KLF11 (KLF transcription factor 11)

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Gene: KLF11 (KLF transcription factor 11) Homo sapiens

Analyze

Symbol:

KLF11

Name:

KLF transcription factor 11

RGD ID:

1605424

HGNC Page

HGNC:11811

Description:

Enables DNA-binding transcription factor activity, RNA polymerase II-specific and transcription cis-regulatory region binding activity. Involved in negative regulation of cell population proliferation; positive regulation of apoptotic process; and regulation of DNA-templated transcription. Located in cytosol; focal adhesion; and nuclear body. Implicated in maturity-onset diabetes of the young type 7 and type 2 diabetes mellitus.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

FKLF; FKLF1; Krueppel-like factor 11; Kruppel like factor 11; Kruppel-like factor 11; MODY7; TGFB-inducible early growth response protein 2; TIEG-2; TIEG2; Tieg3; transforming growth factor-beta-inducible early growth response protein 2

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

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	2	10,043,550 - 10,054,836 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	2	10,042,849 - 10,054,836 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	10,183,677 - 10,194,963 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	10,101,133 - 10,112,414 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	2	10,100,586 - 10,111,182 (+)	NCBI		Celera
Cytogenetic Map	2	p25.1	NCBI
HuRef	2	10,036,117 - 10,046,713 (+)	NCBI		HuRef
CHM1_1	2	10,113,564 - 10,124,797 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	2	10,072,326 - 10,083,576 (+)	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

diabetes mellitus (IAGP)

genetic disease (IAGP)

Hepatomegaly (EXP)

Insulin Resistance (IAGP)

maturity-onset diabetes of the young (IAGP)

maturity-onset diabetes of the young type 1 (IAGP)

maturity-onset diabetes of the young type 7 (IAGP)

type 2 diabetes mellitus (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(S)-nicotine (EXP)

1,2-dimethylhydrazine (ISO)

17beta-estradiol (EXP)

2,2',4,4',5,5'-hexachlorobiphenyl (ISO)

2,2',5,5'-tetrachlorobiphenyl (ISO)

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

2-hydroxypropanoic acid (EXP)

2-methylcholine (EXP)

2-naphthylamine (EXP)

3,4-methylenedioxymethamphetamine (ISO)

3-isobutyl-1-methyl-7H-xanthine (EXP)

4,4'-sulfonyldiphenol (EXP)

6-propyl-2-thiouracil (ISO)

acrylamide (ISO)

aflatoxin B1 (EXP)

amphetamine (ISO)

arsenite(3-) (EXP)

arsenous acid (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (ISO)

C60 fullerene (ISO)

calcitriol (EXP)

CGP 52608 (EXP)

choline (ISO)

cisplatin (EXP)

copper(II) sulfate (EXP)

cyclosporin A (EXP)

decabromodiphenyl ether (ISO)

dexamethasone (EXP)

diarsenic trioxide (EXP)

dichloroacetic acid (ISO)

dioxygen (EXP)

dorsomorphin (EXP)

doxorubicin (EXP)

epoxiconazole (ISO)

fenofibrate (EXP)

folic acid (ISO)

genistein (ISO)

gentamycin (ISO)

geraniol (EXP)

indometacin (EXP)

L-methionine (ISO)

leflunomide (EXP)

menadione (EXP)

mercury dibromide (EXP)

mono(2-ethylhexyl) phthalate (ISO)

Monobutylphthalate (ISO)

nickel sulfate (EXP)

nicotine (EXP)

ozone (ISO)

paracetamol (EXP,ISO)

PCB138 (ISO)

perfluorononanoic acid (EXP)

perfluorooctane-1-sulfonic acid (EXP)

perfluorooctanoic acid (EXP)

phenobarbital (EXP,ISO)

phenylmercury acetate (EXP)

pirinixic acid (EXP,ISO)

potassium chromate (EXP)

propionic acid (EXP)

rac-lactic acid (EXP)

resveratrol (EXP)

SB 431542 (EXP)

silicon dioxide (EXP)

sodium arsenate (ISO)

sunitinib (EXP)

testosterone (EXP)

tetrachloroethene (ISO)

tetrachloromethane (ISO)

thioacetamide (ISO)

titanium dioxide (ISO)

topotecan (ISO)

triphenyl phosphate (ISO)

troglitazone (ISO)

trovafloxacin (ISO)

tunicamycin (EXP)

urethane (EXP)

valproic acid (EXP)

vanadium atom (EXP)

vanadium(0) (EXP)

vorinostat (EXP)

zinc atom (EXP)

zinc(0) (EXP)

zoledronic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

apoptotic process (IEA)

cellular response to peptide (IEA,ISO)

hemopoiesis (ISO)

negative regulation of cell population proliferation (IDA,TAS)

negative regulation of DNA-templated transcription (IEA)

negative regulation of transcription by RNA polymerase II (IDA,TAS)

positive regulation of apoptotic process (IDA)

regulation of transcription by RNA polymerase II (IBA)

regulation of transcription involved in G1/S transition of mitotic cell cycle (IDA)

Cellular Component

chromatin (ISA)

cytosol (IDA)

focal adhesion (IDA)

nuclear body (IDA)

nucleoplasm (IDA)

nucleus (IEA,TAS)

nucleus (TAS)

Molecular Function

DNA binding (IEA)

DNA-binding transcription factor activity (IEA,TAS)

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

metal ion binding (IEA)

protein binding (IPI)

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

sequence-specific double-stranded DNA binding (IDA)

transcription cis-regulatory region binding (IDA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal circulating C-peptide concentration (IAGP)

Abnormal oral glucose tolerance (IAGP)

Autosomal dominant inheritance (IAGP)

Diabetes mellitus (IAGP)

Elevated hemoglobin A1c (IAGP)

Exocrine pancreatic insufficiency (IAGP)

Glycosuria (IAGP)

Hepatocellular adenoma (IAGP)

Hyperglycemia (IAGP)

Hyperinsulinemic hypoglycemia (IAGP)

Hypoinsulinemia (IAGP)

Intrauterine growth retardation (IAGP)

Large for gestational age (IAGP)

Maturity-onset diabetes of the young (IAGP)

Neonatal hypoglycemia (IAGP)

Nephropathy (IAGP)

Obesity (IAGP)

Overweight (IAGP)

Pancreatic hypoplasia (IAGP)

Renal cyst (IAGP)

Retinopathy (IAGP)

Transient neonatal diabetes mellitus (IAGP)

Type II diabetes mellitus (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Genetic analysis of Kruppel-like zinc finger 11 variants in 5864 Danish individuals: potential effect on insulin resistance and modified signal transducer and activator of transcription-3 binding by promoter variant -1659G>C.	Gutierrez-Aguilar R, etal., J Clin Endocrinol Metab. 2008 Aug;93(8):3128-35. Epub 2008 May 27.
2.	Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function.	Neve B, etal., Proc Natl Acad Sci U S A. 2005 Mar 29;102(13):4807-12. Epub 2005 Mar 17.
3.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
4.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
6.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

Additional References at PubMed

PMID:9748269	PMID:10207080	PMID:11087666	PMID:11438660	PMID:11827452	PMID:12006497	PMID:12477932	PMID:14702039	PMID:15024015	PMID:15300592	PMID:15489334	PMID:15531587
PMID:16713569	PMID:17114344	PMID:17130512	PMID:17252542	PMID:17308981	PMID:17479246	PMID:17500595	PMID:18199129	PMID:18593768	PMID:19122346	PMID:19124506	PMID:19274049
PMID:19322201	PMID:19843526	PMID:20002157	PMID:20124487	PMID:20154088	PMID:20709022	PMID:21171965	PMID:21592955	PMID:21873635	PMID:21988832	PMID:22318730	PMID:22375010
PMID:22628545	PMID:22801105	PMID:22930747	PMID:23042817	PMID:23535732	PMID:23555910	PMID:23589285	PMID:23915421	PMID:24060634	PMID:24069400	PMID:24885560	PMID:25076120
PMID:25416956	PMID:25502632	PMID:25504365	PMID:25931269	PMID:26935598	PMID:28473536	PMID:28938437	PMID:29792621	PMID:29923255	PMID:30509092	PMID:30602303	PMID:31124255
PMID:31980649	PMID:32296183	PMID:32451988	PMID:32524199	PMID:32633337	PMID:32814053	PMID:33507881	PMID:33571129	PMID:33604390	PMID:34428834	PMID:35108381	PMID:35293659
PMID:35689450	PMID:36176648	PMID:36176668	PMID:36241199

Genomics

Comparative Map Data

KLF11
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	2	10,043,550 - 10,054,836 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	2	10,042,849 - 10,054,836 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	10,183,677 - 10,194,963 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	10,101,133 - 10,112,414 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	2	10,100,586 - 10,111,182 (+)	NCBI		Celera
Cytogenetic Map	2	p25.1	NCBI
HuRef	2	10,036,117 - 10,046,713 (+)	NCBI		HuRef
CHM1_1	2	10,113,564 - 10,124,797 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	2	10,072,326 - 10,083,576 (+)	NCBI		T2T-CHM13v2.0

Klf11
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	12	24,701,370 - 24,712,781 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	12	24,701,273 - 24,712,788 (+)	Ensembl		GRCm39 Ensembl
GRCm38	12	24,651,371 - 24,662,782 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	12	24,651,274 - 24,662,789 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	12	25,336,236 - 25,347,647 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	12	25,240,353 - 25,251,754 (+)	NCBI		MGSCv36	mm8
Celera	12	26,112,243 - 26,123,694 (+)	NCBI		Celera
Cytogenetic Map	12	A1.3	NCBI
cM Map	12	8.49	NCBI

Klf11
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	6	41,285,699 - 41,297,548 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	6	41,285,842 - 41,297,550 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	6	41,608,755 - 41,620,386 (+)	NCBI	Rnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0	6	41,923,562 - 41,935,193 (+)	NCBI	Rnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0	6	41,356,708 - 41,368,339 (+)	NCBI	Rnor_WKY
Rnor_6.0	6	43,829,812 - 43,841,649 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	6	43,829,945 - 43,841,651 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	6	60,701,310 - 60,724,151 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	6	42,296,221 - 42,307,925 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	6	42,283,152 - 42,309,011 (+)	NCBI
Celera	6	40,573,522 - 40,585,226 (+)	NCBI		Celera
Cytogenetic Map	6	q16	NCBI

Klf11
(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_004955487	5,448,869 - 5,454,322 (+)	NCBI	ChiLan1.0	ChiLan1.0

KLF11
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	2A	10,185,034 - 10,208,220 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	2A	10,195,564 - 10,208,220 (+)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	2A	10,027,152 - 10,051,445 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3

KLF11
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	17	7,038,282 - 7,049,880 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	17	7,010,313 - 7,049,426 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	17	6,965,333 - 6,976,823 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	17	7,136,573 - 7,148,112 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	17	7,139,227 - 7,145,865 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	17	7,028,519 - 7,040,002 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	17	7,030,745 - 7,042,292 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	17	7,044,796 - 7,056,291 (+)	NCBI		UU_Cfam_GSD_1.0

Klf11
(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_024406292	51,526,321 - 51,534,846 (+)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936532	6,282,313 - 6,290,569 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

KLF11
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	3	126,418,996 - 126,429,897 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	3	126,419,011 - 126,429,890 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

