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Gene: KBTBD2 (kelch repeat and BTB domain containing 2) Homo sapiens

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Symbol:

KBTBD2

Name:

kelch repeat and BTB domain containing 2

RGD ID:

1321151

HGNC Page

HGNC:21751

Description:

Enables ubiquitin-like ligase-substrate adaptor activity. Involved in protein K48-linked ubiquitination and regulation of cellular response to insulin stimulus. Is active in cytoplasm.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

BKLHD1; BTB and kelch domain containing 1; BTB and kelch domain-containing protein 1; kelch repeat and BTB (POZ) domain containing 2; kelch repeat and BTB domain-containing protein 2

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

AC080112.2

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	7	32,868,172 - 32,892,166 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	7	32,868,172 - 32,894,131 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	7	32,907,784 - 32,931,372 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	32,874,309 - 32,897,897 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	7	32,889,471 - 32,913,155 (-)	NCBI		Celera
Cytogenetic Map	7	p14.3	NCBI
HuRef	7	32,786,770 - 32,810,454 (-)	NCBI		HuRef
CHM1_1	7	32,907,579 - 32,931,252 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	7	33,007,774 - 33,031,785 (-)	NCBI		T2T-CHM13v2.0
CRA_TCAGchr7v2	7	32,952,292 - 32,975,978 (-)	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

pleomorphic xanthoastrocytoma (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-epigallocatechin 3-gallate (EXP)

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

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

2,4-dinitrotoluene (ISO)

2-hydroxypropanoic acid (EXP)

3-chloropropane-1,2-diol (ISO)

4,4'-diaminodiphenylmethane (ISO)

afimoxifene (EXP)

antirheumatic drug (EXP)

arsenite(3-) (EXP)

benzo[a]pyrene (EXP)

cadmium dichloride (ISO)

chlorpyrifos (ISO)

copper atom (ISO)

copper(0) (ISO)

Dibutyl phosphate (EXP)

dorsomorphin (EXP)

doxorubicin (EXP)

ethanol (ISO)

fluoranthene (ISO)

folic acid (ISO)

furan (ISO)

geldanamycin (EXP)

gentamycin (ISO)

leflunomide (EXP)

methylmercury chloride (EXP)

paracetamol (ISO)

potassium chromate (EXP)

rac-lactic acid (EXP)

resveratrol (EXP)

SB 431542 (EXP)

thimerosal (EXP)

thioacetamide (ISO)

titanium dioxide (ISO)

toxaphene (ISO)

trichostatin A (EXP)

triphenyl phosphate (EXP)

triptonide (ISO)

urethane (EXP)

valproic acid (EXP)

vitamin E (EXP)

vorinostat (EXP)

zinc atom (EXP)

zinc(0) (EXP)

zoledronic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

gene expression (IEA,ISO)

glucose metabolic process (IEA,ISO)

lipid metabolic process (IEA,ISO)

phosphatidylinositol 3-kinase/protein kinase B signal transduction (IEA,ISO)

proteasome-mediated ubiquitin-dependent protein catabolic process (IBA)

protein K48-linked ubiquitination (IDA)

protein ubiquitination (IEA)

regulation of cellular response to insulin stimulus (IDA)

response to insulin (IEA,ISO)

Cellular Component

Cul3-RING ubiquitin ligase complex (IBA)

cytoplasm (IBA,IDA)

Molecular Function

ubiquitin-like ligase-substrate adaptor activity (IBA,IDA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Pleomorphic xanthoastrocytoma (IAGP)

References

References - curated

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

Additional References at PubMed

PMID:10810093	PMID:10819331	PMID:12477932	PMID:15489334	PMID:18775313	PMID:21145461	PMID:21873635	PMID:22658674	PMID:26186194	PMID:27708159	PMID:28514442	PMID:28718761
PMID:33961781	PMID:34315543	PMID:34878901	PMID:35563538	PMID:35844135	PMID:36215168	PMID:37495603	PMID:38332366

Genomics

Comparative Map Data

KBTBD2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	7	32,868,172 - 32,892,166 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	7	32,868,172 - 32,894,131 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	7	32,907,784 - 32,931,372 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	32,874,309 - 32,897,897 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	7	32,889,471 - 32,913,155 (-)	NCBI		Celera
Cytogenetic Map	7	p14.3	NCBI
HuRef	7	32,786,770 - 32,810,454 (-)	NCBI		HuRef
CHM1_1	7	32,907,579 - 32,931,252 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	7	33,007,774 - 33,031,785 (-)	NCBI		T2T-CHM13v2.0
CRA_TCAGchr7v2	7	32,952,292 - 32,975,978 (-)	NCBI

Kbtbd2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	6	56,754,510 - 56,774,798 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	6	56,754,509 - 56,774,798 (-)	Ensembl		GRCm39 Ensembl
GRCm38	6	56,777,525 - 56,797,813 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	6	56,777,524 - 56,797,813 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	6	56,727,519 - 56,747,807 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	6	56,707,102 - 56,709,887 (-)	NCBI		MGSCv36	mm8
Celera	6	57,540,246 - 57,560,571 (-)	NCBI		Celera
Cytogenetic Map	6	B3	NCBI
cM Map	6	27.73	NCBI

Kbtbd2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	4	87,358,133 - 87,380,399 (-)	NCBI		GRCr8
mRatBN7.2	4	86,027,947 - 86,050,266 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	4	86,027,947 - 86,050,211 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	4	91,262,219 - 91,284,488 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	4	87,037,643 - 87,059,912 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	4	85,438,820 - 85,461,060 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	4	87,088,759 - 87,111,576 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	4	87,088,759 - 87,111,025 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	4	151,741,021 - 151,763,287 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	4	85,733,475 - 85,755,741 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	4	85,978,120 - 85,991,249 (-)	NCBI
Celera	4	80,859,557 - 80,881,788 (-)	NCBI		Celera
Cytogenetic Map	4	q24	NCBI

Kbtbd2
(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	NW_004955617	137,854 - 157,801 (-)	NCBI	ChiLan1.0	ChiLan1.0

KBTBD2
(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	6	37,661,418 - 37,688,536 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	7	85,986,151 - 86,013,240 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	7	33,463,369 - 33,490,367 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	7	33,864,738 - 33,892,200 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	7	33,863,972 - 33,892,200 (-)	Ensembl	panpan1.1		panPan2

KBTBD2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	14	44,941,116 - 45,001,887 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	14	44,941,448 - 44,994,047 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	14	44,385,656 - 44,450,680 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	14	44,889,626 - 44,955,299 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	14	44,923,608 - 45,127,972 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	14	44,994,620 - 45,059,628 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	14	44,708,352 - 44,740,608 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	14	45,049,246 - 45,114,585 (-)	NCBI		UU_Cfam_GSD_1.0

Kbtbd2
(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_024405118	89,425,193 - 89,451,758 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936478	8,638,098 - 8,651,157 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936478	8,636,923 - 8,663,152 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

KBTBD2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	18	40,604,558 - 40,637,085 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	18	40,604,458 - 40,636,401 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	18	44,530,682 - 44,555,449 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

