Sh3gl1 MGI Mouse Gene Detail - MGI:700010

Symbol

Sh3gl1
Name

SH3-domain GRB2-like 1
Synonyms

EEN, endophilin A2, endophilin II, Sh3d2b, SH3P8

Feature Type

protein coding gene
IDs

MGI:700010
NCBI Gene: 20405
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr17:56323750-56343635 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 29.11 cM
Mapping Data

4 experiments

SNPs within 2kb

514 from dbSNP Build 142
Strain Annotations

18
RFLP

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_700010	protein coding gene	Chr17:56323750-56343659 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0023908	protein coding gene	Chr17:57641812-57664402 (-)
A/J	MGP_AJ_G0023868	protein coding gene	Chr17:56088429-56109498 (-)
AKR/J	MGP_AKRJ_G0023837	protein coding gene	Chr17:56774213-56794097 (-)
BALB/cJ	MGP_BALBcJ_G0023869	protein coding gene	Chr17:55923541-55945111 (-)
C3H/HeJ	MGP_C3HHeJ_G0023632	protein coding gene	Chr17:57481784-57501668 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0024313	protein coding gene	Chr17:59925950-59945834 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021760	protein coding gene	Chr17:52606300-52626561 (-)
CAST/EiJ	MGP_CASTEiJ_G0023115	protein coding gene	Chr17:57786149-57812479 (-)
CBA/J	MGP_CBAJ_G0023609	protein coding gene	Chr17:62231531-62254750 (-)
DBA/2J	MGP_DBA2J_G0023737	protein coding gene	Chr17:54823159-54843043 (-)
FVB/NJ	MGP_FVBNJ_G0023703	protein coding gene	Chr17:54340298-54360841 (-)
LP/J	MGP_LPJ_G0023817	protein coding gene	Chr17:58364553-58384433 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0023730	protein coding gene	Chr17:61791742-61811633 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0024358	protein coding gene	Chr17:57148518-57168402 (-)
PWK/PhJ	MGP_PWKPhJ_G0022860	protein coding gene	Chr17:54165402-54185417 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0022672	protein coding gene	Chr17:53914758-53934636 (-)
WSB/EiJ	MGP_WSBEiJ_G0023179	protein coding gene	Chr17:57762057-57781937 (-)

Human Ortholog

SH3GL1, SH3 domain containing GRB2 like 1, endophilin A2

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SH3GL1, SH3 domain containing GRB2 like 1, endophilin A2
Synonyms

CNSA1, EEN, SH3D2B, SH3P8
Links

HGNC:10830

NCBI Gene ID: 6455

neXtProt AC: NX_Q99961

UniProt: Q99961
Chr Location

19p13.3; chr19:4360370-4400547 (-) GRCh38

MGI Vertebrate Homology

Sh3gl1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: SH3GL1
Gene Tree

Sh3gl1

Diseases

2 with human SH3GL1 associations

				Human Disease	Mouse Models
				acute myeloid leukemia IDs acute myeloid leukemia DOID:9119 DOID:9118 DOID:9171 ICD10CM:C92.0 ICD9CM:205.0 KEGG:05221 MESH:D015470 NCI:C3171 OMIM:601626 UMLS_CUI:C0023467
				high grade glioma IDs high grade glioma DOID:3070 DOID:2627 KEGG:05214 MESH:D005910 NCI:C3059 NCI:C4822 OMIM:PS137800 ORDO:182067 UMLS_CUI:C0017638 UMLS_CUI:C0555198

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

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

1 phenotype from 1 allele in 1 genetic background
25 phenotypes from multigenic genotypes
22 phenotype references

All Mutations and Alleles

26
Gene trapped

18
Targeted

8
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

37 strains or lines available

Mice homozygous for a knock-out allele exhibit normal life span and no obvious phenotypic defects. Mice homozygous for knock-out alleles of Sh3gl1-3 exhibit neonatal lethality, respiratory distress, absence of gastric milk, abnormal synaptic transmissionand abnormal synaptic vesicle recycling.

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All GO Annotations

32
GO References

8

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

758
Tissues

39
cDNA Data

13
Literature Summary

5

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase sh3gl1

ZFIN sh3gl1a, sh3gl1b

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All Sequences

51
RefSeq

6
UniProt

5
CCDS

CCDS28891.1, CCDS89121.1

Ensembl

ENSMUSG00000003200 (Evidence)
NCBI Gene

20405

			Length	Strain/Species	Flank
genomic	ENSMUSG00000003200	Ensembl Gene Model \| MGI Sequence Detail	19886	C57BL/6J	± kb
transcript	ENSMUST00000003268	Ensembl \| MGI Sequence Detail	2073	Not Applicable
polypeptide	ENSMUSP00000003268	Ensembl \| MGI Sequence Detail	368	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000014823 endophilin-A2

(term hierarchy)
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
GlyGen

Q62419 2 sites, 1 O-linked glycan (2 sites)

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All nucleic 14

Genomic 1

cDNA 13

Microarray probesets 4

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MGI:2147117

Summaries

All 58

Developmental Gene Expression 5

Diseases 1

Gene Ontology 8

Phenotypes 22
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:301279 Norin U, et al., Endophilin A2 deficiency protects rodents from autoimmune arthritis by modulating T cell activation. Nat Commun. 2021 Jan 27;12(1):610

TSS for Sh3gl1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr148735	Chr17:56343546-56343647 (-)	38 bp
Tssr148734	Chr17:56343486-56343501 (-)	141 bp
Tssr148733	Chr17:56324440-56324458 (-)	19,186 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 11/12/2024 MGI 6.24