KLF11
(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	14	97,574,930 - 97,586,398 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	14	97,573,555 - 97,586,256 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666045	14,725,977 - 14,737,662 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Klf11
(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 1.0	NW_004624865	5,023,074 - 5,031,347 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in KLF11
146 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_003597.5(KLF11):c.1039G>T (p.Ala347Ser)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000006871]\|not provided [RCV002512855]	Chr2:10048376 [GRCh38] Chr2:10188503 [GRCh37] Chr2:2p25.1	pathogenic\|likely benign\|uncertain significance
NM_003597.5(KLF11):c.659C>T (p.Thr220Met)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000006872]\|Monogenic diabetes [RCV000445442]\|not provided [RCV000429958]\|not specified [RCV000247830]	Chr2:10047996 [GRCh38] Chr2:10188123 [GRCh37] Chr2:2p25.1	pathogenic\|benign\|likely benign
GRCh38/hg38 2p25.3-24.3(chr2:30141-14494040)x3	copy number gain	See cases [RCV000052928]	Chr2:30141..14494040 [GRCh38] Chr2:30141..14634164 [GRCh37] Chr2:20141..14551615 [NCBI36] Chr2:2p25.3-24.3	pathogenic
GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3	copy number gain	See cases [RCV000052929]	Chr2:30141..31766749 [GRCh38] Chr2:30141..31991818 [GRCh37] Chr2:20141..31845322 [NCBI36] Chr2:2p25.3-23.1	pathogenic
GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	copy number gain	See cases [RCV000052931]	Chr2:30342..14866951 [GRCh38] Chr2:30342..15007075 [GRCh37] Chr2:20342..14924526 [NCBI36] Chr2:2p25.3-24.3	pathogenic
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	copy number gain	See cases [RCV000052933]	Chr2:66097..55570637 [GRCh38] Chr2:66097..55797773 [GRCh37] Chr2:56097..55651277 [NCBI36] Chr2:2p25.3-16.1	pathogenic
GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1	copy number loss	See cases [RCV000053978]	Chr2:6531172..16103799 [GRCh38] Chr2:6671304..16243921 [GRCh37] Chr2:6588755..16161372 [NCBI36] Chr2:2p25.2-24.3	pathogenic
NM_003597.4(KLF11):c.856C>T (p.Leu286Phe)	single nucleotide variant	Malignant melanoma [RCV000064981]	Chr2:10048193 [GRCh38] Chr2:10188320 [GRCh37] Chr2:10105771 [NCBI36] Chr2:2p25.1	not provided
NM_003597.5(KLF11):c.410A>G (p.Asp137Gly)	single nucleotide variant	Monogenic diabetes [RCV000664078]\|not provided [RCV000881038]\|not specified [RCV000117437]	Chr2:10047747 [GRCh38] Chr2:10187874 [GRCh37] Chr2:2p25.1	benign\|likely benign
NM_003597.5(KLF11):c.467G>T (p.Gly156Val)	single nucleotide variant	not provided [RCV000117439]	Chr2:10047804 [GRCh38] Chr2:10187931 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.185A>G (p.Gln62Arg)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000321050]\|Type 2 diabetes mellitus [RCV002250563]\|not provided [RCV001668243]\|not specified [RCV000117438]	Chr2:10046292 [GRCh38] Chr2:10186419 [GRCh37] Chr2:2p25.1	likely risk allele\|benign\|likely benign\|conflicting interpretations of pathogenicity
NM_003597.5(KLF11):c.929C>T (p.Ser310Phe)	single nucleotide variant	not provided [RCV002293007]	Chr2:10048266 [GRCh38] Chr2:10188393 [GRCh37] Chr2:2p25.1	likely benign
GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	copy number gain	See cases [RCV000135398]	Chr2:30341..28419664 [GRCh38] Chr2:30341..28642531 [GRCh37] Chr2:20341..28496035 [NCBI36] Chr2:2p25.3-23.2	pathogenic
GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	copy number gain	See cases [RCV000137344]	Chr2:17019..26318846 [GRCh38] Chr2:17019..26541714 [GRCh37] Chr2:7019..26395218 [NCBI36] Chr2:2p25.3-23.3	pathogenic
GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	copy number gain	See cases [RCV000137913]	Chr2:1664615..23664142 [GRCh38] Chr2:1668387..23887012 [GRCh37] Chr2:1647394..23740517 [NCBI36] Chr2:2p25.3-24.1	pathogenic\|likely pathogenic
GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	copy number gain	See cases [RCV000141226]	Chr2:17019..20001056 [GRCh38] Chr2:17019..20200817 [GRCh37] Chr2:7019..20064298 [NCBI36] Chr2:2p25.3-24.1	pathogenic
GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	copy number gain	See cases [RCV000141877]	Chr2:12770..25039694 [GRCh38] Chr2:12770..25262563 [GRCh37] Chr2:2770..25116067 [NCBI36] Chr2:2p25.3-23.3	pathogenic
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	copy number gain	See cases [RCV000141829]	Chr2:12770..33711509 [GRCh38] Chr2:12770..33936576 [GRCh37] Chr2:2770..33790080 [NCBI36] Chr2:2p25.3-22.3	pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	copy number gain	See cases [RCV000141494]	Chr2:7495123..87705899 [GRCh38] Chr2:7635254..88005418 [GRCh37] Chr2:7552705..87786533 [NCBI36] Chr2:2p25.1-11.2	benign
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	copy number gain	See cases [RCV000143682]	Chr2:236816..45983232 [GRCh38] Chr2:236816..46210371 [GRCh37] Chr2:226816..46063875 [NCBI36] Chr2:2p25.3-21	pathogenic
NM_003597.5(KLF11):c.1102C>T (p.Pro368Ser)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000407600]	Chr2:10048439 [GRCh38] Chr2:10188566 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.679A>G (p.Asn227Asp)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000293457]	Chr2:10048016 [GRCh38] Chr2:10188143 [GRCh37] Chr2:2p25.1	likely benign\|uncertain significance
NM_003597.5(KLF11):c.429C>T (p.Ala143=)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000294839]\|not provided [RCV000946592]\|not specified [RCV001553588]	Chr2:10047766 [GRCh38] Chr2:10187893 [GRCh37] Chr2:2p25.1	benign\|likely benign
NM_003597.5(KLF11):c.1137C>G (p.Ser379Arg)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000299545]\|not provided [RCV002057557]	Chr2:10048474 [GRCh38] Chr2:10188601 [GRCh37] Chr2:2p25.1	likely benign\|uncertain significance
NM_003597.5(KLF11):c.266C>T (p.Ala89Val)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000262445]	Chr2:10046373 [GRCh38] Chr2:10186500 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.928T>C (p.Ser310Pro)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000287486]	Chr2:10048265 [GRCh38] Chr2:10188392 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.86G>A (p.Arg29Gln)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000268105]\|Monogenic diabetes [RCV000445417]\|not provided [RCV001514109]	Chr2:10046193 [GRCh38] Chr2:10186320 [GRCh37] Chr2:2p25.1	benign\|likely benign
NM_003597.5(KLF11):c.1448C>T (p.Pro483Leu)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000259648]	Chr2:10052416 [GRCh38] Chr2:10192543 [GRCh37] Chr2:2p25.1	benign\|uncertain significance
NM_003597.5(KLF11):c.782C>T (p.Pro261Leu)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000384196]\|Monogenic diabetes [RCV000664079]\|not provided [RCV001850772]\|not specified [RCV000500248]	Chr2:10048119 [GRCh38] Chr2:10188246 [GRCh37] Chr2:2p25.1	benign\|likely benign
NM_003597.5(KLF11):c.313-207C>G	single nucleotide variant	not provided [RCV001766051]	Chr2:10047443 [GRCh38] Chr2:10187570 [GRCh37] Chr2:2p25.1	likely benign
NM_003597.5(KLF11):c.358A>G (p.Arg120Gly)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000372911]	Chr2:10047695 [GRCh38] Chr2:10187822 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.305C>G (p.Ser102Trp)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000319853]	Chr2:10046412 [GRCh38] Chr2:10186539 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.259A>G (p.Met87Val)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000359484]	Chr2:10046366 [GRCh38] Chr2:10186493 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.486A>G (p.Pro162=)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000333478]\|not provided [RCV002285316]	Chr2:10047823 [GRCh38] Chr2:10187950 [GRCh37] Chr2:2p25.1	likely benign\|uncertain significance
NM_003597.5(KLF11):c.994C>T (p.Pro332Ser)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000345253]	Chr2:10048331 [GRCh38] Chr2:10188458 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.1077G>A (p.Met359Ile)	single nucleotide variant	Diabetes mellitus [RCV001172531]\|Maturity-onset diabetes of the young type 7 [RCV000339444]\|not provided [RCV001850773]	Chr2:10048414 [GRCh38] Chr2:10188541 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.689C>T (p.Ser230Phe)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000345993]	Chr2:10048026 [GRCh38] Chr2:10188153 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.1169G>A (p.Arg390Gln)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000356724]	Chr2:10048506 [GRCh38] Chr2:10188633 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.*241A>G	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000286414]\|not provided [RCV001764300]	Chr2:10052748 [GRCh38] Chr2:10192875 [GRCh37] Chr2:2p25.1	benign\|likely benign
NM_003597.5(KLF11):c.*1558T>C	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000280015]	Chr2:10054065 [GRCh38] Chr2:10194192 [GRCh37] Chr2:2p25.1	benign
NM_003597.5(KLF11):c.-9G>A	single nucleotide variant	not specified [RCV000251238]	Chr2:10043708 [GRCh38] Chr2:10183835 [GRCh37] Chr2:2p25.1	likely benign
NM_003597.5(KLF11):c.*194G>A	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000271753]\|not provided [RCV001764299]	Chr2:10052701 [GRCh38] Chr2:10192828 [GRCh37] Chr2:2p25.1	benign\|likely benign
NM_003597.5(KLF11):c.*956C>T	single nucleotide variant	Maturity onset diabetes mellitus in young [RCV000276813]	Chr2:10053463 [GRCh38] Chr2:10193590 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.*131G>A	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000277448]	Chr2:10052638 [GRCh38] Chr2:10192765 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.*1608T>G	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000316357]	Chr2:10054115 [GRCh38] Chr2:10194242 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.*544C>A	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000401814]	Chr2:10053051 [GRCh38] Chr2:10193178 [GRCh37] Chr2:2p25.1	benign\|likely benign
NM_003597.5(KLF11):c.*2274G>A	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000303198]	Chr2:10054781 [GRCh38] Chr2:10194908 [GRCh37] Chr2:2p25.1	likely benign\|uncertain significance
NM_003597.5(KLF11):c.*674G>C	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000337831]	Chr2:10053181 [GRCh38] Chr2:10193308 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.*235T>C	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000380470]\|not provided [RCV001753792]	Chr2:10052742 [GRCh38] Chr2:10192869 [GRCh37] Chr2:2p25.1	benign\|likely benign
NM_003597.5(KLF11):c.226_227dup	duplication	Maturity onset diabetes mellitus in young [RCV000289498]\|not provided [RCV001597094]	Chr2:10052724..10052725 [GRCh38] Chr2:10192851..10192852 [GRCh37] Chr2:2p25.1	benign
NM_003597.5(KLF11):c.*435A>T	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000341368]	Chr2:10052942 [GRCh38] Chr2:10193069 [GRCh37] Chr2:2p25.1	benign\|likely benign
NM_003597.5(KLF11):c.*2144C>T	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000306354]	Chr2:10054651 [GRCh38] Chr2:10194778 [GRCh37] Chr2:2p25.1	benign\|likely benign
NM_003597.5(KLF11):c.*217G>T	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000342177]	Chr2:10052724 [GRCh38] Chr2:10192851 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.*982G>A	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000363011]	Chr2:10053489 [GRCh38] Chr2:10193616 [GRCh37] Chr2:2p25.1	likely benign\|uncertain significance
NM_003597.5(KLF11):c.*1423T>C	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000324342]	Chr2:10053930 [GRCh38] Chr2:10194057 [GRCh37] Chr2:2p25.1	benign\|likely benign
NM_003597.5(KLF11):c.*192T>C	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000387231]	Chr2:10052699 [GRCh38] Chr2:10192826 [GRCh37] Chr2:2p25.1	benign\|uncertain significance
NM_003597.5(KLF11):c.*980T>C	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000308312]	Chr2:10053487 [GRCh38] Chr2:10193614 [GRCh37] Chr2:2p25.1	benign\|likely benign
NM_003597.5(KLF11):c.*2265T>A	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000365585]	Chr2:10054772 [GRCh38] Chr2:10194899 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.*1853T>C	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000390306]	Chr2:10054360 [GRCh38] Chr2:10194487 [GRCh37] Chr2:2p25.1	benign
NM_003597.5(KLF11):c.*1894A>G	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000295844]	Chr2:10054401 [GRCh38] Chr2:10194528 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.*107G>A	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000369758]	Chr2:10052614 [GRCh38] Chr2:10192741 [GRCh37] Chr2:2p25.1	benign\|likely benign
NM_003597.5(KLF11):c.*2273C>T	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000392577]	Chr2:10054780 [GRCh38] Chr2:10194907 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.*612C>T	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000296835]	Chr2:10053119 [GRCh38] Chr2:10193246 [GRCh37] Chr2:2p25.1	benign\|likely benign
NM_003597.5(KLF11):c.*882G>A	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000311923]	Chr2:10053389 [GRCh38] Chr2:10193516 [GRCh37] Chr2:2p25.1	benign\|likely benign
NM_003597.5(KLF11):c.*166C>T	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000330206]	Chr2:10052673 [GRCh38] Chr2:10192800 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.*1781T>C	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000349725]	Chr2:10054288 [GRCh38] Chr2:10194415 [GRCh37] Chr2:2p25.1	benign\|likely benign
