SH2B2 (SH2B adaptor protein 2) - Rat Genome Database

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Gene: SH2B2 (SH2B adaptor protein 2) Homo sapiens
Analyze
Symbol: SH2B2
Name: SH2B adaptor protein 2
RGD ID: 736917
HGNC Page HGNC:17381
Description: Enables SH2 domain binding activity and signaling adaptor activity. Involved in B cell receptor signaling pathway. Located in cytosol and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: adapter protein with pleckstrin homology and Src homology 2 domains; adaptor protein with pleckstrin homology and src; adaptor protein with pleckstrin homology and src homology 2 domains; APS; SH2 and PH domain-containing adapter protein APS; SH2B adapter protein 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387102,285,141 - 102,321,711 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7102,285,091 - 102,321,711 (+)EnsemblGRCh38hg38GRCh38
GRCh377101,928,432 - 101,962,178 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367101,715,166 - 101,748,898 (+)NCBINCBI36Build 36hg18NCBI36
Build 347101,521,886 - 101,555,612NCBI
Celera796,937,415 - 96,974,023 (+)NCBICelera
Cytogenetic Map7q22.1NCBI
HuRef796,518,618 - 96,555,244 (+)NCBIHuRef
CHM1_17101,856,547 - 101,892,227 (+)NCBICHM1_1
T2T-CHM13v2.07103,602,545 - 103,639,107 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27101,285,864 - 101,322,461 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
actin filament  (IEA)
cytoplasm  (IDA,IEA)
cytosol  (IDA,TAS)
plasma membrane  (IBA,IDA,IEA)
ruffle  (IEA)
stress fiber  (IEA)

Molecular Function

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. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Regulation of insulin receptor function. Youngren JF Cell Mol Life Sci. 2007 Apr;64(7-8):873-91.
Additional References at PubMed
PMID:9233773   PMID:9799793   PMID:9856458   PMID:9989826   PMID:10196204   PMID:10374881   PMID:11751854   PMID:12101115   PMID:12400014   PMID:15031295   PMID:15231829   PMID:15737992  
PMID:15767667   PMID:15946664   PMID:16141217   PMID:16273093   PMID:17548467   PMID:17620296   PMID:18273061   PMID:19293402   PMID:20237496   PMID:21873635   PMID:22199357   PMID:22973453  
PMID:23190452   PMID:24162774   PMID:24728074   PMID:25496667   PMID:25921289   PMID:26186194   PMID:28514442   PMID:29117863   PMID:29778605   PMID:32296183   PMID:33961781   PMID:34079125  
PMID:35384245   PMID:35748872  


Genomics

Comparative Map Data
SH2B2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387102,285,141 - 102,321,711 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7102,285,091 - 102,321,711 (+)EnsemblGRCh38hg38GRCh38
GRCh377101,928,432 - 101,962,178 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367101,715,166 - 101,748,898 (+)NCBINCBI36Build 36hg18NCBI36
Build 347101,521,886 - 101,555,612NCBI
Celera796,937,415 - 96,974,023 (+)NCBICelera
Cytogenetic Map7q22.1NCBI
HuRef796,518,618 - 96,555,244 (+)NCBIHuRef
CHM1_17101,856,547 - 101,892,227 (+)NCBICHM1_1
T2T-CHM13v2.07103,602,545 - 103,639,107 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27101,285,864 - 101,322,461 (+)NCBI
Sh2b2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395136,247,003 - 136,275,446 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5136,247,001 - 136,275,410 (-)EnsemblGRCm39 Ensembl
GRCm385136,218,147 - 136,246,595 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5136,218,147 - 136,246,556 (-)EnsemblGRCm38mm10GRCm38
MGSCv375136,694,019 - 136,720,773 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365136,502,776 - 136,529,530 (-)NCBIMGSCv36mm8
Celera5133,234,728 - 133,261,476 (-)NCBICelera
Cytogenetic Map5G2NCBI
cM Map575.93NCBI
Sh2b2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81226,063,812 - 26,093,468 (+)NCBIGRCr8
mRatBN7.21220,427,057 - 20,456,845 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1220,429,043 - 20,456,844 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1221,568,557 - 21,596,621 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01222,181,267 - 22,209,333 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01221,247,079 - 21,274,830 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01223,471,477 - 23,501,043 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1223,473,270 - 23,501,036 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01225,472,225 - 25,501,387 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41221,544,434 - 21,572,232 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11221,534,314 - 21,562,110 (+)NCBI
Celera1222,198,080 - 22,225,866 (+)NCBICelera
Cytogenetic Map12q12NCBI
Sh2b2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545615,253,856 - 15,265,845 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545615,253,711 - 15,265,874 (-)NCBIChiLan1.0ChiLan1.0
SH2B2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26120,296,202 - 120,333,430 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17168,560,444 - 168,598,044 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0794,425,297 - 94,447,644 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
SH2B2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.167,795,756 - 7,820,010 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl67,795,373 - 7,819,843 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha69,490,633 - 9,514,600 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.067,615,994 - 7,639,944 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl67,615,880 - 7,639,946 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.167,584,419 - 7,605,038 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.067,547,911 - 7,571,843 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.067,711,487 - 7,735,478 (-)NCBIUU_Cfam_GSD_1.0
Sh2b2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344132,215,641 - 132,236,929 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365431,799,568 - 1,822,028 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365431,799,610 - 1,820,889 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SH2B2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl39,670,815 - 9,695,629 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.139,670,838 - 9,695,325 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.239,455,164 - 9,467,362 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SH2B2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12810,862,922 - 10,900,967 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2810,864,188 - 10,883,437 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660705,502,499 - 5,541,690 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sh2b2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474015,266,653 - 15,278,165 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474015,266,759 - 15,289,420 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SH2B2
6 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1 copy number loss See cases [RCV000050924] Chr7:101807149..112414850 [GRCh38]
Chr7:101450429..112054905 [GRCh37]
Chr7:101237149..111842141 [NCBI36]
Chr7:7q22.1-31.1
pathogenic
GRCh38/hg38 7q22.1-22.3(chr7:101525795-105432462)x3 copy number gain See cases [RCV000050705] Chr7:101525795..105432462 [GRCh38]
Chr7:101169076..105072909 [GRCh37]
Chr7:100955796..104860145 [NCBI36]
Chr7:7q22.1-22.3
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1 copy number loss See cases [RCV000054155] Chr7:100419914..102482826 [GRCh38]
Chr7:100017537..102123273 [GRCh37]
Chr7:99855473..101910278 [NCBI36]
Chr7:7q22.1
pathogenic
GRCh38/hg38 7q22.1-22.3(chr7:101700341-105162893)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054156]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054156]|See cases [RCV000054156] Chr7:101700341..105162893 [GRCh38]
Chr7:101343621..104803340 [GRCh37]
Chr7:101130341..104590576 [NCBI36]
Chr7:7q22.1-22.3
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3
pathogenic
GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1 copy number loss See cases [RCV000137522] Chr7:102196924..121278641 [GRCh38]
Chr7:101912320..120918695 [GRCh37]
Chr7:101626924..120705931 [NCBI36]
Chr7:7q22.1-31.31
pathogenic
GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3 copy number gain See cases [RCV000138109] Chr7:99932610..102473188 [GRCh38]
Chr7:99530233..102113635 [GRCh37]
Chr7:99368169..101900640 [NCBI36]
Chr7:7q22.1
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1 copy number loss not provided [RCV000682904] Chr7:98847725..102472176 [GRCh37]
Chr7:7q22.1
pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q22.1(chr7:101722425-101986489)x3 copy number gain not provided [RCV000746943] Chr7:101722425..101986489 [GRCh37]
Chr7:7q22.1
benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1 copy number loss See cases [RCV001195072] Chr7:99593346..102470275 [GRCh37]
Chr7:7q22.1
likely pathogenic
GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160) copy number loss not specified [RCV002053712] Chr7:100676872..119156160 [GRCh37]
Chr7:7q22.1-31.31
pathogenic
GRCh37/hg19 7q22.1(chr7:101729998-102114340)x3 copy number gain not provided [RCV001827739] Chr7:101729998..102114340 [GRCh37]
Chr7:7q22.1
uncertain significance
GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308) copy number loss not specified [RCV002053711] Chr7:99417471..111586308 [GRCh37]
Chr7:7q22.1-31.1
pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3
uncertain significance
NM_001359228.2(SH2B2):c.43C>G (p.Pro15Ala) single nucleotide variant Inborn genetic diseases [RCV002738326] Chr7:102300593 [GRCh38]
Chr7:101943877 [GRCh37]
Chr7:7q22.1
uncertain significance
NM_001359228.2(SH2B2):c.419T>G (p.Met140Arg) single nucleotide variant Inborn genetic diseases [RCV002763582] Chr7:102300969 [GRCh38]
Chr7:101944253 [GRCh37]
Chr7:7q22.1
uncertain significance
GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1 copy number loss not specified [RCV003986701] Chr7:98396469..102108193 [GRCh37]
Chr7:7q22.1
likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1061
Count of miRNA genes:470
Interacting mature miRNAs:521
Transcripts:ENST00000306803, ENST00000432527, ENST00000444095, ENST00000536178
Prediction methods: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
GDB:4585353  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377101,947,271 - 101,947,331UniSTSGRCh37
Build 367101,733,991 - 101,734,051RGDNCBI36
Celera796,956,300 - 96,956,360RGD
Cytogenetic Map7q22UniSTS
HuRef796,537,494 - 96,537,554UniSTS
CRA_TCAGchr7v27101,304,737 - 101,304,797UniSTS
WI-21075  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377101,926,986 - 101,927,248UniSTSGRCh37
Build 367101,713,706 - 101,713,968RGDNCBI36
Celera796,935,995 - 96,936,257RGD
Cytogenetic Map7q22UniSTS
Cytogenetic Map7q22.1UniSTS
HuRef796,517,198 - 96,517,460UniSTS
CRA_TCAGchr7v27101,284,444 - 101,284,706UniSTS
GeneMap99-GB4 RH Map7521.01UniSTS
Whitehead-RH Map7489.5UniSTS
GDB:4585751  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377101,941,163 - 101,941,257UniSTSGRCh37
Build 367101,727,883 - 101,727,977RGDNCBI36
Celera796,950,192 - 96,950,286RGD
Cytogenetic Map7q22UniSTS
HuRef796,531,385 - 96,531,479UniSTS
CRA_TCAGchr7v27101,298,650 - 101,298,744UniSTS
RH44454  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377101,927,092 - 101,927,249UniSTSGRCh37
Build 367101,713,812 - 101,713,969RGDNCBI36
Celera796,936,101 - 96,936,258RGD
Cytogenetic Map7q22UniSTS
Cytogenetic Map7q22.1UniSTS
HuRef796,517,304 - 96,517,461UniSTS
CRA_TCAGchr7v27101,284,550 - 101,284,707UniSTS
GeneMap99-GB4 RH Map7521.01UniSTS


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 170 758 227 13 1675 8 1138 821 643 41 343 523 7 176 870 2
Low 2259 2077 1478 593 248 440 3217 1259 3076 375 1105 1086 163 1028 1917 3
Below cutoff 9 153 19 17 19 17 1 116 9 3 7 3 2 1 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001359228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001359229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001359230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001359231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001393990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001393991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001393992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001393993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001393994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001393995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005276975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005276976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA292710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB000520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC091390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF309652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF434397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI261466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB053166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN995670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY020205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000444095   ⟹   ENSP00000401883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7102,286,868 - 102,321,711 (+)Ensembl
RefSeq Acc Id: ENST00000536178   ⟹   ENSP00000440273
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7102,285,155 - 102,321,711 (+)Ensembl
RefSeq Acc Id: ENST00000617975   ⟹   ENSP00000483034
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7102,285,091 - 102,314,547 (+)Ensembl
RefSeq Acc Id: NM_001359228   ⟹   NP_001346157
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387102,286,868 - 102,321,711 (+)NCBI
T2T-CHM13v2.07103,604,272 - 103,639,107 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001359229   ⟹   NP_001346158
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387102,289,466 - 102,321,711 (+)NCBI
T2T-CHM13v2.07103,606,869 - 103,639,107 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001359230   ⟹   NP_001346159
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387102,286,868 - 102,321,711 (+)NCBI
T2T-CHM13v2.07103,604,272 - 103,639,107 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001359231   ⟹   NP_001346160
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387102,289,466 - 102,321,711 (+)NCBI
T2T-CHM13v2.07103,606,869 - 103,639,107 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001393990   ⟹   NP_001380919
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387102,285,141 - 102,321,711 (+)NCBI
T2T-CHM13v2.07103,602,545 - 103,639,107 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001393991   ⟹   NP_001380920
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387102,285,141 - 102,321,711 (+)NCBI
T2T-CHM13v2.07103,602,545 - 103,639,107 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001393992   ⟹   NP_001380921
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387102,285,141 - 102,321,711 (+)NCBI
T2T-CHM13v2.07103,602,545 - 103,639,107 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001393993   ⟹   NP_001380922
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387102,286,868 - 102,321,711 (+)NCBI
T2T-CHM13v2.07103,604,272 - 103,639,107 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001393994   ⟹   NP_001380923
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387102,289,466 - 102,321,711 (+)NCBI
T2T-CHM13v2.07103,606,869 - 103,639,107 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001393995   ⟹   NP_001380924
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387102,285,141 - 102,321,711 (+)NCBI
T2T-CHM13v2.07103,602,545 - 103,639,107 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001394426   ⟹   NP_001381355
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387102,285,141 - 102,321,711 (+)NCBI
T2T-CHM13v2.07103,602,545 - 103,639,107 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047419779   ⟹   XP_047275735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387102,287,661 - 102,321,711 (+)NCBI
RefSeq Acc Id: XM_047419780   ⟹   XP_047275736
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387102,286,868 - 102,321,711 (+)NCBI
RefSeq Acc Id: XM_047419781   ⟹   XP_047275737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387102,308,916 - 102,321,711 (+)NCBI
RefSeq Acc Id: XM_054357094   ⟹   XP_054213069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07103,605,064 - 103,639,107 (+)NCBI
RefSeq Acc Id: XM_054357095   ⟹   XP_054213070
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07103,604,272 - 103,639,107 (+)NCBI
RefSeq Acc Id: NP_001346157   ⟸   NM_001359228
- Peptide Label: isoform 2
- UniProtKB: O14492 (UniProtKB/Swiss-Prot),   A0A0A0MTI2 (UniProtKB/Swiss-Prot),   A6ND74 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001346159   ⟸   NM_001359230
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001346158   ⟸   NM_001359229
- Peptide Label: isoform 2
- UniProtKB: O14492 (UniProtKB/Swiss-Prot),   A0A0A0MTI2 (UniProtKB/Swiss-Prot),   A6ND74 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001346160   ⟸   NM_001359231
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: ENSP00000440273   ⟸   ENST00000536178
RefSeq Acc Id: ENSP00000401883   ⟸   ENST00000444095
RefSeq Acc Id: ENSP00000483034   ⟸   ENST00000617975
RefSeq Acc Id: NP_001381355   ⟸   NM_001394426
- Peptide Label: isoform 2
- UniProtKB: O14492 (UniProtKB/Swiss-Prot),   A0A0A0MTI2 (UniProtKB/Swiss-Prot),   A6ND74 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001380919   ⟸   NM_001393990
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001380920   ⟸   NM_001393991
- Peptide Label: isoform 2
- UniProtKB: O14492 (UniProtKB/Swiss-Prot),   A0A0A0MTI2 (UniProtKB/Swiss-Prot),   A6ND74 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001380921   ⟸   NM_001393992
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001380924   ⟸   NM_001393995
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001380922   ⟸   NM_001393993
- Peptide Label: isoform 2
- UniProtKB: O14492 (UniProtKB/Swiss-Prot),   A0A0A0MTI2 (UniProtKB/Swiss-Prot),   A6ND74 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001380923   ⟸   NM_001393994
- Peptide Label: isoform 2
- UniProtKB: O14492 (UniProtKB/Swiss-Prot),   A0A0A0MTI2 (UniProtKB/Swiss-Prot),   A6ND74 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047275736   ⟸   XM_047419780
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047275735   ⟸   XM_047419779
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047275737   ⟸   XM_047419781
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054213070   ⟸   XM_054357095
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054213069   ⟸   XM_054357094
- Peptide Label: isoform X1
Protein Domains
PH   Phenylalanine zipper   SH2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O14492-F1-model_v2 AlphaFold O14492 1-632 view protein structure

Promoters
RGD ID:6806183
Promoter ID:HG_KWN:59056
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:ENST00000306803,   NM_020979,   OTTHUMT00000319407,   UC003UZA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 367101,714,941 - 101,715,441 (+)MPROMDB
RGD ID:6813282
Promoter ID:HG_ACW:73695
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:SH2B2.EAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 367101,716,539 - 101,717,039 (+)MPROMDB
RGD ID:6806184
Promoter ID:HG_KWN:59057
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000319408
Position:
Human AssemblyChrPosition (strand)Source
Build 367101,744,459 - 101,744,959 (+)MPROMDB
RGD ID:7211479
Promoter ID:EPDNEW_H11485
Type:initiation region
Name:SH2B2_1
Description:SH2B adaptor protein 2
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
GRCh387102,285,141 - 102,285,201EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17381 AgrOrtholog
COSMIC SH2B2 COSMIC
Ensembl Genes ENSG00000160999 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000444095 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000444095.3 UniProtKB/Swiss-Prot
  ENST00000536178 ENTREZGENE
  ENST00000536178.3 UniProtKB/Swiss-Prot
  ENST00000617975.2 UniProtKB/TrEMBL
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.505.10 UniProtKB/Swiss-Prot
  6.10.140.110 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000160999 GTEx
HGNC ID HGNC:17381 ENTREZGENE
Human Proteome Map SH2B2 Human Proteome Map
InterPro PH-like_dom_sf UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
  Phe_ZIP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Phe_ZIP_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pleckstrin_homology UniProtKB/Swiss-Prot
  SH2 UniProtKB/Swiss-Prot
  SH2_dom_sf UniProtKB/Swiss-Prot
  SH2B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2B2_SH2 UniProtKB/Swiss-Prot
NCBI Gene 10603 ENTREZGENE
OMIM 605300 OMIM
PANTHER PTHR10872 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10872:SF4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PF00169 UniProtKB/Swiss-Prot
  Phe_ZIP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot
PharmGKB PA145148106 PharmGKB
PRINTS SH2DOMAIN UniProtKB/Swiss-Prot
PROSITE PH_DOMAIN UniProtKB/Swiss-Prot
  SH2 UniProtKB/Swiss-Prot
SMART SH2 UniProtKB/Swiss-Prot
  SM00233 UniProtKB/Swiss-Prot
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Phe_ZIP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55550 UniProtKB/Swiss-Prot
UniProt A0A087X016_HUMAN UniProtKB/TrEMBL
  A0A0A0MTI2 ENTREZGENE
  A6ND74 ENTREZGENE
  C9JK89_HUMAN UniProtKB/TrEMBL
  O14492 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A0A0A0MTI2 UniProtKB/Swiss-Prot
  A6ND74 UniProtKB/Swiss-Prot