FBXO2 (F-box protein 2) - Rat Genome Database

Name: FBXO2
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

Gene: FBXO2 (F-box protein 2) Homo sapiens

Analyze

Symbol:

FBXO2

Name:

F-box protein 2

RGD ID:

732900

HGNC Page

HGNC:13581

Description:

Predicted to enable ubiquitin-protein transferase activity. Predicted to contribute to ubiquitin protein ligase activity. Predicted to be involved in protein catabolic process and protein ubiquitination. Predicted to act upstream of or within regulation of protein ubiquitination and ubiquitin-dependent protein catabolic process. Located in cytoplasm.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

F-box gene 1; F-box only protein 2; FBG1; Fbs1; FBX2; neural f box protein nfb42; NFB42; OCP1; organ of Corti protein 1

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):	Fbxo2 (F-box protein 2)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Fbxo2 (F-box protein 2)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Fbxo2 (F-box protein 2)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	FBXO2 (F-box protein 2)	NCBI	Ortholog
Canis lupus familiaris (dog):	FBXO2 (F-box protein 2)	HGNC	HomoloGene, NCBI
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Fbxo2 (F-box protein 2)	NCBI	Ortholog
Sus scrofa (pig):	FBXO2 (F-box protein 2)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	FBXO2 (F-box protein 2)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Fbxo2 (F-box protein 2)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Fbxo2 (F-box protein 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Fbxo2 (F-box protein 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	zgc:175088	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|OrthoFinder\|PANTHER\|PhylomeDB\|ZFIN)
Caenorhabditis elegans (roundworm):	C14B1.3	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|OrthoFinder\|PANTHER\|SonicParanoid)

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	1	11,648,387 - 11,654,429 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	11,637,018 - 11,655,785 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	11,708,444 - 11,714,486 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	11,631,035 - 11,637,326 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	11,642,715 - 11,649,005	NCBI
Celera	1	10,820,505 - 10,826,801 (-)	NCBI		Celera
Cytogenetic Map	1	p36.22	NCBI
HuRef	1	10,862,510 - 10,868,984 (-)	NCBI		HuRef
CHM1_1	1	11,696,402 - 11,702,875 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	1	11,192,423 - 11,198,481 (-)	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

Charcot-Marie-Tooth disease type 2 (IAGP)

chromosome 1p36 deletion syndrome (IAGP)

Familial Atrial Fibrillation 6 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17beta-estradiol (EXP)

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

2-methoxyethanol (ISO)

6-propyl-2-thiouracil (ISO)

aflatoxin B1 (EXP)

ammonium chloride (ISO)

antirheumatic drug (EXP)

atrazine (EXP)

benzo[a]pyrene (EXP,ISO)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (ISO)

C60 fullerene (ISO)

cadmium dichloride (EXP)

calcitriol (EXP)

chrysene (ISO)

cisplatin (EXP)

copper(II) sulfate (EXP)

cyclosporin A (EXP)

cytarabine (EXP)

dextran sulfate (ISO)

diazinon (EXP)

dibutyl phthalate (ISO)

dicrotophos (EXP)

dieldrin (ISO)

dorsomorphin (EXP)

elemental selenium (EXP)

endosulfan (ISO)

entinostat (EXP)

ethanol (EXP,ISO)

flavonoids (ISO)

folic acid (ISO)

gentamycin (ISO)

isobutanol (EXP)

ivermectin (EXP)

ketamine (ISO)

lead(0) (EXP)

N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal (ISO)

nickel dichloride (ISO)

niclosamide (EXP)

ozone (ISO)

panobinostat (EXP)

paracetamol (EXP,ISO)

perfluorooctanoic acid (EXP)

propanal (EXP)

quercetin (EXP)

SB 431542 (EXP)

selenium atom (EXP)

serpentine asbestos (EXP)

silicon dioxide (EXP)

silver atom (ISO)

silver(0) (ISO)

Soman (ISO)

sulforaphane (EXP)

sunitinib (EXP)

T-2 toxin (ISO)

trichostatin A (EXP)

triclosan (EXP)

valproic acid (EXP,ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

ERAD pathway (IBA,IEA,ISO)

glycoprotein catabolic process (IBA,IEA,ISO,ISS)

negative regulation of cell population proliferation (IEA,ISO)

protein modification process (TAS)

protein ubiquitination (IEA,ISS)

proteolysis (TAS)

regulation of protein catabolic process at postsynapse, modulating synaptic transmission (IEA)

regulation of protein ubiquitination (IEA,ISO)

SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (IBA,IEA,ISS)

ubiquitin-dependent protein catabolic process (IEA,ISO)

Cellular Component

cytoplasm (IBA,IDA,IEA)

cytosol (IEA,ISS,TAS)

dendritic spine (IEA)

endoplasmic reticulum (IEA)

extrinsic component of postsynaptic membrane (IEA,ISO)

glutamatergic synapse (IEA,ISO)

membrane (IEA)

postsynapse (ISO)

SCF ubiquitin ligase complex (IBA,IEA,ISS)

