genomic coordinates (GRCh38): 8:43,093,515-43,123,434 (from NCBI)

This gene has 20 transcripts (splice variants), 203 orthologues and is associated with 6 phenotypes. Ubiquitous expression in brain (RPKM 2.1), testis (RPKM 1.7) and 25 other tissues.

Summary

This gene encodes a protein that may be involved in the presentation of the laminin-binding O-linked carbohydrate chain of alpha-dystroglycan (a-DG), which forms transmembrane linkages between the extracellular matrix and the exoskeleton. Some pathogens use this O-linked carbohydrate unit for host entry. Loss of function compound heterozygous mutations in this gene were found in a human patient affected by the Walker-Warburg syndrome (WWS) phenotype. Mice lacking this gene contain misplaced neurons (heterotopia) in some regions of the brain, possibly from defects in neuronal migration. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]

POMK Products(2)

mRNA Protein Name
NM_001277971.2 NP_001264900.1 protein O-mannose kinase
NM_032237.5 NP_115613.1 protein O-mannose kinase

POMK Protein Structure

Pkinase_Tyr

Pkinase_Tyr: Protein tyrosine kinase (83 - 194)

  • 0
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  • 300
  • 350 a.a.
Protein Preferred Names Protein Names

protein O-mannose kinase

Sugen kinase 196

Related Diseases

Diseases Alias
Muscular Dystrophy-Dystroglycanopathy , Type C, 12

Limb-Girdle Muscular Dystrophy Due To Pomk Deficiency

MDDGC12

Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomk-Related

Lgmd Due To Pomk Deficiency

Muscular Dystrophy-Dystroglycanopathy Type C12

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C12

Dystrophy, Muscular, Dystroglycanopathy , Type C12

Muscular Dystrophy-Dystroglycanopathy , Type A, 12

MDDGA12

Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomk-Related

Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A12

Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease Pomk-Related

Congenital Muscular Dystrophy With Cerebellar Involvement

Cmd With Cerebellar Involvement

Cmd-Crb

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

Congenital Muscular Dystrophy-Dystroglycanopathy Type A12

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A12

Mddga12

Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease Pomk-Related

Congenital Muscular Dystrophy-Dystroglycanopathy Type A1

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A1

Mddga1

Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt1-Related

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

Cardiomyopathy, Dilated, 1g

Dilated Cardiomyopathy 1g

CMD1G

Cardiomyopathy, Dilated 1g

Cardiomyopathy, Dilated, Type 1g

Congenital Muscular Dystrophy-Dystroglycanopathy Type A

Congenital Muscular Alpha-Dystroglycanopathy With Brain And Eye Anomalies

Mddga

Klissencephaly Type 2 With Muscular And Ocular Involvement

Lissencephaly Type 2 With Muscular And Ocular Involvement

Muscular Dystrophy-Dystroglycanopathy

Cmd Due To Dystroglycanopathy

Congenital Muscular Dystrophy Due To Dystroglycanopathy

Mddg

Dystrophy, Muscular, Dystroglycanopathy

Muscular Dystrophy-Dystroglycanopathy , Type B, 1

MDDGB1

Muscular Dystrophy-Dystroglycanopathy , Type B1

Muscular Dystrophy, Congenital, Pomt1-Related

Muscular Dystrophy-Dystroglycanopathy Type B1

Cmd Due To Dystroglycanopathy

Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B1

Muscular Dystrophy Congenital Pomt1-Related

Muscular Dystrophy-Dystroglycanopathy

Dystrophy, Muscular, Dystroglycanopathy , Type B1

Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Mdc1c

Muscular Dystrophy-Dystroglycanopathy Type B5

MDDGB5

Muscular Dystrophy, Congenital, 1c

Muscular Dystrophy, Congenital, Fkrp-Related

Congenital Muscular Dystrophy 1c

Fkrp-Related Congenital Muscular Dystrophy

Muscular Dystrophy-Dystroglycanopathy Congenital With Or Without Impaired Intellectual Development B5

