PHLDB2 (pleckstrin homology like domain family B member 2) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: PHLDB2 (pleckstrin homology like domain family B member 2) Homo sapiens
Analyze
Symbol: PHLDB2
Name: pleckstrin homology like domain family B member 2
RGD ID: 1350676
HGNC Page HGNC:29573
Description: Enables cadherin binding activity. Involved in several processes, including negative regulation of focal adhesion assembly; regulation of cytoskeleton organization; and regulation of embryonic development. Located in several cellular components, including basal cortex; cytoskeleton; and focal adhesion.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DKFZp313O2433; DKFZp434G227; DKFZp686J05113; FLJ21791; LL5 beta; LL5b; LL5beta; pleckstrin homology-like domain family B member 2; pleckstrin homology-like domain, family B, member 2; protein LL5-beta
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383111,732,496 - 111,976,517 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3111,732,497 - 111,976,517 (+)EnsemblGRCh38hg38GRCh38
GRCh373111,451,343 - 111,695,364 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363113,085,500 - 113,177,826 (+)NCBINCBI36Build 36hg18NCBI36
Build 343113,085,499 - 113,177,809NCBI
Celera3109,851,286 - 110,094,444 (+)NCBICelera
Cytogenetic Map3q13.2NCBI
HuRef3108,826,722 - 109,070,708 (+)NCBIHuRef
CHM1_13111,415,675 - 111,659,409 (+)NCBICHM1_1
T2T-CHM13v2.03114,453,343 - 114,697,610 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-hydroxypropanoic acid  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP,ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
calcitriol  (EXP)
cannabidiol  (EXP)
carbamazepine  (EXP)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumarin  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (EXP,ISO)
cyclosporin A  (EXP)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
disulfiram  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
Enterolactone  (EXP)
ethyl methanesulfonate  (EXP)
fenamidone  (ISO)
folic acid  (ISO)
FR900359  (EXP)
fulvestrant  (EXP)
geldanamycin  (EXP)
glyphosate  (ISO)
hexadecanoic acid  (EXP)
isobutanol  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
Licochalcone B  (EXP)
lipopolysaccharide  (EXP)
melphalan  (EXP)
nefazodone  (ISO)
nimesulide  (ISO)
ochratoxin A  (EXP)
paracetamol  (EXP,ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
quercetin  (EXP)
rac-lactic acid  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (EXP)
sunitinib  (EXP)
tetrachloromethane  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triphenyl phosphate  (EXP,ISO)
triptonide  (ISO)
troglitazone  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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
3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:8889548   PMID:11001876   PMID:12376540   PMID:14702039   PMID:15161933   PMID:15302935   PMID:15324660   PMID:15489334   PMID:16344560   PMID:16824950   PMID:16964243   PMID:18029348  
PMID:19531213   PMID:20125193   PMID:20236936   PMID:20379614   PMID:20513769   PMID:21150319   PMID:21873635   PMID:21988832   PMID:22111664   PMID:23443559   PMID:23525008   PMID:23940118  
PMID:24120883   PMID:24255178   PMID:24711643   PMID:24859005   PMID:24982445   PMID:25468996   PMID:26167880   PMID:26496610   PMID:26638075   PMID:26777405   PMID:27173435   PMID:27378169  
PMID:27684187   PMID:28392396   PMID:28524877   PMID:28700943   PMID:29395067   PMID:29467281   PMID:29467282   PMID:29507755   PMID:29778605   PMID:30021884   PMID:30194290   PMID:30639242  
PMID:30867511   PMID:31076515   PMID:31240132   PMID:31324722   PMID:31343991   PMID:31586073   PMID:31753913   PMID:31871319   PMID:32687490   PMID:32780723   PMID:32908313   PMID:33060197  
PMID:33320958   PMID:33452458   PMID:33961781   PMID:34079125   PMID:34337001   PMID:34952201   PMID:35253629   PMID:35271311   PMID:35944360   PMID:36199071   PMID:36215168   PMID:36526897  
PMID:36931259   PMID:36976175   PMID:37071682   PMID:37437062   PMID:37689310   PMID:38397469  


Genomics

Comparative Map Data
PHLDB2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383111,732,496 - 111,976,517 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3111,732,497 - 111,976,517 (+)EnsemblGRCh38hg38GRCh38
GRCh373111,451,343 - 111,695,364 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363113,085,500 - 113,177,826 (+)NCBINCBI36Build 36hg18NCBI36
Build 343113,085,499 - 113,177,809NCBI
Celera3109,851,286 - 110,094,444 (+)NCBICelera
Cytogenetic Map3q13.2NCBI
HuRef3108,826,722 - 109,070,708 (+)NCBIHuRef
CHM1_13111,415,675 - 111,659,409 (+)NCBICHM1_1
T2T-CHM13v2.03114,453,343 - 114,697,610 (+)NCBIT2T-CHM13v2.0
Phldb2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391645,566,593 - 45,773,961 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1645,566,606 - 45,773,961 (-)EnsemblGRCm39 Ensembl
GRCm381645,746,230 - 45,953,598 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1645,746,243 - 45,953,598 (-)EnsemblGRCm38mm10GRCm38
MGSCv371645,746,346 - 45,844,491 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361645,665,575 - 45,763,715 (-)NCBIMGSCv36mm8
Celera1646,122,635 - 46,220,830 (-)NCBICelera
Cytogenetic Map16B5NCBI
cM Map1630.08NCBI
Phldb2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81168,321,738 - 68,540,724 (+)NCBIGRCr8
mRatBN7.21154,859,173 - 55,078,212 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1154,859,135 - 55,078,467 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01160,042,879 - 60,051,229 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1157,265,732 - 57,481,589 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01160,429,481 - 60,646,262 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41156,484,223 - 56,564,459 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1154,388,307 - 54,601,451 (+)NCBICelera
Cytogenetic Map11q21NCBI
Phldb2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542712,273,062 - 12,388,217 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542712,284,100 - 12,385,755 (+)NCBIChiLan1.0ChiLan1.0