Molecular Function

amyloid-beta binding (IEA)

carbohydrate binding (IEA)

denatured protein binding (IEA)

protein binding (IPI)

ubiquitin protein ligase activity (IBA)

ubiquitin-protein transferase activity (TAS)

Molecular Pathway Annotations Click to see Annotation Detail View

Endoplasmic Reticulum-associated degradation pathway (IEA)

ubiquitin/proteasome degradation pathway (IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:7458746	PMID:9857061	PMID:10531035	PMID:10531037	PMID:12140560	PMID:12383498	PMID:12477932	PMID:12904574	PMID:15109709	PMID:15342556	PMID:15489334	PMID:15723043
PMID:16226712	PMID:16275327	PMID:16682404	PMID:16710414	PMID:17116465	PMID:17389369	PMID:17494702	PMID:18203720	PMID:18284940	PMID:19028597	PMID:19159283	PMID:20682791
PMID:20854419	PMID:21135578	PMID:21378169	PMID:21565611	PMID:21873635	PMID:22917612	PMID:23319600	PMID:23376485	PMID:25416956	PMID:25820252	PMID:26186194	PMID:26295339
PMID:26460611	PMID:27487926	PMID:27705803	PMID:27756846	PMID:28341977	PMID:28514442	PMID:28534482	PMID:29103612	PMID:29117863	PMID:29269301	PMID:29791485	PMID:31210753
PMID:31980649	PMID:32296183	PMID:32549792	PMID:32931479	PMID:32984335	PMID:33549845	PMID:33665565	PMID:33961781	PMID:34515398	PMID:34593639	PMID:35063084	PMID:35525855
PMID:35831314	PMID:35944360	PMID:36244648	PMID:37576703

Genomics

Comparative Map Data

FBXO2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	11,648,387 - 11,654,429 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	11,637,018 - 11,655,785 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	11,708,444 - 11,714,486 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	11,631,035 - 11,637,326 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	11,642,715 - 11,649,005	NCBI
Celera	1	10,820,505 - 10,826,801 (-)	NCBI		Celera
Cytogenetic Map	1	p36.22	NCBI
HuRef	1	10,862,510 - 10,868,984 (-)	NCBI		HuRef
CHM1_1	1	11,696,402 - 11,702,875 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	1	11,192,423 - 11,198,481 (-)	NCBI		T2T-CHM13v2.0

Fbxo2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	148,244,605 - 148,250,874 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	148,245,078 - 148,250,881 (+)	Ensembl		GRCm39 Ensembl
GRCm38	4	148,160,198 - 148,166,420 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	148,160,621 - 148,166,424 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	147,534,777 - 147,540,526 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	147,004,468 - 147,010,217 (+)	NCBI		MGSCv36	mm8
Celera	4	150,422,125 - 150,427,887 (+)	NCBI		Celera
Cytogenetic Map	4	E2	NCBI
cM Map	4	78.68	NCBI

Fbxo2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	163,876,079 - 163,881,508 (+)	NCBI		GRCr8
mRatBN7.2	5	158,592,926 - 158,598,355 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	158,592,925 - 158,598,355 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	5	161,309,703 - 161,315,130 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	5	163,131,494 - 163,136,941 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	5	163,087,839 - 163,093,286 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	5	164,972,483 - 164,977,912 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	164,972,480 - 164,977,916 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	168,630,521 - 168,635,950 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	165,239,080 - 165,244,509 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	5	165,249,267 - 165,254,697 (+)	NCBI
Celera	5	156,871,142 - 156,876,571 (+)	NCBI		Celera
Cytogenetic Map	5	q36	NCBI

Fbxo2
(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_004955486	2,212,001 - 2,218,017 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955486	2,212,001 - 2,217,260 (+)	NCBI	ChiLan1.0	ChiLan1.0

FBXO2
(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	1	216,571,838 - 216,577,899 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	215,217,956 - 215,224,017 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	10,408,853 - 10,415,174 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	11,626,713 - 11,633,171 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	11,626,713 - 11,633,171 (-)	Ensembl	panpan1.1		panPan2

FBXO2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	2	84,563,256 - 84,568,507 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	2	84,556,547 - 84,568,491 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	2	81,095,467 - 81,100,690 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	2	85,226,074 - 85,231,298 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	2	85,226,182 - 85,231,052 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	2	81,975,039 - 81,980,259 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	2	82,975,760 - 82,980,978 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	2	84,038,529 - 84,043,752 (+)	NCBI		UU_Cfam_GSD_1.0

Fbxo2
(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_024405058	34,696,457 - 34,701,333 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936474	521,123 - 526,959 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936474	521,235 - 526,151 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

FBXO2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	71,740,677 - 71,748,923 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	71,740,647 - 71,747,265 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	65,660,557 - 65,663,671 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

FBXO2
(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	20	120,136,630 - 120,144,119 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	20	120,136,702 - 120,144,258 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666054	24,005,047 - 24,011,590 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Fbxo2
(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_004624818	1,299,067 - 1,309,667 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624818	1,300,191 - 1,311,245 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in FBXO2
16 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 1p36.22-36.21(chr1:11654070-12768656)x3	copy number gain	See cases [RCV000051460]	Chr1:11654070..12768656 [GRCh38] Chr1:11714127..12828807 [GRCh37] Chr1:11636714..12751394 [NCBI36] Chr1:1p36.22-36.21	uncertain significance
GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	copy number gain	See cases [RCV000051794]	Chr1:6652339..12724844 [GRCh38] Chr1:6712399..12784811 [GRCh37] Chr1:6634986..12707398 [NCBI36] Chr1:1p36.31-36.21	pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6853513-17326813)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]\|See cases [RCV000051795]	Chr1:6853513..17326813 [GRCh38] Chr1:6913573..17685411 [GRCh37] Chr1:6836160..17557998 [NCBI36] Chr1:1p36.31-36.13	pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:2963330-12666744)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]\|See cases [RCV000053713]	Chr1:2963330..12666744 [GRCh38] Chr1:2879895..12726755 [GRCh37] Chr1:2869755..12649342 [NCBI36] Chr1:1p36.32-36.21	pathogenic
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	copy number loss	See cases [RCV000053714]	Chr1:3006193..17688934 [GRCh38] Chr1:2922757..18015429 [GRCh37] Chr1:2912617..17888016 [NCBI36] Chr1:1p36.32-36.13	pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	copy number loss	See cases [RCV000053724]	Chr1:4898439..13111056 [GRCh38] Chr1:4958499..13178528 [GRCh37] Chr1:4858359..13101115 [NCBI36] Chr1:1p36.32-36.21	pathogenic
GRCh38/hg38 1p36.22-36.12(chr1:10556797-22557907)x1	copy number loss	See cases [RCV000053760]	Chr1:10556797..22557907 [GRCh38] Chr1:10616854..22884400 [GRCh37] Chr1:10539441..22756987 [NCBI36] Chr1:1p36.22-36.12	pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	copy number loss	See cases [RCV000053763]	Chr1:10621776..16520709 [GRCh38] Chr1:10681833..16847204 [GRCh37] Chr1:10604420..16719791 [NCBI36] Chr1:1p36.22-36.13	pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	copy number loss	See cases [RCV000053765]	Chr1:10809039..16422500 [GRCh38] Chr1:10869096..16748995 [GRCh37] Chr1:10791683..16621582 [NCBI36] Chr1:1p36.22-36.13	pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	copy number loss	See cases [RCV000053766]	Chr1:11121625..16324498 [GRCh38] Chr1:11181682..16650993 [GRCh37] Chr1:11104269..16523580 [NCBI36] Chr1:1p36.22-36.13	pathogenic
GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	copy number loss	See cases [RCV000053755]	Chr1:7165036..13111056 [GRCh38] Chr1:7225096..13178528 [GRCh37] Chr1:7147683..13101115 [NCBI36] Chr1:1p36.23-36.21	pathogenic
GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	copy number loss	See cases [RCV000053756]	Chr1:9034671..16441465 [GRCh38] Chr1:9094730..16767960 [GRCh37] Chr1:9017317..16640547 [NCBI36] Chr1:1p36.23-36.13	pathogenic
GRCh38/hg38 1p36.22-36.21(chr1:9406722-12852772)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053757]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053757]\|See cases [RCV000053757]	Chr1:9406722..12852772 [GRCh38] Chr1:9466781..12912625 [GRCh37] Chr1:9389368..12835212 [NCBI36] Chr1:1p36.22-36.21	pathogenic
GRCh38/hg38 1p36.22(chr1:10203955-12060262)x1	copy number loss	See cases [RCV000053758]	Chr1:10203955..12060262 [GRCh38] Chr1:10264013..12120319 [GRCh37] Chr1:10186600..12042906 [NCBI36] Chr1:1p36.22	pathogenic
GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1	copy number loss	See cases [RCV000133779]	Chr1:9064492..12666744 [GRCh38] Chr1:9124551..12726755 [GRCh37] Chr1:9047138..12649342 [NCBI36] Chr1:1p36.23-36.21	pathogenic
GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	copy number loss	See cases [RCV000135807]	Chr1:8283694..12470133 [GRCh38] Chr1:8343754..12530188 [GRCh37] Chr1:8266341..12452775 [NCBI36] Chr1:1p36.23-36.22	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	copy number loss	See cases [RCV000136695]	Chr1:844347..12470133 [GRCh38] Chr1:779727..12530188 [GRCh37] Chr1:769590..12452775 [NCBI36] Chr1:1p36.33-36.22	pathogenic\|likely pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	copy number loss	See cases [RCV000137461]	Chr1:4898439..12911913 [GRCh38] Chr1:4958499..12971757 [GRCh37] Chr1:4858359..12894344 [NCBI36] Chr1:1p36.32-36.21	pathogenic
GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	copy number loss	See cases [RCV000137948]	Chr1:6303641..15799093 [GRCh38] Chr1:6363701..16125588 [GRCh37] Chr1:6286288..15998175 [NCBI36] Chr1:1p36.31-36.21	pathogenic\|likely benign
GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	copy number loss	See cases [RCV000140873]	Chr1:9428538..15815791 [GRCh38] Chr1:9488597..16142286 [GRCh37] Chr1:9411184..16014873 [NCBI36] Chr1:1p36.22-36.21	pathogenic
GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3	copy number gain	See cases [RCV000141823]	Chr1:11021751..15236671 [GRCh38] Chr1:11081808..15563167 [GRCh37] Chr1:11004395..15435754 [NCBI36] Chr1:1p36.22-36.21	likely pathogenic
GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	copy number loss	See cases [RCV000141438]	Chr1:10264397..15780840 [GRCh38] Chr1:10324455..16107335 [GRCh37] Chr1:10247042..15979922 [NCBI36] Chr1:1p36.22-36.21	pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	copy number gain	See cases [RCV000142906]	Chr1:6554885..16056011 [GRCh38] Chr1:6614945..16382506 [GRCh37] Chr1:6537532..16255093 [NCBI36] Chr1:1p36.31-36.13	pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	copy number loss	See cases [RCV000142771]	Chr1:5363826..18360302 [GRCh38] Chr1:5423886..18686796 [GRCh37] Chr1:5323746..18559383 [NCBI36] Chr1:1p36.31-36.13	pathogenic
Single allele	complex	Breast ductal adenocarcinoma [RCV000207058]	Chr1:909238..24706269 [GRCh37] Chr1:1p36.33-36.11	uncertain significance
chr1:909238-16736132 complex variant	complex	Breast ductal adenocarcinoma [RCV000207094]	Chr1:909238..16736132 [GRCh37] Chr1:1p36.33-36.13	uncertain significance
GRCh37/hg19 1p36.22-36.21(chr1:11690766-12835739)	copy number loss	not provided [RCV000767547]	Chr1:11690766..12835739 [GRCh37] Chr1:1p36.22-36.21	pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1	copy number loss	See cases [RCV000239416]	Chr1:82154..12699337 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	copy number loss	See cases [RCV000240403]	Chr1:746608..15077159 [GRCh37] Chr1:1p36.33-36.21	pathogenic
GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3	copy number gain	See cases [RCV000240284]	Chr1:8255222..12785220 [GRCh37] Chr1:1p36.23-36.21	likely pathogenic
GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1	copy number loss	See cases [RCV000446359]	Chr1:4558588..13187457 [GRCh37] Chr1:1p36.32-36.21	pathogenic
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1	copy number loss	See cases [RCV000446470]	Chr1:2749920..22564787 [GRCh37] Chr1:1p36.32-36.12	pathogenic
GRCh37/hg19 1p36.22-36.21(chr1:10722955-12910774)x1	copy number loss	See cases [RCV000510444]	Chr1:10722955..12910774 [GRCh37] Chr1:1p36.22-36.21	likely pathogenic
GRCh37/hg19 1p36.22-36.21(chr1:11143298-13709344)x3	copy number gain	See cases [RCV000510407]	Chr1:11143298..13709344 [GRCh37] Chr1:1p36.22-36.21	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	copy number gain	See cases [RCV000510383]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.22-36.21(chr1:10722725-14267773)x1	copy number loss	See cases [RCV000512501]	Chr1:10722725..14267773 [GRCh37] Chr1:1p36.22-36.21	likely pathogenic
GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1	copy number loss	See cases [RCV000512226]	Chr1:8850514..16272383 [GRCh37] Chr1:1p36.23-36.13	likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3	copy number gain	not provided [RCV000736305]	Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.22-36.21(chr1:10246640-12841900)x1	copy number loss	not provided [RCV000846372]	Chr1:10246640..12841900 [GRCh37] Chr1:1p36.22-36.21	uncertain significance
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	copy number gain	Global developmental delay [RCV000787285]	Chr1:103343285..103455144 [GRCh37] Chr1:1p36.22-21.1	uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	copy number loss	See cases [RCV000790592]	Chr1:82154..11784118 [GRCh37] Chr1:1p36.33-36.22	pathogenic
NC_000001.11:g.(?_11012634)_(11934865_?)del	deletion	Atrial fibrillation, familial, 6 [RCV001031444]	Chr1:11072691..11994922 [GRCh37] Chr1:1p36.22	uncertain significance
NM_012168.6(FBXO2):c.808G>C (p.Glu270Gln)	single nucleotide variant	not specified [RCV004286387]	Chr1:11648777 [GRCh38] Chr1:11708834 [GRCh37] Chr1:1p36.22	uncertain significance
GRCh37/hg19 1p36.22(chr1:9852396-11909475)x1	copy number loss	not provided [RCV001005065]	Chr1:9852396..11909475 [GRCh37] Chr1:1p36.22	likely pathogenic
GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	copy number loss	not provided [RCV001832902]	Chr1:849466..17525065 [GRCh37] Chr1:1p36.33-36.13	pathogenic
NC_000001.10:g.(?_8616514)_(12476900_?)dup	duplication	Immunodeficiency 14 [RCV001920571]	Chr1:8616514..12476900 [GRCh37] Chr1:1p36.23-36.22	uncertain significance
NC_000001.10:g.(?_6485016)_(12569078_?)del	deletion	not provided [RCV001940096]	Chr1:6485016..12569078 [GRCh37] Chr1:1p36.31-36.22	uncertain significance
NC_000001.10:g.(?_10698999)_(11907741_?)dup	duplication	Atrial fibrillation, familial, 6 [RCV003116537]	Chr1:10698999..11907741 [GRCh37] Chr1:1p36.22	uncertain significance
NC_000001.10:g.(?_10753911)_(11854615_?)dup	duplication	not provided [RCV003113615]	Chr1:10753911..11854615 [GRCh37] Chr1:1p36.22	uncertain significance
NC_000001.10:g.(?_9304994)_(12569078_?)dup	duplication	Charcot-Marie-Tooth disease type 2 [RCV003119499]	Chr1:9304994..12569078 [GRCh37] Chr1:1p36.22	uncertain significance
NC_000001.11:g.10115497_16283149dup	duplication	not specified [RCV002286386]	Chr1:10115497..16283149 [GRCh38] Chr1:1p36.22-36.13	likely pathogenic
NM_012168.6(FBXO2):c.103C>A (p.Gln35Lys)	single nucleotide variant	not specified [RCV004329691]	Chr1:11650754 [GRCh38] Chr1:11710811 [GRCh37] Chr1:1p36.22	uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	copy number loss	not provided [RCV002473951]	Chr1:849467..12448956 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	copy number loss	not provided [RCV002474779]	Chr1:6758933..19287770 [GRCh37] Chr1:1p36.31-36.13	pathogenic
NM_012168.6(FBXO2):c.631A>G (p.Ser211Gly)	single nucleotide variant	not specified [RCV004186139]	Chr1:11649212 [GRCh38] Chr1:11709269 [GRCh37] Chr1:1p36.22	uncertain significance
NM_012168.6(FBXO2):c.146A>C (p.Glu49Ala)	single nucleotide variant	not specified [RCV004114509]	Chr1:11650711 [GRCh38] Chr1:11710768 [GRCh37] Chr1:1p36.22	uncertain significance
NM_012168.6(FBXO2):c.628C>T (p.Arg210Cys)	single nucleotide variant	not specified [RCV004199588]	Chr1:11649215 [GRCh38] Chr1:11709272 [GRCh37] Chr1:1p36.22	uncertain significance
NM_012168.6(FBXO2):c.105G>C (p.Gln35His)	single nucleotide variant	not specified [RCV004172684]	Chr1:11650752 [GRCh38] Chr1:11710809 [GRCh37] Chr1:1p36.22	uncertain significance
NM_012168.6(FBXO2):c.668T>C (p.Leu223Pro)	single nucleotide variant	not specified [RCV004117281]	Chr1:11649175 [GRCh38] Chr1:11709232 [GRCh37] Chr1:1p36.22	uncertain significance
NM_012168.6(FBXO2):c.95C>T (p.Pro32Leu)	single nucleotide variant	not specified [RCV004147348]	Chr1:11650762 [GRCh38] Chr1:11710819 [GRCh37] Chr1:1p36.22	uncertain significance
NM_012168.6(FBXO2):c.766A>G (p.Thr256Ala)	single nucleotide variant	not specified [RCV004099746]	Chr1:11648819 [GRCh38] Chr1:11708876 [GRCh37] Chr1:1p36.22	uncertain significance
NM_012168.6(FBXO2):c.220G>A (p.Val74Met)	single nucleotide variant	not specified [RCV004125766]	Chr1:11650637 [GRCh38] Chr1:11710694 [GRCh37] Chr1:1p36.22	uncertain significance
NM_012168.6(FBXO2):c.257C>T (p.Pro86Leu)	single nucleotide variant	not specified [RCV004158455]	Chr1:11650600 [GRCh38] Chr1:11710657 [GRCh37] Chr1:1p36.22	uncertain significance
NM_012168.6(FBXO2):c.320G>A (p.Arg107His)	single nucleotide variant	not specified [RCV004124263]	Chr1:11650537 [GRCh38] Chr1:11710594 [GRCh37] Chr1:1p36.22	uncertain significance
NM_012168.6(FBXO2):c.322G>T (p.Asp108Tyr)	single nucleotide variant	not specified [RCV004280659]	Chr1:11650535 [GRCh38] Chr1:11710592 [GRCh37] Chr1:1p36.22	uncertain significance
NM_012168.6(FBXO2):c.856C>T (p.Arg286Trp)	single nucleotide variant	not specified [RCV004252217]	Chr1:11648729 [GRCh38] Chr1:11708786 [GRCh37] Chr1:1p36.22	uncertain significance
NC_000001.10:g.4481271_20530242del	deletion	Chromosome 1p36 deletion syndrome [RCV003159574]	Chr1:4481271..20530242 [GRCh37] Chr1:1p36.32-36.12	pathogenic
NM_012168.6(FBXO2):c.266T>C (p.Leu89Pro)	single nucleotide variant	not specified [RCV004350366]	Chr1:11650591 [GRCh38] Chr1:11710648 [GRCh37] Chr1:1p36.22	uncertain significance
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	copy number gain	Trisomy 12p [RCV003447845]	Chr1:99125..34026935 [GRCh38] Chr1:1p36.33-35.1	pathogenic
NM_012168.6(FBXO2):c.103CAG[3] (p.Gln36_Glu37insGln)	microsatellite	FBXO2-related condition [RCV003939470]	Chr1:11650748..11650749 [GRCh38] Chr1:11710805..11710806 [GRCh37] Chr1:1p36.22	likely benign
GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	copy number loss	not specified [RCV003987128]	Chr1:6330828..12910774 [GRCh37] Chr1:1p36.31-36.21	pathogenic
NM_012168.6(FBXO2):c.353A>C (p.Lys118Thr)	single nucleotide variant	FBXO2-related condition [RCV003982376]	Chr1:11650504 [GRCh38] Chr1:11710561 [GRCh37] Chr1:1p36.22	benign
NM_012168.6(FBXO2):c.23-5T>G	single nucleotide variant	FBXO2-related condition [RCV003929833]	Chr1:11650839 [GRCh38] Chr1:11710896 [GRCh37] Chr1:1p36.22	benign
NM_012168.6(FBXO2):c.189G>A (p.Pro63=)	single nucleotide variant	FBXO2-related condition [RCV003952053]	Chr1:11650668 [GRCh38] Chr1:11710725 [GRCh37] Chr1:1p36.22	likely benign
NM_012168.6(FBXO2):c.463A>G (p.Ser155Gly)	single nucleotide variant	FBXO2-related condition [RCV003924328]	Chr1:11650003 [GRCh38] Chr1:11710060 [GRCh37] Chr1:1p36.22	likely benign
NM_012168.6(FBXO2):c.22+8A>C	single nucleotide variant	FBXO2-related condition [RCV003974481]	Chr1:11654311 [GRCh38] Chr1:11714368 [GRCh37] Chr1:1p36.22	benign
NM_012168.6(FBXO2):c.119C>T (p.Ala40Val)	single nucleotide variant	not specified [RCV004388889]	Chr1:11650738 [GRCh38] Chr1:11710795 [GRCh37] Chr1:1p36.22	uncertain significance
NM_012168.6(FBXO2):c.137A>T (p.Tyr46Phe)	single nucleotide variant	not specified [RCV004388890]	Chr1:11650720 [GRCh38] Chr1:11710777 [GRCh37] Chr1:1p36.22	uncertain significance
NM_012168.6(FBXO2):c.788G>A (p.Gly263Asp)	single nucleotide variant	not specified [RCV004388893]	Chr1:11648797 [GRCh38] Chr1:11708854 [GRCh37] Chr1:1p36.22	uncertain significance
NM_012168.6(FBXO2):c.422A>G (p.His141Arg)	single nucleotide variant	not specified [RCV004388891]	Chr1:11650044 [GRCh38] Chr1:11710101 [GRCh37] Chr1:1p36.22	uncertain significance
NM_012168.6(FBXO2):c.650A>G (p.Tyr217Cys)	single nucleotide variant	not specified [RCV004388892]	Chr1:11649193 [GRCh38] Chr1:11709250 [GRCh37] Chr1:1p36.22	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1420
Count of miRNA genes:	772
Interacting mature miRNAs:	899
Transcripts:	ENST00000354287, ENST00000465901, ENST00000466919, ENST00000471501, ENST00000475961
Prediction methods:	Microtar, Miranda, Rnahybrid
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

G29173

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	11,708,511 - 11,708,646	UniSTS	GRCh37
Build 36	1	11,631,098 - 11,631,233	RGD	NCBI36
Celera	1	10,820,568 - 10,820,703	RGD
Cytogenetic Map	1	p36.22	UniSTS
HuRef	1	10,862,603 - 10,862,738	UniSTS

WI-20866

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	11,708,475 - 11,708,768	UniSTS	GRCh37
Build 36	1	11,631,062 - 11,631,355	RGD	NCBI36
Celera	1	10,820,532 - 10,820,825	RGD
Cytogenetic Map	1	p36.22	UniSTS
HuRef	1	10,862,567 - 10,862,860	UniSTS
GeneMap99-GB4 RH Map	1	49.58	UniSTS
Whitehead-RH Map	1	47.4	UniSTS
NCBI RH Map	1	74.8	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

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

919

602

1418

451

150

310

2191

547

3599

174

1020

951

150

225

1385

Low

1488

2247

302

172

1502

154

1935

1476

110

222

423

637

878

1277

Below cutoff

136

245

230

161

101

126

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_012168	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB839047	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF174594	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF187318	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK308531	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK313019	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL031731	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW138262	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW162121	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC014957	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC025233	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC096747	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BE464909	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BF967195	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM128229	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BP209877	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471130	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR542110	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	H18283	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000354287 ⟹ ENSP00000346240

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	11,648,387 - 11,654,429 (-)	Ensembl

RefSeq Acc Id:

ENST00000465901 ⟹ ENSP00000473649

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	11,650,547 - 11,655,785 (-)	Ensembl

RefSeq Acc Id:

ENST00000466919

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	11,649,874 - 11,654,197 (-)	Ensembl

RefSeq Acc Id:

ENST00000471501

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	11,649,528 - 11,650,713 (-)	Ensembl

RefSeq Acc Id:

ENST00000475961

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	11,650,737 - 11,653,529 (-)	Ensembl

RefSeq Acc Id:

ENST00000642025 ⟹ ENSP00000493057

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	11,637,018 - 11,650,770 (-)	Ensembl

RefSeq Acc Id:

NM_012168 ⟹ NP_036300

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	11,648,387 - 11,654,429 (-)	NCBI
GRCh37	1	11,707,924 - 11,714,888 (-)	NCBI
Build 36	1	11,631,035 - 11,637,326 (-)	NCBI Archive
HuRef	1	10,862,510 - 10,868,984 (-)	ENTREZGENE
CHM1_1	1	11,696,402 - 11,702,875 (-)	NCBI
T2T-CHM13v2.0	1	11,192,423 - 11,198,481 (-)	NCBI

Sequence:

show sequence

AGACGCGGACAGCGCCGGGACTCGCCGCCCCGGGACTCGCGCAGCCCGCAGCGCTCCGGCTCCT
CCTCTCGCGACCGCCCTCCGCAGCGATGGACGGAGACGGTGACCCAGAGAGCGTGGGCCAGCCC
GAGGAGGCAAGCCCGGAGGAGCAGCCAGAGGAGGCGAGTGCTGAGGAGGAGCGGCCGGAGGACC
AGCAGGAGGAGGAGGCGGCGGCCGCCGCCGCGTACCTGGACGAGCTGCCCGAGCCGCTGCTGCT
GCGCGTGCTGGCCGCACTGCCGGCCGCCGAGCTGGTGCAGGCCTGCCGCCTGGTGTGCCTGCGC
TGGAAGGAGCTGGTGGACGGCGCCCCGCTGTGGCTGCTCAAGTGCCAGCAGGAGGGGCTGGTGC
CCGAGGGCGGCGTGGAGGAGGAGCGCGACCACTGGCAGCAGTTCTACTTCCTGAGCAAGCGGCG
CCGCAACCTTCTGCGTAACCCGTGTGGGGAAGAGGACTTGGAAGGCTGGTGTGACGTGGAGCAT
GGTGGGGACGGCTGGAGGGTGGAGGAGCTGCCTGGAGACAGTGGGGTGGAGTTCACCCACGATG
AGAGCGTCAAGAAGTACTTCGCCTCCTCCTTTGAGTGGTGTCGCAAAGCACAGGTCATTGACCT
GCAGGCTGAGGGCTACTGGGAGGAGCTGCTGGACACGACTCAGCCGGCCATCGTGGTGAAGGAC
TGGTACTCGGGCCGCAGCGACGCTGGTTGCCTCTACGAGCTCACCGTTAAGCTACTGTCCGAGC
ACGAGAACGTGCTGGCTGAGTTCAGCAGCGGGCAGGTGGCAGTGCCCCAAGACAGTGACGGCGG
GGGCTGGATGGAGATCTCCCACACCTTCACCGACTACGGGCCGGGCGTCCGCTTCGTCCGCTTC
GAGCACGGGGGGCAGGACTCCGTCTACTGGAAGGGCTGGTTCGGGGCCCGGGTGACCAACAGCA
GCGTGTGGGTAGAACCCTGAGCGACCCTGCCTCCACTCTCCCCCAGCTGCCTGGAGGGGCAAAG
GTCGAGGGTAGATAGGCCTTAACTTAGTCCATAGCGTCCTCACCTTCCCCAAGCCACACATCCT
CCTCCCATCCCTTGCTCCGATCCCAGCCCCTGAGCAGGGAGAGAGAAGTTTTGTTGGCATAGGT
TTGCTTAGGTAGCCGGCTTCTAGAATGTAGATCCGTGAGGGCGTGAGCTTGGACTGGACCCACT
GCTGATTCCCTGCACCTAGCACAGTGCTTGCCACAAAGTGGGCTCTCAATAAATATTATTTGTC
CAAGGAA

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Protein Sequences


Protein RefSeqs	NP_036300	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF01822	(Get FASTA)	NCBI Sequence Viewer
	AAF04515	(Get FASTA)	NCBI Sequence Viewer
	AAH25233	(Get FASTA)	NCBI Sequence Viewer
	AAH96747	(Get FASTA)	NCBI Sequence Viewer
	BAG35854	(Get FASTA)	NCBI Sequence Viewer
	CAG46907	(Get FASTA)	NCBI Sequence Viewer
	EAW71689	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000346240
	ENSP00000346240.4
	ENSP00000473649.1
	ENSP00000493057.1
GenBank Protein	Q9UK22	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_036300 ⟸ NM_012168
- UniProtKB:	Q8TB29 (UniProtKB/Swiss-Prot), Q6FGJ7 (UniProtKB/Swiss-Prot), Q5TGY0 (UniProtKB/Swiss-Prot), B2R7K7 (UniProtKB/Swiss-Prot), Q9UKC6 (UniProtKB/Swiss-Prot), Q9UK22 (UniProtKB/Swiss-Prot), A0A286YF37 (UniProtKB/TrEMBL)
- Sequence:	show sequence MDGDGDPESVGQPEEASPEEQPEEASAEEERPEDQQEEEAAAAAAYLDELPEPLLLRVLAALPA AELVQACRLVCLRWKELVDGAPLWLLKCQQEGLVPEGGVEEERDHWQQFYFLSKRRRNLLRNPC GEEDLEGWCDVEHGGDGWRVEELPGDSGVEFTHDESVKKYFASSFEWCRKAQVIDLQAEGYWEE LLDTTQPAIVVKDWYSGRSDAGCLYELTVKLLSEHENVLAEFSSGQVAVPQDSDGGGWMEISHT FTDYGPGVRFVRFEHGGQDSVYWKGWFGARVTNSSVWVEP hide sequence

RefSeq Acc Id:

ENSP00000473649 ⟸ ENST00000465901

RefSeq Acc Id:

ENSP00000493057 ⟸ ENST00000642025

RefSeq Acc Id:

ENSP00000346240 ⟸ ENST00000354287

Protein Domains

F-box FBA

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9UK22-F1-model_v2	AlphaFold	Q9UK22	1-296	view protein structure

Promoters

RGD ID:

6785563

Promoter ID:

HG_KWN:683

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_2Hour, NB4

Transcripts:

OTTHUMT00000005767

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	11,632,931 - 11,633,431 (-)	MPROMDB

RGD ID:

6785567

Promoter ID:

HG_KWN:687

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

OTTHUMT00000005768, OTTHUMT00000092164

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	11,637,391 - 11,637,891 (+)	MPROMDB

RGD ID:

6854084

Promoter ID:

EPDNEW_H207

Type:

initiation region

Name:

FBXO2_1

Description:

F-box protein 2

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H209

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	11,654,429 - 11,654,489	EPDNEW

RGD ID:

6854088

Promoter ID:

EPDNEW_H209

Type:

initiation region

Name:

FBXO2_2

Description:

F-box protein 2

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H207

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	11,654,654 - 11,654,714	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:13581	AgrOrtholog
COSMIC	FBXO2	COSMIC
Ensembl Genes	ENSG00000116661	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000354287	ENTREZGENE
	ENST00000354287.5	UniProtKB/Swiss-Prot
	ENST00000465901.1	UniProtKB/TrEMBL
	ENST00000642025.1	UniProtKB/TrEMBL
Gene3D-CATH	1.20.1280.50	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Galactose-binding domain-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000116661	GTEx
HGNC ID	HGNC:13581	ENTREZGENE
Human Proteome Map	FBXO2	Human Proteome Map
InterPro	F-box-assoc_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	F-box-like_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	F-box_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	F-box_only	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Galactose-bd-like_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:26232	UniProtKB/Swiss-Prot
NCBI Gene	26232	ENTREZGENE
OMIM	607112	OMIM
PANTHER	F-BOX ONLY PROTEIN 2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR12125	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	F-box-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	FBA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA31895	PharmGKB
PROSITE	FBA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	FBOX	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	FBA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF49785	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF81383	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A286YF37	ENTREZGENE, UniProtKB/TrEMBL
	B2R7K7	ENTREZGENE
	FBX2_HUMAN	UniProtKB/Swiss-Prot
	Q5TGY0	ENTREZGENE
	Q6FGJ7	ENTREZGENE
	Q8TB29	ENTREZGENE
	Q9UK22	ENTREZGENE
	Q9UKC6	ENTREZGENE
	R4GNH2_HUMAN	UniProtKB/TrEMBL
UniProt Secondary	B2R7K7	UniProtKB/Swiss-Prot
	Q5TGY0	UniProtKB/Swiss-Prot
	Q6FGJ7	UniProtKB/Swiss-Prot
	Q8TB29	UniProtKB/Swiss-Prot
	Q9UKC6	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-04-05	FBXO2	F-box protein 2	OCP1	organ of Corti protein 1	Data merged from RGD:1350275	737654	PROVISIONAL

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)

Imported Disease Annotations - ClinVar

Imported Annotations - KEGG (archival)

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Imported Disease Annotations - ClinVar

Imported Annotations - KEGG (archival)