Muscular Dystrophy Congenital Type 1c

Muscular Dystrophy Fkrp-Related

Cobblestone Lissencephaly

Lissencephaly Type 2

Lissencephaly, Cobblestone

Muscular Dystrophy, Congenital, 1b

MDC1B

Congenital Muscular Dystrophy 1b

Cmd1b

Congenital Muscular Dystrophy Type 1b

Familial Dilated Cardiomyopathy

Muscular Dystrophy, Congenital, Lmna-Related

Congenital Muscular Dystrophy

Congenital Muscular Dystrophy Due To Lmna Mutation

MDCL

L-Cmd

Lmna-Related Congenital Muscular Dystrophy

Muscular Dystrophy, Congenital

Congenital Muscular Dystrophy Lmna-Related

Lmna-Related Cmd

Cmd

Mdc

Muscular Dystrophy Congenital Lmna-Related

Dystrophy, Muscular, Congenital, Lmna-Related

Dystrophy, Muscular, Congenital

Hereditary Muscular Dystrophy

Congenital Hereditary Muscular Dystrophy

Congenital Progressive Muscular Dystrophy

Hereditary Progressive Muscular Dystrophy

Muscle Eye Brain Disease

Muscle-Eye-Brain Disease

Muscle-Eye-Brain Syndrome

Meb

Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A3

Meb Syndrome

Santavuori Congenital Muscular Dystrophy

Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A3

Mddga3

Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomgnt1-Related

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A3

Cardiomyopathy, Dilated, 1kk

Cardiomyopathy, Familial Restrictive, 4

Dilated Cardiomyopathy 1kk

CMD1KK

Cardiomyopathy, Hypertrophic, 22

Cardiomyopathy, Dilated 1kk

Cardiomyopathy, Familial Hypertrophic 22

CMH22

Cardiomyopathy, Familial Restrictive 4

RCM4

Familial Hypertrophic Cardiomyopathy 22

Cardiomyopathy, Dilated, Type 1kk

Cardiomyopathy, Familial Hypertrophic, 22

Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria

Muscular Dystrophy-Dystroglycanopathy , Type A, 4

Fukuyama Congenital Muscular Dystrophy

Fcmd

MDDGA4

Fukuyama Type Congenital Muscular Dystrophy

Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fktn-Related

Cerebromuscular Dystrophy, Fukuyama Type

Fukuyama Cmd

Fukuyama Muscular Dystrophy

Fukuyama Syndrome

Muscular Dystrophy, Congenital Progressive, With Mental Retardation

Muscular Dystrophy, Congenital, Fukuyama Type

Muscular Dystrophy, Congenital, With Central Nervous System Involvement

Polymicrogyria With Muscular Dystrophy

Congenital Muscular Dystrophy, Fukuyama Type

Fktn-Related Congenital Muscular Dystrophy

Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A4

Cerebromuscular Dystrophy Fukuyama Type

Congenital Muscular Dystrophy Fukuyama Type

Micropolygyria With Muscular Dystrophy

Muscle-Eye-Brain Disease Fktn-Related

Walker-Warburg Syndrome Fktn-Related

Nemaline Myopathy 11, Autosomal Recessive

NEM11

Nemaline Myopathy 11

Cardiomyopathy, Familial Hypertrophic, 9

Hypertrophic Cardiomyopathy 9

CMH9

Cardiomyopathy, Familial Hypertrophic 9

Cardiomyopathy, Hypertrophic, Familial, Type 9

Muscular Dystrophy-Dystroglycanopathy , Type C, 5

Lgmd2i

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i

MDDGC5

Limb-Girdle Muscular Dystrophy Due To Fkrp Deficiency

Limb-Girdle Muscular Dystrophy Type 2i

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9

Lgmdr9

Muscular Dystrophy, Limb-Girdle, Type 2i

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related

Fkrp-Related Limb-Girdle Muscular Dystrophy R9

Fkrp-Related Lgmd R9

Lgmd Due To Fkrp Deficiency

Lgmd Type 2i

Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related

Muscular Dystrophy Limb-Girdle Type 2i

Muscular Dystrophy-Dystroglycanopathy Type C 5

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5

Dystrophy, Muscular, Limb-Girdle, Type 2i

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Lgmd2b

Muscular Dystrophy, Limb-Girdle, Type 2b

