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: 30302009
HGNC Page HGNC:2662
Description: Enables SMAD binding activity; cargo receptor activity; and clathrin adaptor activity. Involved in several processes, including positive regulation of nitrogen compound metabolic process; regulation of signal transduction; and regulation of vesicle-mediated transport. Located in several cellular components, including clathrin-coated pit; clathrin-coated vesicle; and fibrillar center.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: adaptor molecule disabled-2; Dab, mitogen-responsive phosphoprotein, homolog 2; DAB2, clathrin adaptor protein; differentially expressed in ovarian carcinoma 2; differentially-expressed protein 2; disabled homolog 2; disabled homolog 2, mitogen-responsive phosphoprotein; DOC-2; DOC2
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
GRCh38539,371,677 - 39,424,980 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl539,371,675 - 39,462,300 (-)EnsemblGRCh38hg38GRCh38
GRCh37539,371,779 - 39,425,082 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map5p13.1NCBI
HuRef539,323,383 - 39,377,010 (-)NCBIHuRef
CHM1_1539,373,679 - 39,427,330 (-)NCBICHM1_1
T2T-CHM13v2.0539,621,190 - 39,674,588 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-methylcholanthrene  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
afimoxifene  (EXP)
aldosterone  (ISO)
all-trans-retinoic acid  (EXP,ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
bexarotene  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (ISO)
buspirone  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
carbon nanotube  (ISO)
chloroprene  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP,ISO)
clotrimazole  (ISO)
clozapine  (EXP)
cobalt dichloride  (EXP)
crocidolite asbestos  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
cytarabine  (EXP)
decabromodiphenyl ether  (EXP)
diarsenic trioxide  (EXP)
dichloroacetic acid  (EXP)
dichromium trioxide  (EXP)
diethylstilbestrol  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (EXP)
etoposide  (EXP)
exemestane  (EXP)
fenamidone  (ISO)
fipronil  (ISO)
flutamide  (ISO)
FR900359  (EXP)
fragrance  (EXP)
fulvestrant  (EXP)
furan  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
hexadecanoic acid  (EXP)
hydrogen peroxide  (EXP)
hypochlorous acid  (ISO)
ivermectin  (EXP)
juglone  (EXP)
L-ascorbic acid  (ISO)
lead diacetate  (EXP)
lipopolysaccharide  (EXP)
methimazole  (ISO)
methotrexate  (ISO)
methylphenidate  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
nickel dichloride  (EXP)
nimesulide  (ISO)
okadaic acid  (EXP)
oxaliplatin  (ISO)
paracetamol  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (EXP)
phenylmercury acetate  (EXP)
PhIP  (ISO)
phytoestrogen  (EXP)
pirinixic acid  (EXP)
potassium chromate  (EXP)
quercetin  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (EXP)
succimer  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
tetradecane  (ISO)
theophylline  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
undecane  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
venlafaxine hydrochloride  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
apoptotic process  (IEA)
cell differentiation  (IEA)
cell morphogenesis  (ISO)
cellular response to epidermal growth factor stimulus  (IEA)
cellular response to transforming growth factor beta stimulus  (IEA,ISO)
clathrin coat assembly  (IEA,ISO)
endocytosis  (IEA)
extrinsic apoptotic signaling pathway  (ISO)
hematopoietic stem cell proliferation  (ISO)
in utero embryonic development  (ISO)
integrin-mediated signaling pathway  (IMP)
leading edge cell differentiation  (IMP)
myeloid cell differentiation  (ISO)
negative regulation of androgen receptor signaling pathway  (IMP)
negative regulation of apoptotic process  (IDA)
negative regulation of canonical Wnt signaling pathway  (IBA,IEA,IMP,ISS)
negative regulation of cell growth  (IEA,ISO)
negative regulation of epithelial cell proliferation  (IEA,ISO)
negative regulation of ERK1 and ERK2 cascade  (IEA)
