Gm2a MGI Mouse Gene Detail - MGI:95762 - GM2 ganglioside activator protein

Symbol

Gm2a
Name

GM2 ganglioside activator protein

Feature Type

protein coding gene
IDs

MGI:95762
NCBI Gene: 14667
Alliance

gene page
Transcription Start Sites

19 TSS

Sequence Map

Chr11:54988941-55003855 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 32.13 cM
Mapping Data

11 experiments

SNPs within 2kb

451 from dbSNP Build 142
Strain Annotations

18
RFLP

3

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_95762	protein coding gene	Chr11:54988811-55003855 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0018325	protein coding gene	Chr11:54609963-54624919 (+)
A/J	MGP_AJ_G0018294	protein coding gene	Chr11:52572320-52587272 (+)
AKR/J	MGP_AKRJ_G0018263	protein coding gene	Chr11:54290650-54307357 (+)
BALB/cJ	MGP_BALBcJ_G0018265	protein coding gene	Chr11:52910636-52925773 (+)
C3H/HeJ	MGP_C3HHeJ_G0018076	protein coding gene	Chr11:54229401-54244734 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0018717	protein coding gene	Chr11:56262473-56277362 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016367	protein coding gene	Chr11:50009149-50024026 (+)
CAST/EiJ	MGP_CASTEiJ_G0017641	protein coding gene	Chr11:54272215-54287836 (+)
CBA/J	MGP_CBAJ_G0018051	protein coding gene	Chr11:58944996-58962425 (+)
DBA/2J	MGP_DBA2J_G0018160	protein coding gene	Chr11:52269205-52284405 (+)
FVB/NJ	MGP_FVBNJ_G0018152	protein coding gene	Chr11:51932113-51947031 (+)
LP/J	MGP_LPJ_G0018235	protein coding gene	Chr11:55061574-55076407 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018178	protein coding gene	Chr11:60143818-60160124 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018759	protein coding gene	Chr11:54304088-54320849 (+)
PWK/PhJ	MGP_PWKPhJ_G0017414	protein coding gene	Chr11:52829991-52845003 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0017209	protein coding gene	Chr11:54096144-54112311 (+)
WSB/EiJ	MGP_WSBEiJ_G0017689	protein coding gene	Chr11:53948480-53963328 (+)

Human Ortholog

GM2A, ganglioside GM2 activator

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

GM2A, ganglioside GM2 activator
Synonyms

GM2-AP, GM2AP, SAP-3
Links

HGNC:4367

NCBI Gene ID: 2760

neXtProt AC: NX_P17900

UniProt: P17900
Chr Location

5q33.1; chr5:151212150-151270440 (+) GRCh38

MGI Vertebrate Homology

Gm2a stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: GM2A
Gene Tree

Gm2a

Diseases

1 with Gm2a mouse models; 2 with human GM2A associations

Human Disease

Mouse Models

GM2 gangliosidosis, AB variant

IDs

View 1 model

GM2 gangliosidosis

IDs

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

Mutations/Alleles

1 with disease annotations

References

2 with disease annotations

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Phenotype Summary

16 phenotypes from 2 alleles in 2 genetic backgrounds
16 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

11
Chemically induced (other)

1
Endonuclease-mediated

4
Gene trapped

1
Targeted

5
Genomic Mutations

2 involving Gm2a
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

12 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for a targeted null mutation exhibit abnormal accumulation of glycolipid and ganglioside in various brain regions with impaired balance, coordination, and learning.

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All GO Annotations

28
GO References

10

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

816
Tissues

76
cDNA Data

11
Literature Summary

10

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase gm2a

ZFIN gm2a

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All Sequences

42
RefSeq

2
UniProt

2
CCDS

CCDS24707.1

Ensembl

ENSMUSG00000000594 (Evidence)
NCBI Gene

14667

			Length	Strain/Species	Flank
genomic	ENSMUSG00000000594	Ensembl Gene Model \| MGI Sequence Detail	14915	C57BL/6J	± kb
transcript	ENSMUST00000000608	Ensembl \| MGI Sequence Detail	4127	Not Applicable
polypeptide	ENSMUSP00000000608	Ensembl \| MGI Sequence Detail	193	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000008064 ganglioside GM2 activator

(term hierarchy)
PDB

2AGC
InterPro Domains

IPR028996 Ganglioside GM2 activator

IPR036846 GM2-AP, lipid-recognition domain superfamily

IPR003172 MD-2-related lipid-recognition domain
GlyGen

Q60648 1 site

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All nucleic 23

Genomic 7

cDNA 13

Primer pair 3

Microarray probesets 4

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MGD-MRK-10170, MGI:2143984, MGI:2144514

Summaries

All 60

Developmental Gene Expression 10

Diseases 2

Gene Ontology 10

Phenotypes 16
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Gm2a:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr101587	Chr11:54988794-54988805 (+)	-141 bp
Tssr101588	Chr11:54988868-54988928 (+)	-43 bp
Tssr101589	Chr11:54988930-54988955 (+)	2 bp
Tssr101590	Chr11:54988958-54988976 (+)	26 bp
Tssr101591	Chr11:54994370-54994388 (+)	5,438 bp
Tssr101592	Chr11:54994534-54994550 (+)	5,601 bp
Tssr101593	Chr11:54999839-54999882 (+)	10,920 bp
Tssr101594	Chr11:55000198-55000209 (+)	11,263 bp
Tssr101595	Chr11:55000439-55000448 (+)	11,503 bp
Tssr101596	Chr11:55000466-55000468 (+)	11,526 bp
Tssr101597	Chr11:55000531-55000542 (+)	11,596 bp
Tssr101598	Chr11:55000633-55000652 (+)	11,702 bp
Tssr101599	Chr11:55000661-55000672 (+)	11,726 bp
Tssr101600	Chr11:55000916-55000923 (+)	11,979 bp
Tssr101601	Chr11:55000993-55000998 (+)	12,055 bp
Tssr101602	Chr11:55001038-55001043 (+)	12,100 bp
Tssr101603	Chr11:55001128-55001155 (+)	12,201 bp
Tssr101604	Chr11:55001163-55001182 (+)	12,232 bp
Tssr101605	Chr11:55001223-55001243 (+)	12,292 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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