Pomt2 MGI Mouse Gene Detail - MGI:2444430 - protein-O-mannosyltransferase 2

Symbol

Pomt2
Name

protein-O-mannosyltransferase 2
Synonyms

A830009D15Rik

Feature Type

protein coding gene
IDs

MGI:2444430
NCBI Gene: 217734
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr12:87153635-87194742 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 41.30 cM
Mapping Data

2 experiments

SNPs within 2kb

888 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2444430	protein coding gene	Chr12:87153635-87194742 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0019978	protein coding gene	Chr12:87998577-88043238 (-)
A/J	MGP_AJ_G0019936	protein coding gene	Chr12:84654202-84695727 (-)
AKR/J	MGP_AKRJ_G0019911	protein coding gene	Chr12:86949919-86992670 (-)
BALB/cJ	MGP_BALBcJ_G0019915	protein coding gene	Chr12:84987028-85028610 (-)
C3H/HeJ	MGP_C3HHeJ_G0019721	protein coding gene	Chr12:87436845-87481475 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0020367	protein coding gene	Chr12:90532018-90573270 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017985	protein coding gene	Chr12:81539349-81580471 (-)
CAST/EiJ	MGP_CASTEiJ_G0019271	protein coding gene	Chr12:82460246-82506738 (-)
CBA/J	MGP_CBAJ_G0019693	protein coding gene	Chr12:94016600-94059080 (-)
DBA/2J	MGP_DBA2J_G0019806	protein coding gene	Chr12:84141855-84184327 (-)
FVB/NJ	MGP_FVBNJ_G0019793	protein coding gene	Chr12:83138692-83178678 (-)
LP/J	MGP_LPJ_G0019880	protein coding gene	Chr12:87876286-87919163 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019832	protein coding gene	Chr12:96759183-96804531 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020399	protein coding gene	Chr12:86578878-86620256 (-)
PWK/PhJ	MGP_PWKPhJ_G0019035	protein coding gene	Chr12:78700335-78742825 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0018830	protein coding gene	Chr12:81069662-81114419 (-)
WSB/EiJ	MGP_WSBEiJ_G0019324	protein coding gene	Chr12:87350920-87396354 (-)

Human Ortholog

POMT2, protein O-mannosyltransferase 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

POMT2, protein O-mannosyltransferase 2
Synonyms

LGMD2N, LGMDR14, MDDGA2, MDDGB2, MDDGC2
Links

HGNC:19743

NCBI Gene ID: 29954

neXtProt AC: NX_Q9UKY4

UniProt: Q9UKY4
Chr Location

14q24.3; chr14:77274956-77320883 (-) GRCh38

MGI Vertebrate Homology

Pomt2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: POMT2
Gene Tree

Pomt2

Diseases

7 with human POMT2 associations

				Human Disease	Mouse Models
				autosomal recessive limb-girdle muscular dystrophy IDs autosomal recessive limb-girdle muscular dystrophy DOID:0110274 ICD10CM:G71.0 OMIM:PS253600 ORDO:102015
				autosomal recessive limb-girdle muscular dystrophy type 2N IDs autosomal recessive limb-girdle muscular dystrophy type 2N DOID:0110298 ICD10CM:G71.0 OMIM:613158 ORDO:206559
				congenital muscular dystrophy-dystroglycanopathy type A2 IDs congenital muscular dystrophy-dystroglycanopathy type A2 DOID:0111240 OMIM:613150
				lissencephaly IDs lissencephaly DOID:0050453 ICD10CM:Q04.3 MESH:D054082 NCI:C103921 OMIM:PS607432 ORDO:102009 UMLS_CUI:C0266463 UMLS_CUI:C0266483
				muscular dystrophy IDs muscular dystrophy DOID:9884 ICD10CM:G71.0 ICD9CM:359.1 MESH:D009136 NCI:C84910 OMIM:158800 OMIM:159050 OMIM:309930 OMIM:309950 OMIM:310000 OMIM:310095 OMIM:600416 UMLS_CUI:C0026850
				muscular dystrophy-dystroglycanopathy type B2 IDs muscular dystrophy-dystroglycanopathy type B2 DOID:0112380 OMIM:613156
				Walker-Warburg syndrome IDs Walker-Warburg syndrome DOID:0050560 MESH:D058494

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

20 phenotypes from 3 alleles in 5 genetic backgrounds
11 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

10
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

1
Targeted

6
Genomic Mutations

1 involving Pomt2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

38 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for one knock-out allele die between E8.5 and E9.5 with abnormal Reichert's membrane and runting. Mice homozygous for another allele die before implantation and arrest at the morula stage.

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All GO Annotations

19
GO References

7

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

931
Tissues

140
cDNA Data

45
Literature Summary

9

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pomt2

ZFIN pomt2

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All Sequences

49
RefSeq

5
UniProt

2
CCDS

CCDS26070.1

Ensembl

ENSMUSG00000034126 (Evidence)
NCBI Gene

217734

			Length	Strain/Species	Flank
genomic	217734	NCBI Gene Model \| MGI Sequence Detail	41108	C57BL/6J	± kb
transcript	NM_153415	RefSeq \| MGI Sequence Detail	5082	C57BL/6
polypeptide	Q8BGQ4	UniProt \| EBI \| MGI Sequence Detail	820	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000013019 protein O-mannosyl-transferase 2

(term hierarchy)
EC

2.4.1.109
InterPro Domains

IPR027005 Glycosyltransferase 39-like

IPR003342 Glycosyl transferase family 39/83

IPR036300 Mir domain superfamily

IPR016093 MIR motif

IPR032421 Protein O-mannosyl-transferase, C-terminal four TM domain
GlyGen

Q8BGQ4 6 sites, 3 N-linked glycans (4 sites)

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All nucleic 49

cDNA 46

Primer pair 3

Microarray probesets 4

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MGI:2144992

Summaries

All 41

Developmental Gene Expression 9

Gene Ontology 7

Phenotypes 11
Earliest

J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
Latest

J:313619 Bedogni F, et al., Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. Front Mol Neurosci. 2021;14:686034

TSS for Pomt2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr117158	Chr12:87194657-87194682 (-)	72 bp
Tssr117157	Chr12:87194258-87194269 (-)	478 bp
Tssr117156	Chr12:87194192-87194250 (-)	521 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24