POMK - protein O-mannose kinase Gene

Also Known as SGK196; MDDGA12; MDDGC12

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84197

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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Verweise	Source
enables phosphotransferase activity, alcohol group as acceptor	IDA IDA: Inferred from direct assay	23929950	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in carbohydrate phosphorylation	IDA IDA: Inferred from direct assay	23929950	GOA
involved in protein O-linked glycosylation	IDA IDA: Inferred from direct assay	23929950	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

POMK Protein Structure

Pkinase_Tyr

0
100
200
300
350 a.a.

Protein Preferred Names	Protein Names
protein O-mannose kinase	Sugen kinase 196

POMK Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	POMK	Q9H5K3	RPN1	Homo sapiens	P04843	Pull Down	32707033
Intra	POMK	Q9H5K3	POMGNT1	Homo sapiens	Q8WZA1	Pull Down	32707033
Intra	POMK	Q9H5K3	B3GAT3	Homo sapiens	O94766	Pull Down	32707033
Intra	POMK	Q9H5K3	STT3A	Homo sapiens	P46977	Pull Down	32707033
Intra	POMK	Q9H5K3	RPN2	Homo sapiens	P04844	Anti Tag CoIP	32707033
Intra	POMK	Q9H5K3	RPN2	Homo sapiens	P04844	Pull Down	32707033
Intra	POMK	Q9H5K3	IER3IP1	Homo sapiens	Q9Y5U9	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS10868	POMK Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17892	Pomk Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24361	Pomk Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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