Sh3gl3 MGI Mouse Gene Detail - MGI:700011

Symbol

Sh3gl3
Name

SH3-domain GRB2-like 3
Synonyms

EEN-B2, endophilin A3, endophilin III, Sh3d2c, Sh3d2c2, SH3P13

Feature Type

protein coding gene
IDs

MGI:700011
NCBI Gene: 20408
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr7:81824581-81956618 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 47.15 cM, cytoband D2-3
Mapping Data

7 experiments

SNPs within 2kb

3952 from dbSNP Build 142
Strain Annotations

18
PCR

1
RFLP

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_700011	protein coding gene	Chr7:81823588-81956627 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0032442	protein coding gene	Chr7:84276478-84412340 (+)
A/J	MGP_AJ_G0032420	protein coding gene	Chr7:82269515-82399146 (+)
AKR/J	MGP_AKRJ_G0032356	protein coding gene	Chr7:84116501-84252475 (+)
BALB/cJ	MGP_BALBcJ_G0032432	protein coding gene	Chr7:81925821-82059526 (+)
C3H/HeJ	MGP_C3HHeJ_G0032146	protein coding gene	Chr7:84697956-84835788 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0032923	protein coding gene	Chr7:87556819-87697850 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0029933	protein coding gene	Chr7:84715109-84838831 (+)
CAST/EiJ	MGP_CASTEiJ_G0031473	protein coding gene	Chr7:75651367-75787279 (+)
CBA/J	MGP_CBAJ_G0032111	protein coding gene	Chr7:90474439-90614650 (+)
DBA/2J	MGP_DBA2J_G0032266	protein coding gene	Chr7:80794012-80920026 (+)
FVB/NJ	MGP_FVBNJ_G0032220	protein coding gene	Chr7:80736645-80868618 (+)
LP/J	MGP_LPJ_G0032347	protein coding gene	Chr7:85500939-85633294 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0032257	protein coding gene	Chr7:90523908-90668738 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0032943	protein coding gene	Chr7:83515157-83655451 (+)
PWK/PhJ	MGP_PWKPhJ_G0031193	protein coding gene	Chr7:74003586-74135122 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0031035	protein coding gene	Chr7:70494766-70623857 (+)
WSB/EiJ	MGP_WSBEiJ_G0031590	protein coding gene	Chr7:83880130-84017958 (+)

Human Ortholog

SH3GL3, SH3 domain containing GRB2 like 3, endophilin A3

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SH3GL3, SH3 domain containing GRB2 like 3, endophilin A3
Synonyms

CNSA3, EEN-B2, HsT19371, SH3D2C, SH3P13
Links

HGNC:10832

NCBI Gene ID: 6457

UniProt: Q99963
Chr Location

15q25.2; chr15:83447228-83633820 (+) GRCh38

MGI Vertebrate Homology

Sh3gl3 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: SH3GL3
Gene Tree

Sh3gl3

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Phenotype Summary

1 phenotype from 1 allele in 1 genetic background
12 phenotypes from multigenic genotypes
20 phenotype references

All Mutations and Alleles

10
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

3
Radiation induced

2
Targeted

2
Genomic Mutations

3 involving Sh3gl3
Incidental Mutations

CvDC
Find Mice (IMSR)

17 strains or lines available

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

24
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

767
Tissues

56
cDNA Data

6
Literature Summary

2

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase sh3gl3

ZFIN sh3gl3b

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All Sequences

75
RefSeq

26
UniProt

7
CCDS

CCDS90263.1

Ensembl

ENSMUSG00000030638 (Evidence)
NCBI Gene

20408

			Length	Strain/Species	Flank
genomic	20408	NCBI Gene Model \| MGI Sequence Detail	132038	C57BL/6J	± kb
transcript	NM_017400	RefSeq \| MGI Sequence Detail	1593	ZRU/MplStud
polypeptide	Q62421	UniProt \| EBI \| MGI Sequence Detail	347	Not Applicable

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UniProt

7 Sequences
Protein Ontology

PR:000014825 endophilin-A3

(term hierarchy)
InterPro Domains

IPR027267 AH/BAR domain superfamily

IPR004148 BAR domain

IPR032469 Endophilin-A3, BAR domain

IPR035824 Endophilin-A, SH3 domain

IPR050384 Endophilin/SH3RF

IPR001452 SH3 domain

IPR036028 SH3-like domain superfamily
GlyGen

Q62421 1 site, 1 N-linked glycan (1 site)

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All nucleic 8

Genomic 1

cDNA 6

Primer pair 1

Microarray probesets 3

Summaries

All 51

Developmental Gene Expression 2

Gene Ontology 7

Phenotypes 20
Earliest

J:88307 Giometti CS, et al., The analysis of recessive lethal mutations in mice by using two-dimensional gel electrophoresis of liver proteins. Mutat Res. 1990 Sep;242(1):47-55
Latest

J:286566 Gowrisankaran S, et al., Endophilin-A coordinates priming and fusion of neurosecretory vesicles via intersectin. Nat Commun. 2020 Mar 9;11(1):1266

TSS for Sh3gl3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr67529	Chr7:81823546-81823556 (+)	-1,030 bp
Tssr67530	Chr7:81824546-81824573 (+)	-21 bp
Tssr67531	Chr7:81824574-81824602 (+)	7 bp
Tssr67532	Chr7:81824618-81824623 (+)	40 bp
Tssr67533	Chr7:81824935-81824947 (+)	360 bp
Tssr67534	Chr7:81824954-81824991 (+)	392 bp
Tssr67535	Chr7:81859235-81859247 (+)	34,660 bp
Tssr67536	Chr7:81913645-81913652 (+)	89,068 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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