HOXB7 (homeobox B7) - Rat Genome Database

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Gene: HOXB7 (homeobox B7) Homo sapiens
Analyze
Symbol: HOXB7
Name: homeobox B7
RGD ID: 1349103
HGNC Page HGNC:5118
Description: Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in embryonic organ development and positive regulation of transcription by RNA polymerase II. Located in cytosol and nuclear body. Biomarker of esophagus squamous cell carcinoma; invasive ductal carcinoma; and lung adenocarcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: HHO.C1; homeo box 2C; homeo box B7; homeo box c1 protein; homeobox protein HHO.C1; homeobox protein Hox-2C; homeobox protein Hox-B7; Hox-2.3; HOX2; HOX2C
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
GRCh381748,607,232 - 48,611,017 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1748,607,232 - 48,633,572 (-)EnsemblGRCh38hg38GRCh38
GRCh371746,684,594 - 46,688,379 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361744,039,593 - 44,043,382 (-)NCBINCBI36Build 36hg18NCBI36
Build 341744,039,592 - 44,043,378NCBI
Celera1743,138,752 - 43,142,544 (-)NCBICelera
Cytogenetic Map17q21.32NCBI
HuRef1742,053,408 - 42,057,199 (-)NCBIHuRef
CHM1_11746,750,558 - 46,754,368 (-)NCBICHM1_1
T2T-CHM13v2.01749,470,825 - 49,474,612 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model



  
Object Symbol
Species
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Original Reference(s)
HOXB7Humanesophagus squamous cell carcinoma severityIEP 10402177protein:increased expression:esophageal mucosa (human)RGD 
HOXB7Humaninvasive ductal carcinoma  IEP 10402178mRNA:increased expression:breast epithelium (human)RGD 
HOXB7Humanlung adenocarcinoma severityIEP 10402176protein:increased expression:lung epithelium (human)RGD 
Object Symbol
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Original Reference(s)
HOXB7Humanhereditary breast ovarian cancer syndrome  IAGPRGD:4083826508554872ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1ClinVarPMID:38922859

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Original Reference(s)
HOXB7Human1,2-dimethylhydrazine multiple interactionsISORGD:15599186480464[APC protein affects the susceptibility to 1,2-Dimethylhydrazine] which results in increased expression of HOXB7 mRNACTDPMID:27840820
HOXB7Human1,2-dimethylhydrazine decreases expressionISORGD:155712664804641,2-Dimethylhydrazine results in decreased expression of HOXB7 mRNACTDPMID:22206623
HOXB7Human17alpha-ethynylestradiol increases expressionISORGD:15571266480464Ethinyl Estradiol results in increased expression of HOXB7 mRNACTDPMID:17942748
HOXB7Human17alpha-ethynylestradiol multiple interactionsISORGD:15571266480464[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of HOXB7 mRNACTDPMID:17942748
HOXB7Human17beta-estradiol decreases expressionEXP 6480464Estradiol results in decreased expression of HOXB7 mRNACTDPMID:23019147|PMID:31614463
HOXB7Human17beta-estradiol multiple interactionsEXP 6480464[Estradiol co-treated with TGFB1 protein] results in increased expression of HOXB7 mRNACTDPMID:30165855
HOXB7Human2,2',4,4'-Tetrabromodiphenyl ether affects methylationEXP 64804642,2',4,4'-tetrabromodiphenyl ether affects the methylation of HOXB7 geneCTDPMID:32653021
HOXB7Human2,3,7,8-tetrachlorodibenzodioxine affects expressionISORGD:15571266480464Tetrachlorodibenzodioxin affects the expression of HOXB7 mRNACTDPMID:24058054
HOXB7Human2,3,7,8-tetrachlorodibenzodioxine increases expressionISORGD:15599186480464Tetrachlorodibenzodioxin results in increased expression of HOXB7 mRNACTDPMID:34747641
HOXB7Human2,3,7,8-tetrachlorodibenzodioxine increases expressionISORGD:15571266480464Tetrachlorodibenzodioxin results in increased expression of HOXB7 mRNACTDPMID:17942748
HOXB7Human2,3,7,8-tetrachlorodibenzodioxine multiple interactionsISORGD:15571266480464[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of HOXB7 mRNA; Tetrachlorodibenzodioxin promotes the more ...CTDPMID:17942748|PMID:19654925
HOXB7Human6-propyl-2-thiouracil decreases expressionISORGD:15599186480464Propylthiouracil results in decreased expression of HOXB7 mRNACTDPMID:30047161
HOXB7Humanabacavir increases expressionEXP 6480464abacavir results in increased expression of HOXB7 mRNACTDPMID:31711903
HOXB7Humanaflatoxin B1 decreases methylationEXP 6480464Aflatoxin B1 results in decreased methylation of HOXB7 geneCTDPMID:27153756
HOXB7Humanall-trans-retinoic acid increases expressionISORGD:15571266480464Tretinoin results in increased expression of HOXB7 mRNACTDPMID:16845368
HOXB7Humanall-trans-retinoic acid increases expressionEXP 6480464Tretinoin results in increased expression of HOXB7 mRNACTDPMID:21934132
HOXB7Humanamitrole decreases expressionISORGD:15599186480464Amitrole results in decreased expression of HOXB7 mRNACTDPMID:30047161
HOXB7Humanammonium chloride affects expressionISORGD:15599186480464Ammonium Chloride affects the expression of HOXB7 mRNACTDPMID:16483693
HOXB7Humanamosite asbestos decreases methylationEXP 6480464Asbestos, Amosite results in decreased methylation of HOXB7 promoterCTDPMID:29626692
HOXB7Humanaristolochic acid A increases expressionEXP 6480464aristolochic acid I results in increased expression of HOXB7 mRNACTDPMID:33212167

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Biological Process
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Original Reference(s)
HOXB7Humananterior/posterior pattern specification involved_inIBAFB:FBgn0000014|FB:FBgn0260642|MGI:96177|MGI:96178|MGI:96179|MGI:96186|MGI:96187|MGI:96188|MGI:96196|MGI:96197|PANTHER:PTN002388214|WB:WBGene00001174150520179 GO_CentralGO_REF:0000033
HOXB7Humananterior/posterior pattern specification acts_upstream_of_or_withinIEAUniProtKB:P09024|ensembl:ENSMUSP00000040121150520179 EnsemblGO_REF:0000107
HOXB7Humanembryonic organ development involved_inIEP 150520179 PMID:2885844UniProtPMID:2885844
HOXB7Humanembryonic skeletal system morphogenesis acts_upstream_of_or_withinIEAUniProtKB:P09024|ensembl:ENSMUSP00000040121150520179 EnsemblGO_REF:0000107
HOXB7Humanmyeloid cell differentiation acts_upstream_of_or_withinIEAUniProtKB:P09024|ensembl:ENSMUSP00000040121150520179 EnsemblGO_REF:0000107
HOXB7Humanpositive regulation of branching involved in ureteric bud morphogenesis involved_inIEAUniProtKB:P09024|ensembl:ENSMUSP00000040121150520179 EnsemblGO_REF:0000107
HOXB7Humanpositive regulation of transcription by RNA polymerase II involved_inIDA 150520179 PMID:8756643NTNU_SBPMID:8756643
HOXB7Humanregulation of DNA-templated transcription involved_inNAS 150520179 PMID:1678287UniProtPMID:1678287
HOXB7Humanregulation of DNA-templated transcription involved_inIEAInterPro:IPR001827|InterPro:IPR017970|InterPro:IPR017995150520179 InterProGO_REF:0000002
HOXB7Humanregulation of transcription by RNA polymerase II involved_inIBAFB:FBgn0000014|FB:FBgn0001077|FB:FBgn0003944|FB:FBgn0260642|MGI:96177|MGI:96179|MGI:96186|PANTHER:PTN002388214|UniProtKB:P09629|UniProtKB:P20719|UniProtKB:P31268|WB:WBGene00001174150520179 GO_CentralGO_REF:0000033
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Cellular Component
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Original Reference(s)
HOXB7Humanchromatin located_inISAtfclass:3.1.1150520179 NTNU_SBGO_REF:0000113
HOXB7Humancytosol located_inIDA 150520179 HPAGO_REF:0000052
HOXB7Humannuclear body located_inIDA 150520179 HPAGO_REF:0000052
HOXB7Humannucleoplasm located_inIDA 150520179 HPAGO_REF:0000052
HOXB7Humannucleus located_inIEAUniProtKB-KW:KW-0539150520179 UniProtGO_REF:0000043
HOXB7Humannucleus is_active_inIBAFB:FBgn0000014|FB:FBgn0003944|FB:FBgn0260642|MGI:96177|MGI:96179|MGI:96186|PANTHER:PTN002388214|UniProtKB:P09067|UniProtKB:P09629|UniProtKB:P09630|UniProtKB:P20719|UniProtKB:P31267|UniProtKB:P31268|UniProtKB:Q00444|WB:WBGene00001174150520179 GO_CentralGO_REF:0000033
HOXB7Humannucleus located_inIEAInterPro:IPR017995150520179 InterProGO_REF:0000002
HOXB7Humannucleus located_inIEAUniProtKB-SubCell:SL-0191150520179 UniProtGO_REF:0000044
HOXB7Humannucleus located_inNAS 150520179 PMID:1678287UniProtPMID:1678287
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Molecular Function
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Original Reference(s)
HOXB7HumanDNA binding enablesIEAUniProtKB-KW:KW-0238|UniProtKB-KW:KW-0371150520179 UniProtGO_REF:0000043
HOXB7HumanDNA binding enablesIEAInterPro:IPR001356|InterPro:IPR001827|InterPro:IPR017995|InterPro:IPR020479150520179 InterProGO_REF:0000002
HOXB7HumanDNA binding enablesIEAUniProtKB:P09024|ensembl:ENSMUSP00000040121150520179 EnsemblGO_REF:0000107
HOXB7HumanDNA-binding transcription activator activity, RNA polymerase II-specific enablesIDA 150520179 PMID:8756643NTNU_SBPMID:8756643
HOXB7HumanDNA-binding transcription factor activity enablesNAS 150520179 PMID:1678287UniProtPMID:1678287
HOXB7HumanDNA-binding transcription factor activity enablesIEAInterPro:IPR001827|InterPro:IPR017995150520179 InterProGO_REF:0000002
HOXB7HumanDNA-binding transcription factor activity, RNA polymerase II-specific enablesISAtfclass:3.1.1150520179 NTNU_SBGO_REF:0000113
HOXB7HumanDNA-binding transcription factor activity, RNA polymerase II-specific enablesIBAFB:FBgn0000014|FB:FBgn0001077|FB:FBgn0260642|MGI:96186|PANTHER:PTN002388214|UniProtKB:P09629|UniProtKB:P20719|UniProtKB:P31268150520179 GO_CentralGO_REF:0000033
HOXB7HumanDNA-binding transcription factor activity, RNA polymerase II-specific enablesIEAInterPro:IPR017970150520179 InterProGO_REF:0000002
HOXB7Humanprotein binding enablesIPIUniProtKB:P13010|UniProtKB:P78527150520179 PMID:17308091IntActPMID:17308091
HOXB7Humanprotein binding enablesIPIUniProtKB:P49761150520179 PMID:25416956, PMID:32296183IntActPMID:25416956|PMID:32296183
HOXB7Humanprotein binding enablesIPIUniProtKB:G5E9A7|UniProtKB:P22607|UniProtKB:Q7Z699150520179 PMID:32814053IntActPMID:32814053
HOXB7HumanRNA polymerase II cis-regulatory region sequence-specific DNA binding enablesIDA 150520179 PMID:8756643NTNU_SBPMID:8756643
HOXB7HumanRNA polymerase II cis-regulatory region sequence-specific DNA binding enablesIBAFB:FBgn0001077|FB:FBgn0003944|MGI:96186|PANTHER:PTN002388214|UniProtKB:P09629|UniProtKB:P20719|UniProtKB:P31268150520179 GO_CentralGO_REF:0000033
HOXB7Humansequence-specific double-stranded DNA binding enablesIDA 150520179 PMID:28473536ARUK-UCLPMID:28473536
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#
Reference Title
Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Deregulated HOXB7 Expression Predicts Poor Prognosis of Patients with Esophageal Squamous Cell Carcinoma and Regulates Cancer Cell Proliferation In Vitro and In Vivo. Li H, etal., PLoS One. 2015 Jun 15;10(6):e0130551. doi: 10.1371/journal.pone.0130551. eCollection 2015.
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. HOXB7, a homeodomain protein, is overexpressed in breast cancer and confers epithelial-mesenchymal transition. Wu X, etal., Cancer Res. 2006 Oct 1;66(19):9527-34.
5. Role of HOXB7 in regulation of progression and metastasis of human lung adenocarcinoma. Yuan W, etal., Mol Carcinog. 2014 Jan;53(1):49-57. doi: 10.1002/mc.21947. Epub 2012 Aug 21.
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PMID:1358459   PMID:1678287   PMID:1973146   PMID:1981366   PMID:2570724   PMID:2573064   PMID:2574852   PMID:2576652   PMID:2885844   PMID:7530503   PMID:7729685   PMID:7738096  
PMID:8105782   PMID:8125298   PMID:8570656   PMID:8646877   PMID:8756643   PMID:9366523   PMID:9457903   PMID:9681827   PMID:10026139   PMID:10208421   PMID:10233891   PMID:10435624  
PMID:11290787   PMID:11522651   PMID:11585930   PMID:11857506   PMID:12477932   PMID:12697323   PMID:14973489   PMID:15342556   PMID:15756441   PMID:16597639   PMID:16673309   PMID:17203973  
PMID:17274802   PMID:17308091   PMID:17514648   PMID:18029348   PMID:19878270   PMID:19956843   PMID:20480203   PMID:21183939   PMID:21474578   PMID:21690342   PMID:21832049   PMID:21873635  
PMID:21953534   PMID:21988832   PMID:22239410   PMID:22553335   PMID:22603795   PMID:22844406   PMID:22879911   PMID:22914903   PMID:23400877   PMID:23861821   PMID:24088503   PMID:24641834  
PMID:24853421   PMID:25183455   PMID:25416956   PMID:25428821   PMID:25542862   PMID:25565354   PMID:26014856   PMID:26135503   PMID:26180042   PMID:26186194   PMID:26307396   PMID:26403398  
PMID:26902420   PMID:26968988   PMID:26991799   PMID:27272787   PMID:27834359   PMID:27855613   PMID:27901487   PMID:27983923   PMID:28454092   PMID:28473536   PMID:28482289   PMID:28514442  
PMID:28533224   PMID:28646927   PMID:28677742   PMID:28749115   PMID:28912272   PMID:29576613   PMID:30067384   PMID:30317675   PMID:30388035   PMID:30537478   PMID:30664713   PMID:30890185  
PMID:30951946   PMID:31103063   PMID:31568655   PMID:31609764   PMID:32296183   PMID:32393512   PMID:32626939   PMID:32814053   PMID:33155195   PMID:33782039   PMID:33961781   PMID:34680970  
PMID:35351402   PMID:36823512   PMID:38127104   PMID:38254070  
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HOXB7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381748,607,232 - 48,611,017 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1748,607,232 - 48,633,572 (-)EnsemblGRCh38hg38GRCh38
GRCh371746,684,594 - 46,688,379 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361744,039,593 - 44,043,382 (-)NCBINCBI36Build 36hg18NCBI36
Build 341744,039,592 - 44,043,378NCBI
Celera1743,138,752 - 43,142,544 (-)NCBICelera
Cytogenetic Map17q21.32NCBI
HuRef1742,053,408 - 42,057,199 (-)NCBIHuRef
CHM1_11746,750,558 - 46,754,368 (-)NCBICHM1_1
T2T-CHM13v2.01749,470,825 - 49,474,612 (-)NCBIT2T-CHM13v2.0
Hoxb7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391196,176,431 - 96,180,989 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1196,177,449 - 96,180,988 (+)EnsemblGRCm39 Ensembl
GRCm381196,285,604 - 96,290,163 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1196,286,623 - 96,290,162 (+)EnsemblGRCm38mm10GRCm38
MGSCv371196,147,960 - 96,151,477 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361196,102,736 - 96,106,253 (+)NCBIMGSCv36mm8
Celera11105,937,695 - 105,941,023 (+)NCBICelera
Cytogenetic Map11DNCBI
cM Map1159.82NCBI
Hoxb7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81081,749,159 - 81,752,577 (+)NCBIGRCr8
mRatBN7.21081,252,616 - 81,256,034 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1081,252,553 - 81,256,034 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1086,201,625 - 86,205,048 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01085,699,654 - 85,703,077 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01081,092,131 - 81,095,549 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01084,135,224 - 84,138,642 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1084,135,116 - 84,138,637 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01083,937,956 - 83,941,374 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41085,017,440 - 85,020,858 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1080,018,777 - 80,022,203 (+)NCBICelera
Cytogenetic Map10q26NCBI
Hoxb7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545112,630,276 - 12,634,634 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545112,630,276 - 12,634,641 (+)NCBIChiLan1.0ChiLan1.0
HOXB7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21916,489,202 - 16,495,459 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11718,457,366 - 18,461,059 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0178,925,717 - 8,929,523 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1179,110,864 - 9,114,648 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl179,110,864 - 9,114,639 (+)Ensemblpanpan1.1panPan2
HOXB7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1924,870,037 - 24,874,517 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl924,870,612 - 24,873,453 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha924,333,918 - 24,337,778 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0925,664,498 - 25,668,940 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl925,664,496 - 25,667,914 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1924,432,601 - 24,437,043 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0924,693,167 - 24,697,014 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0924,821,454 - 24,825,898 (-)NCBIUU_Cfam_GSD_1.0
Hoxb7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560224,294,536 - 24,298,742 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649012,777,020 - 12,780,522 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649012,777,005 - 12,780,515 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HOXB7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1224,861,174 - 24,864,620 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11224,861,165 - 24,864,675 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21224,858,518 - 24,862,011 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HOXB7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11669,020,325 - 69,024,362 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1669,020,906 - 69,023,671 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607740,075,961 - 40,079,413 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hoxb7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247955,105,622 - 5,108,367 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247955,105,032 - 5,109,379 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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Variants in HOXB7
26 total Variants

1 to 10 of 272 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3 copy number gain See cases [RCV000052925] Chr19:49907832..58557889 [GRCh38]
Chr19:50411089..59069256 [GRCh37]
Chr19:55102901..63761068 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
NM_016553.5(NUP62):c.848G>C (p.Ser283Thr) single nucleotide variant Infantile bilateral striatal necrosis [RCV001787922]|NUP62-related disorder [RCV003975031]|not provided [RCV001514104]|not specified [RCV000117866] Chr19:49908960 [GRCh38]
Chr19:50412217 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_001193646.1(ATF5):c.440C>T (p.Ser147Phe) single nucleotide variant Malignant melanoma [RCV000063600] Chr19:49932683 [GRCh38]
Chr19:50435940 [GRCh37]
Chr19:55127752 [NCBI36]
Chr19:19q13.33		 not provided
NM_016553.5(NUP62):c.1172A>C (p.Gln391Pro) single nucleotide variant Infantile bilateral striatal necrosis [RCV000005018] Chr19:49908636 [GRCh38]
Chr19:50411893 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_001193646.1(ATF5):c.807C>T (p.Ile269=) single nucleotide variant Malignant melanoma [RCV000063601] Chr19:49933050 [GRCh38]
Chr19:50436307 [GRCh37]
Chr19:55128119 [NCBI36]
Chr19:19q13.33		 not provided
NM_016553.5(NUP62):c.648C>T (p.Ser216=) single nucleotide variant Infantile bilateral striatal necrosis [RCV001787921]|not provided [RCV001519352]|not specified [RCV000117865] Chr19:49909160 [GRCh38]
Chr19:50412417 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_016553.5(NUP62):c.1323T>C (p.Asp441=) single nucleotide variant Infantile bilateral striatal necrosis [RCV001787920]|not provided [RCV001519351]|not specified [RCV000117863] Chr19:49908485 [GRCh38]
Chr19:50411742 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_016553.5(NUP62):c.549G>A (p.Thr183=) single nucleotide variant NUP62-related disorder [RCV003915156]|not provided [RCV001521717]|not specified [RCV000117864] Chr19:49909259 [GRCh38]
Chr19:50412516 [GRCh37]
Chr19:19q13.33		 benign|likely benign
1 to 10 of 272 rows

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR196A1hsa-miR-196a-5pMirtarbaseexternal_infoImmunofluorescence//Luciferase reporter assay//qRTFunctional MTI20480203
MIR196A1hsa-miR-196a-5pOncomiRDBexternal_infoNANA20480203
MIR196A2hsa-miR-196a-5pMirtarbaseexternal_infoImmunofluorescence//Luciferase reporter assay//qRTFunctional MTI20480203
MIR196A2hsa-miR-196a-5pOncomiRDBexternal_infoNANA20480203

Predicted Target Of
Summary Value
Count of predictions:605
Count of miRNA genes:362
Interacting mature miRNAs:403
Transcripts:ENST00000239165, ENST00000467314, ENST00000567101
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


1 to 10 of 11 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
597026596GWAS1122670_Hsystolic blood pressure QTL GWAS1122670 (human)0.0000004systolic blood pressuresystolic blood pressure (CMO:0000004)174861089448610895Human
597027153GWAS1123227_Hsystolic blood pressure QTL GWAS1123227 (human)2e-09systolic blood pressuresystolic blood pressure (CMO:0000004)174860947848609479Human
597199372GWAS1295446_Hdiastolic blood pressure QTL GWAS1295446 (human)0.000005diastolic blood pressurediastolic blood pressure (CMO:0000005)174861089448610895Human
596953538GWAS1073057_Hdiastolic blood pressure QTL GWAS1073057 (human)2e-08diastolic blood pressure174860947848609479Human
597067216GWAS1163290_Hsystolic blood pressure QTL GWAS1163290 (human)7e-10systolic blood pressuresystolic blood pressure (CMO:0000004)174861089448610895Human
597026077GWAS1122151_Hmean arterial pressure QTL GWAS1122151 (human)0.0000005mean arterial pressuremean arterial blood pressure (CMO:0000009)174861089448610895Human
597067420GWAS1163494_Hhypertension QTL GWAS1163494 (human)0.000001hypertension174861089448610895Human
597067291GWAS1163365_Hpulse pressure measurement QTL GWAS1163365 (human)0.0000001pulse pressure measurementpulse pressure (CMO:0000292)174861089448610895Human
597129194GWAS1225268_Hpulse pressure measurement QTL GWAS1225268 (human)3e-17systolic blood pressuresystolic blood pressure (CMO:0000004)174861089448610895Human
597038121GWAS1134195_Hdiastolic blood pressure QTL GWAS1134195 (human)2e-08hip bone mineral densitybone mineral density (CMO:0001226)174860947848609479Human

1 to 10 of 11 rows
HOXB7_1567  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371746,684,566 - 46,685,404UniSTSGRCh37
Build 361744,039,565 - 44,040,403RGDNCBI36
Celera1743,138,724 - 43,139,562RGD
HuRef1742,053,380 - 42,054,218UniSTS




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
renal system
reproductive system
respiratory system
sensory system
1204 2431 2787 2195 4059 1687 2324 5 601 1872 448 2255 7146 6327 52 2838 851 1724 1607 165


1 to 18 of 18 rows
RefSeq Transcripts NM_004502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC103702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF284825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF287967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ414528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG118354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM923808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP342702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ233410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M16937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M30598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S49765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 18 of 18 rows

Ensembl Acc Id: ENST00000239165   ⟹   ENSP00000239165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,607,232 - 48,611,017 (-)Ensembl
Ensembl Acc Id: ENST00000467314
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,607,716 - 48,608,326 (-)Ensembl
Ensembl Acc Id: ENST00000567101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,607,627 - 48,633,572 (-)Ensembl
RefSeq Acc Id: NM_004502   ⟹   NP_004493
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381748,607,232 - 48,611,017 (-)NCBI
GRCh371746,684,594 - 46,688,383 (-)ENTREZGENE
Build 361744,039,593 - 44,043,382 (-)NCBI Archive
HuRef1742,053,408 - 42,057,199 (-)ENTREZGENE
CHM1_11746,750,558 - 46,754,368 (-)NCBI
T2T-CHM13v2.01749,470,825 - 49,474,612 (-)NCBI
Sequence:
RefSeq Acc Id: NP_004493   ⟸   NM_004502
- UniProtKB: Q53FN3 (UniProtKB/Swiss-Prot),   Q15957 (UniProtKB/Swiss-Prot),   A8K3N8 (UniProtKB/Swiss-Prot),   Q96BQ6 (UniProtKB/Swiss-Prot),   P09629 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000239165   ⟸   ENST00000239165

Name Modeler Protein Id AA Range Protein Structure
AF-P09629-F1-model_v2 AlphaFold P09629 1-217 view protein structure

RGD ID:6794212
Promoter ID:HG_KWN:26500
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:NM_004502
Position:
Human AssemblyChrPosition (strand)Source
Build 361744,042,881 - 44,044,357 (-)MPROMDB
RGD ID:7235515
Promoter ID:EPDNEW_H23503
Type:initiation region
Name:HOXB7_1
Description:homeobox B7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23504  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381748,611,000 - 48,611,060EPDNEW
RGD ID:7235517
Promoter ID:EPDNEW_H23504
Type:initiation region
Name:HOXB7_2
Description:homeobox B7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23503  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381748,613,517 - 48,613,577EPDNEW


1 to 40 of 40 rows
Database
Acc Id
Source(s)
COSMIC HOXB7 COSMIC
Ensembl Genes ENSG00000260027 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000239165 ENTREZGENE
  ENST00000239165.9 UniProtKB/Swiss-Prot
Gene3D-CATH Homeodomain-like UniProtKB/Swiss-Prot
GTEx ENSG00000260027 GTEx
HGNC ID HGNC:5118 ENTREZGENE
Human Proteome Map HOXB7 Human Proteome Map
InterPro Antp_homeobox UniProtKB/Swiss-Prot
  Homeobox-like_sf UniProtKB/Swiss-Prot
  Homeobox_antennapedia UniProtKB/Swiss-Prot
  Homeobox_Antennapedia_CS UniProtKB/Swiss-Prot
  Homeobox_CS UniProtKB/Swiss-Prot
  Homeobox_dom UniProtKB/Swiss-Prot
  Homeobox_metazoa UniProtKB/Swiss-Prot
KEGG Report hsa:3217 UniProtKB/Swiss-Prot
NCBI Gene 3217 ENTREZGENE
OMIM 142962 OMIM
PANTHER HOMEOBOX PROTEIN HOX UniProtKB/Swiss-Prot
  HOMEOBOX PROTEIN HOX-B7 UniProtKB/Swiss-Prot
Pfam Homeodomain UniProtKB/Swiss-Prot
PharmGKB PA29394 PharmGKB
PRINTS ANTENNAPEDIA UniProtKB/Swiss-Prot
  HOMEOBOX UniProtKB/Swiss-Prot
PROSITE ANTENNAPEDIA UniProtKB/Swiss-Prot
  HOMEOBOX_1 UniProtKB/Swiss-Prot
  HOMEOBOX_2 UniProtKB/Swiss-Prot
SMART HOX UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46689 UniProtKB/Swiss-Prot
UniProt A8K3N8 ENTREZGENE
  HXB7_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q15957 ENTREZGENE
  Q53FN3 ENTREZGENE
  Q96BQ6 ENTREZGENE
  Q9HB12_HUMAN UniProtKB/TrEMBL
  Q9HB28_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8K3N8 UniProtKB/Swiss-Prot
  Q15957 UniProtKB/Swiss-Prot
  Q53FN3 UniProtKB/Swiss-Prot
  Q96BQ6 UniProtKB/Swiss-Prot
1 to 40 of 40 rows