NM_003597.5(KLF11):c.*2026G>C	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000350730]	Chr2:10054533 [GRCh38] Chr2:10194660 [GRCh37] Chr2:2p25.1	benign\|likely benign
NM_003597.5(KLF11):c.*1636C>T	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000281209]	Chr2:10054143 [GRCh38] Chr2:10194270 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.*1155G>A	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000273251]	Chr2:10053662 [GRCh38] Chr2:10193789 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.*1386A>G	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000264641]	Chr2:10053893 [GRCh38] Chr2:10194020 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.*227dup	duplication	Maturity onset diabetes mellitus in young [RCV000381505]\|not provided [RCV001707655]	Chr2:10052724..10052725 [GRCh38] Chr2:10192851..10192852 [GRCh37] Chr2:2p25.1	benign\|likely benign
NM_003597.5(KLF11):c.216_217insTT	insertion	Maturity onset diabetes mellitus in young [RCV000329270]	Chr2:10052723..10052724 [GRCh38] Chr2:10192850..10192851 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.1046C>T (p.Pro349Leu)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000400205]	Chr2:10048383 [GRCh38] Chr2:10188510 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.-146C>T	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000400988]	Chr2:10043571 [GRCh38] Chr2:10183698 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.*2081C>T	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000402110]	Chr2:10054588 [GRCh38] Chr2:10194715 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.1057C>A (p.Pro353Thr)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000305609]	Chr2:10048394 [GRCh38] Chr2:10188521 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.-95GCC[5]	microsatellite	Maturity onset diabetes mellitus in young [RCV000366591]\|not provided [RCV001712118]	Chr2:10043622..10043624 [GRCh38] Chr2:10183749..10183751 [GRCh37] Chr2:2p25.1	benign
NM_003597.5(KLF11):c.-95GCC[7]	microsatellite	Maturity onset diabetes mellitus in young [RCV000406855]\|not provided [RCV002221527]	Chr2:10043621..10043622 [GRCh38] Chr2:10183748..10183749 [GRCh37] Chr2:2p25.1	likely benign\|uncertain significance
NM_003597.5(KLF11):c.-31G>A	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000308079]	Chr2:10043686 [GRCh38] Chr2:10183813 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.*954C>G	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000371385]	Chr2:10053461 [GRCh38] Chr2:10193588 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.-104C>T	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000309523]	Chr2:10043613 [GRCh38] Chr2:10183740 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.*756C>T	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000391512]	Chr2:10053263 [GRCh38] Chr2:10193390 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.*96dup	duplication	Maturity onset diabetes mellitus in young [RCV000298714]	Chr2:10052595..10052596 [GRCh38] Chr2:10192722..10192723 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.*1612C>G	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000375726]	Chr2:10054119 [GRCh38] Chr2:10194246 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.*1301C>G	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000377927]	Chr2:10053808 [GRCh38] Chr2:10193935 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.*1296T>C	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000328308]	Chr2:10053803 [GRCh38] Chr2:10193930 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.18C>T (p.Phe6=)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000360429]	Chr2:10043734 [GRCh38] Chr2:10183861 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.*1495G>A	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV000378994]	Chr2:10054002 [GRCh38] Chr2:10194129 [GRCh37] Chr2:2p25.1	uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3	copy number gain	not provided [RCV000752802]	Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
NM_003597.5(KLF11):c.608_609delinsAG (p.Gly203Glu)	indel	Monogenic diabetes [RCV000445371]	Chr2:10047945..10047946 [GRCh38] Chr2:10188072..10188073 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.1205G>A (p.Arg402Gln)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001134909]\|Monogenic diabetes [RCV000445374]	Chr2:10048542 [GRCh38] Chr2:10188669 [GRCh37] Chr2:2p25.1	benign\|likely benign
NM_003597.5(KLF11):c.541G>A (p.Glu181Lys)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV002502592]\|Monogenic diabetes [RCV000445489]\|not provided [RCV002063658]\|not specified [RCV001821212]	Chr2:10047878 [GRCh38] Chr2:10188005 [GRCh37] Chr2:2p25.1	likely benign
NM_003597.5(KLF11):c.953T>G (p.Leu318Arg)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001133425]\|Monogenic diabetes [RCV000445493]	Chr2:10048290 [GRCh38] Chr2:10188417 [GRCh37] Chr2:2p25.1	likely benign\|uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	copy number gain	See cases [RCV000512056]	Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
NM_003597.5(KLF11):c.871C>T (p.Pro291Ser)	single nucleotide variant	not specified [RCV000503793]	Chr2:10048208 [GRCh38] Chr2:10188335 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.22G>C (p.Gly8Arg)	single nucleotide variant	not specified [RCV000502339]	Chr2:10043738 [GRCh38] Chr2:10183865 [GRCh37] Chr2:2p25.1	uncertain significance
GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3	copy number gain	See cases [RCV000510934]	Chr2:12770..20081474 [GRCh37] Chr2:2p25.3-24.1	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	copy number gain	See cases [RCV000511212]	Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
NM_003597.5(KLF11):c.23G>A (p.Gly8Asp)	single nucleotide variant	Maturity onset diabetes mellitus in young [RCV000626848]	Chr2:10043739 [GRCh38] Chr2:10183866 [GRCh37] Chr2:2p25.1	uncertain significance
GRCh37/hg19 2p25.1(chr2:10192688-10462223)x3	copy number gain	not provided [RCV000682048]	Chr2:10192688..10462223 [GRCh37] Chr2:2p25.1	uncertain significance
GRCh37/hg19 2p25.1(chr2:10192850-10469516)x3	copy number gain	not provided [RCV000752843]	Chr2:10192850..10469516 [GRCh37] Chr2:2p25.1	benign
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3	copy number gain	not provided [RCV000752804]	Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
NM_003597.5(KLF11):c.42+264G>T	single nucleotide variant	not provided [RCV001648526]	Chr2:10044022 [GRCh38] Chr2:10184149 [GRCh37] Chr2:2p25.1	benign
NM_003597.5(KLF11):c.1258+334_1258+335del	deletion	not provided [RCV001667646]	Chr2:10048909..10048910 [GRCh38] Chr2:10189036..10189037 [GRCh37] Chr2:2p25.1	benign
NM_003597.5(KLF11):c.870C>T (p.Ile290=)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001132500]	Chr2:10048207 [GRCh38] Chr2:10188334 [GRCh37] Chr2:2p25.1	likely benign
NM_003597.5(KLF11):c.1259-2_1259-1del	deletion	Maturity-onset diabetes of the young type 7 [RCV000778556]\|not provided [RCV002536734]	Chr2:10052225..10052226 [GRCh38] Chr2:10192352..10192353 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.1185= (p.Val395=)	variation	not provided [RCV000949478]	Chr2:10048522 [GRCh38] Chr2:10188649 [GRCh37] Chr2:2p25.1	benign
NM_003597.5(KLF11):c.961G>C (p.Ala321Pro)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001133426]	Chr2:10048298 [GRCh38] Chr2:10188425 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.926T>C (p.Leu309Ser)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001132501]	Chr2:10048263 [GRCh38] Chr2:10188390 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.-76G>A	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001133322]	Chr2:10043641 [GRCh38] Chr2:10183768 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.1161C>T (p.Asp387=)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001134908]\|not specified [RCV001819838]	Chr2:10048498 [GRCh38] Chr2:10188625 [GRCh37] Chr2:2p25.1	likely benign
NM_003597.5(KLF11):c.-108G>A	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001133320]	Chr2:10043609 [GRCh38] Chr2:10183736 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.*738A>G	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001133548]	Chr2:10053245 [GRCh38] Chr2:10193372 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.546C>A (p.Ser182Arg)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001129810]\|not provided [RCV001873521]	Chr2:10047883 [GRCh38] Chr2:10188010 [GRCh37] Chr2:2p25.1	likely benign\|uncertain significance
NM_003597.5(KLF11):c.1503G>A (p.Pro501=)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001129893]\|not provided [RCV002556828]	Chr2:10052471 [GRCh38] Chr2:10192598 [GRCh37] Chr2:2p25.1	likely benign
NM_003597.5(KLF11):c.*1320G>A	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001130008]	Chr2:10053827 [GRCh38] Chr2:10193954 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.*262C>T	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001130599]	Chr2:10052769 [GRCh38] Chr2:10192896 [GRCh37] Chr2:2p25.1	benign
NM_003597.5(KLF11):c.*654C>T	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001133547]	Chr2:10053161 [GRCh38] Chr2:10193288 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.*2103G>A	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001133682]	Chr2:10054610 [GRCh38] Chr2:10194737 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.*981G>A	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001135037]	Chr2:10053488 [GRCh38] Chr2:10193615 [GRCh37] Chr2:2p25.1	benign
NM_003597.5(KLF11):c.1258+333_1258+335del	deletion	not provided [RCV001665052]	Chr2:10048909..10048911 [GRCh38] Chr2:10189036..10189038 [GRCh37] Chr2:2p25.1	benign
Single allele	duplication	not provided [RCV001667611]	Chr2:10043427..10043428 [GRCh38] Chr2:10183554..10183555 [GRCh37] Chr2:2p25.1	benign
NM_003597.5(KLF11):c.1396A>G (p.Ser466Gly)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001129890]	Chr2:10052364 [GRCh38] Chr2:10192491 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.673A>C (p.Ser225Arg)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001132499]\|not specified [RCV001819837]	Chr2:10048010 [GRCh38] Chr2:10188137 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.-159G>A	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001133319]	Chr2:10043558 [GRCh38] Chr2:10183685 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.1049C>T (p.Pro350Leu)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001133427]	Chr2:10048386 [GRCh38] Chr2:10188513 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.1304T>A (p.Phe435Tyr)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001134910]\|not provided [RCV002070576]	Chr2:10052272 [GRCh38] Chr2:10192399 [GRCh37] Chr2:2p25.1	likely benign\|uncertain significance
GRCh37/hg19 2p25.1(chr2:10192689-10462223)x3	copy number gain	not provided [RCV002472818]	Chr2:10192689..10462223 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.1486G>A (p.Ala496Thr)	single nucleotide variant	Inborn genetic diseases [RCV002556827]\|Maturity-onset diabetes of the young type 7 [RCV001129892]	Chr2:10052454 [GRCh38] Chr2:10192581 [GRCh37] Chr2:2p25.1	likely benign\|uncertain significance
NM_003597.5(KLF11):c.431T>C (p.Val144Ala)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001129808]	Chr2:10047768 [GRCh38] Chr2:10187895 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.*319C>T	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001130600]	Chr2:10052826 [GRCh38] Chr2:10192953 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.1258+335dup	duplication	not provided [RCV001648193]	Chr2:10048908..10048909 [GRCh38] Chr2:10189035..10189036 [GRCh37] Chr2:2p25.1	benign
NM_003597.5(KLF11):c.608G>A (p.Gly203Glu)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001129811]\|not provided [RCV001873522]	Chr2:10047945 [GRCh38] Chr2:10188072 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.*122C>T	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001129894]	Chr2:10052629 [GRCh38] Chr2:10192756 [GRCh37] Chr2:2p25.1	likely benign
NM_003597.5(KLF11):c.*1463A>G	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001130009]	Chr2:10053970 [GRCh38] Chr2:10194097 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.*1725G>C	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001130723]	Chr2:10054232 [GRCh38] Chr2:10194359 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.313-244G>C	single nucleotide variant	not provided [RCV001691886]	Chr2:10047406 [GRCh38] Chr2:10187533 [GRCh37] Chr2:2p25.1	benign
NM_003597.5(KLF11):c.25C>T (p.Pro9Ser)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001134794]	Chr2:10043741 [GRCh38] Chr2:10183868 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.351A>G (p.Pro117=)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001134795]	Chr2:10047688 [GRCh38] Chr2:10187815 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.501C>T (p.Pro167=)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001129809]	Chr2:10047838 [GRCh38] Chr2:10187965 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.*1658G>A	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001130722]	Chr2:10054165 [GRCh38] Chr2:10194292 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.-83G>A	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001133321]	Chr2:10043634 [GRCh38] Chr2:10183761 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.*1990T>C	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001133681]	Chr2:10054497 [GRCh38] Chr2:10194624 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.*457A>T	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001133546]	Chr2:10052964 [GRCh38] Chr2:10193091 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.1130C>T (p.Thr377Ile)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001134907]\|not provided [RCV001856725]	Chr2:10048467 [GRCh38] Chr2:10188594 [GRCh37] Chr2:2p25.1	likely benign\|uncertain significance