negative regulation of extrinsic apoptotic signaling pathway  (ISO)
negative regulation of neuron projection development  (IEA,ISO)
negative regulation of protein localization to plasma membrane  (IMP)
negative regulation of transcription by RNA polymerase II  (IMP)
positive regulation of aldosterone biosynthetic process  (IEA,ISO)
positive regulation of aldosterone secretion  (IEA,ISO)
positive regulation of cell adhesion  (ISO)
positive regulation of cell migration  (IMP)
positive regulation of clathrin-dependent endocytosis  (IMP)
positive regulation of early endosome to late endosome transport  (IMP)
positive regulation of endocytosis  (IBA,IEA,IMP,ISO)
positive regulation of epithelial to mesenchymal transition  (IBA,IDA)
positive regulation of integrin-mediated signaling pathway  (ISO)
positive regulation of JNK cascade  (ISO)
positive regulation of proteasomal ubiquitin-dependent protein catabolic process  (IMP)
positive regulation of protein phosphorylation  (IMP)
positive regulation of receptor internalization  (ISO)
positive regulation of receptor recycling  (ISO)
positive regulation of SMAD protein signal transduction  (IDA)
positive regulation of substrate adhesion-dependent cell spreading  (IEA,ISO)
positive regulation of transcription by RNA polymerase II  (IMP)
positive regulation of transcription elongation by RNA polymerase II  (ISO)
positive regulation of Wnt signaling pathway, planar cell polarity pathway  (IMP)
protein transport  (IEA)
receptor-mediated endocytosis  (IBA,IEA,ISO)
regulation of Rho-dependent protein serine/threonine kinase activity  (ISO)
renal protein absorption  (ISO)
response to salt  (IEA,ISO)
response to steroid hormone  (IEA,ISO)
transforming growth factor beta receptor signaling pathway  (IDA)
Wnt signaling pathway  (IEA)

References
Additional References at PubMed
PMID:8314147   PMID:8660969   PMID:8889548   PMID:9569023   PMID:9620555   PMID:10340382   PMID:10542228   PMID:10769163   PMID:11039902   PMID:11161789   PMID:11247302   PMID:11371563  
PMID:11387212   PMID:11812785   PMID:11906161   PMID:11927540   PMID:11967127   PMID:12473651   PMID:12477932   PMID:12606711   PMID:12805222   PMID:12853125   PMID:12857860   PMID:12881709  
PMID:14596919   PMID:14669280   PMID:14702039   PMID:15134832   PMID:15231748   PMID:15247260   PMID:15280374   PMID:15302935   PMID:15489334   PMID:15734730   PMID:15837803   PMID:15894542  
PMID:16061224   PMID:16101684   PMID:16267015   PMID:16713569   PMID:16870701   PMID:16964243   PMID:16984970   PMID:17009406   PMID:17081983   PMID:17110338   PMID:17115114   PMID:17187061  
PMID:17474147   PMID:17671122   PMID:18070591   PMID:18354201   PMID:18429820   PMID:18582465   PMID:19204726   PMID:19423540   PMID:19531213   PMID:19581412   PMID:19738201   PMID:19767570  
PMID:19805065   PMID:19855435   PMID:19956625   PMID:20351096   PMID:20379614   PMID:20383146   PMID:20406964   PMID:20438785   PMID:20448150   PMID:20525238   PMID:20592473   PMID:20628624  
PMID:20936779   PMID:21063401   PMID:21097498   PMID:21423176   PMID:21496867   PMID:21573318   PMID:21725366   PMID:21873635   PMID:21988832   PMID:21995445   PMID:22158540   PMID:22218591  
PMID:22265793   PMID:22323290   PMID:22399289   PMID:22491013   PMID:22558309   PMID:22648170   PMID:22705885   PMID:22898784   PMID:22977233   PMID:23005040   PMID:23263486   PMID:23376485  
PMID:23817569   PMID:23909735   PMID:24002585   PMID:24186266   PMID:24252604   PMID:24608456   PMID:24638085   PMID:24648493   PMID:24846918   PMID:24889971   PMID:25253241   PMID:25331956  
PMID:25496667   PMID:25719979   PMID:25879443   PMID:25892549   PMID:26143155   PMID:26186194   PMID:26496610   PMID:26673895   PMID:26755607   PMID:26769181   PMID:26927671   PMID:27036032  
PMID:27072056   PMID:27237791   PMID:27398911   PMID:27417122   PMID:28394802   PMID:28498390   PMID:28514442   PMID:28514805   PMID:28876503   PMID:28986522   PMID:29247596   PMID:29254794  