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

Beta-Sarcoglycanopathy

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y

Muscular Dystrophy, Limb-Girdle, Type 3

Lgmd3

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s

LGMDR2

Muscular Dystrophy, Limb-Girdle, Type 2s

Limb-Girdle Muscular Dystrophy Type 2b

Lgmd2e

Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency

Muscular Dystrophy, Limb-Girdle, Type 2e

Lgmd2s

Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency

Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency

Lgmd2y

Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine

Muscular Dystrophy, Limb-Girdle, Type 2y

Dysferlin-Related Limb-Girdle Muscular Dystrophy R2

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Dysferlin-Related Lgmd R2

Lgmd Due To Dysferlin Deficiency

Lgmd Type 2b

Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency

Limb-Girdle Muscular Dystrophy 2b

Limb-Girdle Muscular Dystrophy, Type 2b

Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2

Dystrophy, Muscular, Limb-Girdle, Type 2b

Limb-Girdle Muscular Dystrophy, Type 2e

Muscular Dystrophy-Dystroglycanopathy , Type C, 3

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2o

MDDGC3

Lgmd2o

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 15

Lgmdr15

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomgnt1-Related

Muscular Dystrophy, Limb-Girdle, Type 2o

Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomgnt1-Related

Muscular Dystrophy-Dystroglycanopathy Type C3

Pomgnt1-Related Limb-Girdle Muscular Dystrophy R15

Lgmd Type 2o

Limb-Girdle Muscular Dystrophy Type 2o

Pomgnt1-Related Lgmd R15

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C3

Dystrophy, Muscular, Limb-Girdle, Type 2o

Hydrocephalus

Hydrocephalus, Nonsyndromic, Autosomal Recessive

Hydrocephalus, X-Linked

Hydrocephalus Adverse Event

Hydrocephaly Nos

Brown-Vialetto-Van Laere Syndrome 2

BVVLS2

Rfvt3-Related Riboflavin Transporter Deficiency

Rtd3

Riboflavin Transporter Deficiency 3

Brown-Vialetto-Van Laere Syndrome, Type 2

Autosomal Recessive Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy

Familial Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy 1

CMH1

Hypertrophic Cardiomyopathy 19

CMH

Ventricular Hypertrophy, Hereditary

Ash

Hypertrophic Subaortic Stenosis, Idiopathic

Cardiomyopathy, Familial Hypertrophic

Cardiomyopathy, Hypertrophic, 1, Digenic

Cardiomyopathy, Familial Hypertrophic 1

Hcm

Hereditary Ventricular Hypertrophy

Idiopathic Hypertrophic Subaortic Stenosis

Hypertrophic Cardiomyopathy

Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, 1

Familial Asymmetric Septal Hypertrophy

Heritable Hypertrophic Cardiomyopathy

Fhc

Cardiomyopathy, Hypertrophic, Familial, Type 1

Rippling Muscle Disease 2

Rippling Muscle Disease

Rmd

Lgmd1c

RMD2

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c

Muscular Dystrophy, Limb-Girdle, Type 1c

Muscular Dystrophy, Limb-Girdle, Type 1c, Formerly

Lgmd1c, Formerly

Limb-Girdle Muscular Dystrophy Type 1c

Limb-Girdle Muscular Dystrophy Due To Caveolin-3 Deficiency

Muscular Dystrophy, Limb-Girdle, Type Ic

Rippling Muscle Syndrome

Limb-Girdle Muscular Dystrophy 1c

Dystrophy, Muscular, Limb-Girdle, Type 1c

Disease, Muscle, Rippling, Type 2

Rippling Muscle Disease 1

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 Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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
Bos taurus POMK VGNC VGNC:33156
Mus musculus POMK MGD MGI:1921903
Rattus norvegicus POMK RGD RGD:1310810
Felis catus POMK VGNC VGNC:107416
Canis familiaris POMK VGNC VGNC:44809
Macaca mulatta POMK VGNC VGNC:76115
Others POMK NCBI