NM_003597.5(KLF11):c.644A>G (p.Gln215Arg)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001129812]	Chr2:10047981 [GRCh38] Chr2:10188108 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.1450G>A (p.Gly484Ser)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV001129891]	Chr2:10052418 [GRCh38] Chr2:10192545 [GRCh37] Chr2:2p25.1	benign
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	copy number gain	Mosaic trisomy 2 [RCV002280628]	Chr2:1..243199373 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
NM_003597.5(KLF11):c.1259-312C>T	single nucleotide variant	not provided [RCV001641722]	Chr2:10051915 [GRCh38] Chr2:10192042 [GRCh37] Chr2:2p25.1	benign
NM_003597.5(KLF11):c.1258+335del	deletion	not provided [RCV001643244]	Chr2:10048909 [GRCh38] Chr2:10189036 [GRCh37] Chr2:2p25.1	benign
NM_003597.5(KLF11):c.1246C>T (p.Arg416Cys)	single nucleotide variant	not provided [RCV001355687]	Chr2:10048583 [GRCh38] Chr2:10188710 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.1185A>T (p.Val395=)	single nucleotide variant	not provided [RCV001521689]	Chr2:10048522 [GRCh38] Chr2:10188649 [GRCh37] Chr2:2p25.1	benign
NM_003597.5(KLF11):c.42+85A>G	single nucleotide variant	not provided [RCV001613961]	Chr2:10043843 [GRCh38] Chr2:10183970 [GRCh37] Chr2:2p25.1	benign
NM_003597.5(KLF11):c.225_227dup	duplication	not provided [RCV001768129]	Chr2:10052724..10052725 [GRCh38] Chr2:10192851..10192852 [GRCh37] Chr2:2p25.1	likely benign
NM_003597.5(KLF11):c.-157C>T	single nucleotide variant	not provided [RCV001769903]	Chr2:10043560 [GRCh38] Chr2:10183687 [GRCh37] Chr2:2p25.1	likely benign
NM_003597.5(KLF11):c.42+310C>T	single nucleotide variant	not provided [RCV001774924]	Chr2:10044068 [GRCh38] Chr2:10184195 [GRCh37] Chr2:2p25.1	likely benign
NM_003597.5(KLF11):c.*43C>T	single nucleotide variant	not provided [RCV001759280]	Chr2:10052550 [GRCh38] Chr2:10192677 [GRCh37] Chr2:2p25.1	likely benign
NM_003597.5(KLF11):c.313-266T>C	single nucleotide variant	not provided [RCV001768096]	Chr2:10047384 [GRCh38] Chr2:10187511 [GRCh37] Chr2:2p25.1	likely benign
Single allele	single nucleotide variant	not provided [RCV001769876]	Chr2:10043500 [GRCh38] Chr2:10183627 [GRCh37] Chr2:2p25.1	likely benign
Single allele	single nucleotide variant	not provided [RCV001757667]	Chr2:10043421 [GRCh38] Chr2:10183548 [GRCh37] Chr2:2p25.1	likely benign
NM_003597.5(KLF11):c.*218T>G	single nucleotide variant	not provided [RCV001759263]	Chr2:10052725 [GRCh38] Chr2:10192852 [GRCh37] Chr2:2p25.1	likely benign
NM_003597.5(KLF11):c.33C>T (p.Asp11=)	single nucleotide variant	not provided [RCV002541984]\|not specified [RCV001817295]	Chr2:10043749 [GRCh38] Chr2:10183876 [GRCh37] Chr2:2p25.1	likely benign
NM_003597.5(KLF11):c.225C>T (p.Val75=)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV002503245]\|not provided [RCV001757764]	Chr2:10046332 [GRCh38] Chr2:10186459 [GRCh37] Chr2:2p25.1	likely benign
NM_003597.5(KLF11):c.333C>T (p.Ser111=)	single nucleotide variant	not specified [RCV001817583]	Chr2:10047670 [GRCh38] Chr2:10187797 [GRCh37] Chr2:2p25.1	likely benign
NM_003597.5(KLF11):c.1396A>T (p.Ser466Cys)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV002482360]\|not specified [RCV001819319]	Chr2:10052364 [GRCh38] Chr2:10192491 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.24C>G (p.Gly8=)	single nucleotide variant	not specified [RCV001819641]	Chr2:10043740 [GRCh38] Chr2:10183867 [GRCh37] Chr2:2p25.1	likely benign
NM_003597.5(KLF11):c.811A>C (p.Lys271Gln)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV002503317]\|not specified [RCV001820235]	Chr2:10048148 [GRCh38] Chr2:10188275 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.1054G>A (p.Ala352Thr)	single nucleotide variant	not provided [RCV002023194]	Chr2:10048391 [GRCh38] Chr2:10188518 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.916C>A (p.Pro306Thr)	single nucleotide variant	not provided [RCV002008688]	Chr2:10048253 [GRCh38] Chr2:10188380 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.314G>T (p.Cys105Phe)	single nucleotide variant	not provided [RCV001893828]	Chr2:10047651 [GRCh38] Chr2:10187778 [GRCh37] Chr2:2p25.1	uncertain significance
GRCh37/hg19 2p25.1(chr2:9717186-12013065)x1	copy number loss	not provided [RCV001827895]	Chr2:9717186..12013065 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.1310G>T (p.Arg437Leu)	single nucleotide variant	not provided [RCV001891820]	Chr2:10052278 [GRCh38] Chr2:10192405 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.245C>A (p.Thr82Asn)	single nucleotide variant	not provided [RCV002004165]	Chr2:10046352 [GRCh38] Chr2:10186479 [GRCh37] Chr2:2p25.1	uncertain significance
GRCh37/hg19 2p25.1-24.3(chr2:8935077-15722794)x1	copy number loss	not provided [RCV001836520]	Chr2:8935077..15722794 [GRCh37] Chr2:2p25.1-24.3	uncertain significance
NM_003597.5(KLF11):c.145G>A (p.Glu49Lys)	single nucleotide variant	not provided [RCV001989746]	Chr2:10046252 [GRCh38] Chr2:10186379 [GRCh37] Chr2:2p25.1	uncertain significance
NC_000002.11:g.(?_10183844)_(10192634_?)dup	duplication	not provided [RCV001900596]	Chr2:10183844..10192634 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.1037G>T (p.Gly346Val)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV002492301]\|not provided [RCV001996209]	Chr2:10048374 [GRCh38] Chr2:10188501 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.437C>T (p.Ala146Val)	single nucleotide variant	Inborn genetic diseases [RCV002562020]\|Maturity-onset diabetes of the young type 7 [RCV002507610]\|not provided [RCV001952427]	Chr2:10047774 [GRCh38] Chr2:10187901 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.992G>T (p.Gly331Val)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV002507614]\|not provided [RCV001952691]	Chr2:10048329 [GRCh38] Chr2:10188456 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.12G>A (p.Pro4=)	single nucleotide variant	not provided [RCV002106625]	Chr2:10043728 [GRCh38] Chr2:10183855 [GRCh37] Chr2:2p25.1	likely benign
NM_003597.5(KLF11):c.42+19G>A	single nucleotide variant	not provided [RCV002126241]	Chr2:10043777 [GRCh38] Chr2:10183904 [GRCh37] Chr2:2p25.1	likely benign
NM_003597.5(KLF11):c.313-3del	deletion	not provided [RCV002080424]	Chr2:10047638 [GRCh38] Chr2:10187765 [GRCh37] Chr2:2p25.1	benign
NM_003597.5(KLF11):c.196C>T (p.Leu66=)	single nucleotide variant	not provided [RCV002116630]	Chr2:10046303 [GRCh38] Chr2:10186430 [GRCh37] Chr2:2p25.1	benign
NM_003597.5(KLF11):c.43-9C>T	single nucleotide variant	not provided [RCV002220168]	Chr2:10046141 [GRCh38] Chr2:10186268 [GRCh37] Chr2:2p25.1	likely benign
NM_003597.5(KLF11):c.42+18C>G	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV002500248]\|not provided [RCV002135353]	Chr2:10043776 [GRCh38] Chr2:10183903 [GRCh37] Chr2:2p25.1	likely benign
NM_003597.5(KLF11):c.1050G>A (p.Pro350=)	single nucleotide variant	Maturity-onset diabetes of the young type 7 [RCV002505814]\|not provided [RCV002143734]	Chr2:10048387 [GRCh38] Chr2:10188514 [GRCh37] Chr2:2p25.1	likely benign
NC_000002.11:g.(?_7968276)_(10192634_?)del	deletion	not provided [RCV003109738]	Chr2:7968276..10192634 [GRCh37] Chr2:2p25.1	pathogenic
NC_000002.11:g.(?_7968276)_(10192634_?)dup	duplication	not provided [RCV003109740]	Chr2:7968276..10192634 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.914C>T (p.Pro305Leu)	single nucleotide variant	not provided [RCV002254477]	Chr2:10048251 [GRCh38] Chr2:10188378 [GRCh37] Chr2:2p25.1	uncertain significance
GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	copy number gain	not provided [RCV002473946]	Chr2:706460..35523639 [GRCh37] Chr2:2p25.3-22.3	pathogenic
NM_003597.5(KLF11):c.523G>A (p.Val175Met)	single nucleotide variant	Inborn genetic diseases [RCV002618889]\|not provided [RCV002626799]	Chr2:10047860 [GRCh38] Chr2:10187987 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.938C>T (p.Thr313Ile)	single nucleotide variant	Inborn genetic diseases [RCV002685129]	Chr2:10048275 [GRCh38] Chr2:10188402 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.754T>C (p.Trp252Arg)	single nucleotide variant	Inborn genetic diseases [RCV002901970]	Chr2:10048091 [GRCh38] Chr2:10188218 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.458C>T (p.Ala153Val)	single nucleotide variant	Inborn genetic diseases [RCV003012993]	Chr2:10047795 [GRCh38] Chr2:10187922 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.650C>T (p.Thr217Ile)	single nucleotide variant	not provided [RCV003017146]	Chr2:10047987 [GRCh38] Chr2:10188114 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.758C>G (p.Pro253Arg)	single nucleotide variant	not provided [RCV002972404]	Chr2:10048095 [GRCh38] Chr2:10188222 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.793G>A (p.Glu265Lys)	single nucleotide variant	not provided [RCV002800183]	Chr2:10048130 [GRCh38] Chr2:10188257 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.714T>C (p.Ser238_Gly239=)	single nucleotide variant	not provided [RCV002795791]	Chr2:10048051 [GRCh38] Chr2:10188178 [GRCh37] Chr2:2p25.1	likely benign
NM_003597.5(KLF11):c.407C>T (p.Thr136Met)	single nucleotide variant	not provided [RCV002795376]	Chr2:10047744 [GRCh38] Chr2:10187871 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.1313C>T (p.Ser438Leu)	single nucleotide variant	Inborn genetic diseases [RCV002705101]	Chr2:10052281 [GRCh38] Chr2:10192408 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.36G>A (p.Ala12_Arg13=)	single nucleotide variant	not provided [RCV002870944]	Chr2:10043752 [GRCh38] Chr2:10183879 [GRCh37] Chr2:2p25.1	likely benign
NM_003597.5(KLF11):c.727C>G (p.Leu243Val)	single nucleotide variant	not provided [RCV002619376]	Chr2:10048064 [GRCh38] Chr2:10188191 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.275C>T (p.Pro92Leu)	single nucleotide variant	not provided [RCV002785559]	Chr2:10046382 [GRCh38] Chr2:10186509 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.353C>T (p.Ser118Leu)	single nucleotide variant	not provided [RCV003085293]	Chr2:10047690 [GRCh38] Chr2:10187817 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.350C>T (p.Pro117Leu)	single nucleotide variant	Inborn genetic diseases [RCV002915601]	Chr2:10047687 [GRCh38] Chr2:10187814 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.630C>G (p.His210Gln)	single nucleotide variant	Inborn genetic diseases [RCV002919396]	Chr2:10047967 [GRCh38] Chr2:10188094 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.451G>C (p.Gly151Arg)	single nucleotide variant	Inborn genetic diseases [RCV002743152]	Chr2:10047788 [GRCh38] Chr2:10187915 [GRCh37] Chr2:2p25.1	likely benign
NM_003597.5(KLF11):c.49A>G (p.Ile17Val)	single nucleotide variant	not provided [RCV003082831]	Chr2:10046156 [GRCh38] Chr2:10186283 [GRCh37] Chr2:2p25.1	likely benign
NM_003597.5(KLF11):c.422C>T (p.Ser141Phe)	single nucleotide variant	Inborn genetic diseases [RCV002929409]	Chr2:10047759 [GRCh38] Chr2:10187886 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.42+16_42+29dup	duplication	not provided [RCV002574018]	Chr2:10043771..10043772 [GRCh38] Chr2:10183898..10183899 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.655C>G (p.Leu219Val)	single nucleotide variant	Inborn genetic diseases [RCV002940577]	Chr2:10047992 [GRCh38] Chr2:10188119 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.1447C>T (p.Pro483Ser)	single nucleotide variant	not provided [RCV002577719]	Chr2:10052415 [GRCh38] Chr2:10192542 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.842C>G (p.Pro281Arg)	single nucleotide variant	not provided [RCV003026528]	Chr2:10048179 [GRCh38] Chr2:10188306 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.189A>G (p.Lys63_Gly64=)	single nucleotide variant	not provided [RCV002807085]	Chr2:10046296 [GRCh38] Chr2:10186423 [GRCh37] Chr2:2p25.1	likely benign
NM_003597.5(KLF11):c.1298A>G (p.Lys433Arg)	single nucleotide variant	not provided [RCV002963256]	Chr2:10052266 [GRCh38] Chr2:10192393 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.428C>T (p.Ala143Val)	single nucleotide variant	not provided [RCV003030637]	Chr2:10047765 [GRCh38] Chr2:10187892 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.1041C>T (p.Ala347_Leu348=)	single nucleotide variant	not provided [RCV002647701]	Chr2:10048378 [GRCh38] Chr2:10188505 [GRCh37] Chr2:2p25.1	benign
NM_003597.5(KLF11):c.1382G>A (p.Arg461Gln)	single nucleotide variant	not provided [RCV003086345]	Chr2:10052350 [GRCh38] Chr2:10192477 [GRCh37] Chr2:2p25.1	likely benign
NM_003597.5(KLF11):c.1390A>G (p.Met464Val)	single nucleotide variant	not provided [RCV002716733]	Chr2:10052358 [GRCh38] Chr2:10192485 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.940G>C (p.Val314Leu)	single nucleotide variant	Inborn genetic diseases [RCV002634582]\|not provided [RCV002634583]	Chr2:10048277 [GRCh38] Chr2:10188404 [GRCh37] Chr2:2p25.1	uncertain significance
NM_003597.5(KLF11):c.1314G>A (p.Ser438_Asp439=)	single nucleotide variant	not provided [RCV002583136]	Chr2:10052282 [GRCh38] Chr2:10192409 [GRCh37] Chr2:2p25.1	likely benign
NM_003597.5(KLF11):c.1110C>T (p.Ala370_Pro371=)	single nucleotide variant	not provided [RCV002586892]	Chr2:10048447 [GRCh38] Chr2:10188574 [GRCh37] Chr2:2p25.1	likely benign

