DOC2B (double C2 domain beta) - Rat Genome Database
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Gene: DOC2B (double C2 domain beta) Homo sapiens
Analyze
Symbol: DOC2B
Name: double C2 domain beta
RGD ID: 732162
HGNC Page HGNC
Description: Predicted to have calcium-dependent phospholipid binding activity. Predicted to be involved in calcium ion-regulated exocytosis of neurotransmitter; positive regulation of transport; and protein localization. Predicted to colocalize with SNARE complex.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: doc2-beta; DOC2BL; double C2-like domain-containing protein beta; double C2-like domains, beta; double C2-like domains, beta-like
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 Ensembl17142,789 - 181,650 (-)EnsemblGRCh38hg38GRCh38
GRCh3817142,789 - 181,650 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37176,009 - 31,421 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36175,810 - 31,270 (-)NCBINCBI36hg18NCBI36
Celera1796,907 - 129,072 (-)NCBI
Cytogenetic Map17p13.3NCBI
HuRef1715,749 - 39,198 (-)NCBIHuRef
CHM1_11716,004 - 40,168 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7826360   PMID:8554557   PMID:8889548   PMID:8902635   PMID:9115738   PMID:9195900   PMID:9804756   PMID:10488064   PMID:12621583   PMID:18029348   PMID:20379614   PMID:21502085  
PMID:22036572   PMID:24570007   PMID:26186194   PMID:27434670   PMID:28514442   PMID:29506054  


Genomics

Comparative Map Data
DOC2B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl17142,789 - 181,650 (-)EnsemblGRCh38hg38GRCh38
GRCh3817142,789 - 181,650 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37176,009 - 31,421 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36175,810 - 31,270 (-)NCBINCBI36hg18NCBI36
Celera1796,907 - 129,072 (-)NCBI
Cytogenetic Map17p13.3NCBI
HuRef1715,749 - 39,198 (-)NCBIHuRef
CHM1_11716,004 - 40,168 (-)NCBICHM1_1
Doc2b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391175,659,096 - 75,686,886 (-)NCBIGRCm39mm39
GRCm381175,768,270 - 75,796,060 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1175,768,966 - 75,796,049 (-)EnsemblGRCm38mm10GRCm38
MGSCv371175,582,592 - 75,609,559 (-)NCBIGRCm37mm9NCBIm37
MGSCv361175,585,285 - 75,612,252 (-)NCBImm8
Celera1183,278,304 - 83,305,458 (-)NCBICelera
Cytogenetic Map11B5NCBI
Doc2b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01063,921,255 - 63,952,944 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1063,928,064 - 63,952,726 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01064,053,913 - 64,078,844 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41063,115,782 - 63,140,805 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11063,129,404 - 63,154,428 (-)NCBI
Celera1059,653,415 - 59,678,192 (-)NCBICelera
Cytogenetic Map10q24NCBI
Doc2b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554811,842,815 - 1,860,374 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554811,839,894 - 1,859,733 (-)NCBIChiLan1.0ChiLan1.0
DOC2B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11780,050 - 123,659 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v01719,854 - 58,336 (-)NCBIMhudiblu_PPA_v0panPan3
DOC2B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl945,450,302 - 45,485,247 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1945,450,270 - 45,488,638 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Doc2b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365387,461,030 - 7,486,648 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DOC2B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1247,529,566 - 47,562,373 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11247,529,383 - 47,558,236 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
DOC2B
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11617,890 - 51,080 (-)NCBI
ChlSab1.1 Ensembl1619,294 - 49,309 (-)Ensembl
Doc2b
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247864,029,384 - 4,060,676 (+)NCBI

Position Markers
STS-D70830  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera1797,057 - 97,251RGD
Cytogenetic Map17p13.3UniSTS
HuRef1715,902 - 16,096UniSTS
GeneMap99-GB4 RH Map1718.53UniSTS
RH80768  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera1797,281 - 97,529RGD
Cytogenetic Map17p13.3UniSTS
HuRef1716,126 - 16,374UniSTS
GeneMap99-GB4 RH Map1722.57UniSTS
SHGC-145783  
Human AssemblyChrPosition (strand)SourceJBrowse
Build 361755,330 - 55,675RGDNCBI36
Celera17153,145 - 153,491RGD
Cytogenetic Map17p13.3UniSTS
HuRef1773,906 - 74,251UniSTS
TNG Radiation Hybrid Map173.0UniSTS
D17S2199  
Human AssemblyChrPosition (strand)SourceJBrowse
Build 36179,568 - 9,758RGDNCBI36
Celera17109,952 - 110,142RGD
Cytogenetic Map17p13.3UniSTS
HuRef1728,684 - 28,874UniSTS
GeneMap99-GB4 RH Map1720.14UniSTS
Whitehead-RH Map1714.8UniSTS
D17S2197  
Human AssemblyChrPosition (strand)SourceJBrowse
Build 36179,561 - 9,757RGDNCBI36
Celera17109,945 - 110,141RGD
Cytogenetic Map17p13.3UniSTS
HuRef1728,677 - 28,873UniSTS
Whitehead-RH Map1719.1UniSTS
NCBI RH Map1740.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:437
Count of miRNA genes:374
Interacting mature miRNAs:406
Transcripts:ENST00000343572, ENST00000609727
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.


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 508 186 319 8 77 2 1379 287 2456 68 281 241 7 1121 585
Low 1819 2239 1073 309 750 154 2823 1858 1191 248 1019 1221 161 83 2150 2
Below cutoff 66 549 291 275 709 276 92 29 34 81 113 95 1 53 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_942189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_942190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC108004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC129894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC240565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF240580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI478508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM713588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D70830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN831650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000343572
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl17156,019 - 162,172 (-)Ensembl
RefSeq Acc Id: ENST00000609727
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl17163,540 - 181,170 (-)Ensembl
RefSeq Acc Id: ENST00000613549   ⟹   ENSP00000482950
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl17142,789 - 181,650 (-)Ensembl
RefSeq Acc Id: NM_003585   ⟹   NP_003576
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3817142,789 - 181,650 (-)NCBI
GRCh37176,009 - 31,421 (-)NCBI
Celera1796,907 - 129,072 (-)RGD
HuRef1715,749 - 39,198 (-)NCBI
CHM1_11716,004 - 40,168 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011535363   ⟹   XP_011533665
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3817146,931 - 181,521 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017025227   ⟹   XP_016880716
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3817160,203 - 181,524 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001752664
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3817147,304 - 181,523 (-)NCBI
Sequence:
RefSeq Acc Id: XR_942189
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3817149,110 - 181,523 (-)NCBI
Sequence:
RefSeq Acc Id: XR_942190
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3817151,232 - 181,523 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_003576 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533665 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880716 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein BAA11107 (Get FASTA)   NCBI Sequence Viewer  
  EAW90677 (Get FASTA)   NCBI Sequence Viewer  
  Q14184 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_003576   ⟸   NM_003585
- UniProtKB: Q14184 (UniProtKB/Swiss-Prot),   A0A087WZX8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011533665   ⟸   XM_011535363
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016880716   ⟸   XM_017025227
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000482950   ⟸   ENST00000613549
Protein Domains
C2

Promoters
RGD ID:7233213
Promoter ID:EPDNEW_H22352
Type:initiation region
Name:DOC2B_2
Description:double C2 domain beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22353  EPDNEW_H22354  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3817181,531 - 181,591EPDNEW
RGD ID:7233215
Promoter ID:EPDNEW_H22353
Type:initiation region
Name:DOC2B_1
Description:double C2 domain beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22352  EPDNEW_H22354  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3817181,650 - 181,710EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1 copy number loss See cases [RCV000134135] Chr17:162088..6959050 [GRCh38]
Chr17:45835..6862369 [GRCh37]
Chr17:11879..6803093 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.3(chr17:162016-1682817)x3 copy number gain See cases [RCV000138202] Chr17:162016..1682817 [GRCh38]
Chr17:45835..1586111 [GRCh37]
Chr17:11807..1532861 [NCBI36]
Chr17:17p13.3
likely pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 copy number loss See cases [RCV000138214] Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.3(chr17:162016-1904358)x1 copy number loss See cases [RCV000137940] Chr17:162016..1904358 [GRCh38]
Chr17:45835..1807652 [GRCh37]
Chr17:11807..1754402 [NCBI36]
Chr17:17p13.3
likely pathogenic
GRCh38/hg38 17p13.3(chr17:162016-2099130)x1 copy number loss See cases [RCV000138246] Chr17:162016..2099130 [GRCh38]
Chr17:45835..2002424 [GRCh37]
Chr17:11807..1949174 [NCBI36]
Chr17:17p13.3
likely pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12
pathogenic
GRCh38/hg38 17p13.3(chr17:179378-813490)x1 copy number loss See cases [RCV000141365] Chr17:179378..813490 [GRCh38]
Chr17:29169..716730 [GRCh37]
Chr17:29169..663480 [NCBI36]
Chr17:17p13.3
uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1 copy number loss See cases [RCV000141658] Chr17:150732..5935377 [GRCh38]
Chr17:525..5838697 [GRCh37]
Chr17:525..5779421 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3(chr17:150732-3242868)x1 copy number loss See cases [RCV000142323] Chr17:150732..3242868 [GRCh38]
Chr17:525..3146162 [GRCh37]
Chr17:525..3092912 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12
pathogenic
GRCh38/hg38 17p13.3(chr17:162094-264878)x1 copy number loss Premature ovarian failure [RCV000225244] Chr17:162094..264878 [GRCh38]
Chr17:11885..114669 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3(chr17:6160-264204)x3 copy number gain See cases [RCV000449127] Chr17:6160..264204 [GRCh37]
Chr17:17p13.3
benign
GRCh37/hg19 17p13.3(chr17:6160-436910)x3 copy number gain See cases [RCV000446212] Chr17:6160..436910 [GRCh37]
Chr17:17p13.3
likely benign
GRCh37/hg19 17p13.3(chr17:525-454039)x3 copy number gain See cases [RCV000446904] Chr17:525..454039 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3(chr17:525-2518160)x1 copy number loss See cases [RCV000446045] Chr17:525..2518160 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:6160-1114083)x1 copy number loss See cases [RCV000446658] Chr17:6160..1114083 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3(chr17:525-1874153)x3 copy number gain See cases [RCV000445687] Chr17:525..1874153 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:525-2092064)x1 copy number loss See cases [RCV000445813] Chr17:525..2092064 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:6160-919381)x1 copy number loss See cases [RCV000447992] Chr17:6160..919381 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3(chr17:525-2891302)x1 copy number loss See cases [RCV000447687] Chr17:525..2891302 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:6160-2002365) copy number gain See cases [RCV000448685] Chr17:6160..2002365 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:525-2363548)x1 copy number loss See cases [RCV000448774] Chr17:525..2363548 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:525-2750745)x1 copy number loss See cases [RCV000510381] Chr17:525..2750745 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:525-632905)x3 copy number gain See cases [RCV000510587] Chr17:525..632905 [GRCh37]
Chr17:17p13.3
conflicting data from submitters
GRCh37/hg19 17p13.3-13.2(chr17:525-3825428)x1 copy number loss See cases [RCV000511508] Chr17:525..3825428 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3(chr17:525-1968434)x1 copy number loss See cases [RCV000511558] Chr17:525..1968434 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:10622-1511353)x1 copy number loss See cases [RCV000512031] Chr17:10622..1511353 [GRCh37]
Chr17:17p13.3
likely pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:525-4151421)x3 copy number gain See cases [RCV000512413] Chr17:525..4151421 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3(chr17:525-2264023)x1 copy number loss See cases [RCV000512467] Chr17:525..2264023 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3(chr17:525-447663)x3 copy number gain not provided [RCV000683863] Chr17:525..447663 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3(chr17:525-880983)x1 copy number loss not provided [RCV000683864] Chr17:525..880983 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3(chr17:525-981413)x1 copy number loss not provided [RCV000683865] Chr17:525..981413 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.3(chr17:525-200742)x1 copy number loss not provided [RCV000683862] Chr17:525..200742 [GRCh37]
Chr17:17p13.3
likely benign
GRCh37/hg19 17p13.3(chr17:15498-699175)x1 copy number loss not provided [RCV000683867] Chr17:15498..699175 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3(chr17:1-2538512)x4,5 copy number gain Partial agenesis of the corpus callosum [RCV000754117] Chr17:1..2538512 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3(chr17:7214-198273)x1 copy number loss not provided [RCV000739318] Chr17:7214..198273 [GRCh37]
Chr17:17p13.3
benign
GRCh37/hg19 17p13.3-13.2(chr17:7214-3871323)x1 copy number loss not provided [RCV000739319] Chr17:7214..3871323 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3(chr17:8547-19389)x4 copy number gain not provided [RCV000739321] Chr17:8547..19389 [GRCh37]
Chr17:17p13.3
benign
GRCh37/hg19 17p13.3(chr17:8547-228978)x1 copy number loss not provided [RCV000739322] Chr17:8547..228978 [GRCh37]
Chr17:17p13.3
benign
GRCh37/hg19 17p13.3(chr17:8547-238193)x1 copy number loss not provided [RCV000739323] Chr17:8547..238193 [GRCh37]
Chr17:17p13.3
benign
GRCh37/hg19 17p13.3(chr17:19475-51630)x1 copy number loss not provided [RCV000739326] Chr17:19475..51630 [GRCh37]
Chr17:17p13.3
benign
GRCh37/hg19 17p13.3(chr17:20651-21555)x1 copy number loss not provided [RCV000739327] Chr17:20651..21555 [GRCh37]
Chr17:17p13.3
benign
GRCh37/hg19 17p13.3(chr17:20651-30571)x1 copy number loss not provided [RCV000739328] Chr17:20651..30571 [GRCh37]
Chr17:17p13.3
benign
GRCh37/hg19 17p13.3(chr17:525-632905)x3 copy number gain not provided [RCV000848422] Chr17:525..632905 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3(chr17:525-447663)x3 copy number gain not provided [RCV000849250] Chr17:525..447663 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3(chr17:525-969410)x3 copy number gain not provided [RCV001006849] Chr17:525..969410 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3(chr17:525-1225474)x1 copy number loss not provided [RCV000845890] Chr17:525..1225474 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1 copy number loss See cases [RCV001007429] Chr17:8547..5627408 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3(chr17:525-632905)x3 copy number gain not provided [RCV000847156] Chr17:525..632905 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3(chr17:525-2221159)x1 copy number loss not provided [RCV001006848] Chr17:525..2221159 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:1-1026797)x1 copy number loss ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 [RCV001265652] Chr17:1..1026797 [GRCh37]
Chr17:17p13.3
likely pathogenic
GRCh37/hg19 17p13.3(chr17:525-1450120)x1 copy number loss not provided [RCV001259323] Chr17:525..1450120 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:525-833922)x4 copy number gain not provided [RCV001259325] Chr17:525..833922 [GRCh37]
Chr17:17p13.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2986 AgrOrtholog
COSMIC DOC2B COSMIC
Ensembl Genes ENSG00000272636 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000272670 UniProtKB/TrEMBL
Ensembl Protein ENSP00000417238 UniProtKB/TrEMBL
  ENSP00000482950 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000496357 UniProtKB/TrEMBL
  ENST00000613549 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000272636 GTEx
  ENSG00000272670 GTEx
HGNC ID HGNC:2986 ENTREZGENE
Human Proteome Map DOC2B Human Proteome Map
InterPro C2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C2_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Doc2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Doc2b UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rabphilin/DOC2/Noc2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Synaptotagmin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8447 UniProtKB/Swiss-Prot
NCBI Gene 8447 ENTREZGENE
OMIM 604568 OMIM
PANTHER PTHR45729 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR45729:SF9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PF00168 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27452 PharmGKB
PIRSF Doc2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS C2DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SYNAPTOTAGMN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PS50004 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00239 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.551705 ENTREZGENE
UniProt A0A087WZX8 ENTREZGENE
  A0A0G2JKH4_HUMAN UniProtKB/TrEMBL
  DOC2B_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A0A087WZX8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 DOC2B  double C2 domain beta  DOC2BL  double C2-like domains, beta-like  Data Merged 737654 PROVISIONAL
2016-03-28 DOC2B  double C2 domain beta    double C2-like domains, beta  Symbol and/or name change 5135510 APPROVED