KBTBD2
(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	21	25,545,659 - 25,569,390 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	21	25,557,630 - 25,568,209 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666042	81,453,214 - 81,479,265 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Kbtbd2
(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_004624896	2,998,845 - 3,015,281 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624896	2,998,990 - 3,014,989 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in KBTBD2
27 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	copy number gain	See cases [RCV000051159]	Chr7:54185..41875885 [GRCh38] Chr7:54185..41915483 [GRCh37] Chr7:149268..41882008 [NCBI36] Chr7:7p22.3-14.1	pathogenic
GRCh38/hg38 7p14.3(chr7:30420933-34560665)x3	copy number gain	See cases [RCV000051178]	Chr7:30420933..34560665 [GRCh38] Chr7:30460549..34600277 [GRCh37] Chr7:30427074..34566802 [NCBI36] Chr7:7p14.3	pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1	copy number loss	See cases [RCV000052250]	Chr7:53985..159282531 [GRCh38] Chr7:53985..159075220 [GRCh37] Chr7:149068..158767981 [NCBI36] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	copy number gain	See cases [RCV000053530]	Chr7:54185..37089712 [GRCh38] Chr7:54185..37129317 [GRCh37] Chr7:149268..37095842 [NCBI36] Chr7:7p22.3-14.2	pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	copy number loss	See cases [RCV000135401]	Chr7:54185..159282390 [GRCh38] Chr7:54185..159075079 [GRCh37] Chr7:149268..158767840 [NCBI36] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7p14.3-14.1(chr7:32678391-41044983)x1	copy number loss	See cases [RCV000140283]	Chr7:32678391..41044983 [GRCh38] Chr7:32718003..41084581 [GRCh37] Chr7:32684528..41051106 [NCBI36] Chr7:7p14.3-14.1	pathogenic
GRCh38/hg38 7p14.3(chr7:30938370-33400996)x1	copy number loss	See cases [RCV000141441]	Chr7:30938370..33400996 [GRCh38] Chr7:30977985..33440608 [GRCh37] Chr7:30944510..33407133 [NCBI36] Chr7:7p14.3	likely pathogenic
TMEM106B-BRAF fusion	deletion	Pleomorphic xanthoastrocytoma [RCV000454357]	Chr7:12258147..140494267 [GRCh37] Chr7:7p21.3-q34	pathogenic
GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	copy number gain	See cases [RCV000446478]	Chr7:11562624..36395416 [GRCh37] Chr7:7p21.3-14.2	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1	copy number loss	See cases [RCV000446044]	Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1	copy number loss	See cases [RCV000446955]	Chr7:32911003..44576005 [GRCh37] Chr7:7p14.3-13	pathogenic
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	copy number gain	See cases [RCV000512091]	Chr7:11048840..52863626 [GRCh37] Chr7:7p21.3-12.1	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	copy number gain	See cases [RCV000510686]	Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	copy number gain	See cases [RCV000511549]	Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
NM_015483.3(KBTBD2):c.1671A>C (p.Glu557Asp)	single nucleotide variant	not specified [RCV004322201]	Chr7:32869546 [GRCh38] Chr7:32909158 [GRCh37] Chr7:7p14.3	uncertain significance
GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3	copy number gain	not provided [RCV000682909]	Chr7:30463886..43470805 [GRCh37] Chr7:7p14.3-13	pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	inversion	Childhood apraxia of speech [RCV000234948]	Chr7:21001537..114528369 [GRCh37] Chr7:7p15.3-q31.1	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3	copy number gain	not provided [RCV000746280]	Chr7:44935..159126310 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3	copy number gain	not provided [RCV000746278]	Chr7:10704..159122532 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	copy number gain	not provided [RCV000848126]	Chr7:10365..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1	copy number loss	not provided [RCV001005924]	Chr7:23877135..33139446 [GRCh37] Chr7:7p15.3-14.3	pathogenic
Single allele	complex	Ring chromosome 7 [RCV002280646]	Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473)	copy number gain	not specified [RCV002053677]	Chr7:27507832..39072473 [GRCh37] Chr7:7p15.2-14.1	likely pathogenic
GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	copy number gain	not specified [RCV002053668]	Chr7:10745750..35305167 [GRCh37] Chr7:7p21.3-14.2	likely pathogenic
GRCh37/hg19 7p15.3-14.3(chr7:25451740-33864069)	copy number loss	Cyclical vomiting syndrome [RCV002280775]	Chr7:25451740..33864069 [GRCh37] Chr7:7p15.3-14.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	copy number loss	See cases [RCV002287832]	Chr7:56604613..96692931 [GRCh37] Chr7:7p22.3-q36.3	uncertain significance
NM_015483.3(KBTBD2):c.1543A>G (p.Ile515Val)	single nucleotide variant	not specified [RCV004147377]	Chr7:32869674 [GRCh38] Chr7:32909286 [GRCh37] Chr7:7p14.3	uncertain significance
GRCh37/hg19 7p15.2-14.3(chr7:27133786-34466477)x1	copy number loss	not provided [RCV002475752]	Chr7:27133786..34466477 [GRCh37] Chr7:7p15.2-14.3	pathogenic
NM_015483.3(KBTBD2):c.1798A>G (p.Thr600Ala)	single nucleotide variant	not specified [RCV004207442]	Chr7:32869419 [GRCh38] Chr7:32909031 [GRCh37] Chr7:7p14.3	uncertain significance
NM_015483.3(KBTBD2):c.1679G>A (p.Arg560Gln)	single nucleotide variant	not specified [RCV004236690]	Chr7:32869538 [GRCh38] Chr7:32909150 [GRCh37] Chr7:7p14.3	uncertain significance
NM_015483.3(KBTBD2):c.719A>G (p.Asn240Ser)	single nucleotide variant	not specified [RCV004151881]	Chr7:32870498 [GRCh38] Chr7:32910110 [GRCh37] Chr7:7p14.3	uncertain significance
NM_015483.3(KBTBD2):c.1234G>A (p.Val412Ile)	single nucleotide variant	not specified [RCV004187538]	Chr7:32869983 [GRCh38] Chr7:32909595 [GRCh37] Chr7:7p14.3	uncertain significance
NM_015483.3(KBTBD2):c.320C>T (p.Thr107Ile)	single nucleotide variant	not specified [RCV004150594]	Chr7:32875008 [GRCh38] Chr7:32914620 [GRCh37] Chr7:7p14.3	uncertain significance
NM_015483.3(KBTBD2):c.1568C>T (p.Pro523Leu)	single nucleotide variant	not specified [RCV004232198]	Chr7:32869649 [GRCh38] Chr7:32909261 [GRCh37] Chr7:7p14.3	uncertain significance
NM_015483.3(KBTBD2):c.1573G>A (p.Val525Ile)	single nucleotide variant	not specified [RCV004234843]	Chr7:32869644 [GRCh38] Chr7:32909256 [GRCh37] Chr7:7p14.3	uncertain significance
NM_015483.3(KBTBD2):c.453T>G (p.Ser151Arg)	single nucleotide variant	not specified [RCV004076016]	Chr7:32870764 [GRCh38] Chr7:32910376 [GRCh37] Chr7:7p14.3	uncertain significance
NM_015483.3(KBTBD2):c.1022A>C (p.Gln341Pro)	single nucleotide variant	not specified [RCV004228042]	Chr7:32870195 [GRCh38] Chr7:32909807 [GRCh37] Chr7:7p14.3	uncertain significance
NM_015483.3(KBTBD2):c.1541A>G (p.Asn514Ser)	single nucleotide variant	not specified [RCV004152579]	Chr7:32869676 [GRCh38] Chr7:32909288 [GRCh37] Chr7:7p14.3	uncertain significance
NM_015483.3(KBTBD2):c.1213G>C (p.Glu405Gln)	single nucleotide variant	not specified [RCV004275640]	Chr7:32870004 [GRCh38] Chr7:32909616 [GRCh37] Chr7:7p14.3	uncertain significance
NM_015483.3(KBTBD2):c.878A>G (p.Glu293Gly)	single nucleotide variant	not specified [RCV004269812]	Chr7:32870339 [GRCh38] Chr7:32909951 [GRCh37] Chr7:7p14.3	uncertain significance
NM_015483.3(KBTBD2):c.536A>T (p.Asp179Val)	single nucleotide variant	not specified [RCV004269987]	Chr7:32870681 [GRCh38] Chr7:32910293 [GRCh37] Chr7:7p14.3	uncertain significance
NM_015483.3(KBTBD2):c.1006A>G (p.Lys336Glu)	single nucleotide variant	not specified [RCV004354881]	Chr7:32870211 [GRCh38] Chr7:32909823 [GRCh37] Chr7:7p14.3	uncertain significance
NM_015483.3(KBTBD2):c.1670A>G (p.Glu557Gly)	single nucleotide variant	not specified [RCV004358763]	Chr7:32869547 [GRCh38] Chr7:32909159 [GRCh37] Chr7:7p14.3	uncertain significance
NM_015483.3(KBTBD2):c.1450G>A (p.Gly484Ser)	single nucleotide variant	not specified [RCV004403867]	Chr7:32869767 [GRCh38] Chr7:32909379 [GRCh37] Chr7:7p14.3	uncertain significance
NM_015483.3(KBTBD2):c.1739G>A (p.Arg580Gln)	single nucleotide variant	not specified [RCV004403868]	Chr7:32869478 [GRCh38] Chr7:32909090 [GRCh37] Chr7:7p14.3	uncertain significance
NM_015483.3(KBTBD2):c.503C>T (p.Ala168Val)	single nucleotide variant	not specified [RCV004403870]	Chr7:32870714 [GRCh38] Chr7:32910326 [GRCh37] Chr7:7p14.3	uncertain significance
NM_015483.3(KBTBD2):c.1673T>G (p.Leu558Arg)	single nucleotide variant	not specified [RCV004635999]	Chr7:32869544 [GRCh38] Chr7:32909156 [GRCh37] Chr7:7p14.3	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	879
Count of miRNA genes:	588
Interacting mature miRNAs:	642
Transcripts:	ENST00000304056, ENST00000423022, ENST00000424468, ENST00000452926, ENST00000453627, ENST00000477129, ENST00000485611
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.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597354650	GWAS1450724_H	body height QTL GWAS1450724 (human)		5e-89	body height (VT:0001253)	body height (CMO:0000106)	7	32877579	32877580	Human
597333083	GWAS1429157_H	neuroimaging measurement QTL GWAS1429157 (human)		0.000002	neuroimaging measurement		7	32878582	32878583	Human
597032438	GWAS1128512_H	body height QTL GWAS1128512 (human)		1e-33	body height (VT:0001253)	body height (CMO:0000106)	7	32868309	32868310	Human
597517721	GWAS1613795_H	Tinnitus QTL GWAS1613795 (human)		0.0000005	Tinnitus		7	32890985	32890986	Human
597303358	GWAS1399432_H	glomerular filtration rate QTL GWAS1399432 (human)		2e-22	glomerular filtration rate	glomerular filtration rate (CMO:0000490)	7	32891264	32891265	Human
597093331	GWAS1189405_H	creatinine measurement, glomerular filtration rate QTL GWAS1189405 (human)		3e-08	creatinine measurement, glomerular filtration rate	glomerular filtration rate (CMO:0000490)	7	32880315	32880316	Human
597298813	GWAS1394887_H	body height QTL GWAS1394887 (human)		4e-18	body height (VT:0001253)	body height (CMO:0000106)	7	32868309	32868310	Human
597031325	GWAS1127399_H	glomerular filtration rate QTL GWAS1127399 (human)		2e-14	glomerular filtration rate	glomerular filtration rate (CMO:0000490)	7	32891264	32891265	Human
597084988	GWAS1181062_H	mean corpuscular hemoglobin QTL GWAS1181062 (human)		5e-16	mean corpuscular hemoglobin	mean corpuscular hemoglobin (CMO:0000290)	7	32877938	32877939	Human
597261746	GWAS1357820_H	serum metabolite measurement QTL GWAS1357820 (human)		0.000005	serum metabolite measurement		7	32871003	32871004	Human
1559132	SAPOB3_H	Serum apolipoprotein B level QTL 3 (human)	2	0.4	Apolipoprotein level	apolipoprotein B	7	32891074	58891074	Human
406990831	GWAS639807_H	mean corpuscular hemoglobin concentration QTL GWAS639807 (human)		3e-19	mean corpuscular hemoglobin concentration	mean corpuscular hemoglobin concentration (CMO:0000291)	7	32877938	32877939	Human
2289453	BW297_H	Body weight QTL 297 (human)	3.83		Body weight	body mass index	7	23349464	49349464	Human
597109336	GWAS1205410_H	mathematical ability QTL GWAS1205410 (human)		2e-08	mathematical ability		7	32877938	32877939	Human
406998385	GWAS647361_H	mean corpuscular volume QTL GWAS647361 (human)		5e-20	mean corpuscular volume	mean corpuscular volume (CMO:0000038)	7	32868523	32868524	Human
597280429	GWAS1376503_H	body height QTL GWAS1376503 (human)		3e-29	body height (VT:0001253)	body height (CMO:0000106)	7	32868309	32868310	Human
597119043	GWAS1215117_H	appendicular lean mass QTL GWAS1215117 (human)		2e-19	appendicular lean mass		7	32868309	32868310	Human
406988150	GWAS637126_H	mean corpuscular hemoglobin concentration QTL GWAS637126 (human)		3e-18	mean corpuscular hemoglobin concentration	mean corpuscular hemoglobin concentration (CMO:0000291)	7	32877938	32877939	Human
597310125	GWAS1406199_H	glomerular filtration rate QTL GWAS1406199 (human)		2e-15	glomerular filtration rate	glomerular filtration rate (CMO:0000490)	7	32891264	32891265	Human
596979436	GWAS1098955_H	body height QTL GWAS1098955 (human)		3e-29	body height (VT:0001253)	body height (CMO:0000106)	7	32868309	32868310	Human
597266816	GWAS1362890_H	body height QTL GWAS1362890 (human)		6e-11	body height (VT:0001253)	body height (CMO:0000106)	7	32868716	32868717	Human
597332672	GWAS1428746_H	neuroimaging measurement QTL GWAS1428746 (human)		0.000005	neuroimaging measurement		7	32878582	32878583	Human
597133002	GWAS1229076_H	body height QTL GWAS1229076 (human)		3e-17	body height (VT:0001253)	body height (CMO:0000106)	7	32875592	32875593	Human