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	4464
Count of miRNA genes:	944
Interacting mature miRNAs:	1102
Transcripts:	ENST00000305883, ENST00000401510, ENST00000440320, ENST00000448523, ENST00000535335, ENST00000540845
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

SHGC-33613

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	10,191,990 - 10,192,116	UniSTS	GRCh37
Build 36	2	10,109,441 - 10,109,567	RGD	NCBI36
Celera	2	10,108,207 - 10,108,333	RGD
Cytogenetic Map	2	p25	UniSTS
HuRef	2	10,043,738 - 10,043,864	UniSTS
TNG Radiation Hybrid Map	2	6792.0	UniSTS
Stanford-G3 RH Map	2	310.0	UniSTS
GeneMap99-GB4 RH Map	2	46.29	UniSTS
Whitehead-RH Map	2	48.0	UniSTS
NCBI RH Map	2	36.8	UniSTS
GeneMap99-G3 RH Map	2	305.0	UniSTS

RH78629

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	10,186,390 - 10,186,522	UniSTS	GRCh37
Build 36	2	10,103,841 - 10,103,973	RGD	NCBI36
Celera	2	10,102,605 - 10,102,737	RGD
Cytogenetic Map	2	p25	UniSTS
HuRef	2	10,038,136 - 10,038,268	UniSTS

RH11597

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	10,194,690 - 10,194,801	UniSTS	GRCh37
Build 36	2	10,112,141 - 10,112,252	RGD	NCBI36
Celera	2	10,110,909 - 10,111,020	RGD
Cytogenetic Map	2	p25.1	UniSTS
Cytogenetic Map	2	p25	UniSTS
HuRef	2	10,046,440 - 10,046,551	UniSTS
GeneMap99-GB4 RH Map	2	39.8	UniSTS

SHGC-36737

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	10,194,824 - 10,194,931	UniSTS	GRCh37
Build 36	2	10,112,275 - 10,112,382	RGD	NCBI36
Celera	2	10,111,043 - 10,111,150	RGD
Cytogenetic Map	2	p25.1	UniSTS
Cytogenetic Map	2	p25	UniSTS
HuRef	2	10,046,574 - 10,046,681	UniSTS
TNG Radiation Hybrid Map	2	6792.0	UniSTS
Stanford-G3 RH Map	2	305.0	UniSTS
NCBI RH Map	2	35.6	UniSTS
GeneMap99-G3 RH Map	2	300.0	UniSTS

G20404

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	10,194,680 - 10,194,936	UniSTS	GRCh37
Build 36	2	10,112,131 - 10,112,387	RGD	NCBI36
Celera	2	10,110,899 - 10,111,155	RGD
Cytogenetic Map	2	p25.1	UniSTS
Cytogenetic Map	2	p25	UniSTS
HuRef	2	10,046,430 - 10,046,686	UniSTS

A005P43

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	10,194,680 - 10,194,936	UniSTS	GRCh37
Build 36	2	10,112,131 - 10,112,387	RGD	NCBI36
Celera	2	10,110,899 - 10,111,155	RGD
Cytogenetic Map	2	p25.1	UniSTS
Cytogenetic Map	2	p25	UniSTS
HuRef	2	10,046,430 - 10,046,686	UniSTS
GeneMap99-GB4 RH Map	2	39.8	UniSTS

TIEG2_8811

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	10,194,240 - 10,195,082	UniSTS	GRCh37
Build 36	2	10,111,691 - 10,112,533	RGD	NCBI36
Celera	2	10,110,459 - 10,111,301	RGD
HuRef	2	10,045,990 - 10,046,832	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

1816

1493

1127

374

518

275

3596

1060

931

296

1205

1496

106

1200

2130

Low

619

1461

595

248

1310

189

759

1135

2736

121

248

112

658

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_017199	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001177716	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001177718	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_003597	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047446025	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC104794	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF028008	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF272830	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI183650	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI755210	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ275989	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK002186	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK289816	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK302880	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK315345	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK316439	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC063286	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC069383	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC074922	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG701929	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM548792	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ881155	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CB990375	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471053	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068276	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CQ855663	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CQ868162	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000305883 ⟹ ENSP00000307023

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	2	10,043,550 - 10,054,836 (+)	Ensembl

RefSeq Acc Id:

ENST00000401510 ⟹ ENSP00000386058

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	2	10,042,849 - 10,047,770 (+)	Ensembl

RefSeq Acc Id:

ENST00000440320 ⟹ ENSP00000388263

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	2	10,044,175 - 10,047,755 (+)	Ensembl

RefSeq Acc Id:

ENST00000448523 ⟹ ENSP00000387866

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	2	10,043,829 - 10,047,879 (+)	Ensembl

RefSeq Acc Id:

ENST00000535335 ⟹ ENSP00000442722

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	2	10,044,245 - 10,054,836 (+)	Ensembl

RefSeq Acc Id:

ENST00000540845 ⟹ ENSP00000444690

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	2	10,043,829 - 10,054,836 (+)	Ensembl

RefSeq Acc Id:

NM_001177716 ⟹ NP_001171187

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	10,043,829 - 10,054,836 (+)	NCBI
GRCh37	2	10,170,776 - 10,194,963 (+)	NCBI
HuRef	2	10,036,117 - 10,046,713 (+)	ENTREZGENE
CHM1_1	2	10,113,816 - 10,124,797 (+)	NCBI
T2T-CHM13v2.0	2	10,072,605 - 10,083,576 (+)	NCBI

Sequence:

show sequence

ACTCGCGCGCCTGTAAATGCGGGAGGTGGGGCGTGCAGGGCTTCGCTGCGGCCGCGCCGGTTGA
CATCATGGACATATGTGAGTCCATCCTGGAGAGGAAGCGGCATGACAGCGAAAGGTCTACTTGC
AGCATCTTGGAGCAGACAGACATGGAAGCTGTCGAGGCTCTTGTTTGTATGAGCTCCTGGGGTC
AAAGATCCCAGAAAGGTGACCTGTTGCGGATAAGACCCCTCACGCCTGTCTCTGACTCTGGGGA
TGTCACCACCACTGTGCATATGGATGCAGCCACACCTGAACTACCAAAAGACTTCCATTCTTTA
TCGACTCTGTGCATAACTCCTCCTCAGAGCCCTGATCTCGTGGAGCCATCGACAAGGACACCTG
TTTCTCCCCAAGTAACAGATTCCAAAGCATGTACAGCCACGGATGTTCTCCAGTCCTCTGCCGT
AGTGGCCAGAGCTCTGAGCGGGGGCGCGGAGAGGGGCTTGCTGGGTTTGGAGCCAGTGCCCAGC
TCTCCCTGCAGGGCCAAGGGGACTAGCGTGATCCGACACACTGGGGAGAGCCCTGCTGCCTGCT
TTCCCACCATCCAGACTCCAGATTGCCGGCTTTCTGACAGCAGAGAAGGAGAAGAGCAGCTTCT
GGGACACTTTGAAACTTTGCAGGACACACACCTCACGGACAGTTTACTCAGCACTAACTTGGTG
TCCTGTCAGCCCTGCTTGCACAAGTCTGGTGGCCTGCTGCTCACTGACAAAGGCCAGCAGGCAG
GGTGGCCTGGTGCAGTTCAGACTTGCTCACCAAAGAATTATGAAAATGACCTGCCCAGGAAAAC
CACCCCTCTGATTTCTGTCTCTGTCCCTGCTCCCCCTGTCCTTTGCCAGATGATCCCTGTGACT
GGACAAAGTAGCATGTTACCAGCTTTTTTGAAGCCCCCTCCCCAGTTGTCTGTGGGGACTGTGA
GACCCATCCTAGCTCAGGCTGCTCCAGCGCCTCAACCTGTGTTCGTGGGACCTGCTGTGCCTCA
GGGAGCTGTGATGTTGGTCCTGCCCCAGGGAGCCCTCCCTCCGCCTGCCCCCTGTGCAGCCAAT
GTCATGGCTGCCGGGAATACCAAGTTGTTGCCCCTTGCCCCTGCTCCAGTGTTCATCACCTCTA
GCCAAAACTGTGTCCCTCAGGTAGACTTTTCCCGAAGGAGGAACTATGTATGCAGCTTCCCAGG
TTGCCGGAAGACCTACTTCAAAAGTTCCCACCTTAAGGCCCATCTTCGCACTCACACAGGGGAG
AAGCCTTTCAACTGCAGCTGGGATGGCTGTGATAAAAAGTTTGCTCGTTCGGATGAGCTGTCAC
GCCACCGCAGAACTCACACAGGGGAGAAGAAGTTTGTGTGCCCGGTGTGTGACCGACGTTTCAT
GCGCAGTGACCACCTGACGAAGCATGCCCGGCGCCACATGACGACCAAGAAGATCCCAGGCTGG
CAGGCAGAGGTTGGCAAGCTGAACAGAATCGCCTCTGCAGAGAGCCCGGGGAGCCCACTGGTGA
GCATGCCAGCCTCTGCCTGAAAGGTCCATTAGGACATCACTCATGGGATTTTTAAAAAGCCTCT
TTCCAGGAATGGAACTGATGGATTCCTCTCCCACTGCCTCACCCAAAAAAAACGGTCTTGGCGG
CCTAGGGGAAGATCGGGGAGCTGGTTTTGATGAAAGTATGTTAACTTTTCTTTTCCACTTGGGA
CCCTGTTCAGTATCTTTTGTAGTTTCAGAAGTTTTTTTGTTTTGGTTTTTTTTTTAAAGAAATG
GTAGAAAATTTGATAATCTGAATCACCAGCATTCAAACAAATATTTCGGCAATAAAGTTTACAA
AATCTGGATTTTTACAACCTTTTCTATTGATGTTTTGTAGAAATAAGACAGGGTACTAATTTTT
ATACTGGTTTTTAGAAAAATATTTATATTGTTGGTGCTCAAATCACCAATTTCTAGCTAGATCA
TTTTGCAGCCTTCTTTTCAGTGTTTAATAACAAAGTTTTTCCTAATGGCCCTTCTTTTAGTAAA
CTGGACATGTTATTCCACTACAAAAACCACAAGTTATCTGGCCTTTTAGATCTTTTTGGAATCG
GACCTGGTTGAGTAAGGACCTCTTAAAAGGGAAAAATAAATTTTGCCGTCAGCTTCTTCATAAC
GTTTTCAAGGAAATTCTAGGCAATCATTCCTGTCACCAAAGAACTAAAATTTTGGTTGACTGGA
ACTAGTGAGCTGTGTCCATGGTGTGTCATGAAGGATGTACCCCAGAGAGTAACATGAGCCACTG
GGCAGATCCCAGGGACCAGTACTTGCTGCAGGATCTAGTCTGTAATAGTCTTGGCCATGGCTCT
GCTGAAAGCAAGCCATTCAGTTTCTTGTTTGTACCTAAAACACCAAAAAAGAAACACTCAAATC
CAGCTGCTTTGTCAATTGTCAGTTCTGACTCCTTTTGCTGTGGCCTTATCCGTACTATATTGTG
GGTAGAGTAACTTCTCAGAAAAAAAGGAAATGTCTGTATTGGTTGGATGAAACTCCACCAGAGC
ACAGCTTAGCTGGGGCGAGATGCATGTGAAGGCAGGCAGTGCCAAGATTCCGCTTCCTTTGTTT
GCCAAATACTAGAAACACAAGGAAATGCAAGTTACGCTAAATGGCAGTAATACTACCCAACTGC
CTTTCTGTTCATTTTGTTTGAAGGAAATTGTTTTGACCAAACAGAAAATTACTTGGAATGGTGT
GTTTTACAGTCTACCTAGAAAATAGATGGACAATATTTTTCAACTGTATGAGCACGTAGATAAC
CGAGAGAATGTGGCCACCTGTGTTCAAGAAGCCACTGATACTGGTTTTTGTTAAACATTGGAAG
TTCAGGCAATGGAATAAATGTAGGAACATACAGAATGTTGCACTAATTTGGTAGCCTGGGAATT
TTTTTTATTGTGCAGTATGTATTTAAATTTTGTCTATGTTAATTACCAGCATTTACCTTTATTT
AAATGATGGTAAGGTGGAATATTGAATAAAATTAGGTTTTGTGTTTTGTTCTTTGTAGTCTGAT
AAAATCTCCACCTGGTCATTCATTGTGTGTGACTTGATACCTGTTAACTTGCCCCTTAGTATCA
GCTGTTACTTGACACAAATGTGTGTGTTATTCAGAGGTTTTCAGTCTGGACACTCCATAGGTGA
GTGTCGTGTCTTCGTGAGACAGCACAGTTGTCTCATGTTGTGCATAGTTCATGTTTCCTCACCA
CCCAGTCCTTTCTCCTGCTCATCAAAATCAGCATACACATTTTTGACTGTACACACTATAAATG
GCATCAAATTTGGATATTTTTCTTAATTATGACATGCAAAGTAATGTGAGTCCTGCCAGTATTC
TGGTGGATAAGGTCTTTTGAGTATTTGGTTGCTTGTCACAACATTCTCCAAGCAGTGATATTTC
TAAAGAGGAGATACATGTTGAAAACGGTTTTAATTTACACTTCCATTTCCTGATTACATTTGGA
AATACTTTGTGTAAACCATCCCCCTTCCACCTCCATTTGTCTGTTGAAAGATTTTAAGTTGGAA
ACAGTTCCTGTCTGAAAACTCTTCTGAGAACCACAAACCTTGTGTATGGATTCGGCATGGAGCC
CTCAGCTGGCGGCTCTGGGTGCTGACGGCCGCTGGAGAGGTGGGCTCCCCTCGTGCACTTTATT
GCCTGGGCAGTTTTGCTTGATCTTTTGTGACTTTGAGCCTTTTAAGTAGTTTGAATGATAAGAC
TTAAAATGTTTCATAATTATGTTTTATGTAACAGACTTTGACATTATTTAAACGAGCATGTGTA
ATGTAACTTTTCTCTTTGAATCATATAAAACTTGATTTTACATTG

hide sequence

RefSeq Acc Id:

NM_001177718 ⟹ NP_001171189

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	10,044,221 - 10,054,836 (+)	NCBI
GRCh37	2	10,170,776 - 10,194,963 (+)	NCBI
HuRef	2	10,036,117 - 10,046,713 (+)	ENTREZGENE
CHM1_1	2	10,114,233 - 10,124,797 (+)	NCBI
T2T-CHM13v2.0	2	10,072,954 - 10,083,576 (+)	NCBI

Sequence:

