SH3GL1 (SH3 domain containing GRB2 like 1, endophilin A2) - Rat Genome Database

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Gene: SH3GL1 (SH3 domain containing GRB2 like 1, endophilin A2) Homo sapiens
Analyze
Symbol: SH3GL1
Name: SH3 domain containing GRB2 like 1, endophilin A2
RGD ID: 1351797
HGNC Page HGNC:10830
Description: Enables identical protein binding activity. Predicted to be involved in synaptic vesicle uncoating. Located in cytosol. Implicated in acute myeloid leukemia and high grade glioma. Biomarker of high grade glioma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CNSA1; EEN; EEN fusion partner of MLL; endophilin A2; endophilin-2; endophilin-A2; extra 11-19 leukemia fusion; extra eleven-nineteen leukemia fusion; extra eleven-nineteen leukemia fusion gene protein; fusion partner of MLL; MGC111371; SH3 domain containing GRB2 like 1; SH3 domain GRB2-like 1; SH3 domain protein 2B; SH3 domain-containing GRB2-like protein 1; SH3-containing Grb-2-like 1 protein; SH3-containing protein EEN; SH3-domain GRB2-like 1; SH3D2B; SH3P8
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AP003170.2   SH3GL1P1   SH3GL1P2   SH3GL1P3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38194,360,370 - 4,400,547 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl194,360,370 - 4,400,547 (-)EnsemblGRCh38hg38GRCh38
GRCh37194,360,367 - 4,400,544 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36194,311,367 - 4,351,471 (-)NCBINCBI36Build 36hg18NCBI36
Build 34194,311,367 - 4,351,471NCBI
Celera194,298,613 - 4,338,694 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef194,122,883 - 4,162,918 (-)NCBIHuRef
CHM1_1194,360,010 - 4,400,159 (-)NCBICHM1_1
T2T-CHM13v2.0194,343,819 - 4,383,971 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Autologous antibody to src-homology 3-domain GRB2-like 1 specifically increases in the sera of patients with low-grade gliomas. Matsutani T, etal., J Exp Clin Cancer Res. 2012 Oct 11;31:85. doi: 10.1186/1756-9966-31-85.
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6. Synaptic vesicle endocytosis. Saheki Y and De Camilli P, Cold Spring Harb Perspect Biol. 2012 Sep 1;4(9):a005645. doi: 10.1101/cshperspect.a005645.
Additional References at PubMed
PMID:9122235   PMID:9169142   PMID:10542231   PMID:10764144   PMID:10816441   PMID:11894095   PMID:11894096   PMID:12477932   PMID:14551139   PMID:14702039   PMID:15077184   PMID:15214844  
PMID:15489334   PMID:15944398   PMID:16115810   PMID:16169070   PMID:16189514   PMID:16990610   PMID:17088211   PMID:17428861   PMID:17891136   PMID:18029348   PMID:18330356   PMID:19060904  
PMID:20627007   PMID:20963938   PMID:21516116   PMID:21873635   PMID:21900206   PMID:21988832   PMID:22167186   PMID:22183150   PMID:22360420   PMID:22558309   PMID:22750032   PMID:22863883  
PMID:22998870   PMID:23146885   PMID:23970061   PMID:24704450   PMID:24999758   PMID:25036101   PMID:25416956   PMID:25468996   PMID:25517096   PMID:25784716   PMID:26186194   PMID:26549023  
PMID:26687479   PMID:27093085   PMID:27220321   PMID:27453043   PMID:27684187   PMID:27720640   PMID:27741419   PMID:28235806   PMID:28514442   PMID:28515276   PMID:28675297   PMID:28702842  
PMID:28718761   PMID:28974266   PMID:29113429   PMID:29229926   PMID:29743367   PMID:30061681   PMID:30442762   PMID:30471916   PMID:30833792   PMID:31046837   PMID:31091453   PMID:31132962  
PMID:31239290   PMID:31452512   PMID:31519766   PMID:32203420   PMID:32296183   PMID:32513696   PMID:32552912   PMID:32640226   PMID:32687490   PMID:32814053   PMID:32989298   PMID:33187986  
PMID:33226740   PMID:33661592   PMID:33916271   PMID:33961781   PMID:34079125   PMID:34323351   PMID:34702444   PMID:34723452   PMID:35253629   PMID:35271311   PMID:35337019   PMID:35384245  
PMID:35446349   PMID:35831314   PMID:35944360   PMID:36168628   PMID:36215168   PMID:36232890   PMID:36424410   PMID:36931259   PMID:37232246   PMID:37774976   PMID:37812440   PMID:37827155  