Markers in Region

RH92901

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	32,914,645 - 32,914,771	UniSTS	GRCh37
Build 36	7	32,881,170 - 32,881,296	RGD	NCBI36
Celera	7	32,896,338 - 32,896,464	RGD
Cytogenetic Map	7	p14.3	UniSTS
HuRef	7	32,793,635 - 32,793,761	UniSTS
CRA_TCAGchr7v2	7	32,959,159 - 32,959,285	UniSTS
GeneMap99-GB4 RH Map	7	149.48	UniSTS

DKFZP566C134

Human Assembly	Chr	Position (strand)	Source
Celera	7	32,889,977 - 32,890,267	RGD
HuRef	7	32,787,276 - 32,787,566	UniSTS
CRA_TCAGchr7v2	7	32,952,798 - 32,953,088	UniSTS

WI-11592

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	32,907,814 - 32,907,930	UniSTS	GRCh37
Build 36	7	32,874,339 - 32,874,455	RGD	NCBI36
Celera	7	32,889,507 - 32,889,623	RGD
Cytogenetic Map	7	p14.3	UniSTS
HuRef	7	32,786,806 - 32,786,922	UniSTS
CRA_TCAGchr7v2	7	32,952,328 - 32,952,444	UniSTS
GeneMap99-GB4 RH Map	7	152.14	UniSTS
Whitehead-RH Map	7	87.1	UniSTS
NCBI RH Map	7	529.2	UniSTS

STS-N74357

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	32,910,530 - 32,910,725	UniSTS	GRCh37
Build 36	7	32,877,055 - 32,877,250	RGD	NCBI36
Celera	7	32,892,223 - 32,892,418	RGD
Cytogenetic Map	7	p14.3	UniSTS
HuRef	7	32,789,522 - 32,789,717	UniSTS
CRA_TCAGchr7v2	7	32,955,044 - 32,955,239	UniSTS
GeneMap99-GB4 RH Map	7	148.23	UniSTS
NCBI RH Map	7	467.5	UniSTS

RH46406

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	32,910,528 - 32,910,702	UniSTS	GRCh37
Build 36	7	32,877,053 - 32,877,227	RGD	NCBI36
Celera	7	32,892,221 - 32,892,395	RGD
Cytogenetic Map	7	p14.3	UniSTS
HuRef	7	32,789,520 - 32,789,694	UniSTS
CRA_TCAGchr7v2	7	32,955,042 - 32,955,216	UniSTS
GeneMap99-GB4 RH Map	7	154.34	UniSTS

Expression

RNA-SEQ Expression

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

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4974	1726	2351	6	624	1951	465	2270	7306	6472	53	3734	1	852	1744	1617	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_015483	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005249696	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005249697	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011515256	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011515257	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047420124	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047420125	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047420126	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047420127	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054357773	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054357774	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054357775	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054357776	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054357777	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054357778	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AACC02000103	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB040922	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC018648	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF004292	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF151831	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF161402	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK024557	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK292802	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL117562	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC014633	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC032367	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC037887	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC047107	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471073	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068271	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000304056 ⟹ ENSP00000302586

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	32,868,172 - 32,891,760 (-)	Ensembl

Ensembl Acc Id:

ENST00000423022 ⟹ ENSP00000407520

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	32,879,564 - 32,891,153 (-)	Ensembl

Ensembl Acc Id:

ENST00000424468 ⟹ ENSP00000388236

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	32,879,592 - 32,892,733 (-)	Ensembl

Ensembl Acc Id:

ENST00000452926 ⟹ ENSP00000395715

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	32,879,462 - 32,892,144 (-)	Ensembl

Ensembl Acc Id:

ENST00000453627 ⟹ ENSP00000407059

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	32,879,516 - 32,894,131 (-)	Ensembl

Ensembl Acc Id:

ENST00000477129

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	32,874,522 - 32,879,493 (-)	Ensembl

Ensembl Acc Id:

ENST00000485611

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	32,870,808 - 32,892,144 (-)	Ensembl

Ensembl Acc Id:

ENST00000621876 ⟹ ENSP00000481197

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	32,870,087 - 32,879,672 (-)	Ensembl

RefSeq Acc Id:

NM_015483 ⟹ NP_056298

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	32,868,172 - 32,891,760 (-)	NCBI
GRCh37	7	32,907,778 - 32,931,468 (-)	RGD
Build 36	7	32,874,309 - 32,897,897 (-)	NCBI Archive
Celera	7	32,889,471 - 32,913,155 (-)	RGD
HuRef	7	32,786,770 - 32,810,454 (-)	RGD
CHM1_1	7	32,907,579 - 32,931,252 (-)	NCBI
T2T-CHM13v2.0	7	33,007,774 - 33,031,357 (-)	NCBI
CRA_TCAGchr7v2	7	32,952,292 - 32,975,978 (-)	ENTREZGENE

Sequence:

show sequence

AGAGGACGCTGCTTTCCGCGCTGGACGGACCAAGCGAGGGAGGGTGCGAGGGGAAACCGGAAGG
AAGAGGCGGCGGCGCCAGCCTTCCTCGGCCGGAGGCGGAGGCGAGACCCCAGGCGAGGCCGCGG
CGGGAGGGCCACGCCCCCGCCGCCGCGCCGGAGGGGCCCAGTGTGGACGGGGCCACCGGCTGGA
GCGGATCCCACACCTCCGGACCGAGGGACGCGGTTACTCCACAGGATCCGCTGAACATAGGATG
TTGCCACAAAATCTACCTCGTGTATTTTTCTCTTTCACTCATGAGCTGCACAATTGCAGATTTG
AGCACAATGTCTGCAGACTGTGTTGAAAAACTCTGAAGAACCTAATTAACACAGGATGACCTAG
GAGTGATTCTAAGTCTGTGTAACAAGATATTACTCATTAGTGAATGTGTCAGTCTTGGTACTGA
ATGCTGCAGATAACAGCAAGTAGGTTCTCCTTTATTTCTGAAGTATTCACTTGACCTTCCATCA
GTAAGACGGACTTTTCTAATCTGTTCCTGGAGATATTAATGGAATACAGTCATGTCCACTCAAG
ACGAGAGGCAGATCAATACTGAATATGCTGTGTCATTGTTGGAACAGTTGAAACTGTTTTATGA
ACAGCAGTTGTTTACTGACATAGTGTTAATTGTTGAGGGCACTGAATTCCCTTGTCATAAGATG
GTTCTTGCAACATGTAGCTCTTATTTCAGGGCCATGTTTATGAGTGGACTAAGTGAAAGCAAAC
AAACCCATGTACACCTGAGGAATGTCGATGCTGCCACCTTACAGATAATAATAACTTATGCATA
CACGGGTAACTTGGCAATGAATGACAGCACTGTAGAACAGCTTTATGAAACAGCTTGCTTCCTA
CAGGTAGAAGATGTGTTACAACGTTGTCGAGAATATTTAATTAAAAAAATAAATGCAGAGAATT
GTGTACGATTGTTGAGTTTTGCTGATCTCTTCAGTTGTGAGGAATTAAAACAGAGTGCTAAAAG
AATGGTGGAGCACAAGTTCACTGCTGTGTATCATCAGGACGCGTTCATGCAGCTGTCACATGAC
CTACTGATAGATATTCTCAGTAGTGACAATTTAAATGTAGAAAAGGAAGAAACCGTTCGAGAAG
CTGCTATGCTGTGGCTAGAGTATAACACAGAATCACGATCCCAGTATTTGTCTTCTGTTCTTAG
CCAAATCAGAATTGATGCACTTTCAGAAGTAACACAGAGAGCTTGGTTTCAAGGTCTGCCACCC
AATGATAAGTCAGTGGTGGTTCAAGGTCTGTATAAGTCCATGCCCAAGTTTTTCAAACCAAGAC
TTGGGATGACTAAAGAGGAAATGATGATTTTCATTGAAGCATCTTCAGAAAATCCTTGTAGTCT
TTACTCTTCTGTCTGTTACAGCCCCCAAGCAGAAAAAGTTTACAAGTTATGTAGCCCACCAGCT
GATTTGCATAAGGTTGGGACCGTTGTAACTCCTGATAATGATATCTACATAGCAGGGGGTCAAG
TTCCTCTGAAAAACACAAAAACAAATCACAGTAAAACAAGCAAACTTCAGACTGCCTTCAGAAC
TGTGAATTGCTTTTATTGGTTTGATGCACAGCAAAATACCTGGTTTCCAAAGACCCCAATGCTT
TTTGTCCGCATAAAGCCATCTTTGGTTTGCTGTGAAGGCTATATCTATGCAATTGGAGGAGATA
GCGTAGGTGGAGAACTTAATCGGAGGACCGTAGAAAGATACGACACTGAGAAAGATGAGTGGAC
GATGGTAAGCCCTTTACCTTGTGCTTGGCAATGGAGTGCAGCAGTTGTGGTTCATGACTGCATT
TATGTGATGACACTGAACCTCATGTACTGTTATTTTCCAAGGTCTGACTCATGGGTAGAAATGG
CCATGAGACAGACTAGTAGGTCCTTTGCTTCAGCTGCAGCTTTTGGTGATAAAATTTTCTATAT
TGGAGGGTTGCATATTGCTACCAATTCCGGCATAAGACTCCCCTCTGGCACTGTAGATGGGTCT
TCAGTAACTGTGGAAATTTATGATGTGAATAAAAATGAGTGGAAAATGGCAGCCAACATCCCTG
CTAAGAGGTACTCTGACCCCTGTGTTAGAGCTGTTGTGATCTCAAATTCTCTATGTGTGTTTAT
GCGAGAAACCCACTTAAATGAGCGAGCTAAATACGTCACCTACCAATATGACCTGGAACTTGAC
CGGTGGTCTCTGCGGCAGCATATATCTGAACGTGTACTGTGGGACTTGGGGAGAGATTTTCGAT
GCACTGTGGGGAAACTCTATCCATCCTGCCTTGAAGAGTCTCCATGGAAACCACCAACTTATCT
TTTTTCAACGGATGGGACAGAAGAGTTTGAACTGGATGGAGAAATGGTTGCACTACCACCTGTA
TAGTGGGGAAGTTCAGGGAGTGCACGCCTGAGTTATGTGCTTTGTCATTTTCTTTGCTAAACAA
AAGAGGCTATGAAAGAACTAAATATGAGTACATAAAATTCTATCTTTGATAAATTTTATTTTTA
TGCCCTACTTAATATTTGCATCAGTATAATATATATCAGTGAGTCTTACAGAAAGATATGCTTC
CATAATATGAAATAGATTATTCAATAATTGAGAAACTTTATGTGTAATCATGAGAGTATAAGAA
TCTGGATTATCTAACATTGTTAGCCCTGTGTATGTACAGTTCAAAAAGTTCATTTATAAAAGTA
GTTTCCTGTTCCTAGTGTGATGTATCACAAATTGTGCTGAGGTTATTTTAGTATGTGTGTTTCA
TTCCCGTGCTTCTGTTCTGAAGTCCTGGAATACAGTTTTCAGTGTAATTAATTCAACTGCACTT
AACACTAATGTCCGTGTTGGTATAGAAATGTCTAAATCCTATACTCTAGTTGAGGAAGATCTTC
CATAATTTTATGGTATTACACAGGGAAAGCTATGACTGCAGGATCAGTCTAACTATACTATTAG
GTGCATGTATTCTCTTTTCACTAACTTATACTTGTCTATCTAGAATACAGGTCTTCCAGTCAGC
TGGTCATTTACCAGGTGTGGACTTAAGTTGCTAGGCTTGCAGTAAGAATTGCCAGCCACTCATT
GTGCGGGTCTGCGTGGAGCTTTAATCAGAAAAAGCCTCCACTTTCTGTATTATGTTAACATTGG
CTCATGCATATAACTATCTGCTGCTGATGTAGTTCTCCATCTTCAAGATTTAGAGTGGGTTAAC
CAGGTCATTACATCTTAATTTAATAACAAGCATTACTGTAGAGTGATTGTGTATAGATCTGTTA
GCTGTCAGGGTGTGTTTTTTTTAACCTGTTGTGTGCGTGTGGGGGTTAGGATTAGTAAGGTGAA
CTGTTCAGGAATTCTCTGCACTAGCTGTGCAGAAGAGCAGATAACTAGCGCTGCTCTGGCATTA
ATCCCAGGAACCACTAGCAGTAGTGGGGCGCCGCCAATCTAACATGAGCACAGGTGCTTCATGA
CAAACATTACTAGCATGTTCAACTGCACCATGTTCTGGCACTGTATTTTGAATGACATTAATTT
ATTAAATAAATTGTATATATTCAA

hide sequence

RefSeq Acc Id:

XM_005249696 ⟹ XP_005249753

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	32,868,172 - 32,891,285 (-)	NCBI
GRCh37	7	32,907,778 - 32,931,468 (-)	NCBI

Sequence:

show sequence

AAAGACTCGCGACGTGTTCGCGACATGGTGGGCCGAAGGAGGACACCCCCTTCCTTCTGTATTC
CCCCCGCGTACATCTGAACTAACCAAGAGAGGTCTAGACGAACAGAGCTCCTGTTATGGTCTAT
ATCGACTTAAAAAAGAAAGCAGAAACTGCCCTTTGAAACGGAAAATTGTTTACTCCACAGGATC
CGCTGAACATAGGATGTTGCCACAAAATCTACCTCGTGTATTTTTCTCTTTCACTCATGAGCTG
CACAATTGCAGATTTGAGCACAATGTCTGCAGACTGTGTTGAAAAACTCTGAAGAACCTAATTA
ACACAGGATGACCTAGGAGTGATTCTAAGTCTGTGTAACAAGATATTACTCATTAGTGAATGTG
TCAGTCTTGGTACTGAATGCTGCAGATAACAGCAAGTAGGTTCTCCTTTATTTCTGAAGTATTC
ACTTGACCTTCCATCAGTAAGACGGACTTTTCTAATCTGTTCCTGGAGATATTAATGGAATACA
GTCATGTCCACTCAAGACGAGAGGCAGATCAATACTGAATATGCTGTGTCATTGTTGGAACAGT
TGAAACTGTTTTATGAACAGCAGTTGTTTACTGACATAGTGTTAATTGTTGAGGGCACTGAATT
CCCTTGTCATAAGATGGTTCTTGCAACATGTAGCTCTTATTTCAGGGCCATGTTTATGAGTGGA
CTAAGTGAAAGCAAACAAACCCATGTACACCTGAGGAATGTCGATGCTGCCACCTTACAGATAA
TAATAACTTATGCATACACGGGTAACTTGGCAATGAATGACAGCACTGTAGAACAGCTTTATGA
AACAGCTTGCTTCCTACAGGTAGAAGATGTGTTACAACGTTGTCGAGAATATTTAATTAAAAAA
ATAAATGCAGAGAATTGTGTACGATTGTTGAGTTTTGCTGATCTCTTCAGTTGTGAGGAATTAA
AACAGAGTGCTAAAAGAATGGTGGAGCACAAGTTCACTGCTGTGTATCATCAGGACGCGTTCAT
GCAGCTGTCACATGACCTACTGATAGATATTCTCAGTAGTGACAATTTAAATGTAGAAAAGGAA
GAAACCGTTCGAGAAGCTGCTATGCTGTGGCTAGAGTATAACACAGAATCACGATCCCAGTATT
TGTCTTCTGTTCTTAGCCAAATCAGAATTGATGCACTTTCAGAAGTAACACAGAGAGCTTGGTT
TCAAGGTCTGCCACCCAATGATAAGTCAGTGGTGGTTCAAGGTCTGTATAAGTCCATGCCCAAG
TTTTTCAAACCAAGACTTGGGATGACTAAAGAGGAAATGATGATTTTCATTGAAGCATCTTCAG
AAAATCCTTGTAGTCTTTACTCTTCTGTCTGTTACAGCCCCCAAGCAGAAAAAGTTTACAAGTT
ATGTAGCCCACCAGCTGATTTGCATAAGGTTGGGACCGTTGTAACTCCTGATAATGATATCTAC
ATAGCAGGGGGTCAAGTTCCTCTGAAAAACACAAAAACAAATCACAGTAAAACAAGCAAACTTC
AGACTGCCTTCAGAACTGTGAATTGCTTTTATTGGTTTGATGCACAGCAAAATACCTGGTTTCC
AAAGACCCCAATGCTTTTTGTCCGCATAAAGCCATCTTTGGTTTGCTGTGAAGGCTATATCTAT
GCAATTGGAGGAGATAGCGTAGGTGGAGAACTTAATCGGAGGACCGTAGAAAGATACGACACTG
AGAAAGATGAGTGGACGATGGTAAGCCCTTTACCTTGTGCTTGGCAATGGAGTGCAGCAGTTGT
GGTTCATGACTGCATTTATGTGATGACACTGAACCTCATGTACTGTTATTTTCCAAGGTCTGAC
TCATGGGTAGAAATGGCCATGAGACAGACTAGTAGGTCCTTTGCTTCAGCTGCAGCTTTTGGTG
ATAAAATTTTCTATATTGGAGGGTTGCATATTGCTACCAATTCCGGCATAAGACTCCCCTCTGG
CACTGTAGATGGGTCTTCAGTAACTGTGGAAATTTATGATGTGAATAAAAATGAGTGGAAAATG
GCAGCCAACATCCCTGCTAAGAGGTACTCTGACCCCTGTGTTAGAGCTGTTGTGATCTCAAATT
CTCTATGTGTGTTTATGCGAGAAACCCACTTAAATGAGCGAGCTAAATACGTCACCTACCAATA
TGACCTGGAACTTGACCGGTGGTCTCTGCGGCAGCATATATCTGAACGTGTACTGTGGGACTTG
GGGAGAGATTTTCGATGCACTGTGGGGAAACTCTATCCATCCTGCCTTGAAGAGTCTCCATGGA
AACCACCAACTTATCTTTTTTCAACGGATGGGACAGAAGAGTTTGAACTGGATGGAGAAATGGT
TGCACTACCACCTGTATAGTGGGGAAGTTCAGGGAGTGCACGCCTGAGTTATGTGCTTTGTCAT
TTTCTTTGCTAAACAAAAGAGGCTATGAAAGAACTAAATATGAGTACATAAAATTCTATCTTTG
ATAAATTTTATTTTTATGCCCTACTTAATATTTGCATCAGTATAATATATATCAGTGAGTCTTA
CAGAAAGATATGCTTCCATAATATGAAATAGATTATTCAATAATTGAGAAACTTTATGTGTAAT
CATGAGAGTATAAGAATCTGGATTATCTAACATTGTTAGCCCTGTGTATGTACAGTTCAAAAAG
TTCATTTATAAAAGTAGTTTCCTGTTCCTAGTGTGATGTATCACAAATTGTGCTGAGGTTATTT
TAGTATGTGTGTTTCATTCCCGTGCTTCTGTTCTGAAGTCCTGGAATACAGTTTTCAGTGTAAT
TAATTCAACTGCACTTAACACTAATGTCCGTGTTGGTATAGAAATGTCTAAATCCTATACTCTA
GTTGAGGAAGATCTTCCATAATTTTATGGTATTACACAGGGAAAGCTATGACTGCAGGATCAGT
CTAACTATACTATTAGGTGCATGTATTCTCTTTTCACTAACTTATACTTGTCTATCTAGAATAC
AGGTCTTCCAGTCAGCTGGTCATTTACCAGGTGTGGACTTAAGTTGCTAGGCTTGCAGTAAGAA
TTGCCAGCCACTCATTGTGCGGGTCTGCGTGGAGCTTTAATCAGAAAAAGCCTCCACTTTCTGT
ATTATGTTAACATTGGCTCATGCATATAACTATCTGCTGCTGATGTAGTTCTCCATCTTCAAGA
TTTAGAGTGGGTTAACCAGGTCATTACATCTTAATTTAATAACAAGCATTACTGTAGAGTGATT
GTGTATAGATCTGTTAGCTGTCAGGGTGTGTTTTTTTTAACCTGTTGTGTGCGTGTGGGGGTTA
GGATTAGTAAGGTGAACTGTTCAGGAATTCTCTGCACTAGCTGTGCAGAAGAGCAGATAACTAG
CGCTGCTCTGGCATTAATCCCAGGAACCACTAGCAGTAGTGGGGCGCCGCCAATCTAACATGAG
CACAGGTGCTTCATGACAAACATTACTAGCATGTTCAACTGCACCATGTTCTGGCACTGTATTT
TGAATGACATTAATTTATTAAATAAATTGTATATATTCAA

hide sequence

RefSeq Acc Id:

XM_011515256 ⟹ XP_011513558

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	32,868,172 - 32,892,166 (-)	NCBI

Sequence:

show sequence

AATTGTTTTGGCTTTCCGGTGGCATCCGGCAGAGGAAAAGGGCGGGGGCAGCTAGATTACTCCA
CAGGATCCGCTGAACATAGGATGTTGCCACAAAATCTACCTCGTGTATTTTTCTCTTTCACTCA
TGAGCTGCACAATTGCAGATTTGAGCACAATGTCTGCAGACTGTGTTGAAAAACTCTGAAGAAC
CTAATTAACACAGGATGACCTAGGAGTGATTCTAAGTCTGTGTAACAAGATATTACTCATTAGT
GAATGTGTCAGTCTTGGTACTGAATGCTGCAGATAACAGCAAGTAGGTTCTCCTTTATTTCTGA
AGTATTCACTTGACCTTCCATCAGTAAGACGGACTTTTCTAATCTGTTCCTGGAGATATTAATG
GAATACAGTCATGTCCACTCAAGACGAGAGGCAGATCAATACTGAATATGCTGTGTCATTGTTG
GAACAGTTGAAACTGTTTTATGAACAGCAGTTGTTTACTGACATAGTGTTAATTGTTGAGGGCA
CTGAATTCCCTTGTCATAAGATGGTTCTTGCAACATGTAGCTCTTATTTCAGGGCCATGTTTAT
GAGTGGACTAAGTGAAAGCAAACAAACCCATGTACACCTGAGGAATGTCGATGCTGCCACCTTA
CAGATAATAATAACTTATGCATACACGGGTAACTTGGCAATGAATGACAGCACTGTAGAACAGC
TTTATGAAACAGCTTGCTTCCTACAGGTAGAAGATGTGTTACAACGTTGTCGAGAATATTTAAT
TAAAAAAATAAATGCAGAGAATTGTGTACGATTGTTGAGTTTTGCTGATCTCTTCAGTTGTGAG
GAATTAAAACAGAGTGCTAAAAGAATGGTGGAGCACAAGTTCACTGCTGTGTATCATCAGGACG
CGTTCATGCAGCTGTCACATGACCTACTGATAGATATTCTCAGTAGTGACAATTTAAATGTAGA
AAAGGAAGAAACCGTTCGAGAAGCTGCTATGCTGTGGCTAGAGTATAACACAGAATCACGATCC
CAGTATTTGTCTTCTGTTCTTAGCCAAATCAGAATTGATGCACTTTCAGAAGTAACACAGAGAG
CTTGGTTTCAAGGTCTGCCACCCAATGATAAGTCAGTGGTGGTTCAAGGTCTGTATAAGTCCAT
GCCCAAGTTTTTCAAACCAAGACTTGGGATGACTAAAGAGGAAATGATGATTTTCATTGAAGCA
TCTTCAGAAAATCCTTGTAGTCTTTACTCTTCTGTCTGTTACAGCCCCCAAGCAGAAAAAGTTT
ACAAGTTATGTAGCCCACCAGCTGATTTGCATAAGGTTGGGACCGTTGTAACTCCTGATAATGA
TATCTACATAGCAGGGGGTCAAGTTCCTCTGAAAAACACAAAAACAAATCACAGTAAAACAAGC
AAACTTCAGACTGCCTTCAGAACTGTGAATTGCTTTTATTGGTTTGATGCACAGCAAAATACCT
GGTTTCCAAAGACCCCAATGCTTTTTGTCCGCATAAAGCCATCTTTGGTTTGCTGTGAAGGCTA
TATCTATGCAATTGGAGGAGATAGCGTAGGTGGAGAACTTAATCGGAGGACCGTAGAAAGATAC
GACACTGAGAAAGATGAGTGGACGATGGTAAGCCCTTTACCTTGTGCTTGGCAATGGAGTGCAG
CAGTTGTGGTTCATGACTGCATTTATGTGATGACACTGAACCTCATGTACTGTTATTTTCCAAG
GTCTGACTCATGGGTAGAAATGGCCATGAGACAGACTAGTAGGTCCTTTGCTTCAGCTGCAGCT
TTTGGTGATAAAATTTTCTATATTGGAGGGTTGCATATTGCTACCAATTCCGGCATAAGACTCC
CCTCTGGCACTGTAGATGGGTCTTCAGTAACTGTGGAAATTTATGATGTGAATAAAAATGAGTG
GAAAATGGCAGCCAACATCCCTGCTAAGAGGTACTCTGACCCCTGTGTTAGAGCTGTTGTGATC
TCAAATTCTCTATGTGTGTTTATGCGAGAAACCCACTTAAATGAGCGAGCTAAATACGTCACCT
ACCAATATGACCTGGAACTTGACCGGTGGTCTCTGCGGCAGCATATATCTGAACGTGTACTGTG
GGACTTGGGGAGAGATTTTCGATGCACTGTGGGGAAACTCTATCCATCCTGCCTTGAAGAGTCT
CCATGGAAACCACCAACTTATCTTTTTTCAACGGATGGGACAGAAGAGTTTGAACTGGATGGAG
AAATGGTTGCACTACCACCTGTATAGTGGGGAAGTTCAGGGAGTGCACGCCTGAGTTATGTGCT
TTGTCATTTTCTTTGCTAAACAAAAGAGGCTATGAAAGAACTAAATATGAGTACATAAAATTCT
ATCTTTGATAAATTTTATTTTTATGCCCTACTTAATATTTGCATCAGTATAATATATATCAGTG
AGTCTTACAGAAAGATATGCTTCCATAATATGAAATAGATTATTCAATAATTGAGAAACTTTAT
GTGTAATCATGAGAGTATAAGAATCTGGATTATCTAACATTGTTAGCCCTGTGTATGTACAGTT
CAAAAAGTTCATTTATAAAAGTAGTTTCCTGTTCCTAGTGTGATGTATCACAAATTGTGCTGAG
GTTATTTTAGTATGTGTGTTTCATTCCCGTGCTTCTGTTCTGAAGTCCTGGAATACAGTTTTCA
GTGTAATTAATTCAACTGCACTTAACACTAATGTCCGTGTTGGTATAGAAATGTCTAAATCCTA
TACTCTAGTTGAGGAAGATCTTCCATAATTTTATGGTATTACACAGGGAAAGCTATGACTGCAG
GATCAGTCTAACTATACTATTAGGTGCATGTATTCTCTTTTCACTAACTTATACTTGTCTATCT
AGAATACAGGTCTTCCAGTCAGCTGGTCATTTACCAGGTGTGGACTTAAGTTGCTAGGCTTGCA
GTAAGAATTGCCAGCCACTCATTGTGCGGGTCTGCGTGGAGCTTTAATCAGAAAAAGCCTCCAC
TTTCTGTATTATGTTAACATTGGCTCATGCATATAACTATCTGCTGCTGATGTAGTTCTCCATC
TTCAAGATTTAGAGTGGGTTAACCAGGTCATTACATCTTAATTTAATAACAAGCATTACTGTAG
AGTGATTGTGTATAGATCTGTTAGCTGTCAGGGTGTGTTTTTTTTAACCTGTTGTGTGCGTGTG
GGGGTTAGGATTAGTAAGGTGAACTGTTCAGGAATTCTCTGCACTAGCTGTGCAGAAGAGCAGA
TAACTAGCGCTGCTCTGGCATTAATCCCAGGAACCACTAGCAGTAGTGGGGCGCCGCCAATCTA
ACATGAGCACAGGTGCTTCATGACAAACATTACTAGCATGTTCAACTGCACCATGTTCTGGCAC
TGTATTTTGAATGACATTAATTTATTAAATAAATTGTATATATTCAA

hide sequence

RefSeq Acc Id:

XM_047420124 ⟹ XP_047276080

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	32,868,172 - 32,891,760 (-)	NCBI

RefSeq Acc Id:

XM_047420125 ⟹ XP_047276081

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	32,868,172 - 32,892,159 (-)	NCBI

RefSeq Acc Id:

XM_047420126 ⟹ XP_047276082

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	32,868,172 - 32,890,961 (-)	NCBI

RefSeq Acc Id:

XM_047420127 ⟹ XP_047276083

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	32,868,172 - 32,891,167 (-)	NCBI

RefSeq Acc Id:

XM_054357773 ⟹ XP_054213748

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	7	33,007,774 - 33,031,357 (-)	NCBI