show sequence

GGGCCTGGGGGCGGGCAAGGTCTAGGGGCCGGGGCAACGACGGGAGGCGGGAGCGCCGCACTGC
CTTGGAGGCGGGGCAACGCTTGGAGGCGGGAACGCGGCACGCGAGCGTTGGGGGCCCTAAGCGT
CGCGACCTGGGGGCTTCGGGGAGGTAGCCGTGGACGTGGGCAGAGCGCGGGCCTCGTGGTGTGC
GGGCACTGTGGGCCGGGCGAGCCCCTTCCCGCCCGTGTGGTTGACATCATGGACATATGTGAGT
CCATCCTGGAGAGGAAGCGGCATGACAGCGAAAGGTCTACTTGCAGCATCTTGGAGCAGACAGA
CATGGAAGCTGTCGAGGCTCTTGTTTGTATGAGCTCCTGGGGTCAAAGATCCCAGAAAGGTGAC
CTGTTGCGGATAAGACCCCTCACGCCTGTCTCTGACTCTGGGGATGTCACCACCACTGTGCATA
TGGATGCAGCCACACCTGAACTACCAAAAGACTTCCATTCTTTATCGACTCTGTGCATAACTCC
TCCTCAGAGCCCTGATCTCGTGGAGCCATCGACAAGGACACCTGTTTCTCCCCAAGTAACAGAT
TCCAAAGCATGTACAGCCACGGATGTTCTCCAGTCCTCTGCCGTAGTGGCCAGAGCTCTGAGCG
GGGGCGCGGAGAGGGGCTTGCTGGGTTTGGAGCCAGTGCCCAGCTCTCCCTGCAGGGCCAAGGG
GACTAGCGTGATCCGACACACTGGGGAGAGCCCTGCTGCCTGCTTTCCCACCATCCAGACTCCA
GATTGCCGGCTTTCTGACAGCAGAGAAGGAGAAGAGCAGCTTCTGGGACACTTTGAAACTTTGC
AGGACACACACCTCACGGACAGTTTACTCAGCACTAACTTGGTGTCCTGTCAGCCCTGCTTGCA
CAAGTCTGGTGGCCTGCTGCTCACTGACAAAGGCCAGCAGGCAGGGTGGCCTGGTGCAGTTCAG
ACTTGCTCACCAAAGAATTATGAAAATGACCTGCCCAGGAAAACCACCCCTCTGATTTCTGTCT
CTGTCCCTGCTCCCCCTGTCCTTTGCCAGATGATCCCTGTGACTGGACAAAGTAGCATGTTACC
AGCTTTTTTGAAGCCCCCTCCCCAGTTGTCTGTGGGGACTGTGAGACCCATCCTAGCTCAGGCT
GCTCCAGCGCCTCAACCTGTGTTCGTGGGACCTGCTGTGCCTCAGGGAGCTGTGATGTTGGTCC
TGCCCCAGGGAGCCCTCCCTCCGCCTGCCCCCTGTGCAGCCAATGTCATGGCTGCCGGGAATAC
CAAGTTGTTGCCCCTTGCCCCTGCTCCAGTGTTCATCACCTCTAGCCAAAACTGTGTCCCTCAG
GTAGACTTTTCCCGAAGGAGGAACTATGTATGCAGCTTCCCAGGTTGCCGGAAGACCTACTTCA
AAAGTTCCCACCTTAAGGCCCATCTTCGCACTCACACAGGGGAGAAGCCTTTCAACTGCAGCTG
GGATGGCTGTGATAAAAAGTTTGCTCGTTCGGATGAGCTGTCACGCCACCGCAGAACTCACACA
GGGGAGAAGAAGTTTGTGTGCCCGGTGTGTGACCGACGTTTCATGCGCAGTGACCACCTGACGA
AGCATGCCCGGCGCCACATGACGACCAAGAAGATCCCAGGCTGGCAGGCAGAGGTTGGCAAGCT
GAACAGAATCGCCTCTGCAGAGAGCCCGGGGAGCCCACTGGTGAGCATGCCAGCCTCTGCCTGA
AAGGTCCATTAGGACATCACTCATGGGATTTTTAAAAAGCCTCTTTCCAGGAATGGAACTGATG
GATTCCTCTCCCACTGCCTCACCCAAAAAAAACGGTCTTGGCGGCCTAGGGGAAGATCGGGGAG
CTGGTTTTGATGAAAGTATGTTAACTTTTCTTTTCCACTTGGGACCCTGTTCAGTATCTTTTGT
AGTTTCAGAAGTTTTTTTGTTTTGGTTTTTTTTTTAAAGAAATGGTAGAAAATTTGATAATCTG
AATCACCAGCATTCAAACAAATATTTCGGCAATAAAGTTTACAAAATCTGGATTTTTACAACCT
TTTCTATTGATGTTTTGTAGAAATAAGACAGGGTACTAATTTTTATACTGGTTTTTAGAAAAAT
ATTTATATTGTTGGTGCTCAAATCACCAATTTCTAGCTAGATCATTTTGCAGCCTTCTTTTCAG
TGTTTAATAACAAAGTTTTTCCTAATGGCCCTTCTTTTAGTAAACTGGACATGTTATTCCACTA
CAAAAACCACAAGTTATCTGGCCTTTTAGATCTTTTTGGAATCGGACCTGGTTGAGTAAGGACC
TCTTAAAAGGGAAAAATAAATTTTGCCGTCAGCTTCTTCATAACGTTTTCAAGGAAATTCTAGG
CAATCATTCCTGTCACCAAAGAACTAAAATTTTGGTTGACTGGAACTAGTGAGCTGTGTCCATG
GTGTGTCATGAAGGATGTACCCCAGAGAGTAACATGAGCCACTGGGCAGATCCCAGGGACCAGT
ACTTGCTGCAGGATCTAGTCTGTAATAGTCTTGGCCATGGCTCTGCTGAAAGCAAGCCATTCAG
TTTCTTGTTTGTACCTAAAACACCAAAAAAGAAACACTCAAATCCAGCTGCTTTGTCAATTGTC
AGTTCTGACTCCTTTTGCTGTGGCCTTATCCGTACTATATTGTGGGTAGAGTAACTTCTCAGAA
AAAAAGGAAATGTCTGTATTGGTTGGATGAAACTCCACCAGAGCACAGCTTAGCTGGGGCGAGA
TGCATGTGAAGGCAGGCAGTGCCAAGATTCCGCTTCCTTTGTTTGCCAAATACTAGAAACACAA
GGAAATGCAAGTTACGCTAAATGGCAGTAATACTACCCAACTGCCTTTCTGTTCATTTTGTTTG
AAGGAAATTGTTTTGACCAAACAGAAAATTACTTGGAATGGTGTGTTTTACAGTCTACCTAGAA
AATAGATGGACAATATTTTTCAACTGTATGAGCACGTAGATAACCGAGAGAATGTGGCCACCTG
TGTTCAAGAAGCCACTGATACTGGTTTTTGTTAAACATTGGAAGTTCAGGCAATGGAATAAATG
TAGGAACATACAGAATGTTGCACTAATTTGGTAGCCTGGGAATTTTTTTTATTGTGCAGTATGT
ATTTAAATTTTGTCTATGTTAATTACCAGCATTTACCTTTATTTAAATGATGGTAAGGTGGAAT
ATTGAATAAAATTAGGTTTTGTGTTTTGTTCTTTGTAGTCTGATAAAATCTCCACCTGGTCATT
CATTGTGTGTGACTTGATACCTGTTAACTTGCCCCTTAGTATCAGCTGTTACTTGACACAAATG
TGTGTGTTATTCAGAGGTTTTCAGTCTGGACACTCCATAGGTGAGTGTCGTGTCTTCGTGAGAC
AGCACAGTTGTCTCATGTTGTGCATAGTTCATGTTTCCTCACCACCCAGTCCTTTCTCCTGCTC
ATCAAAATCAGCATACACATTTTTGACTGTACACACTATAAATGGCATCAAATTTGGATATTTT
TCTTAATTATGACATGCAAAGTAATGTGAGTCCTGCCAGTATTCTGGTGGATAAGGTCTTTTGA
GTATTTGGTTGCTTGTCACAACATTCTCCAAGCAGTGATATTTCTAAAGAGGAGATACATGTTG
AAAACGGTTTTAATTTACACTTCCATTTCCTGATTACATTTGGAAATACTTTGTGTAAACCATC
CCCCTTCCACCTCCATTTGTCTGTTGAAAGATTTTAAGTTGGAAACAGTTCCTGTCTGAAAACT
CTTCTGAGAACCACAAACCTTGTGTATGGATTCGGCATGGAGCCCTCAGCTGGCGGCTCTGGGT
GCTGACGGCCGCTGGAGAGGTGGGCTCCCCTCGTGCACTTTATTGCCTGGGCAGTTTTGCTTGA
TCTTTTGTGACTTTGAGCCTTTTAAGTAGTTTGAATGATAAGACTTAAAATGTTTCATAATTAT
GTTTTATGTAACAGACTTTGACATTATTTAAACGAGCATGTGTAATGTAACTTTTCTCTTTGAA
TCATATAAAACTTGATTTTACATTG

hide sequence

RefSeq Acc Id:

NM_003597 ⟹ NP_003588

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	10,043,550 - 10,054,836 (+)	NCBI
GRCh37	2	10,170,776 - 10,194,963 (+)	NCBI
Build 36	2	10,101,133 - 10,112,414 (+)	NCBI Archive
HuRef	2	10,036,117 - 10,046,713 (+)	ENTREZGENE
CHM1_1	2	10,113,564 - 10,124,797 (+)	NCBI
T2T-CHM13v2.0	2	10,072,326 - 10,083,576 (+)	NCBI

Sequence:

show sequence

GCCGCGAGGGCCGCGCCGGGGCAGAGCCGCGCGGGCGGGCGAGGCGCGTGCCGGCCGCAGGAGC
TCCGGGTTGCCGCCGCCGCCGCCGCCCGCAGCCCACGTGCGGCCGCTGCTGCGCCCGAGCTCAC
GCCCCGCGGCCGCTTTGTTGCTCCCGGCCGGCCTGCACGATGCACACGCCGGACTTCGCAGGCC
CAGACGACGCGCGCGCAGTTGACATCATGGACATATGTGAGTCCATCCTGGAGAGGAAGCGGCA
TGACAGCGAAAGGTCTACTTGCAGCATCTTGGAGCAGACAGACATGGAAGCTGTCGAGGCTCTT
GTTTGTATGAGCTCCTGGGGTCAAAGATCCCAGAAAGGTGACCTGTTGCGGATAAGACCCCTCA
CGCCTGTCTCTGACTCTGGGGATGTCACCACCACTGTGCATATGGATGCAGCCACACCTGAACT
ACCAAAAGACTTCCATTCTTTATCGACTCTGTGCATAACTCCTCCTCAGAGCCCTGATCTCGTG
GAGCCATCGACAAGGACACCTGTTTCTCCCCAAGTAACAGATTCCAAAGCATGTACAGCCACGG
ATGTTCTCCAGTCCTCTGCCGTAGTGGCCAGAGCTCTGAGCGGGGGCGCGGAGAGGGGCTTGCT
GGGTTTGGAGCCAGTGCCCAGCTCTCCCTGCAGGGCCAAGGGGACTAGCGTGATCCGACACACT
GGGGAGAGCCCTGCTGCCTGCTTTCCCACCATCCAGACTCCAGATTGCCGGCTTTCTGACAGCA
GAGAAGGAGAAGAGCAGCTTCTGGGACACTTTGAAACTTTGCAGGACACACACCTCACGGACAG
TTTACTCAGCACTAACTTGGTGTCCTGTCAGCCCTGCTTGCACAAGTCTGGTGGCCTGCTGCTC
ACTGACAAAGGCCAGCAGGCAGGGTGGCCTGGTGCAGTTCAGACTTGCTCACCAAAGAATTATG
AAAATGACCTGCCCAGGAAAACCACCCCTCTGATTTCTGTCTCTGTCCCTGCTCCCCCTGTCCT
TTGCCAGATGATCCCTGTGACTGGACAAAGTAGCATGTTACCAGCTTTTTTGAAGCCCCCTCCC
CAGTTGTCTGTGGGGACTGTGAGACCCATCCTAGCTCAGGCTGCTCCAGCGCCTCAACCTGTGT
TCGTGGGACCTGCTGTGCCTCAGGGAGCTGTGATGTTGGTCCTGCCCCAGGGAGCCCTCCCTCC
GCCTGCCCCCTGTGCAGCCAATGTCATGGCTGCCGGGAATACCAAGTTGTTGCCCCTTGCCCCT
GCTCCAGTGTTCATCACCTCTAGCCAAAACTGTGTCCCTCAGGTAGACTTTTCCCGAAGGAGGA
ACTATGTATGCAGCTTCCCAGGTTGCCGGAAGACCTACTTCAAAAGTTCCCACCTTAAGGCCCA
TCTTCGCACTCACACAGGGGAGAAGCCTTTCAACTGCAGCTGGGATGGCTGTGATAAAAAGTTT
GCTCGTTCGGATGAGCTGTCACGCCACCGCAGAACTCACACAGGGGAGAAGAAGTTTGTGTGCC
CGGTGTGTGACCGACGTTTCATGCGCAGTGACCACCTGACGAAGCATGCCCGGCGCCACATGAC
GACCAAGAAGATCCCAGGCTGGCAGGCAGAGGTTGGCAAGCTGAACAGAATCGCCTCTGCAGAG
AGCCCGGGGAGCCCACTGGTGAGCATGCCAGCCTCTGCCTGAAAGGTCCATTAGGACATCACTC
ATGGGATTTTTAAAAAGCCTCTTTCCAGGAATGGAACTGATGGATTCCTCTCCCACTGCCTCAC
CCAAAAAAAACGGTCTTGGCGGCCTAGGGGAAGATCGGGGAGCTGGTTTTGATGAAAGTATGTT
AACTTTTCTTTTCCACTTGGGACCCTGTTCAGTATCTTTTGTAGTTTCAGAAGTTTTTTTGTTT
TGGTTTTTTTTTTAAAGAAATGGTAGAAAATTTGATAATCTGAATCACCAGCATTCAAACAAAT
ATTTCGGCAATAAAGTTTACAAAATCTGGATTTTTACAACCTTTTCTATTGATGTTTTGTAGAA
ATAAGACAGGGTACTAATTTTTATACTGGTTTTTAGAAAAATATTTATATTGTTGGTGCTCAAA
TCACCAATTTCTAGCTAGATCATTTTGCAGCCTTCTTTTCAGTGTTTAATAACAAAGTTTTTCC
TAATGGCCCTTCTTTTAGTAAACTGGACATGTTATTCCACTACAAAAACCACAAGTTATCTGGC
CTTTTAGATCTTTTTGGAATCGGACCTGGTTGAGTAAGGACCTCTTAAAAGGGAAAAATAAATT
TTGCCGTCAGCTTCTTCATAACGTTTTCAAGGAAATTCTAGGCAATCATTCCTGTCACCAAAGA
ACTAAAATTTTGGTTGACTGGAACTAGTGAGCTGTGTCCATGGTGTGTCATGAAGGATGTACCC
CAGAGAGTAACATGAGCCACTGGGCAGATCCCAGGGACCAGTACTTGCTGCAGGATCTAGTCTG
TAATAGTCTTGGCCATGGCTCTGCTGAAAGCAAGCCATTCAGTTTCTTGTTTGTACCTAAAACA
CCAAAAAAGAAACACTCAAATCCAGCTGCTTTGTCAATTGTCAGTTCTGACTCCTTTTGCTGTG
GCCTTATCCGTACTATATTGTGGGTAGAGTAACTTCTCAGAAAAAAAGGAAATGTCTGTATTGG
TTGGATGAAACTCCACCAGAGCACAGCTTAGCTGGGGCGAGATGCATGTGAAGGCAGGCAGTGC
CAAGATTCCGCTTCCTTTGTTTGCCAAATACTAGAAACACAAGGAAATGCAAGTTACGCTAAAT
GGCAGTAATACTACCCAACTGCCTTTCTGTTCATTTTGTTTGAAGGAAATTGTTTTGACCAAAC
AGAAAATTACTTGGAATGGTGTGTTTTACAGTCTACCTAGAAAATAGATGGACAATATTTTTCA
ACTGTATGAGCACGTAGATAACCGAGAGAATGTGGCCACCTGTGTTCAAGAAGCCACTGATACT
GGTTTTTGTTAAACATTGGAAGTTCAGGCAATGGAATAAATGTAGGAACATACAGAATGTTGCA
CTAATTTGGTAGCCTGGGAATTTTTTTTATTGTGCAGTATGTATTTAAATTTTGTCTATGTTAA
TTACCAGCATTTACCTTTATTTAAATGATGGTAAGGTGGAATATTGAATAAAATTAGGTTTTGT
GTTTTGTTCTTTGTAGTCTGATAAAATCTCCACCTGGTCATTCATTGTGTGTGACTTGATACCT
GTTAACTTGCCCCTTAGTATCAGCTGTTACTTGACACAAATGTGTGTGTTATTCAGAGGTTTTC
AGTCTGGACACTCCATAGGTGAGTGTCGTGTCTTCGTGAGACAGCACAGTTGTCTCATGTTGTG
CATAGTTCATGTTTCCTCACCACCCAGTCCTTTCTCCTGCTCATCAAAATCAGCATACACATTT
TTGACTGTACACACTATAAATGGCATCAAATTTGGATATTTTTCTTAATTATGACATGCAAAGT
AATGTGAGTCCTGCCAGTATTCTGGTGGATAAGGTCTTTTGAGTATTTGGTTGCTTGTCACAAC
ATTCTCCAAGCAGTGATATTTCTAAAGAGGAGATACATGTTGAAAACGGTTTTAATTTACACTT
CCATTTCCTGATTACATTTGGAAATACTTTGTGTAAACCATCCCCCTTCCACCTCCATTTGTCT
GTTGAAAGATTTTAAGTTGGAAACAGTTCCTGTCTGAAAACTCTTCTGAGAACCACAAACCTTG
TGTATGGATTCGGCATGGAGCCCTCAGCTGGCGGCTCTGGGTGCTGACGGCCGCTGGAGAGGTG
GGCTCCCCTCGTGCACTTTATTGCCTGGGCAGTTTTGCTTGATCTTTTGTGACTTTGAGCCTTT
TAAGTAGTTTGAATGATAAGACTTAAAATGTTTCATAATTATGTTTTATGTAACAGACTTTGAC
ATTATTTAAACGAGCATGTGTAATGTAACTTTTCTCTTTGAATCATATAAAACTTGATTTTACA
TTG

hide sequence

RefSeq Acc Id:

XM_047446025 ⟹ XP_047301981

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	10,045,332 - 10,054,836 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001171187	(Get FASTA)	NCBI Sequence Viewer
	NP_001171189	(Get FASTA)	NCBI Sequence Viewer
	NP_003588	(Get FASTA)	NCBI Sequence Viewer
	XP_047301981	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAC61880	(Get FASTA)	NCBI Sequence Viewer
	AAF75793	(Get FASTA)	NCBI Sequence Viewer
	AAH63286	(Get FASTA)	NCBI Sequence Viewer
	AAH69383	(Get FASTA)	NCBI Sequence Viewer
	AAH74922	(Get FASTA)	NCBI Sequence Viewer
	AAX93098	(Get FASTA)	NCBI Sequence Viewer
	BAF82505	(Get FASTA)	NCBI Sequence Viewer
	BAG37743	(Get FASTA)	NCBI Sequence Viewer
	BAG64059	(Get FASTA)	NCBI Sequence Viewer
	BAH14810	(Get FASTA)	NCBI Sequence Viewer
	CAC06699	(Get FASTA)	NCBI Sequence Viewer
	CAH23425	(Get FASTA)	NCBI Sequence Viewer
	CAH33945	(Get FASTA)	NCBI Sequence Viewer
	EAX00972	(Get FASTA)	NCBI Sequence Viewer
	O14901	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:	NP_001171189 ⟸ NM_001177718
- Peptide Label:	isoform b
- UniProtKB:	O14901 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MDICESILERKRHDSERSTCSILEQTDMEAVEALVCMSSWGQRSQKGDLLRIRPLTPVSDSGDV TTTVHMDAATPELPKDFHSLSTLCITPPQSPDLVEPSTRTPVSPQVTDSKACTATDVLQSSAVV ARALSGGAERGLLGLEPVPSSPCRAKGTSVIRHTGESPAACFPTIQTPDCRLSDSREGEEQLLG HFETLQDTHLTDSLLSTNLVSCQPCLHKSGGLLLTDKGQQAGWPGAVQTCSPKNYENDLPRKTT PLISVSVPAPPVLCQMIPVTGQSSMLPAFLKPPPQLSVGTVRPILAQAAPAPQPVFVGPAVPQG AVMLVLPQGALPPPAPCAANVMAAGNTKLLPLAPAPVFITSSQNCVPQVDFSRRRNYVCSFPGC RKTYFKSSHLKAHLRTHTGEKPFNCSWDGCDKKFARSDELSRHRRTHTGEKKFVCPVCDRRFMR SDHLTKHARRHMTTKKIPGWQAEVGKLNRIASAESPGSPLVSMPASA hide sequence

RefSeq Acc Id:	NP_001171187 ⟸ NM_001177716
- Peptide Label:	isoform b
- UniProtKB:	O14901 (UniProtKB/Swiss-Prot), B7ZAX4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MDICESILERKRHDSERSTCSILEQTDMEAVEALVCMSSWGQRSQKGDLLRIRPLTPVSDSGDV TTTVHMDAATPELPKDFHSLSTLCITPPQSPDLVEPSTRTPVSPQVTDSKACTATDVLQSSAVV ARALSGGAERGLLGLEPVPSSPCRAKGTSVIRHTGESPAACFPTIQTPDCRLSDSREGEEQLLG HFETLQDTHLTDSLLSTNLVSCQPCLHKSGGLLLTDKGQQAGWPGAVQTCSPKNYENDLPRKTT PLISVSVPAPPVLCQMIPVTGQSSMLPAFLKPPPQLSVGTVRPILAQAAPAPQPVFVGPAVPQG AVMLVLPQGALPPPAPCAANVMAAGNTKLLPLAPAPVFITSSQNCVPQVDFSRRRNYVCSFPGC RKTYFKSSHLKAHLRTHTGEKPFNCSWDGCDKKFARSDELSRHRRTHTGEKKFVCPVCDRRFMR SDHLTKHARRHMTTKKIPGWQAEVGKLNRIASAESPGSPLVSMPASA hide sequence

RefSeq Acc Id:	NP_003588 ⟸ NM_003597
- Peptide Label:	isoform a
- UniProtKB:	Q9EPF4 (UniProtKB/Swiss-Prot), O14901 (UniProtKB/Swiss-Prot), Q53QU8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MHTPDFAGPDDARAVDIMDICESILERKRHDSERSTCSILEQTDMEAVEALVCMSSWGQRSQKG DLLRIRPLTPVSDSGDVTTTVHMDAATPELPKDFHSLSTLCITPPQSPDLVEPSTRTPVSPQVT DSKACTATDVLQSSAVVARALSGGAERGLLGLEPVPSSPCRAKGTSVIRHTGESPAACFPTIQT PDCRLSDSREGEEQLLGHFETLQDTHLTDSLLSTNLVSCQPCLHKSGGLLLTDKGQQAGWPGAV QTCSPKNYENDLPRKTTPLISVSVPAPPVLCQMIPVTGQSSMLPAFLKPPPQLSVGTVRPILAQ AAPAPQPVFVGPAVPQGAVMLVLPQGALPPPAPCAANVMAAGNTKLLPLAPAPVFITSSQNCVP QVDFSRRRNYVCSFPGCRKTYFKSSHLKAHLRTHTGEKPFNCSWDGCDKKFARSDELSRHRRTH TGEKKFVCPVCDRRFMRSDHLTKHARRHMTTKKIPGWQAEVGKLNRIASAESPGSPLVSMPASA hide sequence

RefSeq Acc Id:

ENSP00000307023 ⟸ ENST00000305883

RefSeq Acc Id:

ENSP00000386058 ⟸ ENST00000401510

RefSeq Acc Id:

ENSP00000388263 ⟸ ENST00000440320

RefSeq Acc Id:

ENSP00000442722 ⟸ ENST00000535335

RefSeq Acc Id:

ENSP00000387866 ⟸ ENST00000448523

RefSeq Acc Id:

ENSP00000444690 ⟸ ENST00000540845

RefSeq Acc Id:	XP_047301981 ⟸ XM_047446025
- Peptide Label:	isoform X1

Protein Domains

C2H2-type

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O14901-F1-model_v2	AlphaFold	O14901	1-512	view protein structure

Promoters

RGD ID:

6859612

Promoter ID:

EPDNEW_H2971

Type:

initiation region

Name:

KLF11_1

Description:

Kruppel like factor 11

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H2970

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	10,043,572 - 10,043,632	EPDNEW

RGD ID:

6797317

Promoter ID:

HG_KWN:31487

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid

Transcripts:

ENST00000401510, NM_001177716, NM_001177718, NM_003597, OTTHUMT00000323549, OTTHUMT00000323550

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	10,099,561 - 10,101,962 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:11811	AgrOrtholog
COSMIC	KLF11	COSMIC
Ensembl Genes	ENSG00000172059	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein	ENSP00000307023	ENTREZGENE
	ENSP00000307023.1	UniProtKB/Swiss-Prot
	ENSP00000386058.1	UniProtKB/TrEMBL
	ENSP00000387866.1	UniProtKB/TrEMBL
	ENSP00000388263.1	UniProtKB/TrEMBL
	ENSP00000442722	ENTREZGENE
	ENSP00000442722.1	UniProtKB/Swiss-Prot
	ENSP00000444690	ENTREZGENE
	ENSP00000444690.1	UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000305883	ENTREZGENE
	ENST00000305883.6	UniProtKB/Swiss-Prot
	ENST00000401510.5	UniProtKB/TrEMBL
	ENST00000440320.5	UniProtKB/TrEMBL
	ENST00000448523.5	UniProtKB/TrEMBL
	ENST00000535335	ENTREZGENE
	ENST00000535335.1	UniProtKB/Swiss-Prot
	ENST00000540845	ENTREZGENE
	ENST00000540845.5	UniProtKB/Swiss-Prot
Gene3D-CATH	Classic Zinc Finger	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000172059	GTEx
HGNC ID	HGNC:11811	ENTREZGENE
Human Proteome Map	KLF11	Human Proteome Map
InterPro	Znf_C2H2_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Znf_C2H2_type	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:8462	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	8462	ENTREZGENE
OMIM	603301	OMIM
PANTHER	KRUEPPEL-LIKE FACTOR 11	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	KRUEPPEL-LIKE TRANSCRIPTION FACTOR	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	zf-C2H2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA36518	PharmGKB
PROSITE	ZINC_FINGER_C2H2_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ZINC_FINGER_C2H2_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	ZnF_C2H2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF57667	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	B5MCC4_HUMAN	UniProtKB/TrEMBL
	B7ZAX4	ENTREZGENE, UniProtKB/TrEMBL
	C9JM94_HUMAN	UniProtKB/TrEMBL
	E7EX78_HUMAN	UniProtKB/TrEMBL
	KLF11_HUMAN	UniProtKB/Swiss-Prot
	L8EA48_HUMAN	UniProtKB/TrEMBL
	O14901	ENTREZGENE
	Q53QU8	ENTREZGENE, UniProtKB/TrEMBL
	Q9EPF4	ENTREZGENE
UniProt Secondary	B4DZE7	UniProtKB/Swiss-Prot
	Q9EPF4	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2022-07-11	KLF11	KLF transcription factor 11	KLF11	Kruppel like factor 11	Symbol and/or name change	19259463	PROVISIONAL
2016-06-07	KLF11	Kruppel like factor 11		Kruppel-like factor 11	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)

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