SLC39A12 (solute carrier family 39 member 12)

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Gene: SLC39A12 (solute carrier family 39 member 12) Homo sapiens

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Symbol:

SLC39A12

Name:

solute carrier family 39 member 12

RGD ID:

1319582

HGNC Page

HGNC:20860

Description:

Predicted to enable monoatomic cation:bicarbonate symporter activity and zinc ion transmembrane transporter activity. Predicted to be involved in intracellular monoatomic cation homeostasis; nervous system development; and zinc ion import across plasma membrane. Predicted to act upstream of or within regulation of microtubule polymerization; regulation of neuron projection development; and signal transduction. Located in extracellular vesicle.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

bA570F3.1; FLJ30499; LIV-1 subfamily of ZIP zinc transporter 8; LZT-Hs8; MGC43205; MGC51099; solute carrier family 39 (metal ion transporter), member 12; solute carrier family 39 (zinc transporter), member 12; zinc transporter 12; zinc transporter ZIP12; ZIP-12; ZIP12; zrt- and Irt-like protein 12; ZRT/IRT-like protein 12

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	10	17,951,918 - 18,043,285 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	10	17,951,839 - 18,043,292 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	10	18,240,847 - 18,332,214 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	10	18,280,827 - 18,372,218 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	10	18,280,826 - 18,372,218	NCBI
Celera	10	17,927,289 - 18,018,644 (+)	NCBI		Celera
Cytogenetic Map	10	p12.33	NCBI
HuRef	10	17,906,828 - 17,997,600 (+)	NCBI		HuRef
CHM1_1	10	18,240,775 - 18,332,234 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	10	17,971,349 - 18,062,603 (+)	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

hypoparathyroidism-deafness-renal disease syndrome (IAGP)

Imerslund-Grasbeck Syndrome (IAGP)

melanoma (EXP)

Pulmonary Hypertension, Hypoxia-Induced (ISO)

Right Ventricular Hypertrophy (ISO)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dichloroethane (ISO)

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

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

4,4'-sulfonyldiphenol (ISO)

antirheumatic drug (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (ISO)

bisphenol F (ISO)

CGP 52608 (EXP)

copper atom (ISO)

copper(0) (ISO)

epoxiconazole (ISO)

ethanol (ISO)

ketamine (ISO)

lead diacetate (ISO)

lidocaine (ISO)

methamphetamine (ISO)

SCH 23390 (ISO)

sodium arsenite (ISO)

valproic acid (ISO)

zinc atom (EXP)

zinc(0) (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

bicarbonate transport (IEA)

intracellular monoatomic cation homeostasis (IBA)

metal ion transport (IEA)

neural tube formation (ISS)

neuron projection extension (ISS)

positive regulation of sprouting angiogenesis (IEA,ISO)

regulation of microtubule polymerization (IEA,ISO)

regulation of neuron projection development (IEA,ISO)

response to decreased oxygen levels (IEA,ISO)

signal transduction (IEA,ISO)

transmembrane transport (IEA)

zinc ion import across plasma membrane (IBA,IEA,ISO,ISS)

zinc ion transport (IEA)

Cellular Component

extracellular vesicle (HDA)

membrane (IEA)

perinuclear region of cytoplasm (IEA)

plasma membrane (IBA,IEA)

Molecular Function

metal ion transmembrane transporter activity (IEA)

monoatomic cation:bicarbonate symporter activity (IBA)

zinc ion transmembrane transporter activity (IBA,IEA,ISS)

References

References - curated

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
3.	The zinc transporter ZIP12 regulates the pulmonary vascular response to chronic hypoxia.	Zhao L, etal., Nature. 2015 Aug 20;524(7565):356-60. doi: 10.1038/nature14620. Epub 2015 Aug 10.

Additional References at PubMed

PMID:10737800	PMID:12477932	PMID:12659941	PMID:14702039	PMID:16311021	PMID:16385451	PMID:19064571	PMID:20379614	PMID:21873635	PMID:23716681	PMID:24769233	PMID:28514442
PMID:32716562	PMID:33961781

Genomics

Comparative Map Data

SLC39A12
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	10	17,951,918 - 18,043,285 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	10	17,951,839 - 18,043,292 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	10	18,240,847 - 18,332,214 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	10	18,280,827 - 18,372,218 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	10	18,280,826 - 18,372,218	NCBI
Celera	10	17,927,289 - 18,018,644 (+)	NCBI		Celera
Cytogenetic Map	10	p12.33	NCBI
HuRef	10	17,906,828 - 17,997,600 (+)	NCBI		HuRef
CHM1_1	10	18,240,775 - 18,332,234 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	10	17,971,349 - 18,062,603 (+)	NCBI		T2T-CHM13v2.0

Slc39a12
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	14,345,476 - 14,499,787 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	14,393,127 - 14,499,788 (+)	Ensembl		GRCm39 Ensembl
GRCm38	2	14,388,316 - 14,494,977 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	14,388,316 - 14,494,977 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	14,310,025 - 14,416,604 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	14,306,158 - 14,412,731 (+)	NCBI		MGSCv36	mm8
Celera	2	14,289,501 - 14,395,951 (+)	NCBI		Celera
Cytogenetic Map	2	A2	NCBI
cM Map	2	10.56	NCBI

Slc39a12
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	17	82,262,303 - 82,348,974 (+)	NCBI		GRCr8
mRatBN7.2	17	77,353,761 - 77,440,384 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	17	77,353,805 - 77,440,353 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	17	80,811,544 - 80,890,227 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	17	84,646,963 - 84,725,647 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	17	78,694,864 - 78,773,553 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	17	81,455,731 - 81,541,742 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	17	81,455,955 - 81,541,759 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	17	83,202,775 - 83,288,616 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	17	88,525,527 - 88,605,947 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	17	88,513,119 - 88,616,376 (+)	NCBI
Celera	17	76,696,501 - 76,773,017 (+)	NCBI		Celera
Cytogenetic Map	17	q12.3	NCBI

Slc39a12
(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_004955429	10,052,968 - 10,116,727 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955429	10,053,022 - 10,116,713 (-)	NCBI	ChiLan1.0	ChiLan1.0

SLC39A12
(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	8	30,795,318 - 30,888,370 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	10	30,800,639 - 30,893,691 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	10	18,270,652 - 18,362,558 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	10	18,540,473 - 18,699,305 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	10	18,541,859 - 18,698,851 (+)	Ensembl	panpan1.1		panPan2

SLC39A12
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	2	18,991,734 - 19,064,899 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	2	18,992,031 - 19,063,647 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	2	16,093,351 - 16,166,440 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	2	19,282,840 - 19,356,413 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	2	19,282,864 - 19,356,389 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	2	16,483,812 - 16,557,251 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	2	17,319,092 - 17,392,530 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	2	17,939,269 - 18,012,769 (-)	NCBI		UU_Cfam_GSD_1.0

Slc39a12
(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_024409344	18,515,301 - 18,580,210 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936520	9,380,650 - 9,444,152 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936520	9,380,723 - 9,444,146 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SLC39A12
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	10	44,239,274 - 44,320,971 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	10	44,239,279 - 44,320,974 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	10	48,973,496 - 49,055,241 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SLC39A12
(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	9	17,887,821 - 17,970,593 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	9	17,888,748 - 17,970,580 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666051	23,536,156 - 23,618,931 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Slc39a12
(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_004624796	9,940,176 - 10,008,234 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624796	9,940,228 - 10,008,526 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in SLC39A12
42 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	copy number gain	See cases [RCV000053507]	Chr10:69261..19184047 [GRCh38] Chr10:224406..19472976 [GRCh37] Chr10:105201..19512982 [NCBI36] Chr10:10p15.3-12.31	pathogenic
GRCh38/hg38 10p15.3-12.2(chr10:90221-22567425)x3	copy number gain	See cases [RCV000053508]	Chr10:90221..22567425 [GRCh38] Chr10:224406..22856354 [GRCh37] Chr10:126161..22896360 [NCBI36] Chr10:10p15.3-12.2	pathogenic
GRCh38/hg38 10p15.3-12.1(chr10:90421-29058318)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]\|See cases [RCV000053512]	Chr10:90421..29058318 [GRCh38] Chr10:224406..29347247 [GRCh37] Chr10:126361..29387253 [NCBI36] Chr10:10p15.3-12.1	pathogenic
NM_001145195.1(SLC39A12):c.1060G>A (p.Asp354Asn)	single nucleotide variant	Malignant melanoma [RCV000068878]	Chr10:17981447 [GRCh38] Chr10:18270376 [GRCh37] Chr10:18310382 [NCBI36] Chr10:10p12.33	not provided
GRCh37/hg19 10p12.33(chr10:17809523-18273895)x3	copy number gain	See cases [RCV000135124]	Chr10:17809523..18273895 [GRCh37] Chr10:17849529..18313901 [NCBI36] Chr10:10p12.33	benign
GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	copy number loss	See cases [RCV000137307]	Chr10:7428770..21587752 [GRCh38] Chr10:7470732..21876681 [GRCh37] Chr10:7510738..21916687 [NCBI36] Chr10:10p14-12.31	pathogenic\|uncertain significance
GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	copy number gain	See cases [RCV000138428]	Chr10:90205..26339978 [GRCh38] Chr10:224406..26628907 [GRCh37] Chr10:126145..26668913 [NCBI36] Chr10:10p15.3-12.1	pathogenic
GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	copy number gain	See cases [RCV000141497]	Chr10:4604734..48074662 [GRCh38] Chr10:4646926..47531169 [GRCh37] Chr10:4636926..47125152 [NCBI36] Chr10:10p15.1-q11.22	benign
GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	copy number loss	See cases [RCV000143703]	Chr10:54086..19336980 [GRCh38] Chr10:100026..19625909 [GRCh37] Chr10:90026..19665915 [NCBI36] Chr10:10p15.3-12.31	pathogenic\|likely pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	copy number loss	Distal 10q deletion syndrome [RCV003319583]	Chr10:12829206..135427143 [GRCh37] Chr10:10p13-q26.3	pathogenic
GRCh37/hg19 10p15.3-11.23(chr10:100026-30278548)x3	copy number gain	See cases [RCV000447131]	Chr10:100026..30278548 [GRCh37] Chr10:10p15.3-11.23	pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	copy number gain	See cases [RCV000448750]	Chr10:93297..135378918 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
GRCh37/hg19 10p13-12.31(chr10:15966534-19063585)x1	copy number loss	See cases [RCV000510639]	Chr10:15966534..19063585 [GRCh37] Chr10:10p13-12.31	uncertain significance
GRCh37/hg19 10p13-12.31(chr10:16624071-19846248)x3	copy number gain	See cases [RCV000511935]	Chr10:16624071..19846248 [GRCh37] Chr10:10p13-12.31	uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	copy number gain	See cases [RCV000511389]	Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3	pathogenic\|uncertain significance
GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	copy number gain	See cases [RCV000510893]	Chr10:100026..50961640 [GRCh37] Chr10:10p15.3-q11.23	pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	copy number gain	See cases [RCV000510861]	Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
GRCh37/hg19 10p12.33-12.31(chr10:17766249-18867108)x3	copy number gain	not provided [RCV000683253]	Chr10:17766249..18867108 [GRCh37] Chr10:10p12.33-12.31	uncertain significance
Single allele	deletion	Hypoparathyroidism, deafness, renal disease syndrome [RCV000735901]	Chr10:4689760..19120882 [GRCh37] Chr10:10p15.1-12.31	pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3	copy number gain	not provided [RCV000749465]	Chr10:98087..135477883 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3	copy number gain	not provided [RCV000749464]	Chr10:73232..135524321 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
NM_001145195.2(SLC39A12):c.262-7del	deletion	not provided [RCV000949761]	Chr10:17961573 [GRCh38] Chr10:18250502 [GRCh37] Chr10:10p12.33	benign
NM_001145195.2(SLC39A12):c.994G>A (p.Asp332Asn)	single nucleotide variant	not provided [RCV000962399]	Chr10:17981381 [GRCh38] Chr10:18270310 [GRCh37] Chr10:10p12.33	benign
NM_001145195.2(SLC39A12):c.1141T>C (p.Ser381Pro)	single nucleotide variant	not specified [RCV004307436]	Chr10:17987523 [GRCh38] Chr10:18276452 [GRCh37] Chr10:10p12.33	uncertain significance
NM_001145195.2(SLC39A12):c.1364T>A (p.Ile455Asn)	single nucleotide variant	not specified [RCV004284168]	Chr10:17991245 [GRCh38] Chr10:18280174 [GRCh37] Chr10:10p12.33	uncertain significance
NM_001145195.2(SLC39A12):c.763C>G (p.Leu255Val)	single nucleotide variant	not specified [RCV004283850]	Chr10:17977913 [GRCh38] Chr10:18266842 [GRCh37] Chr10:10p12.33	uncertain significance
NM_001145195.2(SLC39A12):c.1225G>A (p.Val409Ile)	single nucleotide variant	not specified [RCV004295603]	Chr10:17987607 [GRCh38] Chr10:18276536 [GRCh37] Chr10:10p12.33	uncertain significance
NM_001145195.2(SLC39A12):c.1270-6dup	duplication	not provided [RCV000948832]	Chr10:17991141..17991142 [GRCh38] Chr10:18280070..18280071 [GRCh37] Chr10:10p12.33	benign
GRCh37/hg19 10p12.33(chr10:18313841-18388434)x1	copy number loss	not provided [RCV001259543]	Chr10:18313841..18388434 [GRCh37] Chr10:10p12.33	uncertain significance
NM_001145195.2(SLC39A12):c.857A>T (p.Gln286Leu)	single nucleotide variant	not specified [RCV004683733]	Chr10:17978007 [GRCh38] Chr10:18266936 [GRCh37] Chr10:10p12.33	uncertain significance
GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	copy number gain	not specified [RCV002052863]	Chr10:6273934..34732521 [GRCh37] Chr10:10p15.1-11.21	pathogenic
GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	copy number gain	Mosaic supernumerary isodicentric chromosome 10 [RCV001825164]	Chr10:135655..47688677 [GRCh37] Chr10:10p15.3-q11.22	not provided
NC_000010.10:g.(?_16866974)_(18828653_?)dup	duplication	Imerslund-Grasbeck syndrome [RCV001916289]\|not provided [RCV003120746]	Chr10:16866974..18828653 [GRCh37] Chr10:10p13-12.31	uncertain significance\|no classifications from unflagged records
NM_001145195.2(SLC39A12):c.79G>T (p.Asp27Tyr)	single nucleotide variant	not specified [RCV004683734]	Chr10:17953355 [GRCh38] Chr10:18242284 [GRCh37] Chr10:10p12.33	uncertain significance
GRCh37/hg19 10p12.33(chr10:17376968-18486923)x3	copy number gain	not provided [RCV002474623]	Chr10:17376968..18486923 [GRCh37] Chr10:10p12.33	uncertain significance
NM_001145195.2(SLC39A12):c.1380G>C (p.Leu460Phe)	single nucleotide variant	not specified [RCV004183221]	Chr10:17991261 [GRCh38] Chr10:18280190 [GRCh37] Chr10:10p12.33	uncertain significance
NM_001145195.2(SLC39A12):c.10C>T (p.Arg4Trp)	single nucleotide variant	not specified [RCV004246951]	Chr10:17953286 [GRCh38] Chr10:18242215 [GRCh37] Chr10:10p12.33	likely benign
NM_001145195.2(SLC39A12):c.166C>T (p.Pro56Ser)	single nucleotide variant	not specified [RCV004207708]	Chr10:17953442 [GRCh38] Chr10:18242371 [GRCh37] Chr10:10p12.33	uncertain significance
NM_001145195.2(SLC39A12):c.195C>G (p.Ile65Met)	single nucleotide variant	not specified [RCV004118573]	Chr10:17953471 [GRCh38] Chr10:18242400 [GRCh37] Chr10:10p12.33	uncertain significance
NM_001145195.2(SLC39A12):c.697T>C (p.Phe233Leu)	single nucleotide variant	not specified [RCV004200474]	Chr10:17965636 [GRCh38] Chr10:18254565 [GRCh37] Chr10:10p12.33	uncertain significance
NM_001145195.2(SLC39A12):c.1108A>G (p.Ser370Gly)	single nucleotide variant	not specified [RCV004075944]	Chr10:17987490 [GRCh38] Chr10:18276419 [GRCh37] Chr10:10p12.33	uncertain significance
NM_001145195.2(SLC39A12):c.1327G>C (p.Gly443Arg)	single nucleotide variant	not specified [RCV004131322]	Chr10:17991208 [GRCh38] Chr10:18280137 [GRCh37] Chr10:10p12.33	uncertain significance
NM_001145195.2(SLC39A12):c.128C>T (p.Pro43Leu)	single nucleotide variant	not specified [RCV004123296]	Chr10:17953404 [GRCh38] Chr10:18242333 [GRCh37] Chr10:10p12.33	likely benign
NM_001145195.2(SLC39A12):c.671A>C (p.Gln224Pro)	single nucleotide variant	not specified [RCV004152972]	Chr10:17965610 [GRCh38] Chr10:18254539 [GRCh37] Chr10:10p12.33	uncertain significance
NM_001145195.2(SLC39A12):c.1319A>G (p.Glu440Gly)	single nucleotide variant	not specified [RCV004148315]	Chr10:17991200 [GRCh38] Chr10:18280129 [GRCh37] Chr10:10p12.33	uncertain significance
NM_001145195.2(SLC39A12):c.1417G>C (p.Asp473His)	single nucleotide variant	not specified [RCV004202322]	Chr10:17991298 [GRCh38] Chr10:18280227 [GRCh37] Chr10:10p12.33	uncertain significance
NM_001145195.2(SLC39A12):c.1613G>T (p.Ser538Ile)	single nucleotide variant	not specified [RCV004169115]	Chr10:18000679 [GRCh38] Chr10:18289608 [GRCh37] Chr10:10p12.33	uncertain significance
NM_001145195.2(SLC39A12):c.257A>G (p.Asn86Ser)	single nucleotide variant	not specified [RCV004182202]	Chr10:17953533 [GRCh38] Chr10:18242462 [GRCh37] Chr10:10p12.33	uncertain significance
NM_001145195.2(SLC39A12):c.373C>G (p.Gln125Glu)	single nucleotide variant	not specified [RCV004262192]	Chr10:17961692 [GRCh38] Chr10:18250621 [GRCh37] Chr10:10p12.33	uncertain significance
NM_001145195.2(SLC39A12):c.569A>G (p.Lys190Arg)	single nucleotide variant	not specified [RCV004268572]	Chr10:17965508 [GRCh38] Chr10:18254437 [GRCh37] Chr10:10p12.33	uncertain significance
NM_001145195.2(SLC39A12):c.364A>G (p.Ile122Val)	single nucleotide variant	not specified [RCV004278784]	Chr10:17961683 [GRCh38] Chr10:18250612 [GRCh37] Chr10:10p12.33	uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	copy number gain	Distal trisomy 10q [RCV003319593]	Chr10:11138692..135427143 [GRCh37] Chr10:10p14-q26.3	pathogenic
NM_001145195.2(SLC39A12):c.1097A>C (p.Lys366Thr)	single nucleotide variant	not specified [RCV004351967]	Chr10:17987479 [GRCh38] Chr10:18276408 [GRCh37] Chr10:10p12.33	uncertain significance
NM_001145195.2(SLC39A12):c.394A>G (p.Lys132Glu)	single nucleotide variant	not specified [RCV004349957]	Chr10:17961713 [GRCh38] Chr10:18250642 [GRCh37] Chr10:10p12.33	uncertain significance
GRCh37/hg19 10p12.33(chr10:18227444-18596572)x3	copy number gain	not provided [RCV003484794]	Chr10:18227444..18596572 [GRCh37] Chr10:10p12.33	uncertain significance
NM_001145195.2(SLC39A12):c.1245C>T (p.Asp415=)	single nucleotide variant	not provided [RCV003417252]	Chr10:17987627 [GRCh38] Chr10:18276556 [GRCh37] Chr10:10p12.33	likely benign
NM_001145195.2(SLC39A12):c.46C>G (p.Leu16Val)	single nucleotide variant	not specified [RCV004461527]	Chr10:17953322 [GRCh38] Chr10:18242251 [GRCh37] Chr10:10p12.33	uncertain significance
NM_001145195.2(SLC39A12):c.1018A>G (p.Ile340Val)	single nucleotide variant	not specified [RCV004461519]	Chr10:17981405 [GRCh38] Chr10:18270334 [GRCh37] Chr10:10p12.33	uncertain significance
NM_001145195.2(SLC39A12):c.139C>A (p.Leu47Ile)	single nucleotide variant	not specified [RCV004461521]	Chr10:17953415 [GRCh38] Chr10:18242344 [GRCh37] Chr10:10p12.33	uncertain significance
NM_001145195.2(SLC39A12):c.609T>A (p.Ser203Arg)	single nucleotide variant	not specified [RCV004461528]	Chr10:17965548 [GRCh38] Chr10:18254477 [GRCh37] Chr10:10p12.33	uncertain significance
NM_001145195.2(SLC39A12):c.881C>T (p.Ser294Phe)	single nucleotide variant	not specified [RCV004461530]	Chr10:17978031 [GRCh38] Chr10:18266960 [GRCh37] Chr10:10p12.33	uncertain significance
NM_001145195.2(SLC39A12):c.719C>T (p.Ser240Phe)	single nucleotide variant	not specified [RCV004461529]	Chr10:17965658 [GRCh38] Chr10:18254587 [GRCh37] Chr10:10p12.33	likely benign
NM_001145195.2(SLC39A12):c.1570A>G (p.Ile524Val)	single nucleotide variant	not specified [RCV004461522]	Chr10:17995692 [GRCh38] Chr10:18284621 [GRCh37] Chr10:10p12.33	uncertain significance
NM_001145195.2(SLC39A12):c.1727C>A (p.Ala576Asp)	single nucleotide variant	not specified [RCV004461523]	Chr10:18000793 [GRCh38] Chr10:18289722 [GRCh37] Chr10:10p12.33	uncertain significance
NM_001145195.2(SLC39A12):c.379G>C (p.Glu127Gln)	single nucleotide variant	not specified [RCV004461526]	Chr10:17961698 [GRCh38] Chr10:18250627 [GRCh37] Chr10:10p12.33	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	574
Count of miRNA genes:	149
Interacting mature miRNAs:	163
Transcripts:	ENST00000377369, ENST00000377371, ENST00000377374, ENST00000539911
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
407197061	GWAS846037_H	aspartate aminotransferase measurement QTL GWAS846037 (human)		1e-153	aspartate aminotransferase measurement	blood aspartate aminotransferase activity level (CMO:0000580)	10	17993498	17993499	Human
407214916	GWAS863892_H	neuroimaging measurement QTL GWAS863892 (human)		6e-14	neuroimaging measurement		10	17955079	17955080	Human
407077313	GWAS726289_H	blood protein measurement QTL GWAS726289 (human)		0.000001	blood protein measurement	blood protein measurement (CMO:0000028)	10	17974284	17974285	Human
407036544	GWAS685520_H	myeloid white cell count QTL GWAS685520 (human)		7e-11	myeloid white cell count	white blood cell count (CMO:0000027)	10	17983041	17983042	Human
407197062	GWAS846038_H	aspartate aminotransferase measurement QTL GWAS846038 (human)		5e-112	aspartate aminotransferase measurement	blood aspartate aminotransferase activity level (CMO:0000580)	10	17992247	17992248	Human
407069248	GWAS718224_H	blood protein measurement QTL GWAS718224 (human)		2e-10	blood protein measurement	blood protein measurement (CMO:0000028)	10	17993498	17993499	Human
407101509	GWAS750485_H	leukocyte count QTL GWAS750485 (human)		7e-10	leukocyte quantity (VT:0000217)	white blood cell count (CMO:0000027)	10	17977481	17977482	Human
407035594	GWAS684570_H	alcohol consumption measurement QTL GWAS684570 (human)		1e-09	alcohol consumption measurement	ethanol drink intake rate (CMO:0001407)	10	17963451	17963452	Human
407190541	GWAS839517_H	aspartate aminotransferase to alanine aminotransferase ratio QTL GWAS839517 (human)		7e-68	aspartate aminotransferase to alanine aminotransferase ratio	serum aspartate aminotransferase activity level to alanine aminotransferase activity level ratio (CMO:0002245)	10	17993498	17993499	Human
407190540	GWAS839516_H	aspartate aminotransferase to alanine aminotransferase ratio QTL GWAS839516 (human)		8e-70	aspartate aminotransferase to alanine aminotransferase ratio	serum aspartate aminotransferase activity level to alanine aminotransferase activity level ratio (CMO:0002245)	10	17992247	17992248	Human
407037961	GWAS686937_H	myeloid white cell count QTL GWAS686937 (human)		9e-13	myeloid white cell count	white blood cell count (CMO:0000027)	10	17981493	17981494	Human
407015823	GWAS664799_H	neutrophil count QTL GWAS664799 (human)		5e-10	neutrophil quantity (VT:0000222)	blood neutrophil count (CMO:0000030)	10	17983041	17983042	Human
407197066	GWAS846042_H	blood protein measurement QTL GWAS846042 (human)		6e-41	blood protein measurement	blood protein measurement (CMO:0000028)	10	17981493	17981494	Human
407337800	GWAS986776_H	neutrophil count QTL GWAS986776 (human)		2e-08	neutrophil quantity (VT:0000222)	blood neutrophil count (CMO:0000030)	10	17983033	17983034	Human
406981143	GWAS630119_H	aspartate aminotransferase measurement QTL GWAS630119 (human)		4e-159	aspartate aminotransferase measurement	blood aspartate aminotransferase activity level (CMO:0000580)	10	17974944	17974945	Human
406885718	GWAS534694_H	peripheral arterial disease, traffic air pollution measurement QTL GWAS534694 (human)		0.000002	peripheral arterial disease, traffic air pollution measurement		10	18043063	18043064	Human
407111844	GWAS760820_H	leukocyte count QTL GWAS760820 (human)		3e-13	leukocyte quantity (VT:0000217)	white blood cell count (CMO:0000027)	10	17982727	17982729	Human
406937765	GWAS586741_H	fasting blood glucose measurement QTL GWAS586741 (human)		0.0000008	fasting blood glucose measurement	blood glucose level (CMO:0000046)	10	18001629	18001630	Human
407404460	GWAS1053436_H	aspartate aminotransferase measurement QTL GWAS1053436 (human)		5e-56	aspartate aminotransferase measurement	blood aspartate aminotransferase activity level (CMO:0000580)	10	18002293	18002294	Human
407101222	GWAS750198_H	mathematical ability QTL GWAS750198 (human)		4e-09	mathematical ability		10	17974944	17974945	Human
407240864	GWAS889840_H	brain measurement QTL GWAS889840 (human)		4e-28	brain measurement	brain measurement (CMO:0000911)	10	17954774	17954775	Human
407165731	GWAS814707_H	aspartate aminotransferase measurement QTL GWAS814707 (human)		2e-41	aspartate aminotransferase measurement	blood aspartate aminotransferase activity level (CMO:0000580)	10	17957904	17957905	Human
407287585	GWAS936561_H	macrophage mannose receptor 1 measurement QTL GWAS936561 (human)		5e-15	macrophage mannose receptor 1 measurement		10	17958411	17958412	Human
406960621	GWAS609597_H	synophrys measurement QTL GWAS609597 (human)		4e-09	synophrys measurement		10	17982929	17982930	Human
407007916	GWAS656892_H	neutrophil count QTL GWAS656892 (human)		3e-12	neutrophil quantity (VT:0000222)	blood neutrophil count (CMO:0000030)	10	17982727	17982729	Human
407173300	GWAS822276_H	monocyte count QTL GWAS822276 (human)		3e-09	monocyte quantity (VT:0000223)	blood monocyte count (CMO:0000032)	10	17959705	17959706	Human
407187764	GWAS836740_H	aspartate aminotransferase to alanine aminotransferase ratio QTL GWAS836740 (human)		3e-22	aspartate aminotransferase to alanine aminotransferase ratio	serum aspartate aminotransferase activity level to alanine aminotransferase activity level ratio (CMO:0002245)	10	17957904	17957905	Human
407115127	GWAS764103_H	neutrophil count QTL GWAS764103 (human)		1e-12	neutrophil quantity (VT:0000222)	blood neutrophil count (CMO:0000030)	10	17982727	17982729	Human
407404028	GWAS1053004_H	aspartate aminotransferase to alanine aminotransferase ratio QTL GWAS1053004 (human)		1e-33	aspartate aminotransferase to alanine aminotransferase ratio	serum aspartate aminotransferase activity level to alanine aminotransferase activity level ratio (CMO:0002245)	10	18002293	18002294	Human
407213936	GWAS862912_H	neuroimaging measurement QTL GWAS862912 (human)		3e-14	neuroimaging measurement		10	17955079	17955080	Human
407334705	GWAS983681_H	leukocyte count QTL GWAS983681 (human)		4e-09	leukocyte quantity (VT:0000217)	white blood cell count (CMO:0000027)	10	17983033	17983034	Human
407164605	GWAS813581_H	aspartate aminotransferase measurement QTL GWAS813581 (human)		2e-19	aspartate aminotransferase measurement	blood aspartate aminotransferase activity level (CMO:0000580)	10	18010699	18010700	Human
407213631	GWAS862607_H	neuroimaging measurement QTL GWAS862607 (human)		9e-18	neuroimaging measurement		10	17991673	17991674	Human
407188222	GWAS837198_H	aspartate aminotransferase to alanine aminotransferase ratio QTL GWAS837198 (human)		8e-12	aspartate aminotransferase to alanine aminotransferase ratio	serum aspartate aminotransferase activity level to alanine aminotransferase activity level ratio (CMO:0002245)	10	18010699	18010700	Human
407264442	GWAS913418_H	neuroimaging measurement QTL GWAS913418 (human)		2e-09	neuroimaging measurement		10	17960735	17960736	Human

Markers in Region

G17503

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	18,266,211 - 18,266,419	UniSTS	GRCh37
Build 36	10	18,306,217 - 18,306,425	RGD	NCBI36
Celera	10	17,952,726 - 17,952,934	RGD
Cytogenetic Map	10	p12.33	UniSTS
HuRef	10	17,932,256 - 17,932,464	UniSTS

ECD19339

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,596,562 - 61,596,886	UniSTS	GRCh37
GRCh37	10	18,318,376 - 18,318,700	UniSTS	GRCh37
Build 36	10	18,358,382 - 18,358,706	RGD	NCBI36
Celera	18	58,317,012 - 58,317,336	UniSTS
Celera	10	18,004,867 - 18,005,191	RGD
Cytogenetic Map	10	p12.33	UniSTS
Cytogenetic Map	18	q21.3	UniSTS
HuRef	18	58,297,688 - 58,298,012	UniSTS
HuRef	10	17,984,398 - 17,984,722	UniSTS

ECD21712

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,596,178 - 61,596,419	UniSTS	GRCh37
GRCh37	10	18,318,843 - 18,319,084	UniSTS	GRCh37
Build 36	10	18,358,849 - 18,359,090	RGD	NCBI36
Celera	18	58,316,628 - 58,316,869	UniSTS
Celera	10	18,005,334 - 18,005,575	RGD
Cytogenetic Map	10	p12.33	UniSTS
Cytogenetic Map	18	q21.3	UniSTS
HuRef	18	58,297,304 - 58,297,545	UniSTS
HuRef	10	17,984,865 - 17,985,106	UniSTS

REN11920

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,596,244 - 61,596,471	UniSTS	GRCh37
GRCh37	10	18,318,791 - 18,319,018	UniSTS	GRCh37
Build 36	10	18,358,797 - 18,359,024	RGD	NCBI36
Celera	18	58,316,694 - 58,316,921	UniSTS
Celera	10	18,005,282 - 18,005,509	RGD
Cytogenetic Map	10	p12.33	UniSTS
Cytogenetic Map	18	q21.3	UniSTS
HuRef	18	58,297,370 - 58,297,597	UniSTS
HuRef	10	17,984,813 - 17,985,040	UniSTS

REN11921

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,596,454 - 61,596,696	UniSTS	GRCh37
GRCh37	10	18,318,566 - 18,318,808	UniSTS	GRCh37
Build 36	10	18,358,572 - 18,358,814	RGD	NCBI36
Celera	18	58,316,904 - 58,317,146	UniSTS
Celera	10	18,005,057 - 18,005,299	RGD
Cytogenetic Map	10	p12.33	UniSTS
Cytogenetic Map	18	q21.3	UniSTS
HuRef	18	58,297,580 - 58,297,822	UniSTS
HuRef	10	17,984,588 - 17,984,830	UniSTS

REN11922

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	61,596,674 - 61,596,904	UniSTS	GRCh37
GRCh37	10	18,318,358 - 18,318,588	UniSTS	GRCh37
Build 36	10	18,358,364 - 18,358,594	RGD	NCBI36
Celera	18	58,317,124 - 58,317,354	UniSTS
Celera	10	18,004,849 - 18,005,079	RGD
Cytogenetic Map	10	p12.33	UniSTS
Cytogenetic Map	18	q21.3	UniSTS
HuRef	18	58,297,800 - 58,298,030	UniSTS
HuRef	10	17,984,380 - 17,984,610	UniSTS

SLC39A12__5440

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	18,331,643 - 18,332,239	UniSTS	GRCh37
Build 36	10	18,371,649 - 18,372,245	RGD	NCBI36
Celera	10	18,018,066 - 18,018,662	RGD
HuRef	10	17,997,022 - 17,997,618	UniSTS

G17490

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	18,291,127 - 18,291,270	UniSTS	GRCh37
Build 36	10	18,331,133 - 18,331,276	RGD	NCBI36
Celera	10	17,977,633 - 17,977,776	RGD
Cytogenetic Map	10	p12.33	UniSTS
HuRef	10	17,957,163 - 17,957,306	UniSTS

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001145195	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001282733	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001282734	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_152725	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC069023	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK055061	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK295294	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK303735	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL360231	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL590111	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC035118	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC047635	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC065917	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC094700	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC117323	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC143551	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BF963263	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471072	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068268	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB469365	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB540352	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB545916	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000377369 ⟹ ENSP00000366586

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	17,951,918 - 18,043,285 (+)	Ensembl

Ensembl Acc Id:

ENST00000377371 ⟹ ENSP00000366588

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	17,951,914 - 18,043,287 (+)	Ensembl

Ensembl Acc Id:

ENST00000377374 ⟹ ENSP00000366591

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	17,951,892 - 18,043,287 (+)	Ensembl

Ensembl Acc Id:

ENST00000539911 ⟹ ENSP00000440445

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	17,951,839 - 18,043,292 (+)	Ensembl

RefSeq Acc Id:

NM_001145195 ⟹ NP_001138667

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	17,951,918 - 18,043,285 (+)	NCBI
GRCh37	10	18,240,768 - 18,332,221 (+)	RGD
Celera	10	17,927,289 - 18,018,644 (+)	RGD
HuRef	10	17,906,828 - 17,997,600 (+)	ENTREZGENE
CHM1_1	10	18,240,775 - 18,332,234 (+)	NCBI
T2T-CHM13v2.0	10	17,971,349 - 18,062,603 (+)	NCBI

Sequence:

show sequence

ACAGTCAAAGAATTTTAAAAACAGGGAACTTTGTAACTGTGAAATACTCTCCAGGATTTAAAAG
GCTGTGGAGCTCCAGATAAAGAATCGTTTATCTTTCTTCTGAAGAAATTCCTTTGGTTACAAGT
TTACCCCATAAACGGCAACACACTCACCTCCATCCAAGACAGACTCAAGGTGGAGGAAGCGTGG
AAATGTGCTTCCGGACAAAGCTCTCAGTATCCTGGGTGCCATTGTTTCTTCTACTCAGCCGTGT
TTTTTCTACTGAGACAGACAAACCCTCAGCCCAGGATAGCAGAAGCCGTGGGAGTTCAGGCCAA
CCGGCAGACCTGCTACAGGTTCTCTCTGCTGGTGACCACCCACCCCACAACCACTCAAGAAGCC
TCATCAAAACATTGTTGGAGAAAACTGGGTGCCCACGGAGGAGAAACGGAATGCAAGGAGATTG
CAATCTGTGCTTTGAACCAGATGCACTATTACTAATAGCTGGAGGAAATTTTGAAGATCAGCTT
AGAGAAGAAGTGGTCCAGAGAGTTTCTCTTCTCCTTCTCTATTACATTATTCATCAGGAAGAGA
TCTGTTCTTCAAAGCTCAACATGAGTAATAAAGAGTATAAATTTTACCTACACAGCCTACTGAG
CCTCAGGCAGGATGAAGATTCCTCTTTCCTTTCACAGAATGAGACAGAAGATATCTTGGCTTTC
ACCAGGCAGTACTTTGACACTTCTCAAAGCCAGTGTATGGAAACCAAAACGCTGCAGAAAAAAT
CTGGAATAGTGAGCAGTGAAGGTGCTAATGAAAGTACGCTTCCTCAGTTGGCAGCCATGATCAT
TACTTTGTCCCTCCAGGGTGTTTGTCTGGGACAAGGAAACTTGCCTTCCCCAGACTACTTTACA
GAATATATTTTCAGTTCCTTGAATCGTACGAATACCCTCCGCCTATCAGAACTAGACCAACTCC
TCAACACTCTCTGGACCAGAAGTACTTGTATCAAAAATGAGAAAATCCATCAATTTCAAAGGAA
ACAAAACAACATAATAACCCATGATCAGGACTATTCTAATTTCTCTTCATCCATGGAAAAAGAG
TCTGAGGATGGTCCAGTTTCCTGGGATCAGACCTGCTTCTCTGCTAGGCAGCTGGTGGAGATAT
TTCTACAGAAGGGCCTCTCACTCATTTCTAAGGAGGACTTTAAGCAAATGAGTCCAGGGATCAT
CCAGCAGCTCCTCAGCTGCTCCTGCCACTTACCCAAGGACCAACAAGCAAAGCTGCCACCTACC
ACTCTGGAGAAATACGGCTACAGCACGGTGGCTGTCACCCTTCTCACACTGGGCTCCATGCTGG
GGACAGCGCTGGTCCTTTTCCATAGCTGTGAGGAGAACTACAGGCTTATCTTACAGCTGTTTGT
GGGCTTGGCCGTCGGGACACTGTCTGGGGACGCTCTGCTCCACCTTATCCCTCAGGTTCTTGGT
TTACATAAGCAGGAAGCCCCAGAATTTGGGCATTTCCATGAAAGCAAAGGTCATATTTGGAAAC
TGATGGGATTAATTGGAGGCATCCATGGATTTTTCTTGATAGAAAAATGTTTTATTCTTCTTGT
ATCACCAAATGACAAGCAGGGCCTGTCATTGGTTAATGGGCACGTGGGTCATTCCCACCATCTT
GCACTCAACTCTGAATTAAGTGACCAGGCAGGCAGAGGCAAATCTGCTTCAACTATCCAGTTGA
AAAGCCCAGAAGATTCACAGGCAGCTGAAATGCCTATAGGCAGTATGACAGCCTCCAACAGAAA
ATGTAAAGCCATTAGCTTGTTAGCAATCATGATTCTGGTTGGGGACAGCCTGCATAATTTTGCA
GATGGCCTAGCCATAGGAGCAGCCTTCTCATCATCATCCGAGTCAGGAGTGACCACTACGATTG
CTATCTTGTGTCATGAAATCCCACATGAAATGGGAGACTTTGCCGTGCTCTTAAGCTCTGGACT
TTCTATGAAGACTGCCATCCTGATGAATTTTATAAGCTCCCTAACTGCCTTCATGGGATTATAC
ATTGGCCTTTCCGTGTCAGCTGATCCATGTGTTCAAGACTGGATCTTCACAGTCACTGCTGGGA
TGTTCTTATATTTATCCTTGGTTGAAATGCTTCCTGAAATGACTCATGTTCAAACACAACGACC
CTGGATGATGTTTCTCCTGCAAAACTTTGGATTGATCCTAGGTTGGCTTTCTCTCCTGCTCTTG
GCTATATATGAGCAAAATATTAAAATATAAGTGAGGATCTTCAACATCTTTCAAAAATGCATTT
ATATAGTCTTACTTTGTTTCTTTCATTGCACTCTATAATGATTTTTAAATTAAGAATTTTTTAT
CTTAGGCAAAGTGTGTCTCTTTCAATTCATTAACTTATTAATTTTATAATGCAGTTTTATTTTT
GGAAACATATAAATATCAGACTGTCCTTAATTGAAATTTTGTCTTTGGTTTCCAACACCATGAT
GAAGCTCTTGCTTTTTAAAAAGTAGTTAGTAAATTCTGCATGAATTTTAGTAAACTTTAAAAAA
TAGATTTTTTCCCTAAGAAAGAATGTTTGTAGAATTTAAAGTGGACAGATGCCTGTTGGAGTAA
AATCAACTGCAACTTTTTGATGTTAATTTTTTTCCCTGTGCAATTATAAACTATAAGCAAGTTA
AGTGACAAGCAAATGTAATAAAGACTAGTTTTAA

hide sequence

RefSeq Acc Id:

NM_001282733 ⟹ NP_001269662

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	17,951,918 - 18,043,285 (+)	NCBI
HuRef	10	17,906,828 - 17,997,600 (+)	NCBI
CHM1_1	10	18,240,775 - 18,332,234 (+)	NCBI
T2T-CHM13v2.0	10	17,971,349 - 18,062,603 (+)	NCBI

Sequence:

show sequence

ACAGTCAAAGAATTTTAAAAACAGGGAACTTTGTAACTGTGAAATACTCTCCAGGATTTAAAAG
GCTGTGGAGCTCCAGATAAAGAATCGTTTATCTTTCTTCTGAAGAAATTCCTTTGGTTACAAGT
TTACCCCATAAACGGCAACACACTCACCTCCATCCAAGACAGACTCAAGGTGGAGGAAGCGTGG
AAATGTGCTTCCGGACAAAGCTCTCAGTATCCTGGGTGCCATTGTTTCTTCTACTCAGCCGTGT
TTTTTCTACTGAGACAGACAAACCCTCAGCCCAGGATAGCAGAAGCCGTGGGAGTTCAGGCCAA
CCGGCAGACCTGCTACAGGTTCTCTCTGCTGGTGACCACCCACCCCACAACCACTCAAGAAGCC
TCATCAAAACATTGTTGGAGAAAACTGGGTGCCCACGGAGGAGAAACGGAATGCAAGGAGATTG
CAATCTGTGCTTTGAACCAGATGCACTATTACTAATAGCTGGAGGAAATTTTGAAGATCAGCTT
AGAGAAGAAGTGGTCCAGAGAGTTTCTCTTCTCCTTCTCTATTACATTATTCATCAGGAAGAGA
TCTGTTCTTCAAAGCTCAACATGAGTAATAAAGAGTATAAATTTTACCTACACAGCCTACTGAG
CCTCAGGCAGGATGAAGATTCCTCTTTCCTTTCACAGAATGAGACAGAAGATATCTTGGCTTTC
ACCAGGCAGTACTTTGACACTTCTCAAAGCCAGTGTATGGAAACCAAAACGCTGCAGAAAAAAT
CTGGAATAGTGAGCAGTGAAGGTGCTAATGAAAGTACGCTTCCTCAGTTGGCAGCCATGATCAT
TACTTTGTCCCTCCAGGGTGTTTGTCTGGGACAAGGAAACTTGCCTTCCCCAGACTACTTTACA
GAATATATTTTCAGTTCCTTGAATCGTACGAATACCCTCCGCCTATCAGAACTAGACCAACTCC
TCAACACTCTCTGGACCAGAAGTACTTGTATCAAAAATGAGAAAATCCATCAATTTCAAAGGAA
ACAAAACAACATAATAACCCATGATCAGGACTATTCTAATTTCTCTTCATCCATGGAAAAAGAG
TCTGAGGATGGTCCAGTTTCCTGGGATCAGACCTGCTTCTCTGCTAGGCAGCTGGTGGAGATAT
TTCTACAGAAGGGCCTCTCACTCATTTCTAAGGAGGACTTTAAGCAAATGAGTCCAGGGATCAT
CCAGCAGCTCCTCAGCTGCTCCTGCCACTTACCCAAGGACCAACAAGCAAAGCTGCCACCTACC
ACTCTGGAGAAATACGGCTACAGCACGGTGGCTGTCACCCTTCTCACACTGGGCTCCATGCTGG
GGACAGCGCTGGTCCTTTTCCATAGCTGTGAGGAGAACTACAGGCTTATCTTACAGCTGTTTGT
GGGCTTGGCCGTCGGGACACTGTCTGGGGACGCTCTGCTCCACCTTATCCCTCAGGTTCTTGGT
TTACATAAGCAGGAAGCCCCAGAATTTGGGCATTTCCATGAAAGCAAAGGTCATATTTGGAAAC
TGATGGGATTAATTGGAGGCATCCATGGATTTTTCTTGATAGAAAAATGTTTTATTCTTCTTGT
ATCACCAAATGACAAGGGCCTGTCATTGGTTAATGGGCACGTGGGTCATTCCCACCATCTTGCA
CTCAACTCTGAATTAAGTGACCAGGCAGGCAGAGGCAAATCTGCTTCAACTATCCAGTTGAAAA
GCCCAGAAGATTCACAGGCAGCTGAAATGCCTATAGGCAGTATGACAGCCTCCAACAGAAAATG
TAAAGCCATTAGCTTGTTAGCAATCATGATTCTGGTTGGGGACAGCCTGCATAATTTTGCAGAT
GGCCTAGCCATAGGAGCAGCCTTCTCATCATCATCCGAGTCAGGAGTGACCACTACGATTGCTA
TCTTGTGTCATGAAATCCCACATGAAATGGGAGACTTTGCCGTGCTCTTAAGCTCTGGACTTTC
TATGAAGACTGCCATCCTGATGAATTTTATAAGCTCCCTAACTGCCTTCATGGGATTATACATT
GGCCTTTCCGTGTCAGCTGATCCATGTGTTCAAGACTGGATCTTCACAGTCACTGCTGGGATGT
TCTTATATTTATCCTTGGTTGAAATGCTTCCTGAAATGACTCATGTTCAAACACAACGACCCTG
GATGATGTTTCTCCTGCAAAACTTTGGATTGATCCTAGGTTGGCTTTCTCTCCTGCTCTTGGCT
ATATATGAGCAAAATATTAAAATATAAGTGAGGATCTTCAACATCTTTCAAAAATGCATTTATA
TAGTCTTACTTTGTTTCTTTCATTGCACTCTATAATGATTTTTAAATTAAGAATTTTTTATCTT
AGGCAAAGTGTGTCTCTTTCAATTCATTAACTTATTAATTTTATAATGCAGTTTTATTTTTGGA
AACATATAAATATCAGACTGTCCTTAATTGAAATTTTGTCTTTGGTTTCCAACACCATGATGAA
GCTCTTGCTTTTTAAAAAGTAGTTAGTAAATTCTGCATGAATTTTAGTAAACTTTAAAAAATAG
ATTTTTTCCCTAAGAAAGAATGTTTGTAGAATTTAAAGTGGACAGATGCCTGTTGGAGTAAAAT
CAACTGCAACTTTTTGATGTTAATTTTTTTCCCTGTGCAATTATAAACTATAAGCAAGTTAAGT
GACAAGCAAATGTAATAAAGACTAGTTTTAA

hide sequence

RefSeq Acc Id:

NM_001282734 ⟹ NP_001269663

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	17,951,918 - 18,043,285 (+)	NCBI
HuRef	10	17,906,828 - 17,997,600 (+)	NCBI
CHM1_1	10	18,240,775 - 18,332,234 (+)	NCBI
T2T-CHM13v2.0	10	17,971,349 - 18,062,603 (+)	NCBI

Sequence:

show sequence

ACAGTCAAAGAATTTTAAAAACAGGGAACTTTGTAACTGTGAAATACTCTCCAGGATTTAAAAG
GCTGTGGAGCTCCAGATAAAGAATCGTTTATCTTTCTTCTGAAGTGCTTTGAACCAGATGCACT
ATTACTAATAGCTGGAGGAAATTTTGAAGATCAGCTTAGAGAAGAAGTGGTCCAGAGAGTTTCT
CTTCTCCTTCTCTATTACATTATTCATCAGGAAGAGATCTGTTCTTCAAAGCTCAACATGAGTA
ATAAAGAGTATAAATTTTACCTACACAGCCTACTGAGCCTCAGGCAGGATGAAGATTCCTCTTT
CCTTTCACAGAATGAGACAGAAGATATCTTGGCTTTCACCAGGCAGTACTTTGACACTTCTCAA
AGCCAGTGTATGGAAACCAAAACGCTGCAGAAAAAATCTGGAATAGTGAGCAGTGAAGGTGCTA
ATGAAAGTACGCTTCCTCAGTTGGCAGCCATGATCATTACTTTGTCCCTCCAGGGTGTTTGTCT
GGGACAAGGAAACTTGCCTTCCCCAGACTACTTTACAGAATATATTTTCAGTTCCTTGAATCGT
ACGAATACCCTCCGCCTATCAGAACTAGACCAACTCCTCAACACTCTCTGGACCAGAAGTACTT
GTATCAAAAATGAGAAAATCCATCAATTTCAAAGGAAACAAAACAACATAATAACCCATGATCA
GGACTATTCTAATTTCTCTTCATCCATGGAAAAAGAGTCTGAGGATGGTCCAGTTTCCTGGGAT
CAGACCTