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Gene: FBXL3 (F-box and leucine rich repeat protein 3) Sus scrofa

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Symbol:

FBXL3

Name:

F-box and leucine rich repeat protein 3

RGD ID:

13918889

Description:

ENCODES a protein that exhibits ubiquitin-protein transferase activity (inferred); INVOLVED IN entrainment of circadian clock by photoperiod (inferred); proteasome-mediated ubiquitin-dependent protein catabolic process (inferred); protein destabilization (inferred); ASSOCIATED WITH chromosome 13q14 deletion syndrome (ortholog); INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS (ortholog); neuronal ceroid lipofuscinosis (ortholog); FOUND IN cytosol (inferred); nuclear body (inferred); nucleus (inferred)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

F-box/LRR-repeat protein 3

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Latest Assembly:

Sscrofa11.1 - Pig Sscrofa11.1 Assembly

Position:

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	11	49,131,665 - 49,151,009 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	11	49,131,663 - 49,151,380 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	11	53,769,579 - 53,788,895 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FBXL3	Pig	chromosome 13q14 deletion syndrome		ISO	RGD:1343078	8554872	ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome	ClinVar
FBXL3	Pig	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS		ISO	RGD:1343078	8554872	ClinVar Annotator: match by term: Intellectual disability, short stature, facial anomalies, and joint dislocations	ClinVar	PMID:11477608\|PMID:25741868\|PMID:30481285
FBXL3	Pig	neuronal ceroid lipofuscinosis		ISO	RGD:1343078	8554872	ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	ClinVar	PMID:10528251\|PMID:20127975\|PMID:20157158\|PMID:22589734\|PMID:28492532\|PMID:30394532\|PMID:31406620\|PMID:32393339\|PMID:8001159
FBXL3	Pig	progressive myoclonus epilepsy		ISO	RGD:1343078	8554872	ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive \| ClinVar Annotator: match by term: Progressive more ...	ClinVar	PMID:18414213\|PMID:24767253\|PMID:25741868\|PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FBXL3	Pig	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS		ISO	RGD:1343078	7240710		OMIM

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FBXL3	Pig	entrainment of circadian clock by photoperiod	involved_in	IEA	UniProtKB:Q8C4V4\|ensembl:ENSMUSP00000022720	150520179		Ensembl	GO_REF:0000107
FBXL3	Pig	entrainment of circadian clock by photoperiod	involved_in	IBA	MGI:1354702\|MGI:2442921\|PANTHER:PTN002545275	150520179		GO_Central	GO_REF:0000033
FBXL3	Pig	proteasome-mediated ubiquitin-dependent protein catabolic process	involved_in	IEA	UniProtKB:Q8C4V4\|ensembl:ENSMUSP00000022720	150520179		Ensembl	GO_REF:0000107
FBXL3	Pig	protein destabilization	involved_in	IEA	UniProtKB:Q8C4V4\|ensembl:ENSMUSP00000022720	150520179		Ensembl	GO_REF:0000107
FBXL3	Pig	protein ubiquitination	involved_in	IEA	UniProtKB:Q8C4V4\|ensembl:ENSMUSP00000022720	150520179		Ensembl	GO_REF:0000107
FBXL3	Pig	regulation of circadian rhythm	involved_in	IEA	UniProtKB:Q8C4V4\|UniProtKB:Q9UKT7\|ensembl:ENSMUSP00000022720\|ensembl:ENSP00000347834	150520179		Ensembl	GO_REF:0000107
FBXL3	Pig	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	involved_in	IEA	UniProtKB:Q8C4V4\|UniProtKB:Q9UKT7\|ensembl:ENSMUSP00000022720\|ensembl:ENSP00000347834	150520179		Ensembl	GO_REF:0000107

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FBXL3	Pig	cytosol	located_in	IEA	UniProtKB:Q8C4V4\|ensembl:ENSMUSP00000022720	150520179		Ensembl	GO_REF:0000107
FBXL3	Pig	cytosol	is_active_in	IBA	MGI:1354702\|MGI:2442921\|PANTHER:PTN002364414	150520179		GO_Central	GO_REF:0000033
FBXL3	Pig	nuclear body	located_in	IEA	UniProtKB:Q9UKT7\|ensembl:ENSP00000347834	150520179		Ensembl	GO_REF:0000107
FBXL3	Pig	nucleus	located_in	IEA	UniProtKB:Q8C4V4\|ensembl:ENSMUSP00000022720	150520179		Ensembl	GO_REF:0000107
FBXL3	Pig	nucleus	is_active_in	IBA	MGI:1354702\|MGI:2442921\|PANTHER:PTN002364414\|UniProtKB:Q9UKT7	150520179		GO_Central	GO_REF:0000033
FBXL3	Pig	SCF ubiquitin ligase complex	part_of	IEA	UniProtKB:Q9UKT7\|ensembl:ENSP00000347834	150520179		Ensembl	GO_REF:0000107

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FBXL3	Pig	protein binding	enables	ISO	UniProtKB:P97784\|UniProtKB:Q9CXT6	9068941	PMID:30500822	UniProt	PMID:30500822
FBXL3	Pig	protein binding	enables	ISO	UniProtKB:P97784\|UniProtKB:Q9R194	9068941	PMID:17462724, PMID:23452855, PMID:23452856	UniProt	PMID:17462724\|PMID:23452855\|PMID:23452856
FBXL3	Pig	protein binding	enables	ISO	UniProtKB:Q9R194\|UniProtKB:Q9WTX5	9068941	PMID:17463251, PMID:23503662	IntAct	PMID:17463251\|PMID:23503662
FBXL3	Pig	protein binding	enables	ISO	UniProtKB:Q86XR8-3\|UniProtKB:Q9NRD5\|UniProtKB:Q9UJ68	9068941	PMID:32296183	IntAct	PMID:32296183
FBXL3	Pig	protein binding	enables	ISO	UniProtKB:Q16526\|UniProtKB:Q49AN0	9068941	PMID:17463251	UniProt	PMID:17463251
FBXL3	Pig	protein binding	enables	ISO	UniProtKB:O88895	9068941	PMID:26776516	UniProt	PMID:26776516
FBXL3	Pig	protein binding	enables	ISO	UniProtKB:O54943\|UniProtKB:P63208\|UniProtKB:P97784\|UniProtKB:Q13616\|UniProtKB:Q9R194	9068941	PMID:23452855, PMID:23452856	IntAct	PMID:23452855\|PMID:23452856
FBXL3	Pig	ubiquitin-protein transferase activity	contributes_to	IEA	UniProtKB:Q8C4V4\|UniProtKB:Q9UKT7\|ensembl:ENSMUSP00000022720\|ensembl:ENSP00000347834	150520179		Ensembl	GO_REF:0000107

PMID:22301074	PMID:30032202

FBXL3
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	11	49,131,665 - 49,151,009 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	11	49,131,663 - 49,151,380 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	11	53,769,579 - 53,788,895 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

FBXL3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	13	77,005,260 - 77,027,159 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	13	76,992,598 - 77,027,195 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	13	77,579,395 - 77,601,294 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	13	76,477,397 - 76,499,258 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	13	76,477,396 - 76,499,258	NCBI
Celera	13	58,477,376 - 58,499,318 (-)	NCBI		Celera
Cytogenetic Map	13	q22.3	NCBI
HuRef	13	58,277,088 - 58,299,043 (-)	NCBI		HuRef
CHM1_1	13	77,547,295 - 77,569,223 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	13	76,222,648 - 76,250,801 (-)	NCBI		T2T-CHM13v2.0

Fbxl3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	14	103,318,470 - 103,337,016 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	14	103,317,675 - 103,337,002 (-)	Ensembl		GRCm39 Ensembl
GRCm38	14	103,080,239 - 103,099,566 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	14	103,080,239 - 103,099,566 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	14	103,479,456 - 103,498,726 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	14	101,967,535 - 101,986,017 (-)	NCBI		MGSCv36	mm8
Celera	14	101,708,112 - 101,723,414 (-)	NCBI		Celera
Cytogenetic Map	14	E2.3	NCBI
cM Map	14	51.73	NCBI

Fbxl3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	15	86,321,504 - 86,341,387 (-)	NCBI		GRCr8
mRatBN7.2	15	79,906,795 - 79,926,678 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	15	79,906,795 - 79,927,867 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	15	83,885,188 - 83,905,079 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	15	85,008,227 - 85,028,119 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	15	81,935,852 - 81,955,744 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	15	93,647,307 - 93,667,395 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	15	93,647,310 - 93,667,395 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	15	97,135,100 - 97,155,065 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	15	87,093,141 - 87,113,003 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	15	87,110,759 - 87,128,783 (-)	NCBI
Celera	15	79,046,955 - 79,066,741 (-)	NCBI		Celera
Cytogenetic Map	15	q21	NCBI

Fbxl3
(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_004955404	30,215,108 - 30,229,798 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955404	30,215,140 - 30,229,798 (+)	NCBI	ChiLan1.0	ChiLan1.0

FBXL3
(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	14	78,574,434 - 78,596,390 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	13	77,170,580 - 77,192,331 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	13	58,219,260 - 58,244,780 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	13	77,266,496 - 77,283,651 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	13	77,266,496 - 77,283,651 (-)	Ensembl	panpan1.1		panPan2

FBXL3
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	22	30,579,598 - 30,598,879 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	22	30,581,474 - 30,598,886 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	22	30,440,696 - 30,459,977 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	22	30,891,689 - 30,910,990 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	22	30,891,692 - 30,911,121 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	22	30,559,157 - 30,578,437 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	22	30,597,466 - 30,616,743 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	22	30,666,969 - 30,686,249 (-)	NCBI		UU_Cfam_GSD_1.0

Fbxl3
(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_024404945	128,841,836 - 128,863,274 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936511	4,258,548 - 4,283,285 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936511	4,259,066 - 4,280,501 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

FBXL3
(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	3	56,089,147 - 56,111,472 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	3	56,088,938 - 56,105,977 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666046	12,297,829 - 12,320,027 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Fbxl3
(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_004624751	23,374,702 - 23,398,727 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624751	23,374,622 - 23,391,535 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in FBXL3
515 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	copy number gain	See cases [RCV000051785]	Chr4:118065569..190042639 [GRCh38] Chr4:118986724..190828225 [GRCh37] Chr4:119206172..191200788 [NCBI36] Chr4:4q26-35.2	pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]\|See cases [RCV000051775]	Chr4:92913386..165299707 [GRCh38] Chr4:93834537..166220859 [GRCh37] Chr4:94053560..166440309 [NCBI36] Chr4:4q22.2-32.3	pathogenic
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	copy number gain	See cases [RCV000051776]	Chr4:96092893..136410207 [GRCh38] Chr4:97014044..137331362 [GRCh37] Chr4:97233067..137550812 [NCBI36] Chr4:4q22.3-28.3	pathogenic
GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	copy number loss	See cases [RCV000053321]	Chr4:116630862..145429900 [GRCh38] Chr4:117552018..146351052 [GRCh37] Chr4:117771466..146570502 [NCBI36] Chr4:4q26-31.21	pathogenic
NM_001128843.2(TNIP3):c.189+1840G>A	single nucleotide variant	Lung cancer [RCV000094019]	Chr4:121180836 [GRCh38] Chr4:122101991 [GRCh37] Chr4:4q27	uncertain significance
GRCh38/hg38 4q27(chr4:121164018-122098913)x1	copy number loss	See cases [RCV000137335]	Chr4:121164018..122098913 [GRCh38] Chr4:122085173..123020068 [GRCh37] Chr4:122304623..123239518 [NCBI36] Chr4:4q27	uncertain significance
GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	copy number loss	See cases [RCV000143207]	Chr4:117351881..133565667 [GRCh38] Chr4:118273037..134486822 [GRCh37] Chr4:118492485..134706272 [NCBI36] Chr4:4q26-28.3	pathogenic
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	copy number gain	See cases [RCV000240392]	Chr4:119437495..190904301 [GRCh37] Chr4:4q26-35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	copy number gain	See cases [RCV000446653]	Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	copy number gain	See cases [RCV000510453]	Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	copy number gain	See cases [RCV000511945]	Chr4:109199664..189752726 [GRCh37] Chr4:4q25-35.2	pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	copy number gain	See cases [RCV000510970]	Chr4:93071152..190957473 [GRCh37] Chr4:4q22.1-35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	copy number gain	See cases [RCV000512241]	Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4q26-28.2(chr4:116307857-129302960)x1	copy number loss	not provided [RCV000682448]	Chr4:116307857..129302960 [GRCh37] Chr4:4q26-28.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3	copy number gain	not provided [RCV000743155]	Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3	copy number gain	not provided [RCV000743156]	Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3	copy number gain	not provided [RCV000743147]	Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
Single allele	deletion	Neurodevelopmental disorder [RCV000787448]	Chr4:116624547..126168646 [GRCh37] Chr4:4q26-28.1	likely pathogenic
GRCh37/hg19 4q27(chr4:121183810-122428870)x3	copy number gain	not provided [RCV001259311]	Chr4:121183810..122428870 [GRCh37] Chr4:4q27	uncertain significance
GRCh37/hg19 4q26-28.2(chr4:116833638-130232122)	copy number loss	Atypical behavior [RCV001352657]	Chr4:116833638..130232122 [GRCh37] Chr4:4q26-28.2	pathogenic
GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1	copy number loss	not provided [RCV001795851]	Chr4:114872547..138005267 [GRCh37] Chr4:4q26-28.3	pathogenic
GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	copy number gain	not specified [RCV002053446]	Chr4:104715235..145252595 [GRCh37] Chr4:4q24-31.21	pathogenic
GRCh37/hg19 4q26-28.2(chr4:116888785-129649979)	copy number loss	not specified [RCV002053451]	Chr4:116888785..129649979 [GRCh37] Chr4:4q26-28.2	pathogenic
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	copy number gain	not provided [RCV001827738]	Chr4:52866944..143582507 [GRCh37] Chr4:4q12-31.21	pathogenic
NC_000004.11:g.(?_121616266)_(124323706_?)dup	duplication	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome [RCV003113657]	Chr4:121616266..124323706 [GRCh37] Chr4:4q27-28.1	uncertain significance
NM_001128843.2(TNIP3):c.53C>T (p.Ser18Phe)	single nucleotide variant	not specified [RCV004188684]	Chr4:121216430 [GRCh38] Chr4:122137585 [GRCh37] Chr4:4q27	uncertain significance
NM_024873.6(TNIP3):c.753G>A (p.Met251Ile)	single nucleotide variant	not specified [RCV004254466]	Chr4:121142759 [GRCh38] Chr4:122063914 [GRCh37] Chr4:4q27	uncertain significance
GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	copy number gain	not provided [RCV003484198]	Chr4:117518683..168174703 [GRCh37] Chr4:4q26-32.3	pathogenic
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	copy number gain	not specified [RCV003986496]	Chr4:101203509..190957473 [GRCh37] Chr4:4q24-35.2	pathogenic
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	copy number gain	not provided [RCV003885507]	Chr4:45455621..191003541 [GRCh37] Chr4:4p12-q35.2	pathogenic
NC_000004.11:g.(?_121616266)_(124323706_?)del	deletion	not provided [RCV004580860]	Chr4:121616266..124323706 [GRCh37] Chr4:4q27-28.1	uncertain significance
NM_024873.6(TNIP3):c.467A>T (p.Glu156Val)	single nucleotide variant	not specified [RCV004882918]	Chr4:121154576 [GRCh38] Chr4:122075731 [GRCh37] Chr4:4q27	uncertain significance
NM_024873.6(TNIP3):c.464A>C (p.Tyr155Ser)	single nucleotide variant	not specified [RCV004882919]	Chr4:121154579 [GRCh38] Chr4:122075734 [GRCh37] Chr4:4q27	uncertain significance

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

alimentary part of gastrointestinal system	circulatory system	ectoderm	endocrine system	endoderm	hemolymphoid system	mesenchyme	mesoderm	nervous system	renal system	reproductive system	respiratory system
10	4	23	3	2	5	14	12	23	3	6	3


RefSeq Transcripts	XM_003357868	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AEMK02000077	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK344478	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CU457401	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GFLN01056075	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENSSSCT00000010385 ⟹ ENSSSCP00000010115

Type:

CODING

Position:

Pig Assembly	Chr	Position (strand)	Source
Sscrofa11.1 Ensembl	11	49,130,182 - 49,145,731 (-)	Ensembl

Ensembl Acc Id:

ENSSSCT00000039556 ⟹ ENSSSCP00000040298

Type:

CODING

Position:

Pig Assembly	Chr	Position (strand)	Source
Sscrofa11.1 Ensembl	11	49,131,694 - 49,151,009 (-)	Ensembl

