POMT2

Protein identityUniProt · HPA

UniProt accession

Q9UKY4

Gene

POMT2

Ensembl

ENSG00000009830

Chromosome

14

Canonical length

750 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Nucleoplasm,Nucleoli,Cytosol

OverviewNCBI Gene

The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT1 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS).[provided by RefSeq, Oct 2008]

Canonical amino-acid sequenceUniProt

750 residues, UniProt reviewed canonical sequence.

>Q9UKY4|POMT2
     1  MPPATGGGLA ESELRPRRGR CGPQAARAAG RDVAAEAVAR SPKRPAWGSR RFEAVGWWAL
    61  LALVTLLSFA TRFHRLDEPP HICWDETHFG KMGSYYINRT FFFDVHPPLG KMLIGLAGYL
   121  SGYDGTFLFQ KPGDKYEHHS YMGMRGFCAF LGSWLVPFAY LTVLDLSKSL SAALLTAALL
   181  TFDTGCLTLS QYILLDPILM FFIMAAMLSM VKYNSCADRP FSAPWWFWLS LTGVSLAGAL
   241  GVKFVGLFII LQVGLNTIAD LWYLFGDLSL SLVTVGKHLT ARVLCLIVLP LALYTATFAV
   301  HFMVLSKSGP GDGFFSSAFQ ARLSGNNLHN ASIPEHLAYG SVITVKNLRM AIGYLHSHRH
   361  LYPEGIGARQ QQVTTYLHKD YNNLWIIKKH NTNSDPLDPS FPVEFVRHGD IIRLEHKETS
   421  RNLHSHYHEA PMTRKHYQVT GYGINGTGDS NDFWRIEVVN RKFGNRIKVL RSRIRFIHLV
   481  TGCVLGSSGK VLPKWGWEQL EVTCTPYLKE TLNSIWNVED HINPKLPNIS LDVLQPSFPE
   541  ILLESHMVMI RGNSGLKPKD NEFTSKPWHW PINYQGLRFS GVNDTDFRVY LLGNPVVWWL
   601  NLLSIALYLL SGSIIAVAMQ RGARLPAEVA GLSQVLLRGG GQVLLGWTLH YFPFFLMGRV
   661  LYFHHYFPAM LFSSMLTGIL WDTLLRLCAW GLASWPLARG IHVAGILSLL LGTAYSFYLF
   721  HPLAYGMVGP LAQDPQSPMA GLRWLDSWDF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against POMT2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

10

Mean surface accessibility (rSASA)

0.26

Highest tissue expression

11 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about POMT2.

Disease | AllUniProt

Conditions POMT2 is implicated in, by any mechanism.

• Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2) MIM:613150
• Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2 (MDDGB2) MIM:613156
• Muscular dystrophy-dystroglycanopathy limb-girdle C2 (MDDGC2) MIM:613158

Disease | GeneticClinVar

153 pathogenic / likely-pathogenic of 1,340 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
• Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
• Autosomal recessive limb-girdle muscular dystrophy type 2N
• Autosomal recessive limb-girdle muscular dystrophy
• POMT2-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.8

gnomAD pLI

0

gnomAD missense Z

0.08

DepMap mean gene effect

-0.05

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• basement membrane organization
• dentate gyrus development
• protein O-linked glycosylation via mannose
• reactive gliosis

Molecular functions

• dolichyl-phosphate-mannose-protein mannosyltransferase activity
• mannosyltransferase activity
• metal ion binding

Cellular components

• cytosol
• endoplasmic reticulum
• endoplasmic reticulum membrane
• nucleolus
• nucleoplasm

Protein domainsUniProt · Pfam · InterPro

• ArnT-like, N-terminal domain
• MIR motif
• O-mannosyl-transferase-like
• Protein O-mannosyl-transferase, C-terminal four TM domain
• Mir domain superfamily
• Dolichyl-phosphate-mannose-protein mannosyltransferase
• MIR domain
• C-terminal four TMM region of protein-O-mannosyltransferase

KeywordsUniProt

• Congenital muscular dystrophy
• Dystroglycanopathy
• Endoplasmic reticulum
• Glycoprotein
• Glycosyltransferase
• Limb-girdle muscular dystrophy
• Lissencephaly
• Membrane
• Metal-binding
• Phosphoprotein
• Repeat
• Transferase
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of POMT2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• POMT1