PMID:38280479  


Genomics

Comparative Map Data
SH3GL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38194,360,370 - 4,400,547 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl194,360,370 - 4,400,547 (-)EnsemblGRCh38hg38GRCh38
GRCh37194,360,367 - 4,400,544 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36194,311,367 - 4,351,471 (-)NCBINCBI36Build 36hg18NCBI36
Build 34194,311,367 - 4,351,471NCBI
Celera194,298,613 - 4,338,694 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef194,122,883 - 4,162,918 (-)NCBIHuRef
CHM1_1194,360,010 - 4,400,159 (-)NCBICHM1_1
T2T-CHM13v2.0194,343,819 - 4,383,971 (-)NCBIT2T-CHM13v2.0
Sh3gl1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391756,323,750 - 56,343,659 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1756,323,750 - 56,343,635 (-)EnsemblGRCm39 Ensembl
GRCm381756,016,750 - 56,036,659 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1756,016,750 - 56,036,635 (-)EnsemblGRCm38mm10GRCm38
MGSCv371756,156,173 - 56,175,999 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361755,610,043 - 55,629,869 (-)NCBIMGSCv36mm8
Celera1759,435,412 - 59,455,238 (-)NCBICelera
Cytogenetic Map17DNCBI
cM Map1729.11NCBI
Sh3gl1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr89929,459 - 956,922 (-)NCBIGRCr8
mRatBN7.29842,285 - 869,753 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl9842,288 - 869,716 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx91,293,680 - 1,316,867 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.096,640,221 - 6,663,407 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.095,598,716 - 5,621,903 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0911,031,847 - 11,055,285 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl911,031,841 - 11,055,285 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0910,018,274 - 10,040,574 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera97,637,327 - 7,660,492 (+)NCBICelera
Cytogenetic Map9q11NCBI
Sh3gl1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554954,502,173 - 4,531,758 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554954,502,173 - 4,531,758 (+)NCBIChiLan1.0ChiLan1.0
SH3GL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2208,758,290 - 8,798,179 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1197,987,387 - 8,027,288 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0193,383,267 - 3,423,165 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1194,329,750 - 4,336,356 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl194,329,750 - 4,340,121 (-)Ensemblpanpan1.1panPan2
SH3GL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12055,279,622 - 55,311,579 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2055,279,621 - 55,311,536 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2055,007,793 - 55,039,737 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02055,938,684 - 55,970,631 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2055,938,677 - 55,980,136 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12054,999,266 - 55,031,183 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02055,480,162 - 55,512,107 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02055,678,880 - 55,710,790 (+)NCBIUU_Cfam_GSD_1.0
Sh3gl1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118215,298,810 - 215,330,409 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365882,504,374 - 2,536,011 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365882,504,372 - 2,535,993 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SH3GL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl274,414,466 - 74,445,447 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1274,414,453 - 74,445,450 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2274,907,406 - 74,938,402 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SH3GL1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.164,090,800 - 4,130,566 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl64,091,359 - 4,130,578 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660814,072,672 - 4,112,482 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sh3gl1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248285,305,070 - 5,330,440 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248285,304,887 - 5,330,440 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SH3GL1
28 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 copy number gain See cases [RCV000052879] Chr19:1972245..9648879 [GRCh38]
Chr19:1972244..9759555 [GRCh37]
Chr19:1923244..9620555 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3(chr19:4008560-4763159)x3 copy number gain See cases [RCV000052880] Chr19:4008560..4763159 [GRCh38]
Chr19:4008558..4763171 [GRCh37]
Chr19:3959558..4714171 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:4039158-9176125)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|See cases [RCV000052881] Chr19:4039158..9176125 [GRCh38]
Chr19:4039156..9286801 [GRCh37]
Chr19:3990156..9147801 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3 copy number gain See cases [RCV000052575] Chr19:233565..4699472 [GRCh38]
Chr19:233565..4699484 [GRCh37]
Chr19:184565..4650484 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1 copy number loss See cases [RCV000053943] Chr19:3554635..4690965 [GRCh38]
Chr19:3554633..4690977 [GRCh37]
Chr19:3505633..4641977 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:3947934-5196676)x3 copy number gain See cases [RCV000134164] Chr19:3947934..5196676 [GRCh38]
Chr19:3947932..5196687 [GRCh37]
Chr19:3898932..5147687 [NCBI36]
Chr19:19p13.3
pathogenic|uncertain significance
GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1 copy number loss See cases [RCV000134482] Chr19:3338024..4833139 [GRCh38]
Chr19:3338022..4833151 [GRCh37]
Chr19:3289022..4784151 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3 copy number gain See cases [RCV000137713] Chr19:3080621..4912622 [GRCh38]
Chr19:3080619..4912634 [GRCh37]
Chr19:3031619..4863634 [NCBI36]
Chr19:19p13.3
likely pathogenic
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1 copy number loss See cases [RCV000143614] Chr19:3788727..5147354 [GRCh38]
Chr19:3788725..5147365 [GRCh37]
Chr19:3739725..5098365 [NCBI36]
Chr19:19p13.3
likely pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
NM_003025.4(SH3GL1):c.316G>A (p.Gly106Ser) single nucleotide variant Inborn genetic diseases [RCV003299658] Chr19:4365497 [GRCh38]
Chr19:4365494 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_003025.4(SH3GL1):c.967G>A (p.Gly323Arg) single nucleotide variant Inborn genetic diseases [RCV003248172] Chr19:4361740 [GRCh38]
Chr19:4361737 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3 copy number gain not provided [RCV000684096] Chr19:3120160..9732820 [GRCh37]
Chr19:19p13.3-13.2
pathogenic
Single allele duplication Primary amenorrhea [RCV000754469] Chr19:3718839..4604407 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_003025.4(SH3GL1):c.331+82A>G single nucleotide variant not provided [RCV001668694] Chr19:4365400 [GRCh38]
Chr19:4365397 [GRCh37]
Chr19:19p13.3
benign
NM_003025.4(SH3GL1):c.45+7G>A single nucleotide variant not provided [RCV001666679] Chr19:4400317 [GRCh38]
Chr19:4400314 [GRCh37]
Chr19:19p13.3
benign
NM_003025.4(SH3GL1):c.911-200_911-199del deletion not provided [RCV001681788] Chr19:4361995..4361996 [GRCh38]
Chr19:4361992..4361993 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:3076808-4796782) copy number loss not provided [RCV000767742] Chr19:3076808..4796782 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3 copy number gain not provided [RCV000846988] Chr19:260911..4788357 [GRCh37]
Chr19:19p13.3
pathogenic
NC_000019.9:g.(?_589946)_(4818389_?)dup duplication not provided [RCV003105391] Chr19:589946..4818389 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003025.4(SH3GL1):c.187+279T>C single nucleotide variant not provided [RCV001651582] Chr19:4366222 [GRCh38]
Chr19:4366219 [GRCh37]
Chr19:19p13.3
benign
NM_003025.4(SH3GL1):c.728+78G>A single nucleotide variant not provided [RCV001676371] Chr19:4363292 [GRCh38]
Chr19:4363289 [GRCh37]
Chr19:19p13.3
benign
NM_003025.4(SH3GL1):c.1065C>T (p.Phe355=) single nucleotide variant not provided [RCV000952773] Chr19:4361642 [GRCh38]
Chr19:4361639 [GRCh37]
Chr19:19p13.3
benign
NM_003025.4(SH3GL1):c.222G>A (p.Val74=) single nucleotide variant not provided [RCV000961577] Chr19:4365591 [GRCh38]
Chr19:4365588 [GRCh37]
Chr19:19p13.3
benign
NM_003025.4(SH3GL1):c.771C>G (p.Pro257=) single nucleotide variant Acute myeloid leukemia [RCV001807455]|not provided [RCV001637606] Chr19:4362694 [GRCh38]
Chr19:4362691 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:260912-4384674)x3 copy number gain See cases [RCV001007443] Chr19:260912..4384674 [GRCh37]
Chr19:19p13.3
pathogenic
NM_003025.4(SH3GL1):c.728+197C>A single nucleotide variant not provided [RCV001599175] Chr19:4363173 [GRCh38]
Chr19:4363170 [GRCh37]
Chr19:19p13.3
benign
NM_003025.4(SH3GL1):c.625-96_625-95del microsatellite not provided [RCV001678898] Chr19:4363568..4363569 [GRCh38]
Chr19:4363565..4363566 [GRCh37]
Chr19:19p13.3
benign
NM_003025.4(SH3GL1):c.123_129del (p.Asp41fs) deletion Acute myeloid leukemia [RCV001334101] Chr19:4366559..4366565 [GRCh38]
Chr19:4366556..4366562 [GRCh37]
Chr19:19p13.3
pathogenic
NM_003025.4(SH3GL1):c.869G>A (p.Arg290Gln) single nucleotide variant Inborn genetic diseases [RCV003293754] Chr19:4362370 [GRCh38]
Chr19:4362367 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:4182912-4633772)x3 copy number gain not provided [RCV001833036] Chr19:4182912..4633772 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:3501624-5357124)x1 copy number loss not provided [RCV001834187] Chr19:3501624..5357124 [GRCh37]
Chr19:19p13.3
pathogenic
NC_000019.9:g.(?_589946)_(5696788_?)dup duplication not provided [RCV003113597] Chr19:589946..5696788 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003025.4(SH3GL1):c.547C>A (p.Leu183Ile) single nucleotide variant Inborn genetic diseases [RCV003287698] Chr19:4363797 [GRCh38]
Chr19:4363794 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003025.4(SH3GL1):c.680G>A (p.Arg227Gln) single nucleotide variant Inborn genetic diseases [RCV002779348] Chr19:4363418 [GRCh38]
Chr19:4363415 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003025.4(SH3GL1):c.890G>A (p.Arg297Gln) single nucleotide variant Inborn genetic diseases [RCV002981620] Chr19:4362349 [GRCh38]
Chr19:4362346 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003025.4(SH3GL1):c.137C>T (p.Ala46Val) single nucleotide variant Inborn genetic diseases [RCV002998497] Chr19:4366551 [GRCh38]
Chr19:4366548 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003025.4(SH3GL1):c.215A>G (p.Asn72Ser) single nucleotide variant Inborn genetic diseases [RCV002848604] Chr19:4365598 [GRCh38]
Chr19:4365595 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003025.4(SH3GL1):c.688G>A (p.Val230Met) single nucleotide variant Inborn genetic diseases [RCV002980213] Chr19:4363410 [GRCh38]
Chr19:4363407 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003025.4(SH3GL1):c.994G>A (p.Val332Ile) single nucleotide variant Inborn genetic diseases [RCV002977080] Chr19:4361713 [GRCh38]
Chr19:4361710 [GRCh37]
Chr19:19p13.3
likely benign
NM_003025.4(SH3GL1):c.869G>C (p.Arg290Pro) single nucleotide variant Inborn genetic diseases [RCV002874717] Chr19:4362370 [GRCh38]
Chr19:4362367 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003025.4(SH3GL1):c.730A>T (p.Met244Leu) single nucleotide variant Inborn genetic diseases [RCV002855419] Chr19:4362735 [GRCh38]
Chr19:4362732 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003025.4(SH3GL1):c.319G>A (p.Glu107Lys) single nucleotide variant Inborn genetic diseases [RCV002831520] Chr19:4365494 [GRCh38]
Chr19:4365491 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003025.4(SH3GL1):c.952G>C (p.Glu318Gln) single nucleotide variant Inborn genetic diseases [RCV002657620] Chr19:4361755 [GRCh38]
Chr19:4361752 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003025.4(SH3GL1):c.877G>A (p.Asp293Asn) single nucleotide variant Inborn genetic diseases [RCV003173776] Chr19:4362362 [GRCh38]
Chr19:4362359 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003025.4(SH3GL1):c.838G>A (p.Ala280Thr) single nucleotide variant Inborn genetic diseases [RCV003201244] Chr19:4362627 [GRCh38]
Chr19:4362624 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003025.4(SH3GL1):c.845A>G (p.Lys282Arg) single nucleotide variant Inborn genetic diseases [RCV003343209] Chr19:4362620 [GRCh38]
Chr19:4362617 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_003025.4(SH3GL1):c.289A>C (p.Met97Leu) single nucleotide variant Inborn genetic diseases [RCV003353337] Chr19:4365524 [GRCh38]
Chr19:4365521 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3 copy number gain not provided [RCV003485190] Chr19:260912..7246777 [GRCh37]
Chr19:19p13.3-13.2
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4895
Count of miRNA genes:815
Interacting mature miRNAs:975
Transcripts:ENST00000269886, ENST00000417295, ENST00000593591, ENST00000598219, ENST00000598230, ENST00000598564
Prediction methods:Microtar, Miranda, Rnahybrid
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.

Markers in Region
D19S894  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37194,392,434 - 4,392,595UniSTSGRCh37
Build 36194,343,434 - 4,343,595RGDNCBI36
Celera194,330,659 - 4,330,820RGD
Cytogenetic Map19p13.3UniSTS
HuRef194,154,934 - 4,155,093UniSTS
Marshfield Genetic Map1915.55UniSTS
Marshfield Genetic Map1915.55RGD
Genethon Genetic Map1915.4UniSTS
deCODE Assembly Map1914.95UniSTS
RH119795  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37194,394,430 - 4,394,764UniSTSGRCh37
Build 36194,345,430 - 4,345,764RGDNCBI36
Celera194,332,654 - 4,332,988RGD
Cytogenetic Map19p13.3UniSTS
HuRef194,156,927 - 4,157,261UniSTS
TNG Radiation Hybrid Map19264.0UniSTS
D7S836  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37194,396,333 - 4,396,882UniSTSGRCh37
Build 36194,347,333 - 4,347,882RGDNCBI36
Celera194,334,556 - 4,335,105RGD
HuRef2045,161,165 - 45,161,408UniSTS
HuRef1718,327,213 - 18,327,519UniSTS
D7S845  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37194,396,333 - 4,396,882UniSTSGRCh37
Build 36194,347,333 - 4,347,882RGDNCBI36
Celera194,334,556 - 4,335,105RGD
HuRef1718,327,213 - 18,327,519UniSTS
STS-F10175  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37194,360,414 - 4,360,589UniSTSGRCh37
Build 36194,311,414 - 4,311,589RGDNCBI36
Celera194,298,660 - 4,298,835RGD
Cytogenetic Map19p13.3UniSTS
HuRef194,122,933 - 4,123,108UniSTS
GeneMap99-GB4 RH Map1932.74UniSTS


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2437 2703 1719 618 1906 459 3904 1503 3458 410 1458 1613 175 1 1204 2335 6 2
Low 2 288 7 6 45 6 453 694 276 9 2 453
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC007292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF190465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY364240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC073825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC098565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU838380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK820395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U65999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X99656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000269886   ⟹   ENSP00000269886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl194,360,370 - 4,400,547 (-)Ensembl
RefSeq Acc Id: ENST00000417295   ⟹   ENSP00000404568
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl194,361,316 - 4,400,525 (-)Ensembl
RefSeq Acc Id: ENST00000593591   ⟹   ENSP00000471260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl194,363,822 - 4,390,610 (-)Ensembl
RefSeq Acc Id: ENST00000598219   ⟹   ENSP00000472640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl194,366,503 - 4,396,023 (-)Ensembl
RefSeq Acc Id: ENST00000598230   ⟹   ENSP00000469766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl194,363,853 - 4,380,292 (-)Ensembl
RefSeq Acc Id: ENST00000598564   ⟹   ENSP00000470792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl194,360,371 - 4,400,418 (-)Ensembl
RefSeq Acc Id: NM_001199943   ⟹   NP_001186872
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38194,360,370 - 4,400,547 (-)NCBI
GRCh37194,360,364 - 4,400,565 (-)ENTREZGENE
HuRef194,122,883 - 4,162,918 (-)ENTREZGENE
CHM1_1194,360,010 - 4,400,159 (-)NCBI
T2T-CHM13v2.0194,343,819 - 4,383,971 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001199944   ⟹   NP_001186873
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38194,360,370 - 4,400,547 (-)NCBI
GRCh37194,360,364 - 4,400,565 (-)ENTREZGENE
HuRef194,122,883 - 4,162,918 (-)ENTREZGENE
CHM1_1194,360,010 - 4,400,009 (-)NCBI
T2T-CHM13v2.0194,343,819 - 4,383,971 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003025   ⟹   NP_003016
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38194,360,370 - 4,400,547 (-)NCBI
GRCh37194,360,364 - 4,400,565 (-)ENTREZGENE
Build 36194,311,367 - 4,351,471 (-)NCBI Archive
HuRef194,122,883 - 4,162,918 (-)ENTREZGENE
CHM1_1194,360,010 - 4,400,159 (-)NCBI
T2T-CHM13v2.0194,343,819 - 4,383,971 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017027146   ⟹   XP_016882635
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38194,360,370 - 4,379,795 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047439222   ⟹   XP_047295178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38194,360,370 - 4,400,547 (-)NCBI
RefSeq Acc Id: XM_054321771   ⟹   XP_054177746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0194,343,819 - 4,363,241 (-)NCBI
RefSeq Acc Id: XM_054321772   ⟹   XP_054177747
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0194,343,819 - 4,383,971 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001186872 (Get FASTA)   NCBI Sequence Viewer  
  NP_001186873 (Get FASTA)   NCBI Sequence Viewer  
  NP_003016 (Get FASTA)   NCBI Sequence Viewer  
  XP_016882635 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295178 (Get FASTA)   NCBI Sequence Viewer  
  XP_054177746 (Get FASTA)   NCBI Sequence Viewer  
  XP_054177747 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB86800 (Get FASTA)   NCBI Sequence Viewer  
  AAD24591 (Get FASTA)   NCBI Sequence Viewer  
  AAF04290 (Get FASTA)   NCBI Sequence Viewer  
  AAH00089 (Get FASTA)   NCBI Sequence Viewer  
  AAH01094 (Get FASTA)   NCBI Sequence Viewer  
  AAH01270 (Get FASTA)   NCBI Sequence Viewer  
  AAH14387 (Get FASTA)   NCBI Sequence Viewer  
  AAH98565 (Get FASTA)   NCBI Sequence Viewer  
  AAQ76799 (Get FASTA)   NCBI Sequence Viewer  
  BAG37838 (Get FASTA)   NCBI Sequence Viewer  
  BAG61213 (Get FASTA)   NCBI Sequence Viewer  
  CAA67970 (Get FASTA)   NCBI Sequence Viewer  
  CAG46884 (Get FASTA)   NCBI Sequence Viewer  
  EAW69227 (Get FASTA)   NCBI Sequence Viewer  
  EAW69228 (Get FASTA)   NCBI Sequence Viewer  
  EAW69229 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000269886
  ENSP00000269886.2
  ENSP00000404568
  ENSP00000404568.2
  ENSP00000469766.1
  ENSP00000470792
  ENSP00000470792.1
  ENSP00000471260.1
  ENSP00000472640.1
GenBank Protein Q99961 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001186872   ⟸   NM_001199943
- Peptide Label: isoform 2
- UniProtKB: Q9UQD4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_003016   ⟸   NM_003025
- Peptide Label: isoform 1
- UniProtKB: M0QZV5 (UniProtKB/Swiss-Prot),   E7EVZ4 (UniProtKB/Swiss-Prot),   B4DRA1 (UniProtKB/Swiss-Prot),   Q99668 (UniProtKB/Swiss-Prot),   Q99961 (UniProtKB/Swiss-Prot),   Q6FGM0 (UniProtKB/TrEMBL),   Q9UQD4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001186873   ⟸   NM_001199944
- Peptide Label: isoform 3
- UniProtKB: Q9UQD4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016882635   ⟸   XM_017027146
- Peptide Label: isoform X1
- UniProtKB: Q9UQD4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000269886   ⟸   ENST00000269886
RefSeq Acc Id: ENSP00000472640   ⟸   ENST00000598219
RefSeq Acc Id: ENSP00000469766   ⟸   ENST00000598230
RefSeq Acc Id: ENSP00000470792   ⟸   ENST00000598564
RefSeq Acc Id: ENSP00000404568   ⟸   ENST00000417295
RefSeq Acc Id: ENSP00000471260   ⟸   ENST00000593591
RefSeq Acc Id: XP_047295178   ⟸   XM_047439222
- Peptide Label: isoform X2
- UniProtKB: Q9UQD4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054177747   ⟸   XM_054321772
- Peptide Label: isoform X2
- UniProtKB: Q9UQD4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054177746   ⟸   XM_054321771
- Peptide Label: isoform X1
- UniProtKB: Q9UQD4 (UniProtKB/TrEMBL)
Protein Domains
BAR   SH3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q99961-F1-model_v2 AlphaFold Q99961 1-368 view protein structure

Promoters
RGD ID:6796035
Promoter ID:HG_KWN:28575
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000269886,   UC002MAK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36194,351,244 - 4,351,744 (-)MPROMDB
RGD ID:7238093
Promoter ID:EPDNEW_H24792
Type:initiation region
Name:SH3GL1_1
Description:SH3 domain containing GRB2 like 1, endophilin A2
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
GRCh38194,400,515 - 4,400,575EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10830 AgrOrtholog
COSMIC SH3GL1 COSMIC
Ensembl Genes ENSG00000141985 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000269886 ENTREZGENE
  ENST00000269886.7 UniProtKB/Swiss-Prot
  ENST00000417295 ENTREZGENE
  ENST00000417295.6 UniProtKB/Swiss-Prot
  ENST00000593591.5 UniProtKB/TrEMBL
  ENST00000598219.1 UniProtKB/TrEMBL
  ENST00000598230.5 UniProtKB/TrEMBL
  ENST00000598564 ENTREZGENE
  ENST00000598564.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1270.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 Domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000141985 GTEx
HGNC ID HGNC:10830 ENTREZGENE
Human Proteome Map SH3GL1 Human Proteome Map
InterPro AH/BAR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BAR_dom 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:6455 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6455 ENTREZGENE
OMIM 601768 OMIM
PANTHER PTHR14167:SF63 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 DOMAIN-CONTAINING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35736 PharmGKB
PRINTS P67PHOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  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 B4DRA1 ENTREZGENE
  E7EVZ4 ENTREZGENE
  M0QYE0_HUMAN UniProtKB/TrEMBL
  M0QZV5 ENTREZGENE
  M0R0I3_HUMAN UniProtKB/TrEMBL
  M0R2K6_HUMAN UniProtKB/TrEMBL
  Q6FGM0 ENTREZGENE, UniProtKB/TrEMBL
  Q99668 ENTREZGENE
  Q99961 ENTREZGENE
  Q9BVL7_HUMAN UniProtKB/TrEMBL
  Q9BWP4_HUMAN UniProtKB/TrEMBL
  Q9UQD4 ENTREZGENE, UniProtKB/TrEMBL
  SH3G1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B4DRA1 UniProtKB/Swiss-Prot
  E7EVZ4 UniProtKB/Swiss-Prot
  M0QZV5 UniProtKB/Swiss-Prot
  Q99668 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-24 SH3GL1  SH3 domain containing GRB2 like 1, endophilin A2    SH3 domain containing GRB2 like 1  Symbol and/or name change 5135510 APPROVED
2016-05-03 SH3GL1  SH3 domain containing GRB2 like 1    SH3-domain GRB2-like 1  Symbol and/or name change 5135510 APPROVED