Ensembl Acc Id:

ENSSSCT00000059559 ⟹ ENSSSCP00000032594

Type:

CODING

Position:

Pig Assembly	Chr	Position (strand)	Source
Sscrofa11.1 Ensembl	11	49,131,665 - 49,150,950 (-)	Ensembl

Ensembl Acc Id:

ENSSSCT00000075409 ⟹ ENSSSCP00000068177

Type:

CODING

Position:

Pig Assembly	Chr	Position (strand)	Source
Sscrofa11.1 Ensembl	11	49,130,182 - 49,145,731 (-)	Ensembl

RefSeq Acc Id:

XM_003357868 ⟹ XP_003357916

Type:

CODING

Position:

Pig Assembly	Chr	Position (strand)	Source
Sscrofa11.1	11	49,131,663 - 49,151,380 (-)	NCBI

Sequence:

show sequence

GCTGCTGGGCTAAGGCCGGCCCTAAAGACTCTCGCTCCTTTCTTCTTGCTGCTCCACCTCCTCAAACTTTCCGCTTTCCACCGTTGAAAGTCTCCTGGGCATCTAGCTGGCTCCAGCCCTCCCACATT
CGCTGCAAGACGAAAAACCCTCTAAAAGCCGCAGTCTCATCAGAGAGAGGAAAGCAGCCGACACTCCGCCCGGAACCAGAAGGACGAAGCACCGAGGCGGGCGGGGTGGCGCGCGCTCCCGCTTGGGC
GCGGCCCCCTCCAGCCCCCGACCCCGCCCTCCGCGGACGCGCCGCGGCGGACACGCGCCCGCCCCCCTCGACGGAGACGCGCCGGGGGAAGCGCGCGGCCGTCAGTCCGGGCGCCATTTTGGACTCGG
TGTCTGGGCCCGCGGTGCAGGGGTAACTACGCGGGGCTCGCAGCTCGCTGAAGGCGGCTCTTGAGGGGACTGGGGGTCCCGGCAGAAGCACGCAGGCCGCGCGGGACTGAGAAGAGAGGCTTTTCCCT
CGGCCGTCAGAGCCGCAAAGGTGGAGCCGAGTTGGCGCCCGCCCCGGGACCAGCGCCTCGGATGCGAGCGGAGCGCGGGGGGCGGCGGAGGCGGGAGCGCGAGGCGCGGGGCCCCGGGGGCCTCATGT
GAGAGCCACGGGACCAGCCGCCCCCGGAGCCCGGGGTGCTGTGTTGGGGAAGCCGCCCCTGGCAGCAGGATGAAACGAGGAGGAGGAAGAGATAGTGACCATAATTCATCAGAAGAAGGTACCGCAGA
GAAATCCAAGAAACTGAGGACTACAAGTGAGCCTTCTCAGACTTGTGATTGGGGTAATCTCCTTCAGGACATTATTCTTCAAGTATTTAAGTATTTGCCTCTTCTTGACCGGGCTCATGCTTCGCAAG
TTTGCCGCAACTGGAACCAGGTATTTCACATGCCTGACTTGTGGAGATGTTTTGAATTTGAACTGAATCAGCCAGCTACATCTTATTTGAAAGCTACACATCCAGAGCTGATTAAACAGATTATTAAA
AGACATTCAAACCATCTACAATATGTCAGCTTCAAGGTGGACAGTAGCAAAGAATCAGCTGAAGCAGCTTGTGATATATTATCACAACTTGTGAATTGCTCTTTAAAAACACTTGGGCTTATTTCAAC
TGCTCGGCCAAGCTTTATGGATTTACCAAAGTCTCACTTTATCTCTGCACTGACAGTCGTGTTTGTAAACTCCAAATCCTTATCCTCGCTTAAGATAGATGATACCCCAGTAGATGATCCATCCCTCA
AAGTACTAGTGGCCAACAACAGTGATACGCTCAAGCTGCTGAAAATGAGCAGCTGTCCTCATGTCTCTCCAGCAGGTATCCTCTGTGTGGCAGATCAGTGTCATGGCTTACGTGAGCTGGCCCTGAAT
TACCATTTGTTAAGTGACGAATTGCTGCTTGCTTTATCTTCTGAAAAACATGTTCGATTAGAACATTTGCGCATTGATGTGGTCAGTGAGAATCCTGGACAGACACACTTCCATACTATTCAGAAGAG
CAGCTGGGATGCTTTCATCAGACATTCACCAAAAGTGAACTTAGTGATGTATTTTTTTTTATATGAAGAGGAATTTGATCCATTCTTTCGGTATGAAATACCTGCCACCCATCTTTACTTTGGGAGAT
CAGTAAGCAAAGATGTGCTTGGCCGTGTGGGAATGACATGCCCTAGACTAGTTGAACTAGTAGTGTGTGCTAATGGGTTACGGCCACTTGATGAAGAGTTAATTCGCATTGCAGAACGTTGCAAAAAC
TTGTCAGCTATCGGACTAGGGGAATGCGAAGTCTCATGTAGTGCCTTTGTTGAGTTTGTGAAGATGTGTGGCGGCCGCCTGTCTCAATTATCCATTATGGAAGAAGTATTAATTCCTGACCAAAAGTA
TAGTTTGGAGCAGATTCACTGGGAGGTGTCCAAGCATCTTGGTAGAGTATGGTTTCCAGACATGATGCCCACTTGGTAAAGACCAAATGACATAGGGCATGATGAGCAGCACCTTCACTTTAAGCGTA
TTGTATTATAATAGAAGTTTATTTCCTGTGCGTCTGATGTAATTCTACTATTTTGTGGCACAGAAATTTGGTATCTTCACTGAGTATATAAGGATTGTTTTTTGGAAGACCCATGGACCAGCTTTGGT
CAGAAAACTTCATCTATTTCTTTAGCCTAATAGTCAAATCAAAAAAAGTGATTCAAATCTGAAAGGAATGACCAGTAATAAAGATTAAGCATTTTACAGTCTGAGGGAAATGAAACCTATATATTACA
GTATCTAATTGAATAGTAATAGGTTTTCCAAAATGTTATGTTCTCTATGCATTTTTTAAAAATGTAAACTTGACATTTTAGGGTCTTCAGTTATACATACACACCTGTTATAAGGTGTTTAATATAGC
TCAGGAAAGTGAGCATTTTGTGAGAAAAATGTAGGATATATCGTATCTAATGAAAAATACTGAATGTTCTAAAATGTTACAAAGCTGTTTTAAAGAGGTACATATAATTAATTGGAATACTTAAACTG
ATAAATGTCACATAGTATGTGAAGGATAATAAACAGAGCCAAGATCAAATTAAAAGAAAATGAATGGAATAGAAGGAAGGCAGTGTTTATTAGCTTTGTATAAACTTTTAGGATTGCTCTATAATCTG
CTAAACTATCAGTTCTTTTCTGTGATACATTACTATGTATGTGGCACTTGGGGCATCATATATAAAGTAACGAATGGTTTACCAGTTCTCCTTGGGCTTATCTCTGTTTAAACTAGTTTTGAAGTATT
ATACTGTAATCGAAATGAGAAGTTTATCTGTTTTAAAAAGCCAAATTGAAATAATTAAAAGTAGAACTTCAAAATGTTTGTTTATAAGTTGTTTCCATGCAAGGATAGTAGTCTCCAGTAAATTTTAG
TGATGGTTCATTTTTACATTTTGGAATTACAGTTATGTAAATAGAATTTTCAAAAATCCTAAAAGGAGCACCAGTGTACAGTTTAGCATAAACAGTAAATTTAAAAGAGTATATATTTAAGTTTATAA
TCAAATTTTTAAGTAAATATTCTTAGTGGACTGGAAAATTTTAATAGAAAAATGTCTGCAATTTTGTGATTGTTACTTTGGTTAAACTGATATTATTTAAGTAAGGTAGCATTTTTACTTTCATACAT
TGTAGAATCTGCAAAAATACTAAGTTTGGGGGTACATTTATTTTTTTTTGTTTTTTGATATTATATAAACTTTGATTCTGAGCACTAGTGCTAGTAGATAATTACCTCCTGAGGGAAATAAGAAGTGA
TTTACCCCCAGTGGAATATATTAATGCTTGAAGCTTAGAAAGCATCTTGGTAGATATGGAAGCTGATGTCTCATGGATCTAATCTATTTTTAAAAATAGATTACCTCCCTAAGAATTAATTAAAGGGT
GATTTTTCTGTATAATTTATGCTTTCAAAAGTGATGGTATTCTGACCACATATAAATGAGAAGAAAAAAAAGCTGATCCAGACATGGAAATTAAAAGCAGTTATTGTAATGTTCCTTCCTCTTACTAA
ACAGTTAAAATCTTTTGATTGTACAAGAAATACCTGTGTTTGTGGATGAAGCTTTTTTCCCTTGAATAACTTTGGAAAATGGATTTGACAGTATGTAATCAGTTCTACTAACCAAAGCTTAACTTGGA
AATTTACTTTTTGTACAAATTGAATTATACAGTGCTTGAAATACTTGTAAGTCACTTTATAAGCAAAATGCATAGCACTTAATTTGTTTAAACTATAGAATATATGCTAAATGCTTTTATCAGTTTAA
GAATAAAAATAGTTACTAATGCTGTTGTATTAGTTTTTAAAACTA