PHLDB2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22109,844,347 - 109,975,856 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13109,849,118 - 109,980,637 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03108,878,798 - 109,120,501 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13115,803,869 - 116,044,586 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3115,745,634 - 116,044,586 (+)Ensemblpanpan1.1panPan2
PHLDB2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13316,521,087 - 16,615,774 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3316,497,202 - 16,614,132 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3316,500,237 - 16,717,632 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03316,635,502 - 16,853,682 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3316,737,741 - 16,853,566 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13316,446,434 - 16,663,884 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03316,492,184 - 16,707,808 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03317,037,057 - 17,254,141 (+)NCBIUU_Cfam_GSD_1.0
Phldb2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602137,792,508 - 137,991,275 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936834592,584 - 793,386 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936834592,688 - 791,533 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PHLDB2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13147,778,370 - 147,879,794 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113147,778,420 - 148,025,943 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
PHLDB2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12268,821,958 - 69,059,087 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2268,821,742 - 69,059,087 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604197,417,840 - 97,653,649 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Phldb2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473136,593,871 - 36,872,200 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473136,596,812 - 36,871,963 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PHLDB2
97 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1 copy number loss See cases [RCV000051543] Chr3:93886671..123216683 [GRCh38]
Chr3:93605515..122935530 [GRCh37]
Chr3:95088205..124418220 [NCBI36]
Chr3:3q11.1-21.1		 pathogenic
GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1 copy number loss See cases [RCV000051544] Chr3:108242572..116169331 [GRCh38]
Chr3:107961419..115888178 [GRCh37]
Chr3:109444109..117370868 [NCBI36]
Chr3:3q13.13-13.31		 pathogenic
GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3 copy number gain See cases [RCV000051722] Chr3:104621220..116093884 [GRCh38]
Chr3:104340064..115812731 [GRCh37]
Chr3:105822754..117295421 [NCBI36]
Chr3:3q13.11-13.31		 pathogenic
NM_001134437.1(PHLDB2):c.12G>A (p.Glu4=) single nucleotide variant Malignant melanoma [RCV000065771] Chr3:111845880 [GRCh38]
Chr3:111564727 [GRCh37]
Chr3:113047417 [NCBI36]
Chr3:3q13.2		 not provided
NM_001134437.1(PHLDB2):c.1102A>G (p.Met368Val) single nucleotide variant Malignant melanoma [RCV000065772] Chr3:111885098 [GRCh38]
Chr3:111603945 [GRCh37]
Chr3:113086635 [NCBI36]
Chr3:3q13.2		 not provided
NM_001134437.1(PHLDB2):c.1416+98G>A single nucleotide variant Malignant melanoma [RCV000065773] Chr3:111885510 [GRCh38]
Chr3:111604357 [GRCh37]
Chr3:113087047 [NCBI36]
Chr3:3q13.2		 not provided
NM_001134437.1(PHLDB2):c.1417-1685G>A single nucleotide variant Malignant melanoma [RCV000065774] Chr3:111911634 [GRCh38]
Chr3:111630481 [GRCh37]
Chr3:113113171 [NCBI36]
Chr3:3q13.2		 not provided
NM_001134437.1(PHLDB2):c.1684C>T (p.Pro562Ser) single nucleotide variant Malignant melanoma [RCV000060662] Chr3:111913586 [GRCh38]
Chr3:111632433 [GRCh37]
Chr3:113115123 [NCBI36]
Chr3:3q13.2		 not provided
NM_001134437.1(PHLDB2):c.3584C>T (p.Pro1195Leu) single nucleotide variant Malignant melanoma [RCV000060663] Chr3:111974433 [GRCh38]
Chr3:111693280 [GRCh37]
Chr3:113175970 [NCBI36]
Chr3:3q13.2		 not provided
NM_153268.3(PLCXD2):c.879C>T (p.Ile293=) single nucleotide variant Malignant melanoma [RCV000060661] Chr3:111845833 [GRCh38]
Chr3:111564680 [GRCh37]
Chr3:113047370 [NCBI36]
Chr3:3q13.2		 not provided
NM_001134437.1(PHLDB2):c.2825-683G>A single nucleotide variant Lung cancer [RCV000092716] Chr3:111961425 [GRCh38]
Chr3:111680272 [GRCh37]
Chr3:3q13.2		 uncertain significance
GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1 copy number loss See cases [RCV000135320] Chr3:93819623..116887056 [GRCh38]
Chr3:93538467..116605903 [GRCh37]
Chr3:95021157..118088593 [NCBI36]
Chr3:3q11.1-13.31		 pathogenic
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1 copy number loss See cases [RCV000138186] Chr3:97795369..115663349 [GRCh38]
Chr3:97514213..115382196 [GRCh37]
Chr3:98996903..116864886 [NCBI36]
Chr3:3q11.2-13.31		 pathogenic|uncertain significance
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24		 pathogenic
GRCh37/hg19 3q13.12-13.31(chr3:106598767-115704696) copy number loss Chromosome 3q13.31 deletion syndrome [RCV002280741] Chr3:106598767..115704696 [GRCh37]
Chr3:3q13.12-13.31		 pathogenic
GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1 copy number loss See cases [RCV000448410] Chr3:105094834..117441953 [GRCh37]
Chr3:3q13.11-13.32		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3q13.13-13.31(chr3:110645295-115103586)x1 copy number loss not provided [RCV000682294] Chr3:110645295..115103586 [GRCh37]
Chr3:3q13.13-13.31		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_001134438.2(PHLDB2):c.2610G>A (p.Ala870=) single nucleotide variant not provided [RCV000964940] Chr3:111949054 [GRCh38]
Chr3:111667901 [GRCh37]
Chr3:3q13.2		 benign
NM_001134438.2(PHLDB2):c.2857C>T (p.Arg953Trp) single nucleotide variant not provided [RCV000960839] Chr3:111954014 [GRCh38]
Chr3:111672861 [GRCh37]
Chr3:3q13.2		 benign