RefSeq Acc Id:

XM_054357774 ⟹ XP_054213749

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	7	33,007,774 - 33,031,778 (-)	NCBI

RefSeq Acc Id:

XM_054357775 ⟹ XP_054213750

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	7	33,007,774 - 33,030,558 (-)	NCBI

RefSeq Acc Id:

XM_054357776 ⟹ XP_054213751

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	7	33,007,774 - 33,030,764 (-)	NCBI

RefSeq Acc Id:

XM_054357777 ⟹ XP_054213752

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	7	33,007,774 - 33,030,882 (-)	NCBI

RefSeq Acc Id:

XM_054357778 ⟹ XP_054213753

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	7	33,007,774 - 33,031,785 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_056298	(Get FASTA)	NCBI Sequence Viewer
	XP_005249753	(Get FASTA)	NCBI Sequence Viewer
	XP_011513558	(Get FASTA)	NCBI Sequence Viewer
	XP_047276080	(Get FASTA)	NCBI Sequence Viewer
	XP_047276081	(Get FASTA)	NCBI Sequence Viewer
	XP_047276082	(Get FASTA)	NCBI Sequence Viewer
	XP_047276083	(Get FASTA)	NCBI Sequence Viewer
	XP_054213748	(Get FASTA)	NCBI Sequence Viewer
	XP_054213749	(Get FASTA)	NCBI Sequence Viewer
	XP_054213750	(Get FASTA)	NCBI Sequence Viewer
	XP_054213751	(Get FASTA)	NCBI Sequence Viewer
	XP_054213752	(Get FASTA)	NCBI Sequence Viewer
	XP_054213753	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD34068	(Get FASTA)	NCBI Sequence Viewer
	AAF28962	(Get FASTA)	NCBI Sequence Viewer
	AAH37887	(Get FASTA)	NCBI Sequence Viewer
	AAH47107	(Get FASTA)	NCBI Sequence Viewer
	BAA96013	(Get FASTA)	NCBI Sequence Viewer
	BAF85491	(Get FASTA)	NCBI Sequence Viewer
	CAB55994	(Get FASTA)	NCBI Sequence Viewer
	EAL24459	(Get FASTA)	NCBI Sequence Viewer
	EAW94000	(Get FASTA)	NCBI Sequence Viewer
	EAW94001	(Get FASTA)	NCBI Sequence Viewer
	EAW94002	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000302586
	ENSP00000302586.4
	ENSP00000395715.1
	ENSP00000407059.1
	ENSP00000407520.1
GenBank Protein	Q8IY47	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_056298 ⟸ NM_015483

- UniProtKB:

Q8IY47 (UniProtKB/Swiss-Prot), Q9UFM7 (UniProtKB/Swiss-Prot), Q9P239 (UniProtKB/Swiss-Prot), Q86Y62 (UniProtKB/Swiss-Prot), A8K9T7 (UniProtKB/Swiss-Prot), Q9Y382 (UniProtKB/Swiss-Prot), A0A024RA38 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MSTQDERQINTEYAVSLLEQLKLFYEQQLFTDIVLIVEGTEFPCHKMVLATCSSYFRAMFMSGL
SESKQTHVHLRNVDAATLQIIITYAYTGNLAMNDSTVEQLYETACFLQVEDVLQRCREYLIKKI
NAENCVRLLSFADLFSCEELKQSAKRMVEHKFTAVYHQDAFMQLSHDLLIDILSSDNLNVEKEE
TVREAAMLWLEYNTESRSQYLSSVLSQIRIDALSEVTQRAWFQGLPPNDKSVVVQGLYKSMPKF
FKPRLGMTKEEMMIFIEASSENPCSLYSSVCYSPQAEKVYKLCSPPADLHKVGTVVTPDNDIYI
AGGQVPLKNTKTNHSKTSKLQTAFRTVNCFYWFDAQQNTWFPKTPMLFVRIKPSLVCCEGYIYA
IGGDSVGGELNRRTVERYDTEKDEWTMVSPLPCAWQWSAAVVVHDCIYVMTLNLMYCYFPRSDS
WVEMAMRQTSRSFASAAAFGDKIFYIGGLHIATNSGIRLPSGTVDGSSVTVEIYDVNKNEWKMA
ANIPAKRYSDPCVRAVVISNSLCVFMRETHLNERAKYVTYQYDLELDRWSLRQHISERVLWDLG
RDFRCTVGKLYPSCLEESPWKPPTYLFSTDGTEEFELDGEMVALPPV

hide sequence

RefSeq Acc Id:	XP_005249753 ⟸ XM_005249696
- Peptide Label:	isoform X1
- UniProtKB:	Q8IY47 (UniProtKB/Swiss-Prot), Q9UFM7 (UniProtKB/Swiss-Prot), Q9P239 (UniProtKB/Swiss-Prot), Q86Y62 (UniProtKB/Swiss-Prot), A8K9T7 (UniProtKB/Swiss-Prot), Q9Y382 (UniProtKB/Swiss-Prot), A0A024RA38 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSTQDERQINTEYAVSLLEQLKLFYEQQLFTDIVLIVEGTEFPCHKMVLATCSSYFRAMFMSGL SESKQTHVHLRNVDAATLQIIITYAYTGNLAMNDSTVEQLYETACFLQVEDVLQRCREYLIKKI NAENCVRLLSFADLFSCEELKQSAKRMVEHKFTAVYHQDAFMQLSHDLLIDILSSDNLNVEKEE TVREAAMLWLEYNTESRSQYLSSVLSQIRIDALSEVTQRAWFQGLPPNDKSVVVQGLYKSMPKF FKPRLGMTKEEMMIFIEASSENPCSLYSSVCYSPQAEKVYKLCSPPADLHKVGTVVTPDNDIYI AGGQVPLKNTKTNHSKTSKLQTAFRTVNCFYWFDAQQNTWFPKTPMLFVRIKPSLVCCEGYIYA IGGDSVGGELNRRTVERYDTEKDEWTMVSPLPCAWQWSAAVVVHDCIYVMTLNLMYCYFPRSDS WVEMAMRQTSRSFASAAAFGDKIFYIGGLHIATNSGIRLPSGTVDGSSVTVEIYDVNKNEWKMA ANIPAKRYSDPCVRAVVISNSLCVFMRETHLNERAKYVTYQYDLELDRWSLRQHISERVLWDLG RDFRCTVGKLYPSCLEESPWKPPTYLFSTDGTEEFELDGEMVALPPV hide sequence

RefSeq Acc Id:	XP_011513558 ⟸ XM_011515256
- Peptide Label:	isoform X1
- UniProtKB:	Q8IY47 (UniProtKB/Swiss-Prot), Q9UFM7 (UniProtKB/Swiss-Prot), Q9P239 (UniProtKB/Swiss-Prot), Q86Y62 (UniProtKB/Swiss-Prot), A8K9T7 (UniProtKB/Swiss-Prot), Q9Y382 (UniProtKB/Swiss-Prot), A0A024RA38 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSTQDERQINTEYAVSLLEQLKLFYEQQLFTDIVLIVEGTEFPCHKMVLATCSSYFRAMFMSGL SESKQTHVHLRNVDAATLQIIITYAYTGNLAMNDSTVEQLYETACFLQVEDVLQRCREYLIKKI NAENCVRLLSFADLFSCEELKQSAKRMVEHKFTAVYHQDAFMQLSHDLLIDILSSDNLNVEKEE TVREAAMLWLEYNTESRSQYLSSVLSQIRIDALSEVTQRAWFQGLPPNDKSVVVQGLYKSMPKF FKPRLGMTKEEMMIFIEASSENPCSLYSSVCYSPQAEKVYKLCSPPADLHKVGTVVTPDNDIYI AGGQVPLKNTKTNHSKTSKLQTAFRTVNCFYWFDAQQNTWFPKTPMLFVRIKPSLVCCEGYIYA IGGDSVGGELNRRTVERYDTEKDEWTMVSPLPCAWQWSAAVVVHDCIYVMTLNLMYCYFPRSDS WVEMAMRQTSRSFASAAAFGDKIFYIGGLHIATNSGIRLPSGTVDGSSVTVEIYDVNKNEWKMA ANIPAKRYSDPCVRAVVISNSLCVFMRETHLNERAKYVTYQYDLELDRWSLRQHISERVLWDLG RDFRCTVGKLYPSCLEESPWKPPTYLFSTDGTEEFELDGEMVALPPV hide sequence

Ensembl Acc Id:

ENSP00000407520 ⟸ ENST00000423022

Ensembl Acc Id:

ENSP00000388236 ⟸ ENST00000424468

Ensembl Acc Id:

ENSP00000481197 ⟸ ENST00000621876

Ensembl Acc Id:

ENSP00000395715 ⟸ ENST00000452926

Ensembl Acc Id:

ENSP00000407059 ⟸ ENST00000453627

Ensembl Acc Id:

ENSP00000302586 ⟸ ENST00000304056

RefSeq Acc Id:	XP_047276081 ⟸ XM_047420125
- Peptide Label:	isoform X1
- UniProtKB:	Q9UFM7 (UniProtKB/Swiss-Prot), Q9P239 (UniProtKB/Swiss-Prot), Q8IY47 (UniProtKB/Swiss-Prot), Q86Y62 (UniProtKB/Swiss-Prot), A8K9T7 (UniProtKB/Swiss-Prot), Q9Y382 (UniProtKB/Swiss-Prot), A0A024RA38 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047276080 ⟸ XM_047420124
- Peptide Label:	isoform X1
- UniProtKB:	Q9UFM7 (UniProtKB/Swiss-Prot), Q9P239 (UniProtKB/Swiss-Prot), Q8IY47 (UniProtKB/Swiss-Prot), Q86Y62 (UniProtKB/Swiss-Prot), A8K9T7 (UniProtKB/Swiss-Prot), Q9Y382 (UniProtKB/Swiss-Prot), A0A024RA38 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047276083 ⟸ XM_047420127
- Peptide Label:	isoform X1
- UniProtKB:	Q9UFM7 (UniProtKB/Swiss-Prot), Q9P239 (UniProtKB/Swiss-Prot), Q8IY47 (UniProtKB/Swiss-Prot), Q86Y62 (UniProtKB/Swiss-Prot), A8K9T7 (UniProtKB/Swiss-Prot), Q9Y382 (UniProtKB/Swiss-Prot), A0A024RA38 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047276082 ⟸ XM_047420126
- Peptide Label:	isoform X1
- UniProtKB:	Q9UFM7 (UniProtKB/Swiss-Prot), Q9P239 (UniProtKB/Swiss-Prot), Q8IY47 (UniProtKB/Swiss-Prot), Q86Y62 (UniProtKB/Swiss-Prot), A8K9T7 (UniProtKB/Swiss-Prot), Q9Y382 (UniProtKB/Swiss-Prot), A0A024RA38 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054213753 ⟸ XM_054357778
- Peptide Label:	isoform X1
- UniProtKB:	Q9UFM7 (UniProtKB/Swiss-Prot), Q9P239 (UniProtKB/Swiss-Prot), Q8IY47 (UniProtKB/Swiss-Prot), Q86Y62 (UniProtKB/Swiss-Prot), A8K9T7 (UniProtKB/Swiss-Prot), Q9Y382 (UniProtKB/Swiss-Prot), A0A024RA38 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054213749 ⟸ XM_054357774
- Peptide Label:	isoform X1
- UniProtKB:	Q9UFM7 (UniProtKB/Swiss-Prot), Q9P239 (UniProtKB/Swiss-Prot), Q8IY47 (UniProtKB/Swiss-Prot), Q86Y62 (UniProtKB/Swiss-Prot), A8K9T7 (UniProtKB/Swiss-Prot), Q9Y382 (UniProtKB/Swiss-Prot), A0A024RA38 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054213748 ⟸ XM_054357773
- Peptide Label:	isoform X1
- UniProtKB:	Q9UFM7 (UniProtKB/Swiss-Prot), Q9P239 (UniProtKB/Swiss-Prot), Q8IY47 (UniProtKB/Swiss-Prot), Q86Y62 (UniProtKB/Swiss-Prot), A8K9T7 (UniProtKB/Swiss-Prot), Q9Y382 (UniProtKB/Swiss-Prot), A0A024RA38 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054213752 ⟸ XM_054357777
- Peptide Label:	isoform X1
- UniProtKB:	Q9UFM7 (UniProtKB/Swiss-Prot), Q9P239 (UniProtKB/Swiss-Prot), Q8IY47 (UniProtKB/Swiss-Prot), Q86Y62 (UniProtKB/Swiss-Prot), A8K9T7 (UniProtKB/Swiss-Prot), Q9Y382 (UniProtKB/Swiss-Prot), A0A024RA38 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054213751 ⟸ XM_054357776
- Peptide Label:	isoform X1
- UniProtKB:	Q9UFM7 (UniProtKB/Swiss-Prot), Q9P239 (UniProtKB/Swiss-Prot), Q8IY47 (UniProtKB/Swiss-Prot), Q86Y62 (UniProtKB/Swiss-Prot), A8K9T7 (UniProtKB/Swiss-Prot), Q9Y382 (UniProtKB/Swiss-Prot), A0A024RA38 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054213750 ⟸ XM_054357775
- Peptide Label:	isoform X1
- UniProtKB:	Q9UFM7 (UniProtKB/Swiss-Prot), Q9P239 (UniProtKB/Swiss-Prot), Q8IY47 (UniProtKB/Swiss-Prot), Q86Y62 (UniProtKB/Swiss-Prot), A8K9T7 (UniProtKB/Swiss-Prot), Q9Y382 (UniProtKB/Swiss-Prot), A0A024RA38 (UniProtKB/TrEMBL)

Protein Domains

BACK BTB

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8IY47-F1-model_v2	AlphaFold	Q8IY47	1-623	view protein structure

Promoters

RGD ID:

6805835

Promoter ID:

HG_KWN:56895

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

OTTHUMT00000328896

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	7	32,885,566 - 32,886,066 (-)	MPROMDB

RGD ID:

7210333

Promoter ID:

EPDNEW_H10913

Type:

initiation region

Name:

KBTBD2_2

Description:

kelch repeat and BTB domain containing 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H10915

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	32,891,593 - 32,891,653	EPDNEW

RGD ID:

6805832

Promoter ID:

HG_KWN:56896

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000328890, OTTHUMT00000328892, OTTHUMT00000328893, OTTHUMT00000328894, OTTHUMT00000328895

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	7	32,897,726 - 32,898,947 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:21751	AgrOrtholog
COSMIC	KBTBD2	COSMIC
Ensembl Genes	ENSG00000170852	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000304056	ENTREZGENE
	ENST00000304056.9	UniProtKB/Swiss-Prot
	ENST00000423022.1	UniProtKB/TrEMBL
	ENST00000452926.1	UniProtKB/TrEMBL
	ENST00000453627.1	UniProtKB/TrEMBL
Gene3D-CATH	1.25.40.420	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	2.120.10.80	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Potassium Channel Kv1.1, Chain A	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000170852	GTEx
HGNC ID	HGNC:21751	ENTREZGENE
Human Proteome Map	KBTBD2	Human Proteome Map
InterPro	BACK	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	BTB-kelch_protein	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	BTB/POZ_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	KBTBD2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	KBTBD2_BACK	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Kelch-typ_b-propeller	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Kelch_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SKP1/BTB/POZ_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:25948	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	25948	ENTREZGENE
OMIM	619393	OMIM
PANTHER	KELCH-LIKE PROTEIN 22	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	LD33804P	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	BACK	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	BTB	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Kelch_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134892896	PharmGKB
PIRSF	Kelch-like_protein_gigaxonin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	BTB	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	BACK	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	BTB	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Kelch	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF117281	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF54695	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A024RA38	ENTREZGENE, UniProtKB/TrEMBL
	A8K9T7	ENTREZGENE
	C9JI11_HUMAN	UniProtKB/TrEMBL
	C9JUE5_HUMAN	UniProtKB/TrEMBL
	C9JZ29_HUMAN	UniProtKB/TrEMBL
	KBTB2_HUMAN	UniProtKB/Swiss-Prot
	Q86Y62	ENTREZGENE
	Q8IY47	ENTREZGENE
	Q9P239	ENTREZGENE
	Q9UFM7	ENTREZGENE
	Q9Y382	ENTREZGENE
UniProt Secondary	A8K9T7	UniProtKB/Swiss-Prot
	Q86Y62	UniProtKB/Swiss-Prot
	Q9P239	UniProtKB/Swiss-Prot
	Q9UFM7	UniProtKB/Swiss-Prot
	Q9Y382	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-02-16	KBTBD2	kelch repeat and BTB domain containing 2		kelch repeat and BTB (POZ) domain containing 2	Symbol and/or name change	5135510	APPROVED

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 Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar