SH3GL3 (SH3 domain containing GRB2 like 3, endophilin A3) - Rat Genome Database
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Gene: SH3GL3 (SH3 domain containing GRB2 like 3, endophilin A3) Homo sapiens
Analyze
Symbol: SH3GL3
Name: SH3 domain containing GRB2 like 3, endophilin A3
RGD ID: 731323
HGNC Page HGNC
Description: Exhibits identical protein binding activity. Predicted to be involved in synaptic vesicle uncoating. Predicted to localize to early endosome; PARTICIPATES IN clathrin-dependent synaptic vesicle endocytosis; endocytosis pathway; INTERACTS WITH 17beta-estradiol; arsane; arsenic atom.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: CNSA3; EEN-2B-L3; EEN-B2; endophilin A3; endophilin-3; endophilin-A3; HsT19371; SH3 domain containing GRB2 like 3; SH3 domain containing GRB2 like endophilin A3; SH3 domain protein 2C; SH3 domain-containing GRB2-like protein 3; SH3-domain GRB2-like 3; SH3D2C; SH3P13
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1583,447,228 - 83,618,743 (+)EnsemblGRCh38hg38GRCh38
GRCh381583,447,123 - 83,618,743 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371584,116,093 - 84,287,495 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361581,907,287 - 82,078,495 (+)NCBINCBI36hg18NCBI36
Build 341581,907,286 - 82,078,495NCBI
Celera1560,298,989 - 60,470,347 (-)NCBI
Cytogenetic Map15q25.2NCBI
HuRef1560,379,941 - 60,551,319 (+)NCBIHuRef
CHM1_11583,857,593 - 84,029,128 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
amenorrhea  (IAGP)
Bloom syndrome  (IAGP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:9122235   PMID:9169142   PMID:9238017   PMID:9809064   PMID:10535961   PMID:10542231   PMID:10764144   PMID:10816441   PMID:11894096   PMID:12034747   PMID:12135478   PMID:12177062  
PMID:12477732   PMID:12477932   PMID:14551139   PMID:15342556   PMID:15383276   PMID:15919751   PMID:16115810   PMID:16169070   PMID:16713569   PMID:17161366   PMID:18391950   PMID:18391951  
PMID:18602463   PMID:19266077   PMID:19308258   PMID:19807924   PMID:20397748   PMID:20531441   PMID:20546612   PMID:21722156   PMID:21900206   PMID:22901147   PMID:22998870   PMID:23376485  
PMID:24076656   PMID:24658140   PMID:25402006   PMID:26186194   PMID:27683032   PMID:27720640   PMID:28514442   PMID:29997244   PMID:30021884   PMID:31586073   PMID:31980649   PMID:32193381  
PMID:32296183   PMID:32838362  


Genomics

Comparative Map Data
SH3GL3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1583,447,228 - 83,618,743 (+)EnsemblGRCh38hg38GRCh38
GRCh381583,447,123 - 83,618,743 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371584,116,093 - 84,287,495 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361581,907,287 - 82,078,495 (+)NCBINCBI36hg18NCBI36
Build 341581,907,286 - 82,078,495NCBI
Celera1560,298,989 - 60,470,347 (-)NCBI
Cytogenetic Map15q25.2NCBI
HuRef1560,379,941 - 60,551,319 (+)NCBIHuRef
CHM1_11583,857,593 - 84,029,128 (+)NCBICHM1_1
Sh3gl3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39781,824,544 - 81,956,628 (+)NCBIGRCm39mm39
GRCm39 Ensembl781,823,588 - 81,956,627 (+)Ensembl
GRCm38782,173,808 - 82,307,420 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl782,173,840 - 82,307,419 (+)EnsemblGRCm38mm10GRCm38
MGSCv37789,408,638 - 89,455,929 (+)NCBIGRCm37mm9NCBIm37
MGSCv36782,136,564 - 82,183,595 (+)NCBImm8
Celera779,583,452 - 79,715,386 (+)NCBICelera
Cytogenetic Map7D3NCBI
cM Map747.15NCBI
Sh3gl3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21136,124,502 - 136,255,669 (+)NCBI
Rnor_6.0 Ensembl1144,069,638 - 144,200,397 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01144,069,641 - 144,200,402 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01145,001,327 - 145,131,961 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41138,398,336 - 138,529,056 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11138,476,741 - 138,607,462 (+)NCBI
Celera1128,174,057 - 128,303,475 (+)NCBICelera
Cytogenetic Map1q31NCBI
Sh3gl3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541613,150,021 - 13,297,878 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541613,151,288 - 13,297,878 (-)NCBIChiLan1.0ChiLan1.0
SH3GL3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11581,337,223 - 81,502,229 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1581,337,529 - 81,501,770 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01561,988,584 - 62,153,543 (-)NCBIMhudiblu_PPA_v0panPan3
SH3GL3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1355,287,460 - 55,340,736 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl355,287,460 - 55,340,571 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha357,849,401 - 57,991,318 (+)NCBI
ROS_Cfam_1.0355,633,727 - 55,769,378 (+)NCBI
UMICH_Zoey_3.1355,141,227 - 55,277,053 (+)NCBI
UNSW_CanFamBas_1.0355,351,137 - 55,486,712 (+)NCBI
UU_Cfam_GSD_1.0355,688,264 - 55,825,678 (+)NCBI
Sh3gl3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640128,158,006 - 128,283,492 (-)NCBI
SpeTri2.0NW_00493648318,051,023 - 18,176,514 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SH3GL3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl751,377,618 - 51,540,296 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1751,381,091 - 51,514,253 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2756,871,306 - 57,006,768 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SH3GL3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1292,009,833 - 2,177,843 (-)NCBI
ChlSab1.1 Ensembl292,009,776 - 2,177,747 (-)Ensembl
Sh3gl3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476819,168,922 - 19,320,366 (+)NCBI

Position Markers
D15S205  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371584,230,721 - 84,230,880UniSTSGRCh37
Build 361582,021,725 - 82,021,884RGDNCBI36
Celera1560,355,595 - 60,355,736RGD
Cytogenetic Map15q24UniSTS
HuRef1560,494,551 - 60,494,692UniSTS
Marshfield Genetic Map1578.92RGD
Marshfield Genetic Map1578.92UniSTS
Genethon Genetic Map1577.4UniSTS
deCODE Assembly Map1589.09UniSTS
Whitehead-YAC Contig Map15 UniSTS
RH70954  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371584,287,144 - 84,287,272UniSTSGRCh37
Build 361582,078,148 - 82,078,276RGDNCBI36
Celera1560,299,212 - 60,299,340RGD
Cytogenetic Map15q24UniSTS
HuRef1560,550,968 - 60,551,096UniSTS
GeneMap99-GB4 RH Map15297.5UniSTS
NCBI RH Map15575.2UniSTS
RH79009  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371584,287,119 - 84,287,302UniSTSGRCh37
Build 361582,078,123 - 82,078,306RGDNCBI36
Celera1560,299,182 - 60,299,365RGD
Cytogenetic Map15q24UniSTS
HuRef1560,550,943 - 60,551,126UniSTS
GeneMap99-GB4 RH Map15285.54UniSTS
NCBI RH Map15550.5UniSTS
G10450  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371584,158,567 - 84,158,735UniSTSGRCh37
Build 361581,949,571 - 81,949,739RGDNCBI36
Celera1560,427,703 - 60,427,871RGD
Cytogenetic Map15q24UniSTS
HuRef1560,422,414 - 60,422,582UniSTS
G60237  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371584,222,225 - 84,222,327UniSTSGRCh37
Build 361582,013,229 - 82,013,331RGDNCBI36
Celera1560,364,127 - 60,364,229RGD
Cytogenetic Map15q24UniSTS
HuRef1560,486,057 - 60,486,159UniSTS
TNG Radiation Hybrid Map1533220.0UniSTS
SHGC-2201  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371584,230,730 - 84,230,864UniSTSGRCh37
Build 361582,021,734 - 82,021,868RGDNCBI36
Celera1560,355,611 - 60,355,727RGD
Cytogenetic Map15q24UniSTS
HuRef1560,494,560 - 60,494,676UniSTS
TNG Radiation Hybrid Map1533227.0UniSTS
BCD1457  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371584,287,246 - 84,287,324UniSTSGRCh37
Build 361582,078,250 - 82,078,328RGDNCBI36
Celera1560,299,160 - 60,299,238RGD
Cytogenetic Map15q24UniSTS
HuRef1560,551,070 - 60,551,148UniSTS
GeneMap99-GB4 RH Map15287.97UniSTS
SH3GL3__6824  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371584,286,895 - 84,287,519UniSTSGRCh37
Build 361582,077,899 - 82,078,523RGDNCBI36
Celera1560,298,965 - 60,299,589RGD
HuRef1560,550,719 - 60,551,343UniSTS
D15S660  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371584,158,548 - 84,158,773UniSTSGRCh37
Build 361581,949,552 - 81,949,777RGDNCBI36
Celera1560,427,665 - 60,427,890RGD
Cytogenetic Map15q24UniSTS
HuRef1560,422,395 - 60,422,620UniSTS
D15S944  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371584,222,232 - 84,222,358UniSTSGRCh37
Build 361582,013,236 - 82,013,362RGDNCBI36
Celera1560,364,096 - 60,364,222RGD
Cytogenetic Map15q24UniSTS
HuRef1560,486,064 - 60,486,190UniSTS
Whitehead-YAC Contig Map15 UniSTS
D15S819  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371584,282,295 - 84,282,452UniSTSGRCh37
Build 361582,073,299 - 82,073,456RGDNCBI36
Celera1560,304,032 - 60,304,189RGD
Cytogenetic Map15q24UniSTS
HuRef1560,546,118 - 60,546,275UniSTS
Whitehead-YAC Contig Map15 UniSTS
2038  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371584,180,113 - 84,180,211UniSTSGRCh37
Build 361581,971,117 - 81,971,215RGDNCBI36
Celera1560,406,230 - 60,406,328RGD
Cytogenetic Map15q24UniSTS
HuRef1560,443,957 - 60,444,055UniSTS
GeneMap99-GB4 RH Map15288.07UniSTS
NCBI RH Map15554.4UniSTS
SHGC-30592  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371584,287,342 - 84,287,491UniSTSGRCh37
Build 361582,078,346 - 82,078,495RGDNCBI36
Celera1560,298,993 - 60,299,142RGD
Cytogenetic Map15q24UniSTS
HuRef1560,551,166 - 60,551,315UniSTS
TNG Radiation Hybrid Map1533253.0UniSTS
Stanford-G3 RH Map153001.0UniSTS
GeneMap99-GB4 RH Map15296.55UniSTS
Whitehead-RH Map15315.2UniSTS
NCBI RH Map15585.9UniSTS
GeneMap99-G3 RH Map152996.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1567
Count of miRNA genes:511
Interacting mature miRNAs:571
Transcripts:ENST00000324537, ENST00000427482, ENST00000434347, ENST00000467735, ENST00000492099, ENST00000535412, ENST00000563901, ENST00000564054
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 4 11 6 12 10 3 152 10 2596 23 390 14 9 2
Low 318 471 326 53 51 25 995 77 665 84 556 696 36 159 669 1
Below cutoff 1831 1892 900 296 867 177 2612 1618 446 215 461 673 123 830 1738 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001301108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001301109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_125370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_931878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_931879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_931880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_931882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC025483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC087738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF036269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF036270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF036271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL109775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP228213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X99664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000324537   ⟹   ENSP00000320092
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1583,447,531 - 83,618,739 (+)Ensembl
RefSeq Acc Id: ENST00000427482   ⟹   ENSP00000391372
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1583,447,341 - 83,618,743 (+)Ensembl
RefSeq Acc Id: ENST00000467735
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1583,609,403 - 83,618,305 (+)Ensembl
RefSeq Acc Id: ENST00000492099
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1583,447,228 - 83,565,883 (+)Ensembl
RefSeq Acc Id: ENST00000563901   ⟹   ENSP00000456249
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1583,447,376 - 83,618,739 (+)Ensembl
RefSeq Acc Id: ENST00000564054
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1583,609,270 - 83,618,642 (+)Ensembl
RefSeq Acc Id: NM_001301108   ⟹   NP_001288037
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381583,447,341 - 83,618,743 (+)NCBI
CHM1_11583,857,593 - 84,029,128 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001301109   ⟹   NP_001288038
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381583,447,341 - 83,618,743 (+)NCBI
CHM1_11583,857,593 - 84,029,128 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324182   ⟹   NP_001311111
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381583,447,341 - 83,618,743 (+)NCBI
CHM1_11583,857,593 - 84,029,128 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324183   ⟹   NP_001311112
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381583,447,341 - 83,618,743 (+)NCBI
CHM1_11583,857,593 - 84,029,128 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324184   ⟹   NP_001311113
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381583,447,341 - 83,618,743 (+)NCBI
CHM1_11583,857,593 - 84,029,128 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324185   ⟹   NP_001311114
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381583,447,341 - 83,618,743 (+)NCBI
CHM1_11583,857,593 - 84,029,128 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324186   ⟹   NP_001311115
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381583,447,341 - 83,618,743 (+)NCBI
CHM1_11583,857,593 - 84,029,128 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324187   ⟹   NP_001311116
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381583,490,614 - 83,618,743 (+)NCBI
CHM1_11583,900,983 - 84,029,128 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003027   ⟹   NP_003018
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381583,447,341 - 83,618,743 (+)NCBI
GRCh371584,116,091 - 84,287,495 (+)ENTREZGENE
Build 361581,907,287 - 82,078,495 (+)NCBI Archive
HuRef1560,379,941 - 60,551,319 (+)ENTREZGENE
CHM1_11583,857,593 - 84,029,128 (+)NCBI
Sequence:
RefSeq Acc Id: NR_125370
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381583,447,341 - 83,618,743 (+)NCBI
CHM1_11583,857,593 - 84,029,128 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136711
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381583,447,341 - 83,618,743 (+)NCBI
CHM1_11583,857,593 - 84,029,128 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136712
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381583,447,341 - 83,618,743 (+)NCBI
CHM1_11583,857,593 - 84,029,128 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136713
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381583,447,341 - 83,618,743 (+)NCBI
CHM1_11583,857,593 - 84,029,128 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136714
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381583,447,341 - 83,618,743 (+)NCBI
CHM1_11583,857,593 - 84,029,128 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011521889   ⟹   XP_011520191
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381583,447,123 - 83,618,743 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011521891   ⟹   XP_011520193
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381583,447,123 - 83,618,743 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011521892   ⟹   XP_011520194
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381583,447,123 - 83,586,975 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022486   ⟹   XP_016877975
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381583,511,618 - 83,618,743 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024450017   ⟹   XP_024305785
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381583,447,123 - 83,618,743 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001751372
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381583,447,123 - 83,618,351 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001751373
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381583,447,123 - 83,618,351 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001751374
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381583,511,630 - 83,618,743 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001751375
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381583,447,123 - 83,618,743 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002957669
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381583,447,123 - 83,618,351 (+)NCBI
Sequence:
RefSeq Acc Id: XR_931878
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381583,447,123 - 83,618,743 (+)NCBI
Sequence:
RefSeq Acc Id: XR_931879
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381583,447,123 - 83,618,351 (+)NCBI
Sequence:
RefSeq Acc Id: XR_931880
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381583,447,123 - 83,618,308 (+)NCBI
Sequence:
RefSeq Acc Id: XR_931882
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381583,447,123 - 83,618,743 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003018   ⟸   NM_003027
- Peptide Label: isoform a
- UniProtKB: Q99963 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001288038   ⟸   NM_001301109
- Peptide Label: isoform c
- UniProtKB: Q99963 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001288037   ⟸   NM_001301108
- Peptide Label: isoform b
- UniProtKB: Q99963 (UniProtKB/Swiss-Prot),   A0A024R215 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011520191   ⟸   XM_011521889
- Peptide Label: isoform X1
- UniProtKB: Q99963 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011520193   ⟸   XM_011521891
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011520194   ⟸   XM_011521892
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: NP_001311113   ⟸   NM_001324184
- Peptide Label: isoform e
- Sequence:
RefSeq Acc Id: NP_001311112   ⟸   NM_001324183
- Peptide Label: isoform c
- UniProtKB: Q99963 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001311114   ⟸   NM_001324185
- Peptide Label: isoform b
- UniProtKB: Q99963 (UniProtKB/Swiss-Prot),   A0A024R215 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001311115   ⟸   NM_001324186
- Peptide Label: isoform e
- Sequence:
RefSeq Acc Id: NP_001311111   ⟸   NM_001324182
- Peptide Label: isoform d
- Sequence:
RefSeq Acc Id: NP_001311116   ⟸   NM_001324187