hide sequence


Protein RefSeqs	XP_003357916	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSSSCP00000032594
	ENSSSCP00000032594.2
	ENSSSCP00000040298.2
	ENSSSCP00015035773.1
	ENSSSCP00015035804.1
	ENSSSCP00025002267.1
	ENSSSCP00025002271.1
	ENSSSCP00030039983.1
	ENSSSCP00030039994.1
	ENSSSCP00030040002.1
	ENSSSCP00035017145.1
	ENSSSCP00035017148.1
	ENSSSCP00035017149.1
	ENSSSCP00040006278.1
	ENSSSCP00040006286.1
	ENSSSCP00045002013.1
	ENSSSCP00045002018.1
	ENSSSCP00050034028.1
	ENSSSCP00055025981.1
	ENSSSCP00055026012.1
	ENSSSCP00055026048.1
	ENSSSCP00055026081.1
	ENSSSCP00060020191.1
	ENSSSCP00060020193.1
	ENSSSCP00065021656.1
	ENSSSCP00065021658.1
	ENSSSCP00070037332.1
	ENSSSCP00070037340.1
	ENSSSCP00070037345.1

RefSeq Acc Id:

XP_003357916 ⟸ XM_003357868

- UniProtKB:

A0A4X1V7A7 (UniProtKB/TrEMBL), A0A286ZLU1 (UniProtKB/TrEMBL), A0A4X1V805 (UniProtKB/TrEMBL), A0A8D0ZMV7 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MKRGGGRDSDHNSSEEGTAEKSKKLRTTSEPSQTCDWGNLLQDIILQVFKYLPLLDRAHASQVCRNWNQVFHMPDLWRCFEFELNQPATSYLKATHPELIKQIIKRHSNHLQYVSFKVDSSKESAEAA
CDILSQLVNCSLKTLGLISTARPSFMDLPKSHFISALTVVFVNSKSLSSLKIDDTPVDDPSLKVLVANNSDTLKLLKMSSCPHVSPAGILCVADQCHGLRELALNYHLLSDELLLALSSEKHVRLEHL
RIDVVSENPGQTHFHTIQKSSWDAFIRHSPKVNLVMYFFLYEEEFDPFFRYEIPATHLYFGRSVSKDVLGRVGMTCPRLVELVVCANGLRPLDEELIRIAERCKNLSAIGLGECEVSCSAFVEFVKMC
GGRLSQLSIMEEVLIPDQKYSLEQIHWEVSKHLGRVWFPDMMPTW

hide sequence

Ensembl Acc Id:

ENSSSCP00000040298 ⟸ ENSSSCT00000039556

Ensembl Acc Id:

ENSSSCP00000010115 ⟸ ENSSSCT00000010385

Ensembl Acc Id:

ENSSSCP00000068177 ⟸ ENSSSCT00000075409

Ensembl Acc Id:

ENSSSCP00000032594 ⟸ ENSSSCT00000059559

Protein Domains

F-box

Database	Acc Id	Source(s)
Ensembl Genes	ENSSSCG00000009472	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
	ENSSSCG00015065547	UniProtKB/TrEMBL
	ENSSSCG00025004304	UniProtKB/TrEMBL
	ENSSSCG00030062018	UniProtKB/TrEMBL
	ENSSSCG00035032382	UniProtKB/TrEMBL
	ENSSSCG00040012107	UniProtKB/TrEMBL
	ENSSSCG00045002059	UniProtKB/TrEMBL
	ENSSSCG00050058011	UniProtKB/TrEMBL
	ENSSSCG00055016531	UniProtKB/TrEMBL
	ENSSSCG00060034790	UniProtKB/TrEMBL
	ENSSSCG00065036715	UniProtKB/TrEMBL
	ENSSSCG00070022295	UniProtKB/TrEMBL
Ensembl Transcript	ENSSSCT00000039556.2	UniProtKB/TrEMBL
	ENSSSCT00000059559	ENTREZGENE
	ENSSSCT00000059559.3	UniProtKB/TrEMBL
	ENSSSCT00015087758.1	UniProtKB/TrEMBL
	ENSSSCT00015087825.1	UniProtKB/TrEMBL
	ENSSSCT00025005722.1	UniProtKB/TrEMBL
	ENSSSCT00025005729.1	UniProtKB/TrEMBL
	ENSSSCT00030086694.1	UniProtKB/TrEMBL
	ENSSSCT00030086714.1	UniProtKB/TrEMBL
	ENSSSCT00030086726.1	UniProtKB/TrEMBL
	ENSSSCT00035042881.1	UniProtKB/TrEMBL
	ENSSSCT00035042886.1	UniProtKB/TrEMBL
	ENSSSCT00035042889.1	UniProtKB/TrEMBL
	ENSSSCT00040015901.1	UniProtKB/TrEMBL
	ENSSSCT00040015912.1	UniProtKB/TrEMBL
	ENSSSCT00045003204.1	UniProtKB/TrEMBL
	ENSSSCT00045003212.1	UniProtKB/TrEMBL
	ENSSSCT00050079097.1	UniProtKB/TrEMBL
	ENSSSCT00055032619.1	UniProtKB/TrEMBL
	ENSSSCT00055032658.1	UniProtKB/TrEMBL
	ENSSSCT00055032700.1	UniProtKB/TrEMBL
	ENSSSCT00055032739.1	UniProtKB/TrEMBL
	ENSSSCT00060047152.1	UniProtKB/TrEMBL
	ENSSSCT00060047156.1	UniProtKB/TrEMBL
	ENSSSCT00065050050.1	UniProtKB/TrEMBL
	ENSSSCT00065050052.1	UniProtKB/TrEMBL
	ENSSSCT00070044305.1	UniProtKB/TrEMBL
	ENSSSCT00070044316.1	UniProtKB/TrEMBL
	ENSSSCT00070044321.1	UniProtKB/TrEMBL
Gene3D-CATH	1.20.1280.50	UniProtKB/TrEMBL
	3.80.10.10	UniProtKB/TrEMBL
InterPro	F-box-like_dom_sf	UniProtKB/TrEMBL
	F-box_dom	UniProtKB/TrEMBL
	LRR_dom_sf	UniProtKB/TrEMBL
KEGG Report	ssc:100152980	UniProtKB/TrEMBL
NCBI Gene	FBXL3	ENTREZGENE
PANTHER	ES1 PROTEIN HOMOLOG, MITOCHONDRIAL	UniProtKB/TrEMBL
	F-BOX DOMAIN-CONTAINING PROTEIN	UniProtKB/TrEMBL
Pfam	F-box	UniProtKB/TrEMBL
	F-box-like	UniProtKB/TrEMBL
SMART	FBOX	UniProtKB/TrEMBL
Superfamily-SCOP	RNI-like	UniProtKB/TrEMBL
	SSF81383	UniProtKB/TrEMBL
UniProt	A0A286ZLU1	ENTREZGENE
	A0A287A8U4_PIG	UniProtKB/TrEMBL
	A0A4X1V7A7	ENTREZGENE, UniProtKB/TrEMBL
	A0A4X1V805	ENTREZGENE, UniProtKB/TrEMBL
	A0A4X1V810_PIG	UniProtKB/TrEMBL
	A0A8D0ZMV7	ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary	A0A286ZLU1	UniProtKB/TrEMBL
VGNC ID	VGNC:88030	ENTREZGENE

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


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


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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