PMID:29395067   PMID:29467281   PMID:29568061   PMID:30275566   PMID:30543885   PMID:30833792   PMID:31101868   PMID:31519766   PMID:31586073   PMID:31672988   PMID:31744880   PMID:31815296  
PMID:31871319   PMID:32571632   PMID:32617970   PMID:32629690   PMID:32786267   PMID:32814053   PMID:33024031   PMID:33372034   PMID:33961781   PMID:34079125   PMID:34237899   PMID:34369648  
PMID:34476495   PMID:34591612   PMID:34709727   PMID:35044719   PMID:35198878   PMID:35337019   PMID:35384245   PMID:36574265   PMID:36614139   PMID:36779422   PMID:37361044   PMID:37774976  
PMID:37815603   PMID:38117590  


Genomics

Comparative Map Data
DAB2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38539,371,677 - 39,424,980 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl539,371,675 - 39,462,300 (-)EnsemblGRCh38hg38GRCh38
GRCh37539,371,779 - 39,425,082 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map5p13.1NCBI
HuRef539,323,383 - 39,377,010 (-)NCBIHuRef
CHM1_1539,373,679 - 39,427,330 (-)NCBICHM1_1
T2T-CHM13v2.0539,621,190 - 39,674,588 (-)NCBIT2T-CHM13v2.0
Dab2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39156,329,269 - 6,470,196 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl156,329,269 - 6,470,193 (+)EnsemblGRCm39 Ensembl
GRCm38156,299,788 - 6,440,715 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl156,299,788 - 6,440,712 (+)EnsemblGRCm38mm10GRCm38
MGSCv37156,249,789 - 6,390,712 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36156,247,064 - 6,387,927 (+)NCBIMGSCv36mm8
Celera156,148,799 - 6,289,867 (+)NCBICelera
Cytogenetic Map15A1NCBI
cM Map152.15NCBI
Dab2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8257,241,947 - 57,294,893 (+)NCBIGRCr8
mRatBN7.2255,514,692 - 55,567,476 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl255,514,700 - 55,567,476 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx262,644,828 - 62,666,312 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0260,718,369 - 60,739,859 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0255,720,837 - 55,742,323 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0255,747,353 - 55,768,848 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl255,747,318 - 55,768,270 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0275,489,435 - 75,510,930 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4255,714,874 - 55,736,370 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
NHGRI_mPanPan1-v2470,912,082 - 70,967,698 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1569,067,621 - 69,121,333 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0570,951,198 - 71,004,836 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1575,954,815 - 76,044,789 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl576,022,143 - 76,041,443 (+)Ensemblpanpan1.1panPan2
DAB2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1469,625,874 - 69,648,349 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl469,625,527 - 69,648,321 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha469,274,405 - 69,324,807 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0470,113,533 - 70,163,994 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl470,113,545 - 70,163,987 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1469,862,358 - 69,913,299 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0469,975,198 - 70,025,729 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0470,513,789 - 70,564,779 (+)NCBIUU_Cfam_GSD_1.0
Dab2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213228,434,139 - 228,472,266 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365182,915,764 - 2,937,875 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365182,915,819 - 2,936,474 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DAB2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1624,590,645 - 24,646,122 (-)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 - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1438,171,320 - 38,224,275 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl438,173,026 - 38,224,231 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607128,550,756 - 28,603,647 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dab2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475915,459,288 - 15,520,924 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475915,459,436 - 15,520,225 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DAB2
61 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001343.4(DAB2):c.1814C>A (p.Ser605Tyr) single nucleotide variant Inborn genetic diseases [RCV003245556] Chr5:39376973 [GRCh38]
Chr5:39377075 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001343.4(DAB2):c.576G>A (p.Gly192=) single nucleotide variant not provided [RCV000928010] Chr5:39388847 [GRCh38]
Chr5:39388949 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001343.4(DAB2):c.1034A>G (p.Gln345Arg) single nucleotide variant Inborn genetic diseases [RCV003275892] Chr5:39382925 [GRCh38]
Chr5:39383027 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001343.4(DAB2):c.681T>C (p.Ser227=) single nucleotide variant not provided [RCV000972416] Chr5:39388311 [GRCh38]
Chr5:39388413 [GRCh37]
Chr5:5p13.1		 benign
GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3 copy number gain not provided [RCV000682542] Chr5:27227243..45685844 [GRCh37]
Chr5:5p14.1-12		 pathogenic
NM_001343.4(DAB2):c.570+7T>C single nucleotide variant not provided [RCV000913472] Chr5:39389090 [GRCh38]
Chr5:39389192 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001343.4(DAB2):c.2286G>A (p.Arg762=) single nucleotide variant not provided [RCV000913577] Chr5:39375046 [GRCh38]
Chr5:39375148 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001343.4(DAB2):c.1587G>A (p.Pro529=) single nucleotide variant not provided [RCV000913702] Chr5:39377200 [GRCh38]
Chr5:39377302 [GRCh37]
Chr5:5p13.1		 likely benign
GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3 copy number gain See cases [RCV000137302] Chr5:35201559..61903141 [GRCh38]
Chr5:35201661..61198968 [GRCh37]
Chr5:35237418..61234725 [NCBI36]
Chr5:5p13.2-q12.1		 pathogenic
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
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11		 pathogenic
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12		 pathogenic
GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3 copy number gain See cases [RCV000512120] Chr5:24281195..46389339 [GRCh37]
Chr5:5p14.2-11		 likely pathogenic
GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3 copy number gain not provided [RCV000848003] Chr5:34453883..46389339 [GRCh37]
Chr5:5p13.2-11		 pathogenic
GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3 copy number gain See cases [RCV000051836] Chr5:36374107..51103841 [GRCh38]
Chr5:36374209..50399675 [GRCh37]
Chr5:36409966..50435432 [NCBI36]
Chr5:5p13.2-q11.1		 pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
NM_001343.4(DAB2):c.1569G>C (p.Gln523His) single nucleotide variant not provided [RCV000912952] Chr5:39377218 [GRCh38]
Chr5:39377320 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001343.4(DAB2):c.1288A>G (p.Ile430Val) single nucleotide variant not provided [RCV000891386] Chr5:39382671 [GRCh38]
Chr5:39382773 [GRCh37]
Chr5:5p13.1		 likely benign
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 5p13.1-q11.1(chr5:38432180-49441945)x3 copy number gain not provided [RCV001005674] Chr5:38432180..49441945 [GRCh37]
Chr5:5p13.1-q11.1		 pathogenic
GRCh38/hg38 5p13.2-13.1(chr5:37016043-39383281)x3 copy number gain See cases [RCV000051837] Chr5:37016043..39383281 [GRCh38]
Chr5:37016145..39383383 [GRCh37]
Chr5:37051902..39419140 [NCBI36]
Chr5:5p13.2-13.1		 pathogenic
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(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_001343.4(DAB2):c.2005C>G (p.Arg669Gly) single nucleotide variant Inborn genetic diseases [RCV003291239] Chr5:39376782 [GRCh38]
Chr5:39376884 [GRCh37]
Chr5:5p13.1		 uncertain significance
Single allele deletion not provided [RCV000677930] Chr5:39250414..40714234 [GRCh38]
Chr5:39250513..40714333 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001343.4(DAB2):c.678T>C (p.Asn226=) single nucleotide variant not provided [RCV000912953] Chr5:39388314 [GRCh38]
Chr5:39388416 [GRCh37]
Chr5:5p13.1		 benign
NM_001343.4(DAB2):c.267C>T (p.His89=) single nucleotide variant not provided [RCV000927434] Chr5:39392428 [GRCh38]
Chr5:39392530 [GRCh37]
Chr5:5p13.1		 likely benign
GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3 copy number gain See cases [RCV000051835] Chr5:35700480..45260029 [GRCh38]
Chr5:35700582..45260131 [GRCh37]
Chr5:35736339..45295888 [NCBI36]
Chr5:5p13.2-12		 pathogenic
GRCh37/hg19 5p13.3-12(chr5:31351588-43480111)x3 copy number gain not provided [RCV000744593] Chr5:31351588..43480111 [GRCh37]
Chr5:5p13.3-12		 pathogenic
NM_001343.4(DAB2):c.1759A>G (p.Thr587Ala) single nucleotide variant not provided [RCV000884414] Chr5:39377028 [GRCh38]
Chr5:39377130 [GRCh37]
Chr5:5p13.1		 benign
NM_001343.4(DAB2):c.888T>C (p.Arg296=) single nucleotide variant not provided [RCV000916295] Chr5:39383071 [GRCh38]
Chr5:39383173 [GRCh37]
Chr5:5p13.1		 benign
GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3 copy number gain See cases [RCV000239779] Chr5:13461664..46098927 [GRCh37]
Chr5:5p15.2-12		 pathogenic
NM_001343.4(DAB2):c.1630G>A (p.Val544Ile) single nucleotide variant not provided [RCV000892451] Chr5:39377157 [GRCh38]
Chr5:39377259 [GRCh37]
Chr5:5p13.1		 benign
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_001343.4(DAB2):c.886C>T (p.Arg296Cys) single nucleotide variant not provided [RCV000971703] Chr5:39383073 [GRCh38]
Chr5:39383175 [GRCh37]
Chr5:5p13.1		 benign
GRCh37/hg19 5p13.2-11(chr5:36053583-46389339)x3 copy number gain musculoskeletal system issues [RCV002284293] Chr5:36053583..46389339 [GRCh37]
Chr5:5p13.2-11		 pathogenic
GRCh37/hg19 5p13.2-11(chr5:34984696-46405042)x3 copy number gain not provided [RCV001537930] Chr5:34984696..46405042 [GRCh37]
Chr5:5p13.2-11		 pathogenic
GRCh37/hg19 5p14.1-11(chr5:26382110-46389339) copy number gain not specified [RCV002053485] Chr5:26382110..46389339 [GRCh37]
Chr5:5p14.1-11		 pathogenic
NM_001343.4(DAB2):c.677A>G (p.Asn226Ser) single nucleotide variant Inborn genetic diseases [RCV003284824] Chr5:39388315 [GRCh38]
Chr5:39388417 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001343.4(DAB2):c.553G>A (p.Ala185Thr) single nucleotide variant Inborn genetic diseases [RCV003285997] Chr5:39389114 [GRCh38]
Chr5:39389216 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001343.4(DAB2):c.629T>A (p.Val210Asp) single nucleotide variant Inborn genetic diseases [RCV003264985] Chr5:39388363 [GRCh38]
Chr5:39388465 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001343.4(DAB2):c.871A>G (p.Asn291Asp) single nucleotide variant Inborn genetic diseases [RCV002905233] Chr5:39383088 [GRCh38]
Chr5:39383190 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001343.4(DAB2):c.1583C>T (p.Ala528Val) single nucleotide variant Inborn genetic diseases [RCV002774109] Chr5:39377204 [GRCh38]
Chr5:39377306 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001343.4(DAB2):c.2002G>A (p.Ala668Thr) single nucleotide variant Inborn genetic diseases [RCV002992661] Chr5:39376785 [GRCh38]
Chr5:39376887 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001343.4(DAB2):c.397G>T (p.Ala133Ser) single nucleotide variant Inborn genetic diseases [RCV002818113] Chr5:39390509 [GRCh38]
Chr5:39390611 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001343.4(DAB2):c.1483G>A (p.Val495Met) single nucleotide variant Inborn genetic diseases [RCV002778557] Chr5:39381475 [GRCh38]
Chr5:39381577 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001343.4(DAB2):c.901A>C (p.Thr301Pro) single nucleotide variant Inborn genetic diseases [RCV002691647] Chr5:39383058 [GRCh38]
Chr5:39383160 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001343.4(DAB2):c.800G>A (p.Arg267Gln) single nucleotide variant Inborn genetic diseases [RCV002703612] Chr5:39383159 [GRCh38]
Chr5:39383261 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001343.4(DAB2):c.1997T>G (p.Val666Gly) single nucleotide variant Inborn genetic diseases [RCV002986897] Chr5:39376790 [GRCh38]
Chr5:39376892 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001343.4(DAB2):c.1274A>G (p.His425Arg) single nucleotide variant Inborn genetic diseases [RCV002696814] Chr5:39382685 [GRCh38]
Chr5:39382787 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001343.4(DAB2):c.1729G>A (p.Ala577Thr) single nucleotide variant Inborn genetic diseases [RCV002766950] Chr5:39377058 [GRCh38]
Chr5:39377160 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001343.4(DAB2):c.2278A>T (p.Met760Leu) single nucleotide variant Inborn genetic diseases [RCV002941458] Chr5:39375054 [GRCh38]
Chr5:39375156 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001343.4(DAB2):c.1615G>A (p.Gly539Ser) single nucleotide variant Inborn genetic diseases [RCV002940879] Chr5:39377172 [GRCh38]
Chr5:39377274 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001343.4(DAB2):c.1024T>C (p.Tyr342His) single nucleotide variant Inborn genetic diseases [RCV002879118] Chr5:39382935 [GRCh38]
Chr5:39383037 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001343.4(DAB2):c.661A>G (p.Thr221Ala) single nucleotide variant Inborn genetic diseases [RCV002896280] Chr5:39388331 [GRCh38]
Chr5:39388433 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001343.4(DAB2):c.475G>T (p.Val159Phe) single nucleotide variant Inborn genetic diseases [RCV002898214] Chr5:39389920 [GRCh38]
Chr5:39390022 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001343.4(DAB2):c.1000G>T (p.Gly334Trp) single nucleotide variant Inborn genetic diseases [RCV003215258] Chr5:39382959 [GRCh38]
Chr5:39383061 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001343.4(DAB2):c.451A>T (p.Thr151Ser) single nucleotide variant Inborn genetic diseases [RCV003218077] Chr5:39390455 [GRCh38]
Chr5:39390557 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001343.4(DAB2):c.232G>C (p.Gly78Arg) single nucleotide variant Inborn genetic diseases [RCV003284874] Chr5:39392463 [GRCh38]
Chr5:39392565 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001343.4(DAB2):c.2291C>T (p.Pro764Leu) single nucleotide variant Inborn genetic diseases [RCV003366466] Chr5:39375041 [GRCh38]
Chr5:39375143 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001343.4(DAB2):c.922C>A (p.Pro308Thr) single nucleotide variant Inborn genetic diseases [RCV003354093] Chr5:39383037 [GRCh38]
Chr5:39383139 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001343.4(DAB2):c.617T>C (p.Leu206Pro) single nucleotide variant Inborn genetic diseases [RCV003347748] Chr5:39388806 [GRCh38]
Chr5:39388908 [GRCh37]
Chr5:5p13.1		 uncertain significance
GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3 copy number gain See cases [RCV003482191] Chr5:29299893..45899898 [GRCh38]
Chr5:5p13.3-12		 likely pathogenic
NM_001343.4(DAB2):c.1194del (p.Phe398fs) deletion not provided [RCV003429629] Chr5:39382765 [GRCh38]
Chr5:39382867 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001343.4(DAB2):c.2030G>C (p.Gly677Ala) single nucleotide variant Inborn genetic diseases [RCV003379039] Chr5:39376757 [GRCh38]
Chr5:39376859 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001343.4(DAB2):c.571-9T>A single nucleotide variant not provided [RCV000880070] Chr5:39388861 [GRCh38]
Chr5:39388963 [GRCh37]
Chr5:5p13.1		 benign
NM_001343.4(DAB2):c.1514C>T (p.Thr505Ile) single nucleotide variant not provided [RCV000963843] Chr5:39377273 [GRCh38]
Chr5:39377375 [GRCh37]
Chr5:5p13.1		 benign
GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3 copy number gain See cases [RCV001310288] Chr5:29081195..45294031 [GRCh37]
Chr5:5p13.3-12		 pathogenic
GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3 copy number gain not provided [RCV002474514] Chr5:29348753..46389339 [GRCh37]
Chr5:5p13.3-11		 pathogenic
NM_001343.4(DAB2):c.65C>A (p.Ala22Glu) single nucleotide variant Inborn genetic diseases [RCV003287856] Chr5:39394256 [GRCh38]
Chr5:39394358 [GRCh37]
Chr5:5p13.1		 uncertain significance

Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_030312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001244871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF188298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI739507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU742719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB989218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM135031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM135032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM135033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM135034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM135035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM135036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L16886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U39050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U53446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000320816   ⟹   ENSP00000313391
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,371,677 - 39,424,980 (-)Ensembl
RefSeq Acc Id: ENST00000339788   ⟹   ENSP00000345508
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,371,678 - 39,424,980 (-)Ensembl
RefSeq Acc Id: ENST00000502388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,417,946 - 39,424,959 (-)Ensembl
RefSeq Acc Id: ENST00000502879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,374,745 - 39,376,042 (-)Ensembl
RefSeq Acc Id: ENST00000503513   ⟹   ENSP00000425088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,393,284 - 39,424,868 (-)Ensembl
RefSeq Acc Id: ENST00000505968
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,387,697 - 39,388,857 (-)Ensembl
RefSeq Acc Id: ENST00000507539   ⟹   ENSP00000421526
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,389,108 - 39,424,913 (-)Ensembl
RefSeq Acc Id: ENST00000507990
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,460,867 - 39,462,298 (-)Ensembl
RefSeq Acc Id: ENST00000509337   ⟹   ENSP00000426245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,373,021 - 39,394,400 (-)Ensembl
RefSeq Acc Id: ENST00000509457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,417,573 - 39,462,154 (-)Ensembl
RefSeq Acc Id: ENST00000511536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,417,553 - 39,424,870 (-)Ensembl
RefSeq Acc Id: ENST00000511792   ⟹   ENSP00000427541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,393,258 - 39,462,300 (-)Ensembl
RefSeq Acc Id: ENST00000512525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,385,168 - 39,392,439 (-)Ensembl
RefSeq Acc Id: ENST00000513052
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,394,294 - 39,408,837 (-)Ensembl
RefSeq Acc Id: ENST00000515269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,394,354 - 39,424,870 (-)Ensembl
RefSeq Acc Id: ENST00000515700   ⟹   ENSP00000421086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,393,369 - 39,424,976 (-)Ensembl
RefSeq Acc Id: ENST00000545653   ⟹   ENSP00000439919
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,371,675 - 39,425,233 (-)Ensembl
RefSeq Acc Id: NM_001244871   ⟹   NP_001231800
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38539,371,677 - 39,424,980 (-)NCBI
T2T-CHM13v2.0539,621,190 - 39,674,588 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001343   ⟹   NP_001334
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38539,371,677 - 39,424,980 (-)NCBI
T2T-CHM13v2.0539,621,190 - 39,674,588 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001231800   ⟸   NM_001244871
- Peptide Label: isoform 2
- UniProtKB: B2RAW0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001334   ⟸   NM_001343
- Peptide Label: isoform 1
- UniProtKB: Q9BTY0 (UniProtKB/Swiss-Prot),   Q13598 (UniProtKB/Swiss-Prot),   A6NES5 (UniProtKB/Swiss-Prot),   Q9UK04 (UniProtKB/Swiss-Prot),   P98082 (UniProtKB/Swiss-Prot),   B2RAW0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000425088   ⟸   ENST00000503513
RefSeq Acc Id: ENSP00000313391   ⟸   ENST00000320816
RefSeq Acc Id: ENSP00000439919   ⟸   ENST00000545653
RefSeq Acc Id: ENSP00000421526   ⟸   ENST00000507539
RefSeq Acc Id: ENSP00000426245   ⟸   ENST00000509337
RefSeq Acc Id: ENSP00000345508   ⟸   ENST00000339788
RefSeq Acc Id: ENSP00000427541   ⟸   ENST00000511792
RefSeq Acc Id: ENSP00000421086   ⟸   ENST00000515700
Protein Domains
PID

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P98082-F1-model_v2 AlphaFold P98082 1-770 view protein structure

Promoters
RGD ID:6869448
Promoter ID:EPDNEW_H7889
Type:initiation region
Name:DAB2_7
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_H7891  EPDNEW_H7892  EPDNEW_H7893  EPDNEW_H7895  EPDNEW_H7896  EPDNEW_H7890  EPDNEW_H7894  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38539,375,012 - 39,375,072EPDNEW
RGD ID:6869516
Promoter ID:EPDNEW_H7890
Type:multiple initiation site
Name:DAB2_2
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_H7896  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38539,388,339 - 39,388,399EPDNEW
RGD ID:6869452
Promoter ID:EPDNEW_H7891
Type:multiple initiation site
Name:DAB2_6
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_H7892  EPDNEW_H7893  EPDNEW_H7894  EPDNEW_H7895  EPDNEW_H7896  EPDNEW_H7890  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38539,388,845 - 39,388,905EPDNEW
RGD ID:6869454
Promoter ID:EPDNEW_H7892
Type:initiation region
Name:DAB2_5
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_H7893  EPDNEW_H7894  EPDNEW_H7895  EPDNEW_H7896  EPDNEW_H7890  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38539,390,486 - 39,390,546EPDNEW
RGD ID:6869456
Promoter ID:EPDNEW_H7893
Type:multiple initiation site
Name:DAB2_4
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_H7894  EPDNEW_H7895  EPDNEW_H7896  EPDNEW_H7890  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38539,417,496 - 39,417,556EPDNEW
RGD ID:6869458
Promoter ID:EPDNEW_H7894
Type:initiation region
Name:DAB2_1
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_H7895  EPDNEW_H7896  EPDNEW_H7890  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38539,424,980 - 39,425,040EPDNEW
RGD ID:6869460
Promoter ID:EPDNEW_H7895
Type:initiation region
Name:DAB2_3
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_H7896  EPDNEW_H7890  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38539,425,198 - 39,425,258EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2662 AgrOrtholog
COSMIC DAB2 COSMIC
Ensembl Genes ENSG00000153071 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000320816 ENTREZGENE
  ENST00000320816.11 UniProtKB/Swiss-Prot
  ENST00000339788.10 UniProtKB/Swiss-Prot
  ENST00000503513.5 UniProtKB/TrEMBL
  ENST00000507539.5 UniProtKB/TrEMBL
  ENST00000509337.5 UniProtKB/Swiss-Prot
  ENST00000511792.5 UniProtKB/TrEMBL
  ENST00000515700.5 UniProtKB/TrEMBL
  ENST00000545653 ENTREZGENE
  ENST00000545653.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000153071 GTEx
HGNC ID HGNC:2662 ENTREZGENE
Human Proteome Map DAB2 Human Proteome Map
InterPro DAB1/2_SBM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dab_PTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTB/PI_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1601 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene DAB2 ENTREZGENE
OMIM 601236 OMIM
PANTHER DISABLED HOMOLOG 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PID DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DAB2_SBM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PID UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27132 PharmGKB
PROSITE PID UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A6NES5 ENTREZGENE
  B2RAW0 ENTREZGENE, UniProtKB/TrEMBL
  D6REB1_HUMAN UniProtKB/TrEMBL
  D6RFF7_HUMAN UniProtKB/TrEMBL
  D6RGZ1_HUMAN UniProtKB/TrEMBL
  D6RIA5_HUMAN UniProtKB/TrEMBL
  DAB2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q13598 ENTREZGENE
  Q9BTY0 ENTREZGENE
  Q9UK04 ENTREZGENE
UniProt Secondary A6NES5 UniProtKB/Swiss-Prot
  Q13598 UniProtKB/Swiss-Prot
  Q9BTY0 UniProtKB/Swiss-Prot
  Q9UK04 UniProtKB/Swiss-Prot