INSYN2B (inhibitory synaptic factor family member 2B) - Rat Genome Database

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Gene: INSYN2B (inhibitory synaptic factor family member 2B) Homo sapiens
Analyze
Symbol: INSYN2B
Name: inhibitory synaptic factor family member 2B
RGD ID: 3497372
HGNC Page HGNC:37271
Description: Predicted to be involved in inhibitory postsynaptic potential. Predicted to be active in postsynaptic density; INTERACTS WITH 2,2',5,5'-tetrachlorobiphenyl; 2-palmitoylglycerol; aristolochic acid A.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C5orf57; FAM196B; family with sequence similarity 196 member B; family with sequence similarity 196, member B; hypothetical protein LOC100131897; Uncharacterized protein LOC100131897
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
GRCh385169,861,303 - 169,980,495 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5169,861,303 - 169,980,495 (-)EnsemblGRCh38hg38GRCh38
GRCh375169,288,307 - 169,407,499 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365169,223,297 - 169,340,322 (-)NCBINCBI36Build 36hg18NCBI36
Celera5165,322,310 - 165,439,373 (-)NCBICelera
Cytogenetic Map5q35.1NCBI
HuRef5164,388,897 - 164,505,800 (-)NCBIHuRef
CHM1_15168,723,110 - 168,840,179 (-)NCBICHM1_1
T2T-CHM13v2.05170,396,711 - 170,518,930 (-)NCBIT2T-CHM13v2.0
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

Biological Process

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:14702039   PMID:15372022   PMID:20379614   PMID:21873635   PMID:24927181   PMID:30745168  


Genomics

Comparative Map Data
INSYN2B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385169,861,303 - 169,980,495 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5169,861,303 - 169,980,495 (-)EnsemblGRCh38hg38GRCh38
GRCh375169,288,307 - 169,407,499 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365169,223,297 - 169,340,322 (-)NCBINCBI36Build 36hg18NCBI36
Celera5165,322,310 - 165,439,373 (-)NCBICelera
Cytogenetic Map5q35.1NCBI
HuRef5164,388,897 - 164,505,800 (-)NCBIHuRef
CHM1_15168,723,110 - 168,840,179 (-)NCBICHM1_1
T2T-CHM13v2.05170,396,711 - 170,518,930 (-)NCBIT2T-CHM13v2.0
Insyn2b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391134,264,822 - 34,372,642 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1134,264,758 - 34,372,640 (+)EnsemblGRCm39 Ensembl
GRCm381134,314,822 - 34,422,642 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1134,314,758 - 34,422,640 (+)EnsemblGRCm38mm10GRCm38
MGSCv371134,214,822 - 34,322,640 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361134,214,822 - 34,322,640 (+)NCBIMGSCv36mm8
Celera1136,726,207 - 36,834,375 (+)NCBICelera
Cytogenetic Map11A4NCBI
cM Map1119.72NCBI
Insyn2b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81019,420,561 - 19,528,006 (+)NCBIGRCr8
mRatBN7.21018,916,721 - 19,023,859 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1019,003,131 - 19,022,139 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01019,270,956 - 19,392,214 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1019,366,793 - 19,368,532 (+)NCBIRnor6.0rn6Rnor6.0
Rnor_5.01019,149,321 - 19,265,167 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41019,383,104 - 19,401,226 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1018,549,000 - 18,660,453 (+)NCBICelera
Cytogenetic Map10q12NCBI
Insyn2b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540822,841,584 - 22,863,256 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540822,842,645 - 22,864,156 (-)NCBIChiLan1.0ChiLan1.0
INSYN2B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24165,024,830 - 165,143,499 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15163,164,374 - 163,283,055 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05165,227,463 - 165,346,288 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15171,987,796 - 172,105,936 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5171,988,980 - 172,009,754 (-)Ensemblpanpan1.1panPan2
INSYN2B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1441,871,751 - 41,987,310 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl441,964,892 - 42,024,748 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha441,824,091 - 41,939,533 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0442,248,028 - 42,399,305 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl442,248,073 - 42,442,172 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1442,065,489 - 42,180,888 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0442,251,962 - 42,367,449 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0442,762,931 - 42,878,508 (+)NCBIUU_Cfam_GSD_1.0
Insyn2b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721396,079,657 - 96,189,263 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366094,890,470 - 4,911,947 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366094,802,587 - 4,911,945 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
INSYN2B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1653,941,568 - 54,057,671 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11653,939,487 - 54,057,671 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21658,457,046 - 58,507,714 (+)NCBISscrofa10.2Sscrofa10.2susScr3
INSYN2B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12372,078,442 - 72,197,715 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2372,080,294 - 72,100,012 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660346,464,019 - 6,584,554 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Insyn2b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473320,076,826 - 20,100,153 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473319,982,815 - 20,099,782 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in INSYN2B
12 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 copy number gain See cases [RCV000051863] Chr5:149714592..181272151 [GRCh38]
Chr5:149094155..180699152 [GRCh37]
Chr5:149074348..180631758 [NCBI36]
Chr5:5q32-35.3
pathogenic
GRCh38/hg38 5q33.3-35.3(chr5:160029980-181269805)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|See cases [RCV000051865] Chr5:160029980..181269805 [GRCh38]
Chr5:159456987..180696806 [GRCh37]
Chr5:159389565..180629412 [NCBI36]
Chr5:5q33.3-35.3
pathogenic
GRCh38/hg38 5q34-35.3(chr5:168689326-181269946)x3 copy number gain See cases [RCV000051866] Chr5:168689326..181269946 [GRCh38]
Chr5:168116331..180696947 [GRCh37]
Chr5:168048909..180629553 [NCBI36]
Chr5:5q34-35.3
pathogenic
GRCh38/hg38 5q34-35.1(chr5:166371405-171390034)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052148]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052148]|See cases [RCV000052148] Chr5:166371405..171390034 [GRCh38]
Chr5:165798410..170817038 [GRCh37]
Chr5:165730988..170749643 [NCBI36]
Chr5:5q34-35.1
pathogenic
NM_001129891.1(FAM196B):c.-918-40072A>G single nucleotide variant Lung cancer [RCV000095557] Chr5:169924888 [GRCh38]
Chr5:169351892 [GRCh37]
Chr5:5q35.1
uncertain significance
GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3 copy number gain See cases [RCV000133847] Chr5:156825512..181269805 [GRCh38]
Chr5:156252523..180696806 [GRCh37]
Chr5:156185101..180629412 [NCBI36]
Chr5:5q33.3-35.3
pathogenic
GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3 copy number gain See cases [RCV000135546] Chr5:164386701..181269805 [GRCh38]
Chr5:163813707..180696806 [GRCh37]
Chr5:163746285..180629412 [NCBI36]
Chr5:5q34-35.3
pathogenic
GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3 copy number gain See cases [RCV000141249] Chr5:169334755..181285301 [GRCh38]
Chr5:168761759..180712302 [GRCh37]
Chr5:168694337..180644908 [NCBI36]
Chr5:5q35.1-35.3
pathogenic
GRCh38/hg38 5q34-35.1(chr5:168433412-171417179)x1 copy number loss See cases [RCV000140907] Chr5:168433412..171417179 [GRCh38]
Chr5:167860417..170844183 [GRCh37]
Chr5:167792995..170776788 [NCBI36]
Chr5:5q34-35.1
uncertain significance
GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)x1 copy number loss See cases [RCV000240059] Chr5:154886174..169757448 [GRCh37]
Chr5:5q33.2-35.1
pathogenic
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3
likely benign
GRCh37/hg19 5q34-35.1(chr5:164207156-172799124)x1 copy number loss See cases [RCV000447112] Chr5:164207156..172799124 [GRCh37]
Chr5:5q34-35.1
pathogenic
GRCh37/hg19 5q35.1(chr5:169141203-169714174)x3 copy number gain See cases [RCV000447212] Chr5:169141203..169714174 [GRCh37]
Chr5:5q35.1
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3
pathogenic
GRCh37/hg19 5q35.1(chr5:169220145-169453802)x1 copy number loss See cases [RCV000447819] Chr5:169220145..169453802 [GRCh37]
Chr5:5q35.1
uncertain significance
GRCh37/hg19 5q35.1(chr5:168955293-170432136)x1 copy number loss See cases [RCV000511893] Chr5:168955293..170432136 [GRCh37]
Chr5:5q35.1
uncertain significance
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_001129891.3(INSYN2B):c.485G>A (p.Arg162Gln) single nucleotide variant Inborn genetic diseases [RCV003277273] Chr5:169883414 [GRCh38]
Chr5:169310418 [GRCh37]
Chr5:5q35.1
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q33.2-35.3(chr5:155344802-180693344)x3 copy number gain not provided [RCV000745284] Chr5:155344802..180693344 [GRCh37]
Chr5:5q33.2-35.3
pathogenic
GRCh37/hg19 5q35.1(chr5:169353466-169508461)x3 copy number gain not provided [RCV000745328] Chr5:169353466..169508461 [GRCh37]
Chr5:5q35.1
benign
NM_001129891.3(INSYN2B):c.496G>C (p.Val166Leu) single nucleotide variant not provided [RCV000951079] Chr5:169883403 [GRCh38]
Chr5:169310407 [GRCh37]
Chr5:5q35.1
benign|likely benign
GRCh37/hg19 5q32-35.3(chr5:149010383-180719789) copy number gain Hunter-McAlpine craniosynostosis [RCV002280612] Chr5:149010383..180719789 [GRCh37]
Chr5:5q32-35.3
pathogenic
GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1 copy number loss not provided [RCV001005746] Chr5:156347980..169959880 [GRCh37]
Chr5:5q33.3-35.1
pathogenic
GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1 copy number loss Atrial septal defect 7 [RCV000853560] Chr5:166421173..173324843 [GRCh37]
Chr5:5q34-35.2
pathogenic
GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3 copy number gain not provided [RCV000845588] Chr5:156597181..171166353 [GRCh37]
Chr5:5q33.3-35.1
pathogenic
NM_001129891.3(INSYN2B):c.659C>T (p.Ala220Val) single nucleotide variant Inborn genetic diseases [RCV003239685] Chr5:169883240 [GRCh38]
Chr5:169310244 [GRCh37]
Chr5:5q35.1
uncertain significance
NM_001129891.3(INSYN2B):c.1089C>T (p.Thr363=) single nucleotide variant not provided [RCV000952523] Chr5:169882810 [GRCh38]
Chr5:169309814 [GRCh37]
Chr5:5q35.1
benign|likely benign
GRCh37/hg19 5q34-35.1(chr5:166378793-170174830)x1 copy number loss not provided [RCV001259927] Chr5:166378793..170174830 [GRCh37]
Chr5:5q34-35.1
likely pathogenic
NM_001129891.3(INSYN2B):c.841C>T (p.Pro281Ser) single nucleotide variant DOCK2 deficiency [RCV001336757] Chr5:169883058 [GRCh38]
Chr5:169310062 [GRCh37]
Chr5:5q35.1
uncertain significance
NC_000005.9:g.(?_169064311)_(170245847_?)dup duplication DOCK2 deficiency [RCV001372340] Chr5:169064311..170245847 [GRCh37]
Chr5:5q35.1
uncertain significance
GRCh37/hg19 5q34-35.1(chr5:164207156-172799124) copy number loss not specified [RCV002053537] Chr5:164207156..172799124 [GRCh37]
Chr5:5q34-35.1
pathogenic
NC_000005.9:g.(?_167849013)_(169661202_?)del deletion DOCK2 deficiency [RCV003113614] Chr5:167849013..169661202 [GRCh37]
Chr5:5q34-35.1
pathogenic
GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3 copy number gain not provided [RCV002474507] Chr5:150535183..172906793 [GRCh37]
Chr5:5q33.1-35.2
pathogenic
NM_001129891.3(INSYN2B):c.1278C>A (p.Asn426Lys) single nucleotide variant Inborn genetic diseases [RCV003207418] Chr5:169882621 [GRCh38]
Chr5:169309625 [GRCh37]
Chr5:5q35.1
uncertain significance
NM_001129891.3(INSYN2B):c.1141T>A (p.Ser381Thr) single nucleotide variant Inborn genetic diseases [RCV003262074] Chr5:169882758 [GRCh38]
Chr5:169309762 [GRCh37]
Chr5:5q35.1
uncertain significance
NM_001129891.3(INSYN2B):c.185C>T (p.Pro62Leu) single nucleotide variant Inborn genetic diseases [RCV003342832] Chr5:169883714 [GRCh38]
Chr5:169310718 [GRCh37]
Chr5:5q35.1
likely benign
NM_001129891.3(INSYN2B):c.631A>G (p.Ser211Gly) single nucleotide variant Inborn genetic diseases [RCV003350460] Chr5:169883268 [GRCh38]
Chr5:169310272 [GRCh37]
Chr5:5q35.1
uncertain significance
NM_001129891.3(INSYN2B):c.-919+45686T>C single nucleotide variant not specified [RCV003488838] Chr5:169934591 [GRCh38]
Chr5:169361595 [GRCh37]
Chr5:5q35.1
benign
NM_001129891.3(INSYN2B):c.1216C>T (p.Arg406Trp) single nucleotide variant not provided [RCV003428714] Chr5:169882683 [GRCh38]
Chr5:169309687 [GRCh37]
Chr5:5q35.1
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:486
Count of miRNA genes:395
Interacting mature miRNAs:423
Transcripts:ENST00000377365, ENST00000523970
Prediction methods: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.

Markers in Region
SHGC-84601  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375169,315,222 - 169,315,524UniSTSGRCh37
Build 365169,247,800 - 169,248,102RGDNCBI36
Celera5165,346,840 - 165,347,142RGD
Cytogenetic Map5q35.1UniSTS
HuRef5164,413,404 - 164,413,706UniSTS
TNG Radiation Hybrid Map579608.0UniSTS
bac51192T  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375169,355,711 - 169,355,878UniSTSGRCh37
Build 365169,288,289 - 169,288,456RGDNCBI36
Celera5165,387,325 - 165,387,492RGD
Cytogenetic Map5q35.1UniSTS
HuRef5164,453,743 - 164,453,910UniSTS
SHGC-78709  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375169,347,832 - 169,348,115UniSTSGRCh37
Build 365169,280,410 - 169,280,693RGDNCBI36
Celera5165,379,449 - 165,379,732RGD
Cytogenetic Map5q35.1UniSTS
HuRef5164,445,872 - 164,446,155UniSTS
TNG Radiation Hybrid Map579616.0UniSTS
RH45919  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375169,302,751 - 169,302,881UniSTSGRCh37
Build 365169,235,329 - 169,235,459RGDNCBI36
Celera5165,334,369 - 165,334,499RGD
Cytogenetic Map5q35.1UniSTS
HuRef5164,400,933 - 164,401,063UniSTS
GeneMap99-GB4 RH Map5628.4UniSTS
NCBI RH Map5973.0UniSTS
D5S1713  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q35.1UniSTS
HuRef5164,497,578 - 164,497,769UniSTS


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 4 7 2 1 2 16 16 43 20 16 27
Low 57 188 264 111 424 18 536 29 2088 132 294 317 101 1 362 285 2
Below cutoff 1598 2180 1152 321 1263 255 2783 1059 1561 180 966 1034 71 802 1644 1

Sequence


RefSeq Acc Id: ENST00000377365   ⟹   ENSP00000366582
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5169,861,303 - 169,980,495 (-)Ensembl
RefSeq Acc Id: ENST00000523970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5169,884,375 - 169,980,448 (-)Ensembl
RefSeq Acc Id: NM_001129891   ⟹   NP_001123363
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385169,861,303 - 169,980,495 (-)NCBI
GRCh375169,290,719 - 169,407,744 (-)RGD
Celera5165,322,310 - 165,439,373 (-)RGD
HuRef5164,388,897 - 164,505,800 (-)ENTREZGENE
CHM1_15168,723,110 - 168,840,179 (-)NCBI
T2T-CHM13v2.05170,396,711 - 170,518,930 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001346304   ⟹   NP_001333233
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385169,861,303 - 169,980,495 (-)NCBI
T2T-CHM13v2.05170,396,711 - 170,518,930 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017008908   ⟹   XP_016864397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385169,861,303 - 169,980,495 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047416585   ⟹   XP_047272541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385169,861,303 - 169,980,495 (-)NCBI
RefSeq Acc Id: XM_054351372   ⟹   XP_054207347
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05170,396,711 - 170,518,930 (-)NCBI
RefSeq Acc Id: XM_054351373   ⟹   XP_054207348
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05170,396,711 - 170,518,930 (-)NCBI
RefSeq Acc Id: NP_001123363   ⟸   NM_001129891
- UniProtKB: A6NMK8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016864397   ⟸   XM_017008908
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001333233   ⟸   NM_001346304
- UniProtKB: A6NMK8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000366582   ⟸   ENST00000377365
RefSeq Acc Id: XP_047272541   ⟸   XM_047416585
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054207348   ⟸   XM_054351373
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054207347   ⟸   XM_054351372
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A6NMK8-F1-model_v2 AlphaFold A6NMK8 1-535 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:37271 AgrOrtholog
COSMIC INSYN2B COSMIC
Ensembl Genes ENSG00000204767 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000377365 ENTREZGENE
  ENST00000377365.4 UniProtKB/Swiss-Prot
GTEx ENSG00000204767 GTEx
HGNC ID HGNC:37271 ENTREZGENE
Human Proteome Map INSYN2B Human Proteome Map
InterPro INSYN2 UniProtKB/Swiss-Prot
KEGG Report hsa:100131897 UniProtKB/Swiss-Prot
NCBI Gene 100131897 ENTREZGENE
PANTHER PROTEIN INSYN2B UniProtKB/Swiss-Prot
  PTHR28682 UniProtKB/Swiss-Prot
Pfam FAM196 UniProtKB/Swiss-Prot
PharmGKB PA165660363 PharmGKB
UniProt A6NMK8 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-29 INSYN2B  inhibitory synaptic factor family member 2B  FAM196B  family with sequence similarity 196 member B  Symbol and/or name change 5135510 APPROVED
2015-11-24 FAM196B  family with sequence similarity 196 member B    family with sequence similarity 196, member B  Symbol and/or name change 5135510 APPROVED