DAB2 (DAB adaptor protein 2) - Rat Genome Database

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Gene: DAB2 (DAB adaptor protein 2) Homo sapiens
Analyze
Symbol: DAB2
Name: DAB adaptor protein 2
RGD ID: 731451
Description: ENCODES a protein that exhibits AP-2 adaptor complex binding (ortholog); cargo receptor activity (ortholog); clathrin adaptor activity (ortholog); INVOLVED IN activation of JUN kinase activity (ortholog); cell morphogenesis involved in differentiation (ortholog); cellular response to epidermal growth factor stimulus (ortholog); PARTICIPATES IN transforming growth factor-beta Smad dependent signaling pathway; endocytosis pathway; ASSOCIATED WITH Brain Injuries (ortholog); Experimental Autoimmune Encephalomyelitis (ortholog); metabolic acidosis (ortholog); FOUND IN apical plasma membrane (ortholog); clathrin coat of coated pit (ortholog); clathrin-coated vesicle membrane (ortholog)
Type: ncrna
RefSeq Status: MODEL
Also known as: adaptor molecule disabled-2; Dab, mitogen-responsive phosphoprotein, homolog 2; Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila); differentially expressed in ovarian carcinoma 2; differentially-expressed protein 2; disabled homolog 2; disabled homolog 2, mitogen-responsive phosphoprotein; DOC-2; DOC2; FLJ26626; mitogen-responsive phosphoprotein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
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 Ensembl539,371,675 - 39,462,300 (-)EnsemblGRCh38hg38GRCh38
GRCh38539,460,870 - 39,462,304 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37539,371,776 - 39,425,335 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36539,407,537 - 39,461,092 (-)NCBINCBI36hg18NCBI36
Build 34539,408,502 - 39,460,703NCBI
Celera539,258,704 - 39,312,863 (-)NCBI
Cytogenetic Map5p13.1NCBI
HuRef539,323,383 - 39,377,010 (-)NCBIHuRef
CHM1_1539,373,679 - 39,427,330 (-)NCBICHM1_1
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
activation of JUN kinase activity  (ISO)
cell morphogenesis involved in differentiation  (ISO)
cellular response to epidermal growth factor stimulus  (ISO)
cellular response to transforming growth factor beta stimulus  (ISO)
clathrin coat assembly  (ISO)
endoderm development  (ISO)
excretion  (ISO)
hematopoietic stem cell proliferation  (ISO)
in utero embryonic development  (ISO)
myeloid cell differentiation  (ISO)
negative regulation of apoptotic process  (ISO)
negative regulation of canonical Wnt signaling pathway  (ISO)
negative regulation of cell growth  (ISO)
negative regulation of epithelial cell proliferation  (ISO)
negative regulation of ERK1 and ERK2 cascade  (ISO)
negative regulation of extrinsic apoptotic signaling pathway  (ISO)
negative regulation of neuron projection development  (ISO)
negative regulation of protein localization to plasma membrane  (ISO)
pinocytosis  (ISO)
positive regulation of aldosterone biosynthetic process  (ISO)
positive regulation of aldosterone secretion  (ISO)
positive regulation of cell adhesion  (ISO)
positive regulation of cell migration  (ISO)
positive regulation of clathrin-dependent endocytosis  (ISO)
positive regulation of endocytosis  (ISO)
positive regulation of epithelial to mesenchymal transition  (ISO)
positive regulation of integrin-mediated signaling pathway  (ISO)
positive regulation of pathway-restricted SMAD protein phosphorylation  (ISO)
positive regulation of receptor internalization  (ISO)
positive regulation of receptor recycling  (ISO)
positive regulation of substrate adhesion-dependent cell spreading  (ISO)
positive regulation of transcription elongation from RNA polymerase II promoter  (ISO)
receptor-mediated endocytosis  (ISO)
regulation of Rho-dependent protein serine/threonine kinase activity  (ISO)
response to salt  (ISO)
response to steroid hormone  (ISO)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References


Genomics

Comparative Map Data
DAB2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl539,371,675 - 39,462,300 (-)EnsemblGRCh38hg38GRCh38
GRCh38539,460,870 - 39,462,304 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37539,371,776 - 39,425,335 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36539,407,537 - 39,461,092 (-)NCBINCBI36hg18NCBI36
Build 34539,408,502 - 39,460,703NCBI
Celera539,258,704 - 39,312,863 (-)NCBI
Cytogenetic Map5p13.1NCBI
HuRef539,323,383 - 39,377,010 (-)NCBIHuRef
CHM1_1539,373,679 - 39,427,330 (-)NCBICHM1_1
Dab2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39156,329,269 - 6,470,196 (+)NCBIGRCm39mm39
GRCm39 Ensembl156,329,269 - 6,470,193 (+)Ensembl
GRCm38156,299,788 - 6,440,715 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl156,299,788 - 6,440,712 (+)EnsemblGRCm38mm10GRCm38
MGSCv37156,249,789 - 6,390,712 (+)NCBIGRCm37mm9NCBIm37
MGSCv36156,247,064 - 6,387,927 (+)NCBImm8
Celera156,148,799 - 6,289,867 (+)NCBICelera
Cytogenetic Map15A1NCBI
cM Map152.15NCBI
Dab2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2255,514,692 - 55,567,476 (+)NCBI
Rnor_6.0 Ensembl255,747,318 - 55,768,270 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0255,747,353 - 55,768,848 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0275,489,435 - 75,510,930 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4255,714,874 - 55,736,370 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1255,643,109 - 55,664,600 (+)NCBI
Celera251,166,390 - 51,187,877 (+)NCBICelera
Cytogenetic Map2q16NCBI
Dab2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495542623,852,752 - 23,883,030 (-)NCBIChiLan1.0ChiLan1.0
DAB2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1575,954,815 - 76,044,789 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl576,022,143 - 76,041,443 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0570,951,198 - 71,004,836 (+)NCBIMhudiblu_PPA_v0panPan3
Dab2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213228,434,139 - 228,472,266 (-)NCBI
SpeTri2.0NW_0049365182,915,819 - 2,936,474 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DAB2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1624,514,722 - 24,776,903 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11624,590,638 - 24,776,937 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21625,732,883 - 25,757,751 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DAB2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1438,171,320 - 38,224,275 (-)NCBI
ChlSab1.1 Ensembl438,173,026 - 38,224,231 (-)Ensembl
Dab2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475915,459,436 - 15,520,225 (+)NCBI

Position Markers
RH67769  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37539,372,777 - 39,373,053UniSTSGRCh37
Build 36539,408,534 - 39,408,810RGDNCBI36
Celera539,259,701 - 39,259,977RGD
Cytogenetic Map5p13UniSTS
HuRef539,324,384 - 39,324,660UniSTS
GeneMap99-GB4 RH Map5140.26UniSTS
NCBI RH Map5101.3UniSTS
RH103057  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37539,372,050 - 39,372,169UniSTSGRCh37
Build 36539,407,807 - 39,407,926RGDNCBI36
Celera539,258,974 - 39,259,093RGD
Cytogenetic Map5p13UniSTS
HuRef539,323,657 - 39,323,776UniSTS
G54013  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37539,373,194 - 39,373,352UniSTSGRCh37
Build 36539,408,951 - 39,409,109RGDNCBI36
Celera539,260,118 - 39,260,276RGD
Cytogenetic Map5p13UniSTS
HuRef539,324,801 - 39,324,959UniSTS
RH122297  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37539,386,500 - 39,386,772UniSTSGRCh37
Build 36539,422,257 - 39,422,529RGDNCBI36
Celera539,273,425 - 39,273,697RGD
Cytogenetic Map5p13UniSTS
HuRef539,338,109 - 39,338,381UniSTS
TNG Radiation Hybrid Map519044.0UniSTS
SHGC-107361  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37539,423,904 - 39,424,174UniSTSGRCh37
Build 36539,459,661 - 39,459,931RGDNCBI36
Celera539,311,436 - 39,311,706RGD
Cytogenetic Map5p13UniSTS
HuRef539,375,583 - 39,375,853UniSTS
TNG Radiation Hybrid Map519082.0UniSTS
SHGC-52617  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37539,390,031 - 39,390,209UniSTSGRCh37
Build 36539,425,788 - 39,425,966RGDNCBI36
Celera539,277,473 - 39,277,651RGD
Cytogenetic Map5p13UniSTS
HuRef539,341,641 - 39,341,819UniSTS
TNG Radiation Hybrid Map519028.0UniSTS
WI-18094  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37539,377,630 - 39,377,756UniSTSGRCh37
Build 36539,413,387 - 39,413,513RGDNCBI36
Celera539,264,554 - 39,264,680RGD
Cytogenetic Map5p13UniSTS
HuRef539,329,237 - 39,329,363UniSTS
GeneMap99-GB4 RH Map5132.07UniSTS
Whitehead-RH Map5127.7UniSTS
NCBI RH Map5153.5UniSTS
SGC34152  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37539,394,374 - 39,394,500UniSTSGRCh37
Build 36539,430,131 - 39,430,257RGDNCBI36
Celera539,281,814 - 39,281,940RGD
Cytogenetic Map5p13UniSTS
HuRef539,345,983 - 39,346,109UniSTS
Whitehead-RH Map5144.4UniSTS
NCBI RH Map5155.9UniSTS
SGC34180  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37539,385,396 - 39,385,520UniSTSGRCh37
Build 36539,421,153 - 39,421,277RGDNCBI36
Celera539,272,321 - 39,272,445RGD
Cytogenetic Map5p13UniSTS
HuRef539,337,005 - 39,337,129UniSTS
TNG Radiation Hybrid Map519057.0UniSTS
GeneMap99-GB4 RH Map5132.81UniSTS
Whitehead-RH Map5126.2UniSTS
NCBI RH Map5152.0UniSTS
DAB2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37539,382,772 - 39,383,183UniSTSGRCh37
Celera539,269,697 - 39,270,108UniSTS
HuRef539,334,381 - 39,334,792UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR187hsa-miR-187-3pOncomiRDBexternal_infoNANA21725366

Predicted Target Of
Summary Value
Count of predictions:4948
Count of miRNA genes:1149
Interacting mature miRNAs:1408
Transcripts:ENST00000320816, ENST00000339788, ENST00000502388, ENST00000502879, ENST00000503513, ENST00000505968, ENST00000507539, ENST00000507990, ENST00000509337, ENST00000509457, ENST00000511536, ENST00000511792, ENST00000512525, ENST00000513052, ENST00000515269, ENST00000515700, ENST00000545653
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 2151 1614 1201 321 572 174 3188 1138 993 377 947 1421 155 1204 1998 4
Low 258 1356 517 300 813 288 1167 1048 2694 39 486 119 15 790 1
Below cutoff 16 13 4 1 145 3 1 7 10 3 20 24 4 1

Sequence

Nucleotide Sequences
RefSeq Transcripts XR_002956212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: XR_002956212
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38539,460,870 - 39,462,304 (-)NCBI
Sequence:
Promoters
RGD ID:6803076
Promoter ID:HG_KWN:50017
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000339788,   NM_001343
Position:
Human AssemblyChrPosition (strand)Source
Build 36539,460,649 - 39,461,149 (-)MPROMDB
RGD ID:6850926
Promoter ID:EP73259
Type:initiation region
Name:HS_DAB2
Description:Disabled homolog 2, mitogen-responsive phosphoprotein(Drosophila).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36539,460,818 - 39,460,878EPD
RGD ID:6869462
Promoter ID:EPDNEW_H7896
Type:initiation region
Name:DAB2_8
Description:DAB2, clathrin adaptor protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7889  EPDNEW_H7891  EPDNEW_H7892  EPDNEW_H7893  EPDNEW_H7894  EPDNEW_H7895  EPDNEW_H7890  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38539,462,202 - 39,462,262EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5p14.1-q11.1(chr5:26593632-50288555)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|See cases [RCV000051834] Chr5:26593632..50288555 [GRCh38]
Chr5:26593741..49584389 [GRCh37]
Chr5:26629498..49620146 [NCBI36]
Chr5:5p14.1-q11.1
pathogenic
NM_001343.3(DAB2):c.917C>T (p.Ser306Leu) single nucleotide variant Malignant melanoma [RCV000066925] Chr5:39383042 [GRCh38]
Chr5:39383144 [GRCh37]
Chr5:39418901 [NCBI36]
Chr5:5p13.1
not provided
NM_001343.3(DAB2):c.222G>A (p.Met74Ile) single nucleotide variant Malignant melanoma [RCV000066926] Chr5:39393263 [GRCh38]
Chr5:39393365 [GRCh37]
Chr5:39429122 [NCBI36]
Chr5:5p13.1
not provided

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2662 AgrOrtholog
COSMIC DAB2 COSMIC
Ensembl Genes ENSG00000153071 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000507990 ENTREZGENE
GTEx ENSG00000153071 GTEx
Human Proteome Map DAB2 Human Proteome Map
NCBI Gene LOC112267931 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-02-05 DAB2  DAB adaptor protein 2    DAB2, clathrin adaptor protein  Symbol and/or name change 5135510 APPROVED
2016-03-28 DAB2  DAB2, clathrin adaptor protein    Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)  Symbol and/or name change 5135510 APPROVED
2013-03-12 DAB2  Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)    disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)  Symbol and/or name change 5135510 APPROVED