HOXB7 (homeobox B7) - Rat Genome Database

Name: HOXB7
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

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

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Hoxb7 (homeobox B7)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Hoxb7 (homeo box B7)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoMCL, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Hoxb7 (homeobox B7)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	HOXB7 (homeobox B7)	NCBI	Ortholog
Canis lupus familiaris (dog):	HOXB7 (homeobox B7)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Hoxb7 (homeobox B7)	NCBI	Ortholog
Sus scrofa (pig):	HOXB7 (homeobox B7)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	HOXB7 (homeobox B7)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Hoxb7 (homeobox B7)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Hoxa7 (homeobox A7)	HGNC	OrthoDB
Rattus norvegicus (Norway rat):	Hoxa7 (homeobox A7)	HGNC	OrthoDB
Sus scrofa (pig):	HOXA7 (homeobox A7)	HGNC	OrthoDB
Rattus norvegicus (Norway rat):	Prr12 (proline rich 12)	HGNC	OMA
Alliance orthologs ³
Mus musculus (house mouse):	Hoxb7 (homeobox B7)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Hoxb7 (homeo box B7)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	hoxb7a (homeobox B7a)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	Antp	Alliance	DIOPT (Ensembl Compara\|OrthoInspector\|PANTHER\|SonicParanoid)
Xenopus laevis (African clawed frog):	hoxb7.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	hoxb7.S	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	48,607,232 - 48,611,017 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	48,607,232 - 48,633,572 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	46,684,594 - 46,688,379 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	44,039,593 - 44,043,382 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	44,039,592 - 44,043,378	NCBI
Celera	17	43,138,752 - 43,142,544 (-)	NCBI		Celera
Cytogenetic Map	17	q21.32	NCBI
HuRef	17	42,053,408 - 42,057,199 (-)	NCBI		HuRef
CHM1_1	17	46,750,558 - 46,754,368 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	17	49,470,825 - 49,474,612 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

esophagus squamous cell carcinoma (IEP)

invasive ductal carcinoma (IEP)

lung adenocarcinoma (IEP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP)

2,2',4,4'-Tetrabromodiphenyl ether (EXP)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

6-propyl-2-thiouracil (ISO)

abacavir (EXP)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP,ISO)

amitrole (ISO)

ammonium chloride (ISO)

amosite asbestos (EXP)

aristolochic acid A (EXP)

Aroclor 1254 (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (EXP,ISO)

bleomycin A5 (EXP)

caffeine (EXP)

carbon nanotube (ISO)

CHIR 99021 (EXP)

chlordecone (ISO)

crocidolite asbestos (EXP)

decabromodiphenyl ether (ISO)

ethyl methanesulfonate (EXP)

ethylene glycol (EXP)

folic acid (ISO)

fulvestrant (EXP)

furan (ISO)

gentamycin (ISO)

lipopolysaccharide (EXP)

methanol (EXP)

methimazole (ISO)

methyl methanesulfonate (EXP)

mono(2-ethylhexyl) phthalate (EXP)

nickel atom (EXP)

nilotinib (EXP)

perfluorodecanoic acid (ISO)

perfluorononanoic acid (ISO)

perfluorooctanoic acid (ISO)

phenytoin (EXP)

pirinixic acid (ISO)

potassium dichromate (ISO)

S-(1,2-dichlorovinyl)-L-cysteine (EXP)

SB 431542 (EXP)

serpentine asbestos (EXP)

sulfadimethoxine (ISO)

temozolomide (EXP)

testosterone enanthate (EXP)

thalidomide (EXP)

titanium dioxide (ISO)

triclosan (EXP)

valproic acid (EXP,ISO)

vincristine (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

anterior/posterior pattern specification (IBA,IEA,ISO)

embryonic organ development (IEP)

embryonic skeletal system morphogenesis (IEA,ISO)

myeloid cell differentiation (IEA,ISO)

positive regulation of branching involved in ureteric bud morphogenesis (IEA)

positive regulation of transcription by RNA polymerase II (IDA)

regulation of DNA-templated transcription (IEA,NAS)

regulation of transcription by RNA polymerase II (IBA,IEA)

Cellular Component

chromatin (ISA)

cytosol (IDA)

nuclear body (IDA)

nucleoplasm (IDA)

nucleus (IBA,IEA,NAS)

Molecular Function

DNA binding (IEA)

DNA-binding transcription activator activity, RNA polymerase II-specific (IDA)

DNA-binding transcription factor activity (IEA,NAS)

DNA-binding transcription factor activity, RNA polymerase II-specific (IBA,IEA,ISA)

protein binding (IPI)

RNA polymerase II cis-regulatory region sequence-specific DNA binding (IBA,IDA)

RNA polymerase II transcription regulatory region sequence-specific DNA binding (IEA)

sequence-specific double-stranded DNA binding (IDA)

References

References - curated

#	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.

Additional References at PubMed

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

Genomics

Comparative Map Data

HOXB7
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	48,607,232 - 48,611,017 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	48,607,232 - 48,633,572 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	46,684,594 - 46,688,379 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	44,039,593 - 44,043,382 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	44,039,592 - 44,043,378	NCBI
Celera	17	43,138,752 - 43,142,544 (-)	NCBI		Celera
Cytogenetic Map	17	q21.32	NCBI
HuRef	17	42,053,408 - 42,057,199 (-)	NCBI		HuRef
CHM1_1	17	46,750,558 - 46,754,368 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	17	49,470,825 - 49,474,612 (-)	NCBI		T2T-CHM13v2.0

Hoxb7
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	96,176,431 - 96,180,989 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	11	96,177,449 - 96,180,988 (+)	Ensembl		GRCm39 Ensembl
GRCm38	11	96,285,604 - 96,290,163 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	96,286,623 - 96,290,162 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	96,147,960 - 96,151,477 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	11	96,102,736 - 96,106,253 (+)	NCBI		MGSCv36	mm8
Celera	11	105,937,695 - 105,941,023 (+)	NCBI		Celera
Cytogenetic Map	11	D	NCBI
cM Map	11	59.82	NCBI

Hoxb7
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	10	81,749,159 - 81,752,577 (+)	NCBI		GRCr8
mRatBN7.2	10	81,252,616 - 81,256,034 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	81,252,553 - 81,256,034 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	10	86,201,625 - 86,205,048 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	10	85,699,654 - 85,703,077 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	10	81,092,131 - 81,095,549 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	10	84,135,224 - 84,138,642 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	84,135,116 - 84,138,637 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	10	83,937,956 - 83,941,374 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	85,017,440 - 85,020,858 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	10	80,018,777 - 80,022,203 (+)	NCBI		Celera
Cytogenetic Map	10	q26	NCBI

Hoxb7
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955451	12,630,276 - 12,634,634 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955451	12,630,276 - 12,634,641 (+)	NCBI	ChiLan1.0	ChiLan1.0

HOXB7
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	19	16,489,202 - 16,495,459 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	17	18,457,366 - 18,461,059 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	17	8,925,717 - 8,929,523 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	17	9,110,864 - 9,114,648 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	17	9,110,864 - 9,114,639 (+)	Ensembl	panpan1.1		panPan2

HOXB7
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	9	24,870,037 - 24,874,517 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	9	24,870,612 - 24,873,453 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	9	24,333,918 - 24,337,778 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	9	25,664,498 - 25,668,940 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	9	25,664,496 - 25,667,914 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	9	24,432,601 - 24,437,043 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	9	24,693,167 - 24,697,014 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	9	24,821,454 - 24,825,898 (-)	NCBI		UU_Cfam_GSD_1.0

Hoxb7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405602	24,294,536 - 24,298,742 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936490	12,777,020 - 12,780,522 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936490	12,777,005 - 12,780,515 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

HOXB7
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	12	24,861,174 - 24,864,620 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	12	24,861,165 - 24,864,675 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	12	24,858,518 - 24,862,011 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

HOXB7
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	16	69,020,325 - 69,024,362 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	16	69,020,906 - 69,023,671 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666077	40,075,961 - 40,079,413 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Hoxb7
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624795	5,105,622 - 5,108,367 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624795	5,105,032 - 5,109,379 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in HOXB7
12 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	copy number gain	See cases [RCV000050957]	Chr17:36449220..68170214 [GRCh38] Chr17:48563237..65936105 [GRCh37] Chr17:45918236..63677950 [NCBI36] Chr17:17q21.33-24.2	pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]\|See cases [RCV000052483]	Chr17:36449220..83086677 [GRCh38] Chr17:58617905..81044553 [GRCh37] Chr17:55972687..78637842 [NCBI36] Chr17:17q23.2-25.3	pathogenic
GRCh38/hg38 17q21.31-21.33(chr17:44955325-49381173)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052480]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052480]\|See cases [RCV000052480]	Chr17:44955325..49381173 [GRCh38] Chr17:43032693..47458535 [GRCh37] Chr17:40388219..44813534 [NCBI36] Chr17:17q21.31-21.33	pathogenic
GRCh38/hg38 17q21.32-21.33(chr17:48520885-49511208)x1	copy number loss	See cases [RCV000053431]	Chr17:48520885..49511208 [GRCh38] Chr17:46598247..47588570 [GRCh37] Chr17:43953246..44943569 [NCBI36] Chr17:17q21.32-21.33	pathogenic
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	copy number gain	See cases [RCV000137437]	Chr17:36449220..75053130 [GRCh38] Chr17:57595736..73049225 [GRCh37] Chr17:54950518..70560820 [NCBI36] Chr17:17q23.1-25.1	pathogenic
GRCh38/hg38 17q21.32-21.33(chr17:47986886-49329397)x1	copy number loss	See cases [RCV000142900]	Chr17:47986886..49329397 [GRCh38] Chr17:46064252..47406759 [GRCh37] Chr17:43419251..44761758 [NCBI36] Chr17:17q21.32-21.33	pathogenic
GRCh38/hg38 17q21.32-21.33(chr17:48450628-49552921)x3	copy number gain	See cases [RCV000143451]	Chr17:48450628..49552921 [GRCh38] Chr17:46527990..47630283 [GRCh37] Chr17:43882989..44985282 [NCBI36] Chr17:17q21.32-21.33	uncertain significance
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	copy number gain	See cases [RCV000447823]	Chr17:42580684..81085615 [GRCh37] Chr17:17q21.31-25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	copy number gain	See cases [RCV000511439]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1	copy number loss	not provided [RCV000513510]	Chr17:46481089..51396368 [GRCh37] Chr17:17q21.32-22	likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	copy number gain	See cases [RCV000512441]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3	copy number gain	not provided [RCV000739324]	Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3	copy number gain	not provided [RCV000739320]	Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3	copy number gain	not provided [RCV000739325]	Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
NM_004502.4(HOXB7):c.204G>C (p.Gln68His)	single nucleotide variant	not specified [RCV004313465]	Chr17:48610715 [GRCh38] Chr17:46688077 [GRCh37] Chr17:17q21.32	uncertain significance
NM_004502.4(HOXB7):c.155C>T (p.Ala52Val)	single nucleotide variant	not specified [RCV004237241]	Chr17:48610764 [GRCh38] Chr17:46688126 [GRCh37] Chr17:17q21.32	uncertain significance
NM_004502.4(HOXB7):c.475A>G (p.Asn159Asp)	single nucleotide variant	not specified [RCV004116536]	Chr17:48608021 [GRCh38] Chr17:46685383 [GRCh37] Chr17:17q21.32	uncertain significance
NM_004502.4(HOXB7):c.286C>T (p.Leu96Phe)	single nucleotide variant	not specified [RCV004078628]	Chr17:48610633 [GRCh38] Chr17:46687995 [GRCh37] Chr17:17q21.32	uncertain significance
NM_004502.4(HOXB7):c.331A>G (p.Lys111Glu)	single nucleotide variant	not specified [RCV004125774]	Chr17:48610588 [GRCh38] Chr17:46687950 [GRCh37] Chr17:17q21.32	uncertain significance
NM_004502.4(HOXB7):c.338A>G (p.Gln113Arg)	single nucleotide variant	not specified [RCV004190281]	Chr17:48610581 [GRCh38] Chr17:46687943 [GRCh37] Chr17:17q21.32	uncertain significance
NM_004502.4(HOXB7):c.512C>T (p.Ala171Val)	single nucleotide variant	not specified [RCV004248611]	Chr17:48607984 [GRCh38] Chr17:46685346 [GRCh37] Chr17:17q21.32	uncertain significance
NM_004502.4(HOXB7):c.341G>A (p.Arg114Lys)	single nucleotide variant	not specified [RCV004263400]	Chr17:48610578 [GRCh38] Chr17:46687940 [GRCh37] Chr17:17q21.32	uncertain significance
NM_004502.4(HOXB7):c.596C>T (p.Ala199Val)	single nucleotide variant	not specified [RCV004278074]	Chr17:48607900 [GRCh38] Chr17:46685262 [GRCh37] Chr17:17q21.32	uncertain significance
GRCh37/hg19 17q21.32(chr17:46612536-46845102)x3	copy number gain	not provided [RCV003485159]	Chr17:46612536..46845102 [GRCh37] Chr17:17q21.32	uncertain significance
NM_004502.4(HOXB7):c.233A>G (p.Tyr78Cys)	single nucleotide variant	not provided [RCV003429141]	Chr17:48610686 [GRCh38] Chr17:46688048 [GRCh37] Chr17:17q21.32	likely benign
NM_004502.4(HOXB7):c.144C>G (p.Gly48=)	single nucleotide variant	not provided [RCV003419770]	Chr17:48610775 [GRCh38] Chr17:46688137 [GRCh37] Chr17:17q21.32	likely benign
NM_004502.4(HOXB7):c.180C>T (p.Pro60=)	single nucleotide variant	not provided [RCV003413260]	Chr17:48610739 [GRCh38] Chr17:46688101 [GRCh37] Chr17:17q21.32	likely benign
NM_004502.4(HOXB7):c.217G>A (p.Val73Ile)	single nucleotide variant	not specified [RCV004402019]	Chr17:48610702 [GRCh38] Chr17:46688064 [GRCh37] Chr17:17q21.32	uncertain significance
NM_004502.4(HOXB7):c.271C>T (p.Pro91Ser)	single nucleotide variant	not specified [RCV004402020]	Chr17:48610648 [GRCh38] Chr17:46688010 [GRCh37] Chr17:17q21.32	uncertain significance
NM_004502.4(HOXB7):c.631G>A (p.Ala211Thr)	single nucleotide variant	not specified [RCV004402021]	Chr17:48607865 [GRCh38] Chr17:46685227 [GRCh37] Chr17:17q21.32	uncertain significance

miRNA Target Status

Confirmed Target Of

miRNA Gene	Mature miRNA	Method Name	Result Type	Data Type	Support Type	PMID
MIR196A1	hsa-miR-196a-5p	Mirtarbase	external_info	Immunofluorescence//Luciferase reporter assay//qRT	Functional MTI	20480203
MIR196A1	hsa-miR-196a-5p	OncomiRDB	external_info	NA	NA	20480203
MIR196A2	hsa-miR-196a-5p	Mirtarbase	external_info	Immunofluorescence//Luciferase reporter assay//qRT	Functional MTI	20480203
MIR196A2	hsa-miR-196a-5p	OncomiRDB	external_info	NA	NA	20480203

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.

Markers in Region

HOXB7_1567

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	46,684,566 - 46,685,404	UniSTS	GRCh37
Build 36	17	44,039,565 - 44,040,403	RGD	NCBI36
Celera	17	43,138,724 - 43,139,562	RGD
HuRef	17	42,053,380 - 42,054,218	UniSTS

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

entire extraembryonic component

High

Medium

900

183

217

417

812

368

382

406

229

935

245

Low

1321

1116

853

202

795

169

3351

1487

570

970

1226

269

2486

Below cutoff

210

1559

617

371

660

247

178

609

1900

148

124

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


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

RefSeq Acc Id:

ENST00000239165 ⟹ ENSP00000239165

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	48,607,232 - 48,611,017 (-)	Ensembl

RefSeq Acc Id:

ENST00000467314

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	48,607,716 - 48,608,326 (-)	Ensembl

RefSeq Acc Id:

ENST00000567101

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	48,607,627 - 48,633,572 (-)	Ensembl

RefSeq Acc Id:

NM_004502 ⟹ NP_004493

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	48,607,232 - 48,611,017 (-)	NCBI
GRCh37	17	46,684,594 - 46,688,383 (-)	ENTREZGENE
Build 36	17	44,039,593 - 44,043,382 (-)	NCBI Archive
HuRef	17	42,053,408 - 42,057,199 (-)	ENTREZGENE
CHM1_1	17	46,750,558 - 46,754,368 (-)	NCBI
T2T-CHM13v2.0	17	49,470,825 - 49,474,612 (-)	NCBI

Sequence:

show sequence

CTTTTTGGTGTAAATCTGGACTCTAATTCTGTAATATATCAAGGAATCTCGTAAAACCGACACT
AAAACGTCCCTGCCTACAAATCATCCGGCCAAATTATGAGTTCATTGTATTATGCGAATACTTT
ATTTTCTAAATATCCAGCCTCAAGTTCGGTTTTCGCTACCGGAGCCTTCCCAGAACAAACTTCT
TGTGCGTTTGCTTCCAACCCCCAGCGCCCGGGCTATGGAGCGGGTTCGGGCGCTTCCTTCGCCG
CCTCGATGCAGGGCTTGTACCCCGGCGGGGGGGGCATGGCGGGCCAGAGCGCGGCCGGCGTCTA
CGCGGCCGGCTATGGGCTCGAGCCGAGTTCCTTCAACATGCACTGCGCGCCCTTTGAGCAGAAC
CTCTCCGGGGTGTGTCCCGGCGACTCCGCCAAGGCGGCGGGCGCCAAGGAGCAGAGGGACTCGG
ACTTGGCGGCCGAGAGTAACTTCCGGATCTACCCCTGGATGCGAAGCTCAGGAACTGACCGCAA
ACGAGGCCGCCAGACCTACACCCGCTACCAGACCCTGGAGCTGGAGAAAGAATTTCACTACAAT
CGCTACCTGACGCGGCGGCGGCGCATCGAGATCGCGCACACGCTCTGCCTCACGGAAAGACAGA
TCAAGATTTGGTTTCAGAACCGGCGCATGAAGTGGAAAAAGGAGAACAAGACCGCGGGCCCGGG
GACCACCGGCCAAGACAGGGCTGAAGCAGAGGAGGAAGAGGAAGAGTGAGGGATGGAGAAAGGG
CAGAGGAAGAGACATGAGAAAGGGAGAGGAAGAGAAGCCCAGCTCTGGGAACTGAATCAGGAAA
CTCAAATCGAATAGGGAAGTAAAAAAACAAAACAAAAAACAAAAAAAACAAAAAAAAAACCCTA
TTTAAATGAAAGGAGTTTAAAAACATTTTTTAAGGAGGGAGAAAGGAGAAATTTTGGTTTTTCA
ACACTGAAAAAATACTACCTATAGGAAAGTCTGTCAGGTTTGGTTTTTTTGTACAATATGAAAA
GGATATTATCTACCTGTTCTGTAGCTTTCTGGAATTTACCTCCCCTTTTCTATGTTGCTATTGT
AAGGTCTTTGTAAAATCTTGCAGTTTTGTAAGCCCTCTTTAATGCTGTCTTTGTGGACTGTGGG
TCTGGACTAACCCTGTGGTTGCCTGCCCTCCTGAGCCTCCGCCTTCCCAGCAGCGGCACCAAGG
GGCCTTAGGGAGCCCCAAAACCTACCACTCGCGTGTTCCCCAAGCGCCTGGCTGCTGCTTCTTG
CTTCCCGTCCCCCAGCCCCATGCTCCCTTTTACATTCTGTGTGTATCTAAAGGATGGAAAAATA
AAACGCAATTAAAAATAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_004493	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA36003	(Get FASTA)	NCBI Sequence Viewer
	AAA36005	(Get FASTA)	NCBI Sequence Viewer
	AAB19469	(Get FASTA)	NCBI Sequence Viewer
	AAG29814	(Get FASTA)	NCBI Sequence Viewer
	AAG31551	(Get FASTA)	NCBI Sequence Viewer
	AAH15345	(Get FASTA)	NCBI Sequence Viewer
	BAD96969	(Get FASTA)	NCBI Sequence Viewer
	BAF83342	(Get FASTA)	NCBI Sequence Viewer
	CAC93674	(Get FASTA)	NCBI Sequence Viewer
	EAW94725	(Get FASTA)	NCBI Sequence Viewer
	EAW94726	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000239165
	ENSP00000239165.7
GenBank Protein	P09629	(Get FASTA)	NCBI Sequence Viewer

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:	show sequence MSSLYYANTLFSKYPASSSVFATGAFPEQTSCAFASNPQRPGYGAGSGASFAASMQGLYPGGGG MAGQSAAGVYAAGYGLEPSSFNMHCAPFEQNLSGVCPGDSAKAAGAKEQRDSDLAAESNFRIYP WMRSSGTDRKRGRQTYTRYQTLELEKEFHYNRYLTRRRRIEIAHTLCLTERQIKIWFQNRRMKW KKENKTAGPGTTGQDRAEAEEEEEE hide sequence

RefSeq Acc Id:

ENSP00000239165 ⟸ ENST00000239165

Protein Structures

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

Promoters

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 Assembly	Chr	Position (strand)	Source
Build 36	17	44,042,881 - 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 Assembly	Chr	Position (strand)	Source
GRCh38	17	48,611,000 - 48,611,060	EPDNEW

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 Assembly	Chr	Position (strand)	Source
GRCh38	17	48,613,517 - 48,613,577	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:5118	AgrOrtholog
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	Homeobox-like_sf	UniProtKB/Swiss-Prot
	Homeobox_antennapedia	UniProtKB/Swiss-Prot
	Homeobox_Antennapedia_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	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 B7	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HOMEOBOX DOMAIN-CONTAINING PROTEIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Homeodomain	UniProtKB/Swiss-Prot
PharmGKB	PA29394	PharmGKB
PRINTS	ANTENNAPEDIA	UniProtKB/Swiss-Prot
	HOMEOBOX	UniProtKB/Swiss-Prot
PROSITE	ANTENNAPEDIA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	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

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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