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Gene: ALKBH2 (alkB homolog 2, alpha-ketoglutarate dependent dioxygenase) Homo sapiens

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Symbol:

ALKBH2

Name:

alkB homolog 2, alpha-ketoglutarate dependent dioxygenase

RGD ID:

1605008

HGNC Page

HGNC:32487

Description:

Enables DNA demethylase activity; ferrous iron binding activity; and rDNA binding activity. Involved in DNA alkylation repair. Located in nucleolus and nucleoplasm.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

2OG-Fe(II) oxy DC1; ABH2; alkB homolog 2, alpha-ketoglutarate-dependent dioxygenase; alkB, alkylation repair homolog 2; alkylated DNA repair protein alkB homolog 2; alpha-ketoglutarate-dependent dioxygenase alkB homolog 2; DNA oxidative demethylase ALKBH2; FLJ99103; MGC90512; oxy DC1

RGD Orthologs

Alliance Orthologs

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	12	109,088,189 - 109,093,472 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	109,088,188 - 109,093,631 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	109,525,994 - 109,531,277 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	108,010,379 - 108,015,628 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	12	109,149,917 - 109,155,219 (-)	NCBI		Celera
Cytogenetic Map	12	q24.11	NCBI
HuRef	12	106,544,162 - 106,549,711 (-)	NCBI		HuRef
CHM1_1	12	109,493,646 - 109,498,943 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	12	109,063,001 - 109,068,284 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

1,2-dimethylhydrazine (ISO)

1H-imidazo[2,1-i]purine (EXP)

1H-pyrazole (ISO)

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

2-hydroxyglutaric acid (EXP)

4,4'-sulfonyldiphenol (EXP,ISO)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

benzo[a]pyrene (EXP)

beta-lapachone (EXP)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

calcitriol (EXP)

carbon nanotube (ISO)

cisplatin (EXP)

copper(II) chloride (EXP)

cyclosporin A (EXP)

DDE (EXP)

decabromodiphenyl ether (EXP)

dibutyl phthalate (ISO)

dioxygen (ISO)

ellagic acid (EXP)

finasteride (ISO)

fulvestrant (EXP)

gallic acid (EXP)

methyl methanesulfonate (EXP)

paracetamol (EXP,ISO)

Punicalagin (EXP)

pyrazinecarboxamide (ISO)

resveratrol (ISO)

Rhein (EXP)

sodium arsenite (EXP)

Soman (ISO)

temozolomide (EXP)

testosterone (EXP)

tetrachloromethane (ISO)

thioacetamide (ISO)

thiram (EXP)

trichloroethene (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

DNA alkylation repair (IBA,IDA,IEA)

DNA repair (IEA)

Cellular Component

nucleolus (IDA,IEA)

nucleoplasm (IDA,IEA,TAS)

nucleus (IDA,IEA)

Molecular Function

2-oxoglutarate-dependent dioxygenase activity (IEA)

broad specificity oxidative DNA demethylase activity (IBA,IDA,IEA)

cytosine C-5 DNA demethylase activity (IBA,IDA,IEA)

dioxygenase activity (IEA)

endonuclease activity (ISO)

exonuclease activity (ISO)

ferrous iron binding (IBA,IDA)

metal ion binding (IEA)

protein binding (IPI)

rDNA binding (IDA)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:12477932	PMID:12486230	PMID:12594517	PMID:15146197	PMID:15489334	PMID:16174769	PMID:16341674	PMID:16344560	PMID:17207965	PMID:18270339	PMID:18432238	PMID:18519673
PMID:18775698	PMID:19290481	PMID:19736315	PMID:20042601	PMID:20525795	PMID:20661249	PMID:20714506	PMID:21155885	PMID:21510633	PMID:21873635	PMID:22079122	PMID:22659876
PMID:23258843	PMID:23279696	PMID:23972994	PMID:25797601	PMID:25944111	PMID:26186194	PMID:26344197	PMID:26408825	PMID:26496610	PMID:26930515	PMID:27173435	PMID:28514442
PMID:30686591	PMID:30884312	PMID:31114894	PMID:32296183	PMID:33161373	PMID:33302959	PMID:33961781	PMID:35013218	PMID:35831314	PMID:35944360	PMID:35956910	PMID:37249651
PMID:37508504

Genomics

Comparative Map Data

ALKBH2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	109,088,189 - 109,093,472 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	109,088,188 - 109,093,631 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	109,525,994 - 109,531,277 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	108,010,379 - 108,015,628 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	12	109,149,917 - 109,155,219 (-)	NCBI		Celera
Cytogenetic Map	12	q24.11	NCBI
HuRef	12	106,544,162 - 106,549,711 (-)	NCBI		HuRef
CHM1_1	12	109,493,646 - 109,498,943 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	12	109,063,001 - 109,068,284 (-)	NCBI		T2T-CHM13v2.0

Alkbh2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	5	114,261,987 - 114,268,782 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	5	114,261,987 - 114,266,279 (-)	Ensembl		GRCm39 Ensembl
GRCm38	5	114,123,926 - 114,131,233 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	5	114,123,926 - 114,128,218 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	5	114,573,943 - 114,578,185 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	5	114,384,933 - 114,389,175 (-)	NCBI		MGSCv36	mm8
Celera	5	111,225,796 - 111,230,044 (-)	NCBI		Celera
Cytogenetic Map	5	F	NCBI
cM Map	5	55.97	NCBI

Alkbh2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	12	48,156,825 - 48,161,489 (+)	NCBI		GRCr8
mRatBN7.2	12	42,494,187 - 42,500,929 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	12	42,496,300 - 42,500,914 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	12	43,663,490 - 43,668,131 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	12	44,277,081 - 44,281,722 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	12	43,337,598 - 43,342,239 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	12	48,257,575 - 48,262,244 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	12	48,257,609 - 48,262,243 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	12	50,039,893 - 50,044,572 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	12	43,531,682 - 43,536,317 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	12	43,392,394 - 43,399,689 (+)	NCBI
Celera	12	44,100,824 - 44,105,459 (+)	NCBI		Celera
Cytogenetic Map	12	q16	NCBI

Alkbh2
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955455	10,255,292 - 10,265,083 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955455	10,258,736 - 10,265,100 (-)	NCBI	ChiLan1.0	ChiLan1.0

ALKBH2
(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	10	117,153,973 - 117,160,045 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	12	117,150,371 - 117,156,460 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	12	106,664,678 - 106,670,558 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	12	110,058,507 - 110,068,225 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	12	110,058,507 - 110,063,946 (-)	Ensembl	panpan1.1		panPan2

ALKBH2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	26	17,911,892 - 17,918,911 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	26	17,911,763 - 17,917,788 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	26	17,882,716 - 17,889,612 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	26	18,256,208 - 18,263,098 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	26	18,257,880 - 18,264,398 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	26	18,092,011 - 18,098,900 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	26	18,246,822 - 18,253,708 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	26	18,265,421 - 18,272,096 (+)	NCBI		UU_Cfam_GSD_1.0

Alkbh2
(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	144,564,996 - 144,571,765 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936769	904,125 - 906,881 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936769	904,129 - 908,130 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ALKBH2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	14	41,760,505 - 41,766,090 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	14	41,760,427 - 41,766,990 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	14	44,326,105 - 44,331,765 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ALKBH2
(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	11	104,292,528 - 104,298,500 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	11	104,288,454 - 104,298,196 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666037	140,805,493 - 140,810,976 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Alkbh2
(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_004624747	12,249,352 - 12,258,384 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624747	12,249,333 - 12,259,248 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in ALKBH2
16 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	copy number loss	See cases [RCV000050807]	Chr12:105234677..112194686 [GRCh38] Chr12:105628455..112632490 [GRCh37] Chr12:104152585..111116873 [NCBI36] Chr12:12q23.3-24.13	pathogenic
GRCh38/hg38 12q24.11(chr12:109081325-109154941)x3	copy number gain	See cases [RCV000135207]	Chr12:109081325..109154941 [GRCh38] Chr12:109519130..109592746 [GRCh37] Chr12:108003513..108077129 [NCBI36] Chr12:12q24.11	likely benign
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	copy number gain	See cases [RCV000139555]	Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33	pathogenic
GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	copy number gain	See cases [RCV000142447]	Chr12:91044318..109133210 [GRCh38] Chr12:91438095..109571015 [GRCh37] Chr12:89962226..108055398 [NCBI36] Chr12:12q21.33-24.11	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	copy number gain	See cases [RCV000258805]	Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33	pathogenic\|likely pathogenic
GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)x1	copy number loss	See cases [RCV000445832]	Chr12:103044333..111639805 [GRCh37] Chr12:12q23.2-24.11	likely pathogenic
GRCh37/hg19 12q24.11(chr12:109190922-109989416)x3	copy number gain	See cases [RCV000510377]	Chr12:109190922..109989416 [GRCh37] Chr12:12q24.11	likely benign
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	copy number gain	See cases [RCV000510482]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	copy number gain	See cases [RCV000511643]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
NM_001145374.2(ALKBH2):c.596A>G (p.His199Arg)	single nucleotide variant	not specified [RCV004302523]	Chr12:109088396 [GRCh38] Chr12:109526201 [GRCh37] Chr12:12q24.11	uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3	copy number gain	not provided [RCV000750246]	Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3	copy number gain	not provided [RCV000750253]	Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12q24.11(chr12:109509250-109582205)x3	copy number gain	not provided [RCV000750556]	Chr12:109509250..109582205 [GRCh37] Chr12:12q24.11	benign
GRCh37/hg19 12q24.11(chr12:109510147-109595851)x3	copy number gain	not provided [RCV000750557]	Chr12:109510147..109595851 [GRCh37] Chr12:12q24.11	benign
GRCh37/hg19 12q24.11(chr12:109511144-109595851)x3	copy number gain	not provided [RCV000750558]	Chr12:109511144..109595851 [GRCh37] Chr12:12q24.11	benign
GRCh37/hg19 12q24.11(chr12:109502471-109595474)x3	copy number gain	not provided [RCV000848861]	Chr12:109502471..109595474 [GRCh37] Chr12:12q24.11	uncertain significance
GRCh37/hg19 12q24.11(chr12:109501323-109603494)x3	copy number gain	not provided [RCV000849442]	Chr12:109501323..109603494 [GRCh37] Chr12:12q24.11	uncertain significance
NM_001145374.2(ALKBH2):c.527G>A (p.Arg176Lys)	single nucleotide variant	not specified [RCV004307265]	Chr12:109088465 [GRCh38] Chr12:109526270 [GRCh37] Chr12:12q24.11	uncertain significance
GRCh37/hg19 12q24.11(chr12:109199902-110267493)x3	copy number gain	not provided [RCV001006530]	Chr12:109199902..110267493 [GRCh37] Chr12:12q24.11	uncertain significance
GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1	copy number loss	not provided [RCV001259630]	Chr12:106498814..112252906 [GRCh37] Chr12:12q23.3-24.12	pathogenic
GRCh37/hg19 12q23.3-24.11(chr12:107197584-109830564)x1	copy number loss	not provided [RCV001270637]	Chr12:107197584..109830564 [GRCh37] Chr12:12q23.3-24.11	uncertain significance
GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)	copy number loss	not specified [RCV002053016]	Chr12:103044333..111639805 [GRCh37] Chr12:12q23.2-24.11	likely pathogenic
GRCh37/hg19 12q24.11(chr12:109470903-109573425)	copy number loss	not specified [RCV002053018]	Chr12:109470903..109573425 [GRCh37] Chr12:12q24.11	uncertain significance
GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	copy number loss	not provided [RCV001834231]	Chr12:104230462..111984801 [GRCh37] Chr12:12q23.3-24.12	pathogenic
NM_001145374.2(ALKBH2):c.206A>G (p.Tyr69Cys)	single nucleotide variant	not specified [RCV004158772]	Chr12:109092581 [GRCh38] Chr12:109530386 [GRCh37] Chr12:12q24.11	uncertain significance
NM_001145374.2(ALKBH2):c.689C>T (p.Thr230Ile)	single nucleotide variant	not specified [RCV004088814]	Chr12:109088303 [GRCh38] Chr12:109526108 [GRCh37] Chr12:12q24.11	uncertain significance
NM_001145374.2(ALKBH2):c.32G>C (p.Gly11Ala)	single nucleotide variant	not specified [RCV004150162]	Chr12:109092755 [GRCh38] Chr12:109530560 [GRCh37] Chr12:12q24.11	uncertain significance
NM_001145374.2(ALKBH2):c.353C>G (p.Ala118Gly)	single nucleotide variant	not specified [RCV004203268]	Chr12:109090135 [GRCh38] Chr12:109527940 [GRCh37] Chr12:12q24.11	uncertain significance
NM_001145374.2(ALKBH2):c.685C>G (p.Pro229Ala)	single nucleotide variant	not specified [RCV004208820]	Chr12:109088307 [GRCh38] Chr12:109526112 [GRCh37] Chr12:12q24.11	uncertain significance
NM_001145374.2(ALKBH2):c.461A>C (p.Asn154Thr)	single nucleotide variant	not specified [RCV004316063]	Chr12:109090027 [GRCh38] Chr12:109527832 [GRCh37] Chr12:12q24.11	uncertain significance
NM_001145374.2(ALKBH2):c.746T>C (p.Val249Ala)	single nucleotide variant	not specified [RCV004398525]	Chr12:109088246 [GRCh38] Chr12:109526051 [GRCh37] Chr12:12q24.11	uncertain significance
NM_001145374.2(ALKBH2):c.760C>T (p.Arg254Cys)	single nucleotide variant	not specified [RCV004398530]	Chr12:109088232 [GRCh38] Chr12:109526037 [GRCh37] Chr12:12q24.11	uncertain significance
NM_001145374.2(ALKBH2):c.752T>C (p.Leu251Pro)	single nucleotide variant	not specified [RCV004633433]	Chr12:109088240 [GRCh38] Chr12:109526045 [GRCh37] Chr12:12q24.11	uncertain significance
NM_001145374.2(ALKBH2):c.148G>A (p.Gly50Ser)	single nucleotide variant	not specified [RCV004398496]	Chr12:109092639 [GRCh38] Chr12:109530444 [GRCh37] Chr12:12q24.11	uncertain significance
NM_001145374.2(ALKBH2):c.424C>T (p.Arg142Trp)	single nucleotide variant	not specified [RCV004398506]	Chr12:109090064 [GRCh38] Chr12:109527869 [GRCh37] Chr12:12q24.11	uncertain significance
NM_001145374.2(ALKBH2):c.657C>T (p.Ala219=)	single nucleotide variant	not specified [RCV004398513]	Chr12:109088335 [GRCh38] Chr12:109526140 [GRCh37] Chr12:12q24.11	likely benign
NM_001145374.2(ALKBH2):c.730G>A (p.Val244Ile)	single nucleotide variant	not specified [RCV004398522]	Chr12:109088262 [GRCh38] Chr12:109526067 [GRCh37] Chr12:12q24.11	likely benign
NM_001145374.2(ALKBH2):c.466G>C (p.Val156Leu)	single nucleotide variant	not specified [RCV004626480]	Chr12:109090022 [GRCh38] Chr12:109527827 [GRCh37] Chr12:12q24.11	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1018
Count of miRNA genes:	563
Interacting mature miRNAs:	614
Transcripts:	ENST00000343075, ENST00000429722, ENST00000440112, ENST00000536242, ENST00000536358, ENST00000536720, ENST00000543444
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

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
1559125	SPSL2_H	Serum P-selectin level QTL 2 (human)	2.59		Serum P-selectin level		12	89897665	115897665	Human
1298449	UAE2_H	Urinary albumin excretion QTL 2 (human)	2	0.005	Urinary albumin excretion	urine albumin:creatinine ratio (ACR)	12	102836889	128836889	Human
1643258	BW205_H	Body weight QTL 205 (human)	4.08	0.00001	Body fat amount	percent body fat	12	96630114	122630114	Human
1643452	BW104_H	Body weight QTL 104 (human)	1.89	0.005	Body fat amount	abdominal visceral	12	102395874	128395874	Human
1357361	BW37_H	Body weight QTL 37 (human)	4.08	0.00001	Body fat amount		12	102836889	116423339	Human
1643264	BW195_H	Body weight QTL 195 (human)		0.0151	Body weight	BMI	12	89897665	115897665	Human
1357387	BW58_H	Body weight QTL 58 (human)	2.3	0.0001	Body weight	fat free mass after exercise training	12	89438856	115438856	Human
1358827	MULTSCL22_H	Multiple sclerosis susceptibility QTL 22 (human)			Multiple sclerosis susceptibility		12	89897665	115897665	Human

Markers in Region

WI-20815

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	109,526,039 - 109,526,313	UniSTS	GRCh37
Build 36	12	108,010,422 - 108,010,696	RGD	NCBI36
Celera	12	109,149,963 - 109,150,237	RGD
Cytogenetic Map	12	q24.11	UniSTS
HuRef	12	106,544,208 - 106,544,482	UniSTS
GeneMap99-GB4 RH Map	12	427.28	UniSTS
Whitehead-RH Map	12	523.1	UniSTS

RH45951

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	109,525,550 - 109,525,674	UniSTS	GRCh37
Build 36	12	108,009,933 - 108,010,057	RGD	NCBI36
Celera	12	109,149,474 - 109,149,598	RGD
Cytogenetic Map	12	q24.11	UniSTS
HuRef	12	106,543,719 - 106,543,843	UniSTS
GeneMap99-GB4 RH Map	12	431.2	UniSTS

D20S1119

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	109,526,071 - 109,526,215	UniSTS	GRCh37
Build 36	12	108,010,454 - 108,010,598	RGD	NCBI36
Celera	12	109,149,995 - 109,150,139	RGD
Cytogenetic Map	12	q24.11	UniSTS
HuRef	12	106,544,240 - 106,544,384	UniSTS
TNG Radiation Hybrid Map	12	54017.0	UniSTS
GeneMap99-G3 RH Map	12	4645.0	UniSTS

STS-D60111

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	109,526,108 - 109,526,253	UniSTS	GRCh37
Build 36	12	108,010,491 - 108,010,636	RGD	NCBI36
Celera	12	109,150,032 - 109,150,177	RGD
Cytogenetic Map	12	q24.11	UniSTS
HuRef	12	106,544,277 - 106,544,422	UniSTS
GeneMap99-GB4 RH Map	12	431.3	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_001001655	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001145374	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001145375	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001205179	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001205180	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005253835	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005253836	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047428309	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054371118	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054371119	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054371120	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB277859	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC011596	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI278638	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK309062	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY754389	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC070489	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM785502	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM790974	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM820131	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU623121	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471054	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CN421655	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CQ786763	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA182735	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HF583627	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000343075 ⟹ ENSP00000343021

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	109,088,189 - 109,093,472 (-)	Ensembl

Ensembl Acc Id:

ENST00000429722 ⟹ ENSP00000398181

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	109,088,189 - 109,093,472 (-)	Ensembl

Ensembl Acc Id:

ENST00000440112 ⟹ ENSP00000399820

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	109,088,222 - 109,092,789 (-)	Ensembl

Ensembl Acc Id:

ENST00000536242 ⟹ ENSP00000443042

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	109,090,037 - 109,093,469 (-)	Ensembl

Ensembl Acc Id:

ENST00000536358 ⟹ ENSP00000444103

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	109,090,125 - 109,093,472 (-)	Ensembl

Ensembl Acc Id:

ENST00000536720

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	109,092,255 - 109,093,631 (-)	Ensembl

Ensembl Acc Id:

ENST00000543444 ⟹ ENSP00000474702

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	109,089,620 - 109,092,752 (-)	Ensembl

Ensembl Acc Id:

ENST00000619381 ⟹ ENSP00000478765

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	109,088,188 - 109,093,488 (-)	Ensembl

RefSeq Acc Id:

NM_001001655 ⟹ NP_001001655

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	109,088,189 - 109,093,472 (-)	NCBI
GRCh37	12	109,525,993 - 109,531,436 (-)	NCBI
Build 36	12	108,010,379 - 108,015,628 (-)	NCBI Archive
HuRef	12	106,544,162 - 106,549,711 (-)	ENTREZGENE
CHM1_1	12	109,493,646 - 109,498,943 (-)	NCBI
T2T-CHM13v2.0	12	109,063,001 - 109,068,284 (-)	NCBI

Sequence:

show sequence

GTCTTTCCCACCACGAGGCCACCAGGGTGACTGCGGGATTCCGATCTGCGCCGGAGCTGCGATG
CTAGAGCACTCTTGCCACCCCCACCCCACGGACGTGTTGCAGTGATATCAGAATTTTGCGTGCG
GTTTACCCGTGTTTAACCTCTTTGCGTCTCGCTTCTGAATCGTATCCACTTGAGCATCACTAGA
CTGATCTATTTTAACACTGGTGGGGGGCAGCGAGGATGGACAGATTCCTGGTGAAAGGGGCTCA
AGGGGGCCTTTTGAGGAAGCAGGAGGAGCAAGAGCCAACTGGAGAAGAGCCAGCTGTGTTGGGA
GGAGACAAAGAAAGCACAAGGAAGAGGCCCAGGAGAGAGGCCCCAGGGAATGGAGGCCACTCAG
CAGGCCCTAGCTGGCGGCACATTCGGGCTGAGGGCCTGGACTGCAGTTACACAGTCCTGTTTGG
CAAAGCTGAGGCAGATGAGATTTTCCAAGAGTTGGAGAAAGAAGTAGAATATTTTACAGGAGCA
CTGGCCAGAGTCCAGGTATTCGGGAAGTGGCACAGTGTGCCCAGGAAGCAGGCAACGTATGGCG
ACGCTGGGCTGACCTACACATTTTCAGGCCTCACGCTGTCTCCAAAGCCCTGGATCCCAGTTCT
AGAGCGCATCCGGGATCACGTCTCTGGGGTGACTGGACAGACCTTCAACTTTGTGCTCATCAAC
AGGTATAAAGATGGCTGTGACCACATCGGGGAGCACCGAGATGATGAAAGAGAACTGGCCCCTG
GGAGCCCCATTGCCTCTGTCTCCTTCGGTGCCTGCAGAGACTTTGTCTTCCGGCATAAGGATTC
CCGTGGGAAAAGCCCCTCCAGGAGGGTGGCGGTGGTCAGGCTGCCGCTGGCCCACGGGAGCTTA
CTAATGATGAACCACCCGACCAACACGCACTGGTACCACAGTCTTCCCGTGAGAAAGAAGGTTC
TGGCTCCACGGGTGAATCTGACTTTTCGTAAAATTTTGCTTACTAAAAAATAAAAACATTTTTA
ACAGTT

hide sequence

RefSeq Acc Id:

NM_001145374 ⟹ NP_001138846

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	109,088,189 - 109,093,472 (-)	NCBI
GRCh37	12	109,525,993 - 109,531,436 (-)	NCBI
HuRef	12	106,544,162 - 106,549,711 (-)	ENTREZGENE
CHM1_1	12	109,493,646 - 109,498,943 (-)	NCBI
T2T-CHM13v2.0	12	109,063,001 - 109,068,284 (-)	NCBI

Sequence:

show sequence

GTCTTTCCCACCACGAGGCCACCAGGGTGACTGCGGGATTCCGATCTGCGCCGGAGCTGCGATG
CTAGAGCACTCTTGCCACCCCCACCCCACGGACGTGTTGCAGTGATATCAGAATTTTGCGTGCG
GTTTACCCGTGTTTAACCTCTTTGCGTCTCGCTTCTGAATCGTATCCACTTGAGCATCACTAGA
CTGATCTATTTTAACACTGGTGGGGGGCAGCGAGGACATGGTTTTAAACTTTAAAATGAAAATG
TGAAACTAGGAATGTTGCTGTGAGACCCCTTGGACAAACAGATTTTTGCACTGGGGATAGAACT
TGAGCAATTTCTGTCTTGGCCTCGCCACTGACGTCCCTTCTTTCCTGTGGGGACAGGATGGACA
GATTCCTGGTGAAAGGGGCTCAAGGGGGCCTTTTGAGGAAGCAGGAGGAGCAAGAGCCAACTGG
AGAAGAGCCAGCTGTGTTGGGAGGAGACAAAGAAAGCACAAGGAAGAGGCCCAGGAGAGAGGCC
CCAGGGAATGGAGGCCACTCAGCAGGCCCTAGCTGGCGGCACATTCGGGCTGAGGGCCTGGACT
GCAGTTACACAGTCCTGTTTGGCAAAGCTGAGGCAGATGAGATTTTCCAAGAGTTGGAGAAAGA
AGTAGAATATTTTACAGGAGCACTGGCCAGAGTCCAGGTATTCGGGAAGTGGCACAGTGTGCCC
AGGAAGCAGGCAACGTATGGCGACGCTGGGCTGACCTACACATTTTCAGGCCTCACGCTGTCTC
CAAAGCCCTGGATCCCAGTTCTAGAGCGCATCCGGGATCACGTCTCTGGGGTGACTGGACAGAC
CTTCAACTTTGTGCTCATCAACAGGTATAAAGATGGCTGTGACCACATCGGGGAGCACCGAGAT
GATGAAAGAGAACTGGCCCCTGGGAGCCCCATTGCCTCTGTCTCCTTCGGTGCCTGCAGAGACT
TTGTCTTCCGGCATAAGGATTCCCGTGGGAAAAGCCCCTCCAGGAGGGTGGCGGTGGTCAGGCT
GCCGCTGGCCCACGGGAGCTTACTAATGATGAACCACCCGACCAACACGCACTGGTACCACAGT
CTTCCCGTGAGAAAGAAGGTTCTGGCTCCACGGGTGAATCTGACTTTTCGTAAAATTTTGCTTA
CTAAAAAATAAAAACATTTTTAACAGTT

hide sequence

RefSeq Acc Id:

NM_001145375 ⟹ NP_001138847

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	109,088,189 - 109,093,472 (-)	NCBI
GRCh37	12	109,525,993 - 109,531,436 (-)	NCBI
HuRef	12	106,544,162 - 106,549,711 (-)	ENTREZGENE
CHM1_1	12	109,493,646 - 109,498,943 (-)	NCBI
T2T-CHM13v2.0	12	109,063,001 - 109,068,284 (-)	NCBI

Sequence:

show sequence

GTCTTTCCCACCACGAGGCCACCAGGGTGACTGCGGGATTCCGATCTGCGCCGGAGCTGCGATG
CTAGAGCACTCTTGCCACCCCCACCCCACGGACGTGTTGCAGTGATATCAGAATTTTGCGATGG
ACAGATTCCTGGTGAAAGGGGCTCAAGGGGGCCTTTTGAGGAAGCAGGAGGAGCAAGAGCCAAC
TGGAGAAGAGCCAGCTGTGTTGGGAGGAGACAAAGAAAGCACAAGGAAGAGGCCCAGGAGAGAG
GCCCCAGGGAATGGAGGCCACTCAGCAGGCCCTAGCTGGCGGCACATTCGGGCTGAGGGCCTGG
ACTGCAGTTACACAGTCCTGTTTGGCAAAGCTGAGGCAGATGAGATTTTCCAAGAGTTGGAGAA
AGAAGTAGAATATTTTACAGGAGCACTGGCCAGAGTCCAGGTATTCGGGAAGTGGCACAGTGTG
CCCAGGAAGCAGGCAACGTATGGCGACGCTGGGCTGACCTACACATTTTCAGGCCTCACGCTGT
CTCCAAAGCCCTGGATCCCAGTTCTAGAGCGCATCCGGGATCACGTCTCTGGGGTGACTGGACA
GACCTTCAACTTTGTGCTCATCAACAGGTATAAAGATGGCTGTGACCACATCGGGGAGCACCGA
GATGATGAAAGAGAACTGGCCCCTGGGAGCCCCATTGCCTCTGTCTCCTTCGGTGCCTGCAGAG
ACTTTGTCTTCCGGCATAAGGATTCCCGTGGGAAAAGCCCCTCCAGGAGGGTGGCGGTGGTCAG
GCTGCCGCTGGCCCACGGGAGCTTACTAATGATGAACCACCCGACCAACACGCACTGGTACCAC
AGTCTTCCCGTGAGAAAGAAGGTTCTGGCTCCACGGGTGAATCTGACTTTTCGTAAAATTTTGC
TTACTAAAAAATAAAAACATTTTTAACAGTT

hide sequence

RefSeq Acc Id:

NM_001205179 ⟹ NP_001192108

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	109,088,189 - 109,093,472 (-)	NCBI
GRCh37	12	109,525,993 - 109,531,436 (-)	NCBI
HuRef	12	106,544,162 - 106,549,711 (-)	ENTREZGENE
CHM1_1	12	109,493,646 - 109,498,943 (-)	NCBI
T2T-CHM13v2.0	12	109,063,001 - 109,068,284 (-)	NCBI

Sequence:

show sequence

GTCTTTCCCACCACGAGGCCACCAGGGTGACTGCGGGATTCCGATCTGCGCCGGAGCTGCGATG
CTAGAGCACTCTTGCCACCCCCACCCCACGGACGTGTTGCAGTGATATCAGAATTTTGCGACAT
GGTTTTAAACTTTAAAATGAAAATGTGAAACTAGGAATGTTGCTGTGAGACCCCTTGGACAAAC
AGATTTTTGCACTGGGGATAGAACTTGAGCAATTTCTGTCTTGGCCTCGCCACTGACGTCCCTT
CTTTCCTGTGGGGACAGGATGGACAGATTCCTGGTGAAAGGGGCTCAAGGGGGCCTTTTGAGGA
AGCAGGAGGAGCAAGAGCCAACTGGAGAAGAGCCAGCTGTGTTGGGAGGAGACAAAGAAAGCAC
AAGGAAGAGGCCCAGGAGAGAGGCCCCAGGGAATGGAGGCCACTCAGCAGGCCCTAGCTGGCGG
CACATTCGGGCTGAGGGCCTGGACTGCAGTTACACAGTCCTGTTTGGCAAAGCTGAGGCAGATG
AGATTTTCCAAGAGTTGGAGAAAGAAGTAGAATATTTTACAGGTATAAAGATGGCTGTGACCAC
ATCGGGGAGCACCGAGATGATGAAAGAGAACTGGCCCCTGGGAGCCCCATTGCCTCTGTCTCCT
TCGGTGCCTGCAGAGACTTTGTCTTCCGGCATAAGGATTCCCGTGGGAAAAGCCCCTCCAGGAG
GGTGGCGGTGGTCAGGCTGCCGCTGGCCCACGGGAGCTTACTAATGATGAACCACCCGACCAAC
ACGCACTGGTACCACAGTCTTCCCGTGAGAAAGAAGGTTCTGGCTCCACGGGTGAATCTGACTT
TTCGTAAAATTTTGCTTACTAAAAAATAAAAACATTTTTAACAGTT

hide sequence

RefSeq Acc Id:

NM_001205180 ⟹ NP_001192109

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	109,088,189 - 109,093,472 (-)	NCBI
GRCh37	12	109,525,993 - 109,531,436 (-)	NCBI
HuRef	12	106,544,162 - 106,549,711 (-)	ENTREZGENE
CHM1_1	12	109,493,646 - 109,498,943 (-)	NCBI
T2T-CHM13v2.0	12	109,063,001 - 109,068,284 (-)	NCBI

Sequence:

show sequence

GTCTTTCCCACCACGAGGCCACCAGGGTGACTGCGGGATTCCGATCTGCGCCGGAGCTGCGATG
CTAGAGCACTCTTGCCACCCCCACCCCACGGACGTGTTGCAGTGATATCAGAATTTTGCGTGCG
GTTTACCCGTGTTTAACCTCTTTGCGTCTCGCTTCTGAATCGTATCCACTTGAGCATCACTAGA
CTGATCTATTTTAACACTGGTGGGGGGCAGCGAGGATGGACAGATTCCTGGTGAAAGGGGCTCA
AGGGGGCCTTTTGAGGAAGCAGGAGGAGCAAGAGCCAACTGGAGAAGAGCCAGCTGTGTTGGGA
GGAGACAAAGAAAGCACAAGGAAGAGGCCCAGGAGAGAGGCCCCAGGGAATGGAGGCCACTCAG
CAGGCCCTAGCTGGCGGCACATTCGGGCTGAGGGCCTGGACTGCAGTTACACAGTCCTGTTTGG
CAAAGCTGAGGCAGATGAGATTTTCCAAGAGTTGGAGAAAGAAGTAGAATATTTTACAGGTATA
AAGATGGCTGTGACCACATCGGGGAGCACCGAGATGATGAAAGAGAACTGGCCCCTGGGAGCCC
CATTGCCTCTGTCTCCTTCGGTGCCTGCAGAGACTTTGTCTTCCGGCATAAGGATTCCCGTGGG
AAAAGCCCCTCCAGGAGGGTGGCGGTGGTCAGGCTGCCGCTGGCCCACGGGAGCTTACTAATGA
TGAACCACCCGACCAACACGCACTGGTACCACAGTCTTCCCGTGAGAAAGAAGGTTCTGGCTCC
ACGGGTGAATCTGACTTTTCGTAAAATTTTGCTTACTAAAAAATAAAAACATTTTTAACAGTT

hide sequence

RefSeq Acc Id:

XM_005253835 ⟹ XP_005253892

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	109,088,189 - 109,093,472 (-)	NCBI
GRCh37	12	109,525,993 - 109,531,436 (-)	NCBI

Sequence:

show sequence

AAAGCGGCAGTGCTTGCCACACACGGGAGGCCAGCAGGTGGCACCAGGGGGCCGCCCGGCTGCT
CTCTTTGCGCCCTAGCCTGCCGTAGTTCCCAGCGTGCTCCGGAAGTGACGCGACCGATTCGCTG
GGGCGCGTCTTTCCCACCACGAGGCCACCAGGGTGACTGCGGGATTCCGATCTGCGCCGGAGCT
GCGATGCTAGAGCACTCTTGCCACCCCCACCCCACGGACGTGTTGCAGTGATATCAGAATTTTG
CGACATGGTTTTAAACTTTAAAATGAAAATGTGAAACTAGGAATGTTGCTGTGAGACCCCTTGG
ACAAACAGATTTTTGCACTGGGGATAGAACTTGAGCAATTTCTGTCTTGGCCTCGCCACTGACG
TCCCTTCTTTCCTGTGGGGACAGGATGGACAGATTCCTGGTGAAAGGGGCTCAAGGGGGCCTTT
TGAGGAAGCAGGAGGAGCAAGAGCCAACTGGAGAAGAGCCAGCTGTGTTGGGAGGAGACAAAGA
AAGCACAAGGAAGAGGCCCAGGAGAGAGGCCCCAGGGAATGGAGGCCACTCAGCAGGCCCTAGC
TGGCGGCACATTCGGGCTGAGGGCCTGGACTGCAGTTACACAGTCCTGTTTGGCAAAGCTGAGG
CAGATGAGATTTTCCAAGAGTTGGAGAAAGAAGTAGAATATTTTACAGGAGCACTGGCCAGAGT
CCAGGTATTCGGGAAGTGGCACAGTGTGCCCAGGAAGCAGGCAACGTATGGCGACGCTGGGCTG
ACCTACACATTTTCAGGCCTCACGCTGTCTCCAAAGCCCTGGATCCCAGTTCTAGAGCGCATCC
GGGATCACGTCTCTGGGGTGACTGGACAGACCTTCAACTTTGTGCTCATCAACAGGTATAAAGA
TGGCTGTGACCACATCGGGGAGCACCGAGATGATGAAAGAGAACTGGCCCCTGGGAGCCCCATT
GCCTCTGTCTCCTTCGGTGCCTGCAGAGACTTTGTCTTCCGGCATAAGGATTCCCGTGGGAAAA
GCCCCTCCAGGAGGGTGGCGGTGGTCAGGCTGCCGCTGGCCCACGGGAGCTTACTAATGATGAA
CCACCCGACCAACACGCACTGGTACCACAGTCTTCCCGTGAGAAAGAAGGTTCTGGCTCCACGG
GTGAATCTGACTTTTCGTAAAATTTTGCTTACTAAAAAATAAAAACATTTTTAACAGTT

hide sequence

RefSeq Acc Id:

XM_005253836 ⟹ XP_005253893

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	109,088,189 - 109,093,472 (-)	NCBI
GRCh37	12	109,525,993 - 109,531,436 (-)	NCBI

Sequence:

show sequence

AGTGGCCCAACAGGTGATCAACGGGAAAGCGGCAGTGCTTGCCACACACGGGAGGCCAGCAGGT
GGCACCAGGGGGCCGCCCGGCTGCTCTCTTTGCGCCCTAGCCTGCCGTAGTTCCCAGCGTGCTC
CGGAAGTGACGCGACCGATTCGCTGGGGCGCGTCTTTCCCACCACGAGGCCACCAGGGTGACTG
CGGGATTCCGATCTGCGCCGGAGCTGCGATGCTAGAGCACTCTTGCCACCCCCACCCCACGGAC
GTGTTGCAGTGATATCAGAATTTTGCGTGCGGTTTACCCGTGTTTAACCTCTTTGCGTCTCGCT
TCTGAATCGTATCCACTTGAGCATCACTAGACTGATCTATTTTAACACTGGTGGGGGGCAGCGA
GGACATGGTTTTAAACTTTAAAATGAAAATGTGAAACTAGGAATGTTGCTGTGAGACCCCTTGG
ACAAACAGATTTTTGCACTGGGGATAGAACTTGAGCAATTTCTGTCTTGGCCTCGCCACTGACG
TCCCTTCTTTCCTGTGGGGACAGGATGGACAGATTCCTGGTGAAAGGGGCTCAAGGGGGCCTTT
TGAGGAAGCAGGAGGAGCAAGAGCCAACTGGAGAAGAGCCAGCTGTGTTGGGAGGAGACAAAGA
AAGCACAAGGAAGAGGCCCAGGAGAGAGGCCCCAGGGAATGGAGGCCACTCAGCAGGCCCTAGC
TGGCGGCACATTCGGGCTGAGGGCCTGGACTGCAGTTACACAGTCCTGTTTGGCAAAGCTGAGG
CAGATGAGATTTTCCAAGAGTTGGAGAAAGAAGTAGAATATTTTACAGGTATAAAGATGGCTGT
GACCACATCGGGGAGCACCGAGATGATGAAAGAGAACTGGCCCCTGGGAGCCCCATTGCCTCTG
TCTCCTTCGGTGCCTGCAGAGACTTTGTCTTCCGGCATAAGGATTCCCGTGGGAAAAGCCCCTC
CAGGAGGGTGGCGGTGGTCAGGCTGCCGCTGGCCCACGGGAGCTTACTAATGATGAACCACCCG
ACCAACACGCACTGGTACCACAGTCTTCCCGTGAGAAAGAAGGTTCTGGCTCCACGGGTGAATC
TGACTTTTCGTAAAATTTTGCTTACTAAAAAATAAAAACATTTTTAACAGTT

hide sequence

RefSeq Acc Id:

XM_047428309 ⟹ XP_047284265

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	109,088,189 - 109,093,472 (-)	NCBI

RefSeq Acc Id:

XM_054371118 ⟹ XP_054227093

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	109,063,001 - 109,068,284 (-)	NCBI

RefSeq Acc Id:

XM_054371119 ⟹ XP_054227094

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	109,063,001 - 109,068,284 (-)	NCBI

RefSeq Acc Id:

XM_054371120 ⟹ XP_054227095

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	109,063,001 - 109,068,284 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001001655	(Get FASTA)	NCBI Sequence Viewer
	NP_001138846	(Get FASTA)	NCBI Sequence Viewer
	NP_001138847	(Get FASTA)	NCBI Sequence Viewer
	NP_001192108	(Get FASTA)	NCBI Sequence Viewer
	NP_001192109	(Get FASTA)	NCBI Sequence Viewer
	XP_005253892	(Get FASTA)	NCBI Sequence Viewer
	XP_005253893	(Get FASTA)	NCBI Sequence Viewer
	XP_047284265	(Get FASTA)	NCBI Sequence Viewer
	XP_054227093	(Get FASTA)	NCBI Sequence Viewer
	XP_054227094	(Get FASTA)	NCBI Sequence Viewer
	XP_054227095	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH70489	(Get FASTA)	NCBI Sequence Viewer
	AAV28301	(Get FASTA)	NCBI Sequence Viewer
	BAF56576	(Get FASTA)	NCBI Sequence Viewer
	CAG17897	(Get FASTA)	NCBI Sequence Viewer
	CCQ43124	(Get FASTA)	NCBI Sequence Viewer
	EAW97845	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000343021
	ENSP00000343021.3
	ENSP00000398181
	ENSP00000398181.1
	ENSP00000399820
	ENSP00000399820.2
	ENSP00000443042.1
	ENSP00000444103.1
	ENSP00000474702.1
	ENSP00000478765
	ENSP00000478765.1
GenBank Protein	Q6NS38	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001138847 ⟸ NM_001145375
- Peptide Label:	isoform 1
- UniProtKB:	A4PET2 (UniProtKB/Swiss-Prot), Q5XLE3 (UniProtKB/Swiss-Prot), Q6NS38 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MDRFLVKGAQGGLLRKQEEQEPTGEEPAVLGGDKESTRKRPRREAPGNGGHSAGPSWRHIRAEG LDCSYTVLFGKAEADEIFQELEKEVEYFTGALARVQVFGKWHSVPRKQATYGDAGLTYTFSGLT LSPKPWIPVLERIRDHVSGVTGQTFNFVLINRYKDGCDHIGEHRDDERELAPGSPIASVSFGAC RDFVFRHKDSRGKSPSRRVAVVRLPLAHGSLLMMNHPTNTHWYHSLPVRKKVLAPRVNLTFRKI LLTKK hide sequence

RefSeq Acc Id:	NP_001192108 ⟸ NM_001205179
- Peptide Label:	isoform 2
- UniProtKB:	Q6NS38 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MDRFLVKGAQGGLLRKQEEQEPTGEEPAVLGGDKESTRKRPRREAPGNGGHSAGPSWRHIRAEG LDCSYTVLFGKAEADEIFQELEKEVEYFTGIKMAVTTSGSTEMMKENWPLGAPLPLSPSVPAET LSSGIRIPVGKAPPGGWRWSGCRWPTGAY hide sequence

RefSeq Acc Id:	NP_001192109 ⟸ NM_001205180
- Peptide Label:	isoform 2
- UniProtKB:	Q6NS38 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MDRFLVKGAQGGLLRKQEEQEPTGEEPAVLGGDKESTRKRPRREAPGNGGHSAGPSWRHIRAEG LDCSYTVLFGKAEADEIFQELEKEVEYFTGIKMAVTTSGSTEMMKENWPLGAPLPLSPSVPAET LSSGIRIPVGKAPPGGWRWSGCRWPTGAY hide sequence

RefSeq Acc Id:	NP_001001655 ⟸ NM_001001655
- Peptide Label:	isoform 1
- UniProtKB:	A4PET2 (UniProtKB/Swiss-Prot), Q5XLE3 (UniProtKB/Swiss-Prot), Q6NS38 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MDRFLVKGAQGGLLRKQEEQEPTGEEPAVLGGDKESTRKRPRREAPGNGGHSAGPSWRHIRAEG LDCSYTVLFGKAEADEIFQELEKEVEYFTGALARVQVFGKWHSVPRKQATYGDAGLTYTFSGLT LSPKPWIPVLERIRDHVSGVTGQTFNFVLINRYKDGCDHIGEHRDDERELAPGSPIASVSFGAC RDFVFRHKDSRGKSPSRRVAVVRLPLAHGSLLMMNHPTNTHWYHSLPVRKKVLAPRVNLTFRKI LLTKK hide sequence

RefSeq Acc Id:	NP_001138846 ⟸ NM_001145374
- Peptide Label:	isoform 1
- UniProtKB:	A4PET2 (UniProtKB/Swiss-Prot), Q5XLE3 (UniProtKB/Swiss-Prot), Q6NS38 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MDRFLVKGAQGGLLRKQEEQEPTGEEPAVLGGDKESTRKRPRREAPGNGGHSAGPSWRHIRAEG LDCSYTVLFGKAEADEIFQELEKEVEYFTGALARVQVFGKWHSVPRKQATYGDAGLTYTFSGLT LSPKPWIPVLERIRDHVSGVTGQTFNFVLINRYKDGCDHIGEHRDDERELAPGSPIASVSFGAC RDFVFRHKDSRGKSPSRRVAVVRLPLAHGSLLMMNHPTNTHWYHSLPVRKKVLAPRVNLTFRKI LLTKK hide sequence

RefSeq Acc Id:	XP_005253893 ⟸ XM_005253836
- Peptide Label:	isoform X2
- UniProtKB:	Q6NS38 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MDRFLVKGAQGGLLRKQEEQEPTGEEPAVLGGDKESTRKRPRREAPGNGGHSAGPSWRHIRAEG LDCSYTVLFGKAEADEIFQELEKEVEYFTGIKMAVTTSGSTEMMKENWPLGAPLPLSPSVPAET LSSGIRIPVGKAPPGGWRWSGCRWPTGAY hide sequence

RefSeq Acc Id:	XP_005253892 ⟸ XM_005253835
- Peptide Label:	isoform X1
- UniProtKB:	A4PET2 (UniProtKB/Swiss-Prot), Q5XLE3 (UniProtKB/Swiss-Prot), Q6NS38 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MDRFLVKGAQGGLLRKQEEQEPTGEEPAVLGGDKESTRKRPRREAPGNGGHSAGPSWRHIRAEG LDCSYTVLFGKAEADEIFQELEKEVEYFTGALARVQVFGKWHSVPRKQATYGDAGLTYTFSGLT LSPKPWIPVLERIRDHVSGVTGQTFNFVLINRYKDGCDHIGEHRDDERELAPGSPIASVSFGAC RDFVFRHKDSRGKSPSRRVAVVRLPLAHGSLLMMNHPTNTHWYHSLPVRKKVLAPRVNLTFRKI LLTKK hide sequence

Ensembl Acc Id:

ENSP00000474702 ⟸ ENST00000543444

Ensembl Acc Id:

ENSP00000398181 ⟸ ENST00000429722

Ensembl Acc Id:

ENSP00000399820 ⟸ ENST00000440112

Ensembl Acc Id:

ENSP00000444103 ⟸ ENST00000536358

Ensembl Acc Id:

ENSP00000443042 ⟸ ENST00000536242

Ensembl Acc Id:

ENSP00000478765 ⟸ ENST00000619381

Ensembl Acc Id:

ENSP00000343021 ⟸ ENST00000343075

RefSeq Acc Id:	XP_047284265 ⟸ XM_047428309
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054227095 ⟸ XM_054371120
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054227093 ⟸ XM_054371118
- Peptide Label:	isoform X1
- UniProtKB:	Q6NS38 (UniProtKB/Swiss-Prot), A4PET2 (UniProtKB/Swiss-Prot), Q5XLE3 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054227094 ⟸ XM_054371119
- Peptide Label:	isoform X2

Protein Domains

Fe2OG dioxygenase

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q6NS38-F1-model_v2	AlphaFold	Q6NS38	1-261	view protein structure

Promoters

RGD ID:

6789642

Promoter ID:

HG_KWN:16597

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

NM_001001655, NM_001145374, NM_001145375, NR_026930, NR_026931, UC001TNX.1, UC009ZVD.1, UC009ZVE.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	12	108,015,386 - 108,015,886 (-)	MPROMDB

RGD ID:

7225329

Promoter ID:

EPDNEW_H18410

Type:

initiation region

Name:

ALKBH2_1

Description:

alkB homolog 2, alpha-ketoglutarate dependent dioxygenase

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H18413

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	109,093,472 - 109,093,532	EPDNEW

RGD ID:

7225335

Promoter ID:

EPDNEW_H18413

Type:

initiation region

Name:

ALKBH2_2

Description:

alkB homolog 2, alpha-ketoglutarate dependent dioxygenase

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H18410

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	109,098,502 - 109,098,562	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:32487	AgrOrtholog
COSMIC	ALKBH2	COSMIC
Ensembl Genes	ENSG00000189046	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000343075	ENTREZGENE
	ENST00000343075.7	UniProtKB/Swiss-Prot
	ENST00000429722	ENTREZGENE
	ENST00000429722.3	UniProtKB/Swiss-Prot
	ENST00000440112	ENTREZGENE
	ENST00000440112.2	UniProtKB/Swiss-Prot
	ENST00000536242.1	UniProtKB/TrEMBL
	ENST00000536358.1	UniProtKB/TrEMBL
	ENST00000543444.1	UniProtKB/TrEMBL
	ENST00000619381	ENTREZGENE
	ENST00000619381.4	UniProtKB/Swiss-Prot
Gene3D-CATH	2.60.120.590	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000189046	GTEx
HGNC ID	HGNC:32487	ENTREZGENE
Human Proteome Map	ALKBH2	Human Proteome Map
InterPro	AlkB-like	UniProtKB/Swiss-Prot
	AlkB-like_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ALKBH2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Oxoglu/Fe-dep_dioxygenase	UniProtKB/Swiss-Prot
KEGG Report	hsa:121642	UniProtKB/Swiss-Prot
NCBI Gene	121642	ENTREZGENE
OMIM	610602	OMIM
PANTHER	DNA OXIDATIVE DEMETHYLASE ALKBH2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR31573	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	2OG-FeII_Oxy_2	UniProtKB/Swiss-Prot
PharmGKB	PA143485292	PharmGKB
PROSITE	FE2OG_OXY	UniProtKB/Swiss-Prot
Superfamily-SCOP	Clavaminate synthase-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A4PET2	ENTREZGENE
	ALKB2_HUMAN	UniProtKB/Swiss-Prot
	F5GZZ0_HUMAN	UniProtKB/TrEMBL
	F5H5X2_HUMAN	UniProtKB/TrEMBL
	L8E7L5_HUMAN	UniProtKB/TrEMBL
	Q5XLE3	ENTREZGENE
	Q6NS38	ENTREZGENE
	S4R3T5_HUMAN	UniProtKB/TrEMBL
UniProt Secondary	A4PET2	UniProtKB/Swiss-Prot
	Q5XLE3	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-06-21	ALKBH2	alkB homolog 2, alpha-ketoglutarate dependent dioxygenase	ALKBH2	alkB homolog 2, alpha-ketoglutarate-dependent dioxygenase	Symbol and/or name change	5135510	APPROVED
2015-06-30	ALKBH2	alkB homolog 2, alpha-ketoglutarate-dependent dioxygenase	ALKBH2	alkB, alkylation repair homolog 2 (E. coli)	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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