Sh3gl2 MGI Mouse Gene Detail - MGI:700009

Symbol

Sh3gl2
Name

SH3-domain GRB2-like 2
Synonyms

9530001L19Rik, B930049H17Rik, EEN1, EEN-B1, endophilin A1, endophilin I, Sh3d2a

Feature Type

protein coding gene
IDs

MGI:700009
NCBI Gene: 20404
Alliance

gene page
Transcription Start Sites

14 TSS

Sequence Map

Chr4:85123663-85307617 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 40.23 cM
Mapping Data

5 experiments

SNPs within 2kb

6129 from dbSNP Build 142
Strain Annotations

18
RFLP

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_700009	protein coding gene	Chr4:85123363-85557432 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0028408	protein coding gene	Chr4:84887948-85351298 (+)
A/J	MGP_AJ_G0028369	protein coding gene	Chr4:81932316-82358336 (+)
AKR/J	MGP_AKRJ_G0028318	protein coding gene	Chr4:84028392-84477923 (+)
BALB/cJ	MGP_BALBcJ_G0028389	protein coding gene	Chr4:82146520-82572391 (+)
C3H/HeJ	MGP_C3HHeJ_G0028104	protein coding gene	Chr4:84661330-85109530 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0028828	protein coding gene	Chr4:88184985-88626567 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026128	protein coding gene	Chr4:77845779-78251892 (+)
CAST/EiJ	MGP_CASTEiJ_G0027545	protein coding gene	Chr4:82575700-83017197 (+)
CBA/J	MGP_CBAJ_G0028073	protein coding gene	Chr4:90880003-91361508 (+)
DBA/2J	MGP_DBA2J_G0028222	protein coding gene	Chr4:81718184-82136806 (+)
FVB/NJ	MGP_FVBNJ_G0028188	protein coding gene	Chr4:80702561-81127333 (+)
LP/J	MGP_LPJ_G0028322	protein coding gene	Chr4:85233067-85688797 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0028217	protein coding gene	Chr4:95982094-96450226 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0028865	protein coding gene	Chr4:84101009-84529883 (+)
PWK/PhJ	MGP_PWKPhJ_G0027268	protein coding gene	Chr4:80057720-80490586 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0027093	protein coding gene	Chr4:81677387-82116129 (+)
WSB/EiJ	MGP_WSBEiJ_G0027621	protein coding gene	Chr4:84284606-84724711 (+)

Human Ortholog

SH3GL2, SH3 domain containing GRB2 like 2, endophilin A1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SH3GL2, SH3 domain containing GRB2 like 2, endophilin A1
Synonyms

CNSA2, EEN-B1, SH3D2A, SH3P4
Links

HGNC:10831

NCBI Gene ID: 6456

neXtProt AC: NX_Q99962

UniProt: Q99962
Chr Location

9p22.2; chr9:17579066-17797124 (+) GRCh38

MGI Vertebrate Homology

Sh3gl2 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: SH3GL2
Gene Tree

Sh3gl2

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Phenotype Summary

7 phenotypes from 2 alleles in 2 genetic backgrounds
19 phenotypes from multigenic genotypes
23 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

26
Chemically induced (other)

2
Gene trapped

16
Radiation induced

1
Targeted

7
Genomic Mutations

3 involving Sh3gl2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

37 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele are normal and fertile. Mice homozygous for knock-out alleles of Sh3gl1-3 exhibit neonatal lethality, respiratory distress, absence of gastric milk, abnormal synaptic transmission and abnormal synaptic vesicle recycling.

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All GO Annotations

54
GO References

14

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

771
Tissues

58
cDNA Data

36
Literature Summary

4

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase sh3gl2

ZFIN sh3gl2a

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All Sequences

54
RefSeq

6
UniProt

5
CCDS

CCDS18303.1

Ensembl

ENSMUSG00000028488 (Evidence)
NCBI Gene

20404

			Length	Strain/Species	Flank
genomic	20404	NCBI Gene Model \| MGI Sequence Detail	183955	C57BL/6J	± kb
transcript	NM_019535	RefSeq \| MGI Sequence Detail	2837	ZRU/MplStud
polypeptide	Q62420	UniProt \| EBI \| MGI Sequence Detail	352	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000014824 endophilin-A1

(term hierarchy)
PDB

1ZWW
InterPro Domains

IPR027267 AH/BAR domain superfamily

IPR004148 BAR domain

IPR035824 Endophilin-A, SH3 domain

IPR050384 Endophilin/SH3RF

IPR001452 SH3 domain

IPR036028 SH3-like domain superfamily

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All nucleic 38

cDNA 38

Microarray probesets 6

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MGI:2140194, MGI:2140599, MGI:2441867, MGI:2445166

Summaries

All 74

Developmental Gene Expression 4

Gene Ontology 14

Phenotypes 23
Earliest

J:35786 Sparks AB, et al., Cloning of ligand targets: systematic isolation of SH3 domain-containing proteins. Nat Biotechnol. 1996 Jun;14(6):741-4
Latest

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

TSS for Sh3gl2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr37705	Chr4:85123357-85123368 (+)	-300 bp
Tssr37706	Chr4:85123373-85123386 (+)	-283 bp
Tssr37707	Chr4:85123388-85123429 (+)	-254 bp
Tssr37708	Chr4:85123446-85123465 (+)	-207 bp
Tssr37709	Chr4:85123654-85123732 (+)	30 bp
Tssr37710	Chr4:85123740-85123753 (+)	84 bp
Tssr37711	Chr4:85123755-85123759 (+)	94 bp
Tssr37712	Chr4:85123912-85123922 (+)	254 bp
Tssr37713	Chr4:85297567-85297584 (+)	173,913 bp
Tssr37714	Chr4:85306332-85306343 (+)	182,675 bp
Tssr37715	Chr4:85306367-85306379 (+)	182,710 bp
Tssr37716	Chr4:85306461-85306476 (+)	182,806 bp
Tssr37717	Chr4:85306501-85306522 (+)	182,849 bp
Tssr37718	Chr4:85307055-85307059 (+)	183,394 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