NM_001134438.2(PHLDB2):c.2474A>G (p.Asn825Ser) single nucleotide variant not provided [RCV000964939] Chr3:111945344 [GRCh38]
Chr3:111664191 [GRCh37]
Chr3:3q13.2		 benign
NM_001134438.2(PHLDB2):c.1291C>T (p.Arg431Trp) single nucleotide variant not specified [RCV004281873] Chr3:111885368 [GRCh38]
Chr3:111604215 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.2833G>T (p.Ala945Ser) single nucleotide variant not specified [RCV004301482] Chr3:111953990 [GRCh38]
Chr3:111672837 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.131C>T (p.Ser44Phe) single nucleotide variant not specified [RCV004291796] Chr3:111884208 [GRCh38]
Chr3:111603055 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.1901A>T (p.Lys634Ile) single nucleotide variant not specified [RCV004281564] Chr3:111920319 [GRCh38]
Chr3:111639166 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.110G>A (p.Ser37Asn) single nucleotide variant not specified [RCV004293886] Chr3:111884187 [GRCh38]
Chr3:111603034 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.112C>G (p.Leu38Val) single nucleotide variant not specified [RCV004291795] Chr3:111884189 [GRCh38]
Chr3:111603036 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.572C>T (p.Pro191Leu) single nucleotide variant not provided [RCV000975004] Chr3:111884649 [GRCh38]
Chr3:111603496 [GRCh37]
Chr3:3q13.2		 benign
NM_001134438.2(PHLDB2):c.2872+4C>T single nucleotide variant not provided [RCV000888531] Chr3:111954033 [GRCh38]
Chr3:111672880 [GRCh37]
Chr3:3q13.2		 benign
NM_001134438.2(PHLDB2):c.2818C>T (p.Pro940Ser) single nucleotide variant not provided [RCV000890559] Chr3:111953975 [GRCh38]
Chr3:111672822 [GRCh37]
Chr3:3q13.2		 benign
NM_001134438.2(PHLDB2):c.137G>T (p.Ser46Ile) single nucleotide variant not provided [RCV000956121] Chr3:111884214 [GRCh38]
Chr3:111603061 [GRCh37]
Chr3:3q13.2		 benign
NM_001134438.2(PHLDB2):c.1668C>T (p.Ser556=) single nucleotide variant not provided [RCV000956122] Chr3:111913651 [GRCh38]
Chr3:111632498 [GRCh37]
Chr3:3q13.2		 benign
NM_001134438.2(PHLDB2):c.616A>C (p.Lys206Gln) single nucleotide variant not specified [RCV004139128] Chr3:111884693 [GRCh38]
Chr3:111603540 [GRCh37]
Chr3:3q13.2		 uncertain significance
GRCh37/hg19 3q13.12-13.31(chr3:107059705-115005256)x1 copy number loss not provided [RCV002472579] Chr3:107059705..115005256 [GRCh37]
Chr3:3q13.12-13.31		 pathogenic
GRCh37/hg19 3q12.3-13.2(chr3:101812245-112174485)x1 copy number loss not provided [RCV001005458] Chr3:101812245..112174485 [GRCh37]
Chr3:3q12.3-13.2		 pathogenic
NM_001134438.2(PHLDB2):c.1345C>T (p.Arg449Cys) single nucleotide variant not specified [RCV004109537] Chr3:111913328 [GRCh38]
Chr3:111632175 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.1694C>G (p.Ser565Cys) single nucleotide variant not specified [RCV004193678] Chr3:111913677 [GRCh38]
Chr3:111632524 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.1036A>G (p.Thr346Ala) single nucleotide variant not specified [RCV004095107] Chr3:111885113 [GRCh38]
Chr3:111603960 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.633G>A (p.Met211Ile) single nucleotide variant not specified [RCV004197530] Chr3:111884710 [GRCh38]
Chr3:111603557 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.328C>T (p.Pro110Ser) single nucleotide variant not specified [RCV004155874] Chr3:111884405 [GRCh38]
Chr3:111603252 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.1592G>A (p.Ser531Asn) single nucleotide variant not specified [RCV004196921] Chr3:111913575 [GRCh38]
Chr3:111632422 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.652G>T (p.Ala218Ser) single nucleotide variant not specified [RCV004230929] Chr3:111884729 [GRCh38]
Chr3:111603576 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.653C>T (p.Ala218Val) single nucleotide variant not specified [RCV004230930] Chr3:111884730 [GRCh38]
Chr3:111603577 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.1682C>T (p.Ala561Val) single nucleotide variant not specified [RCV004120220] Chr3:111913665 [GRCh38]
Chr3:111632512 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.3593A>G (p.Tyr1198Cys) single nucleotide variant not specified [RCV004189366] Chr3:111973789 [GRCh38]
Chr3:111692636 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.3160G>A (p.Glu1054Lys) single nucleotide variant not specified [RCV004182333] Chr3:111966695 [GRCh38]
Chr3:111685542 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.1003C>T (p.Pro335Ser) single nucleotide variant not specified [RCV004096804] Chr3:111885080 [GRCh38]
Chr3:111603927 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.431A>T (p.Glu144Val) single nucleotide variant not specified [RCV004184360] Chr3:111884508 [GRCh38]
Chr3:111603355 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.899A>G (p.Asn300Ser) single nucleotide variant not specified [RCV004102856] Chr3:111884976 [GRCh38]
Chr3:111603823 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.3331C>T (p.Arg1111Cys) single nucleotide variant not specified [RCV004077141] Chr3:111969705 [GRCh38]
Chr3:111688552 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.1922T>C (p.Met641Thr) single nucleotide variant not specified [RCV004069723] Chr3:111920340 [GRCh38]
Chr3:111639187 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.3154C>A (p.Leu1052Met) single nucleotide variant not specified [RCV004163508] Chr3:111966689 [GRCh38]
Chr3:111685536 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134437.2(PHLDB2):c.28G>A (p.Val10Met) single nucleotide variant not specified [RCV004103813] Chr3:111845896 [GRCh38]
Chr3:111564743 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.1234C>G (p.Arg412Gly) single nucleotide variant not specified [RCV004126728] Chr3:111885311 [GRCh38]
Chr3:111604158 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.2423A>G (p.Glu808Gly) single nucleotide variant not specified [RCV004188404] Chr3:111945293 [GRCh38]
Chr3:111664140 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.1439A>G (p.Asn480Ser) single nucleotide variant not specified [RCV004093627] Chr3:111913422 [GRCh38]
Chr3:111632269 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.1039T>A (p.Ser347Thr) single nucleotide variant not specified [RCV004245430] Chr3:111885116 [GRCh38]
Chr3:111603963 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.1781G>T (p.Arg594Leu) single nucleotide variant not specified [RCV004071612] Chr3:111919133 [GRCh38]
Chr3:111637980 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.3332G>A (p.Arg1111His) single nucleotide variant not specified [RCV004079538] Chr3:111969706 [GRCh38]
Chr3:111688553 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.2693C>T (p.Thr898Ile) single nucleotide variant not specified [RCV004108713] Chr3:111952633 [GRCh38]
Chr3:111671480 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.535A>G (p.Met179Val) single nucleotide variant not specified [RCV004179835] Chr3:111884612 [GRCh38]
Chr3:111603459 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.2206C>G (p.Leu736Val) single nucleotide variant not specified [RCV004125795] Chr3:111939550 [GRCh38]
Chr3:111658397 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.674G>C (p.Arg225Thr) single nucleotide variant not specified [RCV004114839] Chr3:111884751 [GRCh38]
Chr3:111603598 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.866A>G (p.Lys289Arg) single nucleotide variant not specified [RCV004232380] Chr3:111884943 [GRCh38]
Chr3:111603790 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.474T>A (p.His158Gln) single nucleotide variant not specified [RCV004124318] Chr3:111884551 [GRCh38]
Chr3:111603398 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.401G>A (p.Arg134Gln) single nucleotide variant not specified [RCV004122551] Chr3:111884478 [GRCh38]
Chr3:111603325 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.2576C>G (p.Ala859Gly) single nucleotide variant not specified [RCV004122604] Chr3:111949020 [GRCh38]
Chr3:111667867 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.3172C>T (p.Arg1058Trp) single nucleotide variant not specified [RCV004180502] Chr3:111967681 [GRCh38]
Chr3:111686528 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.2609C>T (p.Ala870Val) single nucleotide variant not specified [RCV004077303] Chr3:111949053 [GRCh38]
Chr3:111667900 [GRCh37]
Chr3:3q13.2		 likely benign
NM_001134438.2(PHLDB2):c.3346C>T (p.Arg1116Trp) single nucleotide variant not specified [RCV004254842] Chr3:111969720 [GRCh38]
Chr3:111688567 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.683A>G (p.Glu228Gly) single nucleotide variant not specified [RCV004280481] Chr3:111884760 [GRCh38]
Chr3:111603607 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.3746C>T (p.Thr1249Ile) single nucleotide variant not specified [RCV004280480] Chr3:111974547 [GRCh38]
Chr3:111693394 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.1655C>T (p.Pro552Leu) single nucleotide variant not specified [RCV004281056] Chr3:111913638 [GRCh38]
Chr3:111632485 [GRCh37]
Chr3:3q13.2		 uncertain significance
GRCh37/hg19 3q13.13-13.31(chr3:110966195-115843176)x1 copy number loss Chromosome 3q13.31 deletion syndrome [RCV003222552] Chr3:110966195..115843176 [GRCh37]
Chr3:3q13.13-13.31		 pathogenic
NM_001134438.2(PHLDB2):c.1133C>T (p.Ala378Val) single nucleotide variant not specified [RCV004263243] Chr3:111885210 [GRCh38]
Chr3:111604057 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.2549C>G (p.Ser850Cys) single nucleotide variant not specified [RCV004256609] Chr3:111948993 [GRCh38]
Chr3:111667840 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.2879A>G (p.Asn960Ser) single nucleotide variant not specified [RCV004257913] Chr3:111962114 [GRCh38]
Chr3:111680961 [GRCh37]
Chr3:3q13.2		 uncertain significance
NC_000003.12:g.111732624G>A single nucleotide variant not specified [RCV004263124] Chr3:111732624 [GRCh38]
Chr3:111451471 [GRCh37]
Chr3:3q13.2		 likely benign
GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1 copy number loss Chromosome 3q13.31 deletion syndrome [RCV003327614] Chr3:93979547..124774010 [GRCh38]
Chr3:3q11.1-21.2		 pathogenic
NM_001134438.2(PHLDB2):c.394A>G (p.Thr132Ala) single nucleotide variant not specified [RCV004342361] Chr3:111884471 [GRCh38]
Chr3:111603318 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.376G>A (p.Ala126Thr) single nucleotide variant not specified [RCV004346098] Chr3:111884453 [GRCh38]
Chr3:111603300 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.2803T>C (p.Cys935Arg) single nucleotide variant not specified [RCV004354791] Chr3:111953960 [GRCh38]
Chr3:111672807 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.1288C>T (p.Arg430Trp) single nucleotide variant not specified [RCV004353591] Chr3:111885365 [GRCh38]
Chr3:111604212 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.2819C>T (p.Pro940Leu) single nucleotide variant not specified [RCV004336125] Chr3:111953976 [GRCh38]
Chr3:111672823 [GRCh37]
Chr3:3q13.2		 uncertain significance
GRCh37/hg19 3q13.13-13.31(chr3:110398276-113879363)x1 copy number loss not provided [RCV003485398] Chr3:110398276..113879363 [GRCh37]
Chr3:3q13.13-13.31		 uncertain significance
NM_001134438.2(PHLDB2):c.293G>A (p.Gly98Glu) single nucleotide variant not specified [RCV004501234] Chr3:111884370 [GRCh38]
Chr3:111603217 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.55G>C (p.Glu19Gln) single nucleotide variant not specified [RCV004501244] Chr3:111884132 [GRCh38]
Chr3:111602979 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.1651C>T (p.Pro551Ser) single nucleotide variant not specified [RCV004501230] Chr3:111913634 [GRCh38]
Chr3:111632481 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.3082A>G (p.Ser1028Gly) single nucleotide variant not specified [RCV004501235] Chr3:111966617 [GRCh38]
Chr3:111685464 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.3152G>A (p.Arg1051Gln) single nucleotide variant not specified [RCV004501237] Chr3:111966687 [GRCh38]
Chr3:111685534 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.1397G>A (p.Arg466His) single nucleotide variant not specified [RCV004501229] Chr3:111913380 [GRCh38]
Chr3:111632227 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.1747A>G (p.Arg583Gly) single nucleotide variant not specified [RCV004501231] Chr3:111919099 [GRCh38]
Chr3:111637946 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.2245C>T (p.Arg749Cys) single nucleotide variant not specified [RCV004501233] Chr3:111939589 [GRCh38]
Chr3:111658436 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.328C>G (p.Pro110Ala) single nucleotide variant not specified [RCV004501239] Chr3:111884405 [GRCh38]
Chr3:111603252 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.3335A>C (p.Tyr1112Ser) single nucleotide variant not specified [RCV004501240] Chr3:111969709 [GRCh38]
Chr3:111688556 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.1954C>T (p.Arg652Trp) single nucleotide variant not specified [RCV004501232] Chr3:111920372 [GRCh38]
Chr3:111639219 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.3404C>T (p.Thr1135Ile) single nucleotide variant not specified [RCV004501241] Chr3:111969778 [GRCh38]
Chr3:111688625 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.406A>G (p.Ser136Gly) single nucleotide variant not specified [RCV004501243] Chr3:111884483 [GRCh38]
Chr3:111603330 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.1121A>G (p.Asp374Gly) single nucleotide variant not specified [RCV004501228] Chr3:111885198 [GRCh38]
Chr3:111604045 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.3745A>C (p.Thr1249Pro) single nucleotide variant not specified [RCV004501242] Chr3:111974546 [GRCh38]
Chr3:111693393 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.3151C>T (p.Arg1051Trp) single nucleotide variant not specified [RCV004501236] Chr3:111966686 [GRCh38]
Chr3:111685533 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.1717A>G (p.Lys573Glu) single nucleotide variant not specified [RCV004655956] Chr3:111913700 [GRCh38]
Chr3:111632547 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.170G>C (p.Gly57Ala) single nucleotide variant not specified [RCV004655957] Chr3:111884247 [GRCh38]
Chr3:111603094 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.1991A>C (p.Glu664Ala) single nucleotide variant not specified [RCV004655958] Chr3:111920409 [GRCh38]
Chr3:111639256 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.2858G>A (p.Arg953Gln) single nucleotide variant not specified [RCV004655959] Chr3:111954015 [GRCh38]
Chr3:111672862 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.2947A>C (p.Asn983His) single nucleotide variant not specified [RCV004655960] Chr3:111962182 [GRCh38]
Chr3:111681029 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.994C>T (p.Pro332Ser) single nucleotide variant not specified [RCV004657052] Chr3:111885071 [GRCh38]
Chr3:111603918 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.1076A>C (p.Tyr359Ser) single nucleotide variant not specified [RCV004657053] Chr3:111885153 [GRCh38]
Chr3:111604000 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.2534C>T (p.Thr845Met) single nucleotide variant not specified [RCV004657051] Chr3:111948978 [GRCh38]
Chr3:111667825 [GRCh37]
Chr3:3q13.2		 uncertain significance
NM_001134438.2(PHLDB2):c.1414A>G (p.Thr472Ala) single nucleotide variant not specified [RCV004657054] Chr3:111913397 [GRCh38]
Chr3:111632244 [GRCh37]
Chr3:3q13.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6079
Count of miRNA genes:1232
Interacting mature miRNAs:1571
Transcripts:ENST00000393923, ENST00000393925, ENST00000412622, ENST00000431670, ENST00000460365, ENST00000470699, ENST00000477695, ENST00000478584, ENST00000478733, ENST00000478922, ENST00000481953, ENST00000486886, ENST00000491694, ENST00000495180, ENST00000498699
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407284998GWAS933974_Hbody height QTL GWAS933974 (human)2e-16body height (VT:0001253)body height (CMO:0000106)3111932438111932439Human
406973568GWAS622544_Hprotein measurement QTL GWAS622544 (human)5e-13protein measurement3111962488111962489Human
407144908GWAS793884_Hdiastolic blood pressure QTL GWAS793884 (human)0.000007diastolic blood pressurediastolic blood pressure (CMO:0000005)3111794873111794874Human
407186892GWAS835868_Hlipid measurement QTL GWAS835868 (human)0.000003lipid measurementblood lipid measurement (CMO:0000050)3111927205111927206Human
407228876GWAS877852_Hdiastolic blood pressure QTL GWAS877852 (human)3e-12diastolic blood pressurediastolic blood pressure (CMO:0000005)3111794873111794874Human
407089998GWAS738974_Hatrial fibrillation QTL GWAS738974 (human)5e-11atrial fibrillation3111869032111869033Human
406912206GWAS561182_Hlobe attachment QTL GWAS561182 (human)5e-13lobe attachmentear measurement (CMO:0002667)3111918969111918970Human
407001101GWAS650077_HPR interval QTL GWAS650077 (human)2e-08PR intervalPR interval (CMO:0000233)3111911940111911941Human
407090572GWAS739548_Hatrial fibrillation QTL GWAS739548 (human)3e-11atrial fibrillation3111873991111873992Human
406915216GWAS564192_Hfacial morphology QTL GWAS564192 (human)0.000007facial morphology trait (VT:0003743)3111800356111800357Human
407228883GWAS877859_Hdiastolic blood pressure QTL GWAS877859 (human)2e-13diastolic blood pressurediastolic blood pressure (CMO:0000005)3111794873111794874Human
407419550GWAS1068526_Hdiastolic blood pressure QTL GWAS1068526 (human)2e-11diastolic blood pressurediastolic blood pressure (CMO:0000005)3111781155111781156Human
406918554GWAS567530_HAntihypertensive use measurement QTL GWAS567530 (human)2e-09Antihypertensive use measurement3111795760111795761Human
407102943GWAS751919_Hperianal Crohn's disease QTL GWAS751919 (human)0.000002perianal Crohn's disease3111762099111762100Human
406947932GWAS596908_HPR interval QTL GWAS596908 (human)7e-17PR intervalPR interval (CMO:0000233)3111924714111924715Human
407347929GWAS996905_Hlobe attachment QTL GWAS996905 (human)8e-09lobe attachmentear measurement (CMO:0002667)3111749252111749253Human
407188389GWAS837365_Hblood nickel measurement QTL GWAS837365 (human)0.000002blood nickel measurement3111821673111821674Human
407196768GWAS845744_HCleft palate, cleft lip QTL GWAS845744 (human)0.000002Cleft palate, cleft lip3111959786111959787Human
407262830GWAS911806_Hage at diagnosis, type 1 diabetes mellitus QTL GWAS911806 (human)0.000005age at diagnosis, type 1 diabetes mellitus3111874722111874723Human
407222252GWAS871228_Hatrial fibrillation QTL GWAS871228 (human)1e-19atrial fibrillation3111835579111835580Human
407216044GWAS865020_Hatrial fibrillation QTL GWAS865020 (human)2e-15atrial fibrillation3111835579111835580Human
407218606GWAS867582_Hatrial fibrillation QTL GWAS867582 (human)1e-14atrial fibrillation3111835579111835580Human
407109865GWAS758841_Hwaist-hip ratio QTL GWAS758841 (human)6e-08waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)3111962488111962489Human
407193195GWAS842171_Hhemorrhoid QTL GWAS842171 (human)1e-14hemorrhoid3111758501111758502Human
407145259GWAS794235_Hheel bone mineral density, urate measurement QTL GWAS794235 (human)6e-09heel bone mineral density, urate measurementblood uric acid level (CMO:0000501)3111837186111837187Human
407239210GWAS888186_Hsystolic blood pressure QTL GWAS888186 (human)4e-08systolic blood pressuresystolic blood pressure (CMO:0000004)3111794873111794874Human
407133237GWAS782213_Hresponse to thioamide, Drug-induced agranulocytosis QTL GWAS782213 (human)8e-08response to thioamide, Drug-induced agranulocytosis3111868398111868399Human
407381116GWAS1030092_Hdiastolic blood pressure QTL GWAS1030092 (human)5e-10diastolic blood pressurediastolic blood pressure (CMO:0000005)3111781155111781156Human
407229168GWAS878144_Hsystolic blood pressure QTL GWAS878144 (human)0.0000002systolic blood pressuresystolic blood pressure (CMO:0000004)3111794873111794874Human
407169662GWAS818638_Hpeak expiratory flow QTL GWAS818638 (human)2e-09peak expiratory flowmaximum mid-expiratory flow (MMEF) (CMO:0000253)3111785709111785710Human
407206142GWAS855118_HFEV/FVC ratio QTL GWAS855118 (human)5e-08FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)3111909887111909888Human
407294010GWAS942986_Hdiastolic blood pressure QTL GWAS942986 (human)8e-11diastolic blood pressurediastolic blood pressure (CMO:0000005)3111781155111781156Human
406994429GWAS643405_Hvascular endothelial function measurement QTL GWAS643405 (human)0.000005vascular endothelial function measurement3111928945111928946Human

Markers in Region
SHGC-77194  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373111,548,098 - 111,548,238UniSTSGRCh37
Build 363113,030,788 - 113,030,928RGDNCBI36
Cytogenetic Map3q13.2UniSTS
HuRef3108,923,496 - 108,923,636UniSTS
TNG Radiation Hybrid Map363067.0UniSTS
GeneMap99-GB4 RH Map3395.79UniSTS
RH45577  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373111,591,571 - 111,591,766UniSTSGRCh37
Build 363113,074,261 - 113,074,456RGDNCBI36
Celera3109,990,621 - 109,990,816RGD
Cytogenetic Map3q13.2UniSTS
HuRef3108,966,813 - 108,967,008UniSTS
GeneMap99-GB4 RH Map3402.44UniSTS
NCBI RH Map3900.4UniSTS
RH17931  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373111,694,829 - 111,695,050UniSTSGRCh37
Build 363113,177,519 - 113,177,740RGDNCBI36
Celera3110,093,909 - 110,094,130RGD
Cytogenetic Map3q13.2UniSTS
HuRef3109,070,173 - 109,070,394UniSTS
GeneMap99-GB4 RH Map3402.44UniSTS
NCBI RH Map3900.4UniSTS
A009Q05  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371472,175,210 - 72,175,327UniSTSGRCh37
GRCh373111,656,351 - 111,656,471UniSTSGRCh37
Build 363113,139,041 - 113,139,161RGDNCBI36
Celera1452,238,439 - 52,238,556UniSTS
Celera3110,055,426 - 110,055,546RGD
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map14q24.2UniSTS
HuRef3109,031,601 - 109,031,721UniSTS
GeneMap99-GB4 RH Map3402.44UniSTS
NCBI RH Map3900.4UniSTS
SHGC-148219  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373111,546,120 - 111,546,222UniSTSGRCh37
Build 363113,028,810 - 113,028,912RGDNCBI36
Celera3109,946,192 - 109,946,294RGD
Cytogenetic Map3q13.2UniSTS
HuRef3108,921,518 - 108,921,620UniSTS
TNG Radiation Hybrid Map363067.0UniSTS
SHGC-32892  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373111,694,999 - 111,695,139UniSTSGRCh37
Build 363113,177,689 - 113,177,829RGDNCBI36
Celera3110,094,079 - 110,094,219RGD
Cytogenetic Map3q13.2UniSTS
HuRef3109,070,343 - 109,070,483UniSTS
GeneMap99-GB4 RH Map3403.87UniSTS
Whitehead-RH Map3495.6UniSTS
NCBI RH Map3900.4UniSTS
GeneMap99-G3 RH Map35397.0UniSTS
RH12849  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373111,632,390 - 111,632,531UniSTSGRCh37
Build 363113,115,080 - 113,115,221RGDNCBI36
Celera3110,031,462 - 110,031,603RGD
Cytogenetic Map3q13.2UniSTS
HuRef3109,007,640 - 109,007,781UniSTS
GeneMap99-GB4 RH Map3402.57UniSTS
NCBI RH Map3900.4UniSTS
SHGC-12085  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373111,611,731 - 111,611,870UniSTSGRCh37
Build 363113,094,421 - 113,094,560RGDNCBI36
Celera3110,010,779 - 110,010,918RGD
Cytogenetic Map3q13.2UniSTS
HuRef3108,986,971 - 108,987,110UniSTS
Stanford-G3 RH Map34927.0UniSTS
NCBI RH Map3896.1UniSTS
SHGC-77196  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373111,694,335 - 111,694,464UniSTSGRCh37
Build 363113,177,025 - 113,177,154RGDNCBI36
Celera3110,093,415 - 110,093,544RGD
Cytogenetic Map3q13.2UniSTS
HuRef3109,069,679 - 109,069,808UniSTS
TNG Radiation Hybrid Map363180.0UniSTS
GeneMap99-GB4 RH Map3397.47UniSTS
NCBI RH Map3900.4UniSTS
SHGC-58070  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373111,613,764 - 111,613,877UniSTSGRCh37
Build 363113,096,454 - 113,096,567RGDNCBI36
Celera3110,012,811 - 110,012,928RGD
Cytogenetic Map3q13.2UniSTS
HuRef3108,989,004 - 108,989,121UniSTS
TNG Radiation Hybrid Map363108.0UniSTS
RH80031  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8q21.3UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map1p36.12-p35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map18q21.31UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic MapXq21.2UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map11q23UniSTS
G32762  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera3110,055,426 - 110,055,546UniSTS
Cytogenetic Map3q13.2UniSTS
HuRef3109,031,601 - 109,031,721UniSTS
G32743  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373111,485,107 - 111,485,212UniSTSGRCh37
Celera3109,885,044 - 109,885,149UniSTS
Cytogenetic Map3q13.2UniSTS
HuRef3108,860,499 - 108,860,604UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2433 2788 2244 4956 1724 2346 6 624 1863 465 2268 7217 6388 50 3718 1 852 1742 1612 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001134437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001134438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001134439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_145753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC055748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC060225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC117509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF506820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ496194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW264132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA310697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA272187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA438817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA447763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000393923   ⟹   ENSP00000377500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3111,732,497 - 111,976,267 (+)Ensembl
Ensembl Acc Id: ENST00000393925   ⟹   ENSP00000377502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3111,859,796 - 111,976,247 (+)Ensembl
Ensembl Acc Id: ENST00000412622   ⟹   ENSP00000405292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3111,859,180 - 111,976,515 (+)Ensembl
Ensembl Acc Id: ENST00000431670   ⟹   ENSP00000405405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3111,859,265 - 111,976,517 (+)Ensembl
Ensembl Acc Id: ENST00000460365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3111,953,827 - 111,957,244 (+)Ensembl
Ensembl Acc Id: ENST00000470699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3111,958,039 - 111,966,703 (+)Ensembl
Ensembl Acc Id: ENST00000477695   ⟹   ENSP00000418198
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3111,859,760 - 111,917,663 (+)Ensembl
Ensembl Acc Id: ENST00000478584
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3111,953,772 - 111,967,753 (+)Ensembl
Ensembl Acc Id: ENST00000478733   ⟹   ENSP00000491559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3111,884,718 - 111,952,613 (+)Ensembl
Ensembl Acc Id: ENST00000478922   ⟹   ENSP00000417497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3111,859,750 - 111,885,795 (+)Ensembl
Ensembl Acc Id: ENST00000481953   ⟹   ENSP00000418319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3111,883,963 - 111,976,289 (+)Ensembl
Ensembl Acc Id: ENST00000486886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3111,961,945 - 111,976,453 (+)Ensembl
Ensembl Acc Id: ENST00000491694
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3111,939,527 - 111,945,440 (+)Ensembl
Ensembl Acc Id: ENST00000495180   ⟹   ENSP00000420303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3111,911,610 - 111,976,465 (+)Ensembl
Ensembl Acc Id: ENST00000498699   ⟹   ENSP00000418296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3111,859,291 - 111,969,849 (+)Ensembl
Ensembl Acc Id: ENST00000638331   ⟹   ENSP00000492652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3111,948,971 - 111,975,932 (+)Ensembl
Ensembl Acc Id: ENST00000640181
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3111,957,486 - 111,976,209 (+)Ensembl
Ensembl Acc Id: ENST00000640905   ⟹   ENSP00000492282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3111,953,930 - 111,962,312 (+)Ensembl
RefSeq Acc Id: NM_001134437   ⟹   NP_001127909
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383111,732,496 - 111,976,517 (+)NCBI
GRCh373111,451,327 - 111,695,364 (+)RGD
Celera3109,851,286 - 110,094,444 (+)RGD
HuRef3108,826,722 - 109,070,708 (+)ENTREZGENE
CHM1_13111,415,675 - 111,659,409 (+)NCBI
T2T-CHM13v2.03114,453,343 - 114,697,610 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001134438   ⟹   NP_001127910
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383111,859,265 - 111,976,517 (+)NCBI
GRCh373111,451,327 - 111,695,364 (+)RGD
Celera3109,851,286 - 110,094,444 (+)RGD
HuRef3108,826,722 - 109,070,708 (+)ENTREZGENE
CHM1_13111,542,029 - 111,659,409 (+)NCBI
T2T-CHM13v2.03114,580,292 - 114,697,610 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001134439   ⟹   NP_001127911
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383111,859,827 - 111,976,517 (+)NCBI
GRCh373111,451,327 - 111,695,364 (+)RGD
Celera3109,851,286 - 110,094,444 (+)RGD
HuRef3108,826,722 - 109,070,708 (+)ENTREZGENE
CHM1_13111,542,570 - 111,659,409 (+)NCBI
T2T-CHM13v2.03114,580,854 - 114,697,610 (+)NCBI
Sequence:
RefSeq Acc Id: NM_145753   ⟹   NP_665696
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383111,859,180 - 111,976,517 (+)NCBI
GRCh373111,451,327 - 111,695,364 (+)RGD
Build 363113,085,500 - 113,177,826 (+)NCBI Archive
Celera3109,851,286 - 110,094,444 (+)RGD
HuRef3108,826,722 - 109,070,708 (+)ENTREZGENE
CHM1_13111,542,029 - 111,659,409 (+)NCBI
T2T-CHM13v2.03114,580,207 - 114,697,610 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001127909 (Get FASTA)   NCBI Sequence Viewer  
  NP_001127910 (Get FASTA)   NCBI Sequence Viewer  
  NP_001127911 (Get FASTA)   NCBI Sequence Viewer  
  NP_665696 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH31000 (Get FASTA)   NCBI Sequence Viewer  
  AAH38806 (Get FASTA)   NCBI Sequence Viewer  
  AAH69194 (Get FASTA)   NCBI Sequence Viewer  
  AAI42679 (Get FASTA)   NCBI Sequence Viewer  
  AAI50211 (Get FASTA)   NCBI Sequence Viewer  
  AAM33634 (Get FASTA)   NCBI Sequence Viewer  
  BAC04014 (Get FASTA)   NCBI Sequence Viewer  
  BAC04713 (Get FASTA)   NCBI Sequence Viewer  
  BAC86200 (Get FASTA)   NCBI Sequence Viewer  
  BAD93140 (Get FASTA)   NCBI Sequence Viewer  
  BAG59408 (Get FASTA)   NCBI Sequence Viewer  
  CAD42711 (Get FASTA)   NCBI Sequence Viewer  
  CAH10396 (Get FASTA)   NCBI Sequence Viewer  
  CAH10400 (Get FASTA)   NCBI Sequence Viewer  
  CAH18447 (Get FASTA)   NCBI Sequence Viewer  
  CAH56216 (Get FASTA)   NCBI Sequence Viewer  
  CAH56386 (Get FASTA)   NCBI Sequence Viewer  
  EAW79690 (Get FASTA)   NCBI Sequence Viewer  
  EAW79691 (Get FASTA)   NCBI Sequence Viewer  
  EAW79692 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000377500
  ENSP00000377500.3
  ENSP00000377502
  ENSP00000377502.3
  ENSP00000405292
  ENSP00000405292.1
  ENSP00000405405
  ENSP00000405405.2
  ENSP00000417497.1
  ENSP00000418198.1
  ENSP00000418296.1
  ENSP00000418319.1
  ENSP00000420303.1
  ENSP00000491559.1
  ENSP00000492282.1
  ENSP00000492652.1
GenBank Protein Q86SQ0 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001127909   ⟸   NM_001134437
- Peptide Label: isoform b
- UniProtKB: E9PFQ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_665696   ⟸   NM_145753
- Peptide Label: isoform c
- UniProtKB: E9PFQ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001127910   ⟸   NM_001134438
- Peptide Label: isoform a
- UniProtKB: Q8NAB1 (UniProtKB/Swiss-Prot),   Q8N8U8 (UniProtKB/Swiss-Prot),   Q6NT98 (UniProtKB/Swiss-Prot),   Q68CY3 (UniProtKB/Swiss-Prot),   Q59EA8 (UniProtKB/Swiss-Prot),   A5PKZ3 (UniProtKB/Swiss-Prot),   Q8NCU5 (UniProtKB/Swiss-Prot),   Q86SQ0 (UniProtKB/Swiss-Prot),   E9PFQ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001127911   ⟸   NM_001134439
- Peptide Label: isoform a
- UniProtKB: Q8NAB1 (UniProtKB/Swiss-Prot),   Q8N8U8 (UniProtKB/Swiss-Prot),   Q6NT98 (UniProtKB/Swiss-Prot),   Q68CY3 (UniProtKB/Swiss-Prot),   Q59EA8 (UniProtKB/Swiss-Prot),   A5PKZ3 (UniProtKB/Swiss-Prot),   Q8NCU5 (UniProtKB/Swiss-Prot),   Q86SQ0 (UniProtKB/Swiss-Prot),   E9PFQ4 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000418198   ⟸   ENST00000477695
Ensembl Acc Id: ENSP00000417497   ⟸   ENST00000478922
Ensembl Acc Id: ENSP00000491559   ⟸   ENST00000478733
Ensembl Acc Id: ENSP00000405292   ⟸   ENST00000412622
Ensembl Acc Id: ENSP00000492652   ⟸   ENST00000638331
Ensembl Acc Id: ENSP00000420303   ⟸   ENST00000495180
Ensembl Acc Id: ENSP00000418319   ⟸   ENST00000481953
Ensembl Acc Id: ENSP00000492282   ⟸   ENST00000640905
Ensembl Acc Id: ENSP00000418296   ⟸   ENST00000498699
Ensembl Acc Id: ENSP00000405405   ⟸   ENST00000431670
Ensembl Acc Id: ENSP00000377502   ⟸   ENST00000393925
Ensembl Acc Id: ENSP00000377500   ⟸   ENST00000393923
Protein Domains
PH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86SQ0-F1-model_v2 AlphaFold Q86SQ0 1-1253 view protein structure

Promoters
RGD ID:6865220
Promoter ID:EPDNEW_H5775
Type:initiation region
Name:PHLDB2_1
Description:pleckstrin homology like domain family B member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5776  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383111,859,265 - 111,859,325EPDNEW
RGD ID:6865222
Promoter ID:EPDNEW_H5776
Type:initiation region
Name:PHLDB2_2
Description:pleckstrin homology like domain family B member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5775  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383111,859,844 - 111,859,904EPDNEW
RGD ID:6801411
Promoter ID:HG_KWN:45819
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000309086,   UC003DYI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363113,112,281 - 113,112,781 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29573 AgrOrtholog
COSMIC PHLDB2 COSMIC
Ensembl Genes ENSG00000144824 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000393923 ENTREZGENE
  ENST00000393923.7 UniProtKB/Swiss-Prot
  ENST00000393925 ENTREZGENE
  ENST00000393925.7 UniProtKB/Swiss-Prot
  ENST00000412622 ENTREZGENE
  ENST00000412622.5 UniProtKB/Swiss-Prot
  ENST00000431670 ENTREZGENE
  ENST00000431670.7 UniProtKB/Swiss-Prot
  ENST00000477695.5 UniProtKB/TrEMBL
  ENST00000478733.6 UniProtKB/TrEMBL
  ENST00000478922.1 UniProtKB/TrEMBL
  ENST00000481953.5 UniProtKB/Swiss-Prot
  ENST00000495180.1 UniProtKB/TrEMBL
  ENST00000498699.5 UniProtKB/TrEMBL
  ENST00000638331.1 UniProtKB/TrEMBL
  ENST00000640905.1 UniProtKB/TrEMBL
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000144824 GTEx
HGNC ID HGNC:29573 ENTREZGENE
Human Proteome Map PHLDB2 Human Proteome Map
InterPro PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PHLDB1/2/3_PH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:90102 UniProtKB/Swiss-Prot
NCBI Gene 90102 ENTREZGENE
OMIM 610298 OMIM
PANTHER PLECKSTRIN HOMOLOGY-LIKE DOMAIN FAMILY B MEMBER 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLECKSTRIN HOMOLOGY-LIKE DOMAIN, FAMILY B, MEMBER 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PF00169 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134884060 PharmGKB
PROSITE PH_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00233 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1W2PQ63_HUMAN UniProtKB/TrEMBL
  A0A1W2PRJ2_HUMAN UniProtKB/TrEMBL
  A0A1W2PRT1_HUMAN UniProtKB/TrEMBL
  A5PKZ3 ENTREZGENE
  E9PDY7_HUMAN UniProtKB/TrEMBL
  E9PFQ4 ENTREZGENE, UniProtKB/TrEMBL
  E9PGF6_HUMAN UniProtKB/TrEMBL
  G5E9V3_HUMAN UniProtKB/TrEMBL
  PHLB2_HUMAN UniProtKB/Swiss-Prot
  Q59EA8 ENTREZGENE
  Q68CY3 ENTREZGENE
  Q6NT98 ENTREZGENE
  Q86SQ0 ENTREZGENE
  Q8IXY4_HUMAN UniProtKB/TrEMBL
  Q8N8U8 ENTREZGENE
  Q8NAB1 ENTREZGENE
  Q8NCU5 ENTREZGENE
  Q8NEI7_HUMAN UniProtKB/TrEMBL
UniProt Secondary A5PKZ3 UniProtKB/Swiss-Prot
  Q59EA8 UniProtKB/Swiss-Prot
  Q68CY3 UniProtKB/Swiss-Prot
  Q6NT98 UniProtKB/Swiss-Prot
  Q8N8U8 UniProtKB/Swiss-Prot
  Q8NAB1 UniProtKB/Swiss-Prot
  Q8NCU5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 PHLDB2  pleckstrin homology like domain family B member 2    pleckstrin homology-like domain, family B, member 2  Symbol and/or name change 5135510 APPROVED