- Peptide Label: isoform b
- UniProtKB: Q99963 (UniProtKB/Swiss-Prot),   A0A024R215 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016877975   ⟸   XM_017022486
- Peptide Label: isoform X2
- UniProtKB: Q99963 (UniProtKB/Swiss-Prot),   A0A024R215 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024305785   ⟸   XM_024450017
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000391372   ⟸   ENST00000427482
RefSeq Acc Id: ENSP00000320092   ⟸   ENST00000324537
RefSeq Acc Id: ENSP00000456249   ⟸   ENST00000563901
Protein Domains
BAR   SH3

Promoters
RGD ID:6792602
Promoter ID:HG_KWN:22192
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000324537,   NR_026799,   OTTHUMT00000347797,   OTTHUMT00000347798,   UC002BJV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361581,906,881 - 81,907,381 (+)MPROMDB
RGD ID:7230377
Promoter ID:EPDNEW_H20934
Type:initiation region
Name:SH3GL3_1
Description:SH3 domain containing GRB2 like 3, endophilin A3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381583,447,376 - 83,447,436EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q25.2(chr15:82558402-84121082)x3 copy number gain See cases [RCV000051826] Chr15:82558402..84121082 [GRCh38]
Chr15:83214012..84789834 [GRCh37]
Chr15:81011067..82580838 [NCBI36]
Chr15:15q25.2		 pathogenic
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] Chr15:75307767..101723215 [GRCh38]
Chr15:75600108..102263418 [GRCh37]
Chr15:73387161..100080941 [NCBI36]
Chr15:15q24.2-26.3		 pathogenic
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 copy number gain See cases [RCV000052347] Chr15:77543797..101843411 [GRCh38]
Chr15:77836139..102383614 [GRCh37]
Chr15:75623194..100201137 [NCBI36]
Chr15:15q24.3-26.3		 pathogenic
NM_003027.4(SH3GL3):c.246G>A (p.Lys82=) single nucleotide variant Malignant melanoma [RCV000070922] Chr15:83568587 [GRCh38]
Chr15:84237339 [GRCh37]
Chr15:82028343 [NCBI36]
Chr15:15q25.2		 not provided
NM_003027.4(SH3GL3):c.45+43258G>A single nucleotide variant Malignant melanoma [RCV000062937] Chr15:83490836 [GRCh38]
Chr15:84159588 [GRCh37]
Chr15:81950592 [NCBI36]
Chr15:15q25.2		 not provided
GRCh38/hg38 15q25.2(chr15:83598551-84060830)x3 copy number gain See cases [RCV000136088] Chr15:83598551..84060830 [GRCh38]
Chr15:84267303..84729582 [GRCh37]
Chr15:82058307..82520586 [NCBI36]
Chr15:15q25.2		 likely benign
GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3 copy number gain See cases [RCV000136849] Chr15:82859676..101810992 [GRCh38]
Chr15:83528428..102351195 [GRCh37]
Chr15:81325482..100168718 [NCBI36]
Chr15:15q25.2-26.3		 pathogenic
GRCh38/hg38 15q25.2-25.3(chr15:82560915-85185613)x1 copy number loss See cases [RCV000137052] Chr15:82560915..85185613 [GRCh38]
Chr15:83229665..85728844 [GRCh37]
Chr15:81026720..83529848 [NCBI36]
Chr15:15q25.2-25.3		 likely pathogenic|uncertain significance
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3		 pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3		 pathogenic
GRCh38/hg38 15q25.2-25.3(chr15:82627214-85243616)x1 copy number loss See cases [RCV000143125] Chr15:82627214..85243616 [GRCh38]
Chr15:83083418..85786847 [GRCh37]
Chr15:80880473..83587851 [NCBI36]
Chr15:15q25.2-25.3		 likely pathogenic
GRCh37/hg19 15q25.2(chr15:83213963-84811815)x1 copy number loss Premature ovarian failure [RCV000225327] Chr15:83213963..84811815 [GRCh37]
Chr15:15q25.2		 likely pathogenic
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 copy number gain See cases [RCV000511332] Chr15:76061144..102429112 [GRCh37]
Chr15:15q24.2-26.3		 pathogenic
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3		 pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3		 likely pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3		 pathogenic
GRCh37/hg19 15q25.1-26.3(chr15:80648093-102429112)x3 copy number gain See cases [RCV000445705] Chr15:80648093..102429112 [GRCh37]
Chr15:15q25.1-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q25.2(chr15:83679705-84450756)x3 copy number gain See cases [RCV000448403] Chr15:83679705..84450756 [GRCh37]
Chr15:15q25.2		 uncertain significance
GRCh37/hg19 15q25.2(chr15:83169558-84847653)x1 copy number loss See cases [RCV000510435] Chr15:83169558..84847653 [GRCh37]
Chr15:15q25.2		 likely pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q25.2(chr15:82606408-84970771)x3 copy number gain See cases [RCV000512491] Chr15:82606408..84970771 [GRCh37]
Chr15:15q25.2		 uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
GRCh37/hg19 15q25.2(chr15:84060589-84224905)x1 copy number loss not provided [RCV000683715] Chr15:84060589..84224905 [GRCh37]
Chr15:15q25.2		 uncertain significance
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3		 pathogenic
GRCh37/hg19 15q25.1-25.3(chr15:79023343-87158823)x1,2 copy number gain not provided [RCV000683712] Chr15:79023343..87158823 [GRCh37]
Chr15:15q25.1-25.3		 pathogenic
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3 copy number gain not provided [RCV000683710] Chr15:77479244..102429112 [GRCh37]
Chr15:15q24.3-26.3		 pathogenic
NC_000015.9:g.83214012_84812693del1598682 deletion Primary amenorrhea [RCV000754462] Chr15:83214012..84812693 [GRCh37]
Chr15:15q25.2		 likely pathogenic
GRCh37/hg19 15q25.2(chr15:84059972-84205754)x1 copy number loss not provided [RCV000751373] Chr15:84059972..84205754 [GRCh37]
Chr15:15q25.2		 benign
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q25.2(chr15:83214012-84772030)x1 copy number loss not provided [RCV000856636] Chr15:83214012..84772030 [GRCh37]
Chr15:15q25.2		 pathogenic
GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844) copy number loss not provided [RCV000767759] Chr15:83883823..92165844 [GRCh37]
Chr15:15q25.2-26.1		 pathogenic
GRCh37/hg19 15q25.2(chr15:82688216-84796779)x1 copy number loss not provided [RCV000848551] Chr15:82688216..84796779 [GRCh37]
Chr15:15q25.2		 pathogenic
GRCh37/hg19 15q25.2(chr15:82468371-84797068)x3 copy number gain not provided [RCV000846337] Chr15:82468371..84797068 [GRCh37]
Chr15:15q25.2		 uncertain significance
GRCh37/hg19 15q25.2(chr15:83982145-84171247)x3 copy number gain not provided [RCV000846277] Chr15:83982145..84171247 [GRCh37]
Chr15:15q25.2		 uncertain significance
GRCh37/hg19 15q25.2(chr15:84022862-84171247)x3 copy number gain not provided [RCV000847933] Chr15:84022862..84171247 [GRCh37]
Chr15:15q25.2		 uncertain significance
GRCh37/hg19 15q25.2(chr15:84204529-84605706)x3 copy number gain not provided [RCV000849951] Chr15:84204529..84605706 [GRCh37]
Chr15:15q25.2		 uncertain significance
NM_003027.5(SH3GL3):c.974G>A (p.Gly325Glu) single nucleotide variant not provided [RCV000995408] Chr15:83618217 [GRCh38]
Chr15:84286969 [GRCh37]
Chr15:15q25.2		 uncertain significance
GRCh37/hg19 15q25.2-25.3(chr15:83201955-85786847)x1 copy number loss not provided [RCV001259716] Chr15:83201955..85786847 [GRCh37]
Chr15:15q25.2-25.3		 pathogenic
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1		 uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10832 AgrOrtholog
COSMIC SH3GL3 COSMIC
Ensembl Genes ENSG00000140600 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000320092 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000391372 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000456249 UniProtKB/TrEMBL
Ensembl Transcript ENST00000324537 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000427482 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000563901 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 1.20.1270.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000140600 GTEx
HGNC ID HGNC:10832 ENTREZGENE
Human Proteome Map SH3GL3 Human Proteome Map
InterPro AH/BAR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BAR_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Endophilin-A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Endophilin-A3_BAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Endophilin_A_SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6457 UniProtKB/Swiss-Prot
NCBI Gene 6457 ENTREZGENE
OMIM 603362 OMIM
PANTHER PTHR14167:SF45 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35738 PharmGKB
PRINTS SH3DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE BAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF103657 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R215 ENTREZGENE, UniProtKB/TrEMBL
  H3BRH8_HUMAN UniProtKB/TrEMBL
  Q8IVP1_HUMAN UniProtKB/TrEMBL
  Q99963 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary O43553 UniProtKB/Swiss-Prot
  O43554 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-21 SH3GL3  SH3 domain containing GRB2 like 3, endophilin A3    SH3 domain containing GRB2 like endophilin A3  Symbol and/or name change 5135510 APPROVED
2016-05-24 SH3GL3  SH3 domain containing GRB2 like endophilin A3    SH3 domain containing GRB2 like 3  Symbol and/or name change 5135510 APPROVED
2016-05-03 SH3GL3  SH3 domain containing GRB2 like 3    SH3-domain GRB2-like 3  Symbol and/or name change 5135510 APPROVED