Ganab MGI Mouse Gene Detail - MGI:1097667 - alpha glucosidase 2 alpha neutral subunit

Symbol

Ganab
Name

alpha glucosidase 2 alpha neutral subunit
Synonyms

G2an, GluII, mKIAA0088

Feature Type

protein coding gene
IDs

MGI:1097667
NCBI Gene: 14376
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr19:8875435-8894036 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 5.96 cM
Mapping Data

2 experiments

SNPs within 2kb

414 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1097667	protein coding gene	Chr19:8875435-8894098 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0024821	protein coding gene	Chr19:6183257-6204152 (+)
A/J	MGP_AJ_G0024789	protein coding gene	Chr19:5850346-5868914 (+)
AKR/J	MGP_AKRJ_G0024764	protein coding gene	Chr19:5945826-5965374 (+)
BALB/cJ	MGP_BALBcJ_G0024789	protein coding gene	Chr19:5958640-5977188 (+)
C3H/HeJ	MGP_C3HHeJ_G0024555	protein coding gene	Chr19:6032915-6051482 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0025236	protein coding gene	Chr19:6320256-6340276 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022665	protein coding gene	Chr19:6104646-6126691 (+)
CAST/EiJ	MGP_CASTEiJ_G0024028	protein coding gene	Chr19:5685370-5703972 (+)
CBA/J	MGP_CBAJ_G0024529	protein coding gene	Chr19:6436812-6457861 (+)
DBA/2J	MGP_DBA2J_G0024656	protein coding gene	Chr19:5682776-5701487 (+)
FVB/NJ	MGP_FVBNJ_G0024623	protein coding gene	Chr19:5755733-5774303 (+)
LP/J	MGP_LPJ_G0024743	protein coding gene	Chr19:6078282-6097933 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024650	protein coding gene	Chr19:6294950-6314538 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025285	protein coding gene	Chr19:5992094-6011580 (+)
PWK/PhJ	MGP_PWKPhJ_G0023773	protein coding gene	Chr19:5357526-5376513 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0023578	protein coding gene	Chr19:5604242-5624683 (+)
WSB/EiJ	MGP_WSBEiJ_G0024090	protein coding gene	Chr19:5963288-5982753 (+)

Human Ortholog

GANAB, glucosidase II alpha subunit

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

GANAB, glucosidase II alpha subunit
Synonyms

G2AN, GIIA, GIIalpha, GLUII, PKD3
Links

HGNC:4138

NCBI Gene ID: 23193

neXtProt AC: NX_Q14697

UniProt: Q14697
Chr Location

11q12.3

MGI Vertebrate Homology

Ganab stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: GANAB
Gene Tree

Ganab

Diseases

3 with human GANAB associations

				Human Disease	Mouse Models
				polycystic kidney disease IDs polycystic kidney disease DOID:0080322 OMIM:PS173900
				polycystic kidney disease 3 IDs polycystic kidney disease 3 DOID:0110860 OMIM:600666
				polycystic liver disease IDs polycystic liver disease DOID:0050770 DOID:1173 MESH:C536330

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

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Phenotype Summary

2 phenotypes from 1 allele in 1 genetic background
8 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

25
Endonuclease-mediated

4
Gene trapped

21
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

45 strains or lines available

Mice homozygous for a null allele exhibit early embryonic lethality before E3.5. Heterozygotes do not develop polycystic kidneys or polycystic livers.

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All GO Annotations

25
GO References

9

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

893
Tissues

94
cDNA Data

409
Literature Summary

2

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ganab

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All Sequences

68
RefSeq

8
UniProt

3
CCDS

CCDS29557.1, CCDS89335.1

Ensembl

ENSMUSG00000071650 (Evidence)
NCBI Gene

14376

			Length	Strain/Species	Flank
genomic	ENSMUSG00000071650	Ensembl Gene Model \| MGI Sequence Detail	18602	C57BL/6J	± kb
transcript	ENSMUST00000096246	Ensembl \| MGI Sequence Detail	3860	Not Applicable
polypeptide	ENSMUSP00000093965	Ensembl \| MGI Sequence Detail	966	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000007837 neutral alpha-glucosidase AB

(term hierarchy)
PDB

5F0E, 5H9O, 5HJO, 5HJR, 5IED, 5IEE, 5IEF, 5IEG, 7JTY, 7K9N, 7K9O, 7K9Q, 7K9T, 7KAD, 7KB6, 7KB8, 7KBJ, 7KBR, 7KRY, 7L9E
EC

3.2.1.207
InterPro Domains

IPR011013 Galactose mutarotase-like domain superfamily

IPR025887 Glycoside hydrolase family 31, N-terminal domain

IPR000322 Glycoside hydrolase family 31, TIM barrel domain

IPR017853 Glycoside hydrolase superfamily

IPR013780 Glycosyl hydrolase, all-beta

IPR048395 Glycosyl hydrolase family 31, C-terminal domain

IPR030458 Glycosyl hydrolases family 31, active site

IPR030459 Glycosyl hydrolases family 31, conserved site
GlyGen

Q8BHN3 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

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All nucleic 410

cDNA 409

Primer pair 1

Microarray probesets 3

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MGI:2147660

Summaries

All 43

Developmental Gene Expression 2

Gene Ontology 9

Phenotypes 8
Earliest

J:40482 Arendt CW, et al., Identification of the CD45-associated 116-kDa and 80-kDa proteins as the alpha- and beta-subunits of alpha-glucosidase II. J Biol Chem. 1997 May 16;272(20):13117-25
Latest

J:304107 Geng G, et al., Ganab Haploinsufficiency Does Not Cause Polycystic Kidney Disease or Polycystic Liver Disease in Mice. Biomed Res Int. 2020;2020:7469428

TSS for Ganab:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr154875	Chr19:8875459-8875486 (+)	38 bp
Tssr154876	Chr19:8882350-8882379 (+)	6,930 bp
Tssr154877	Chr19:8893120-8893147 (+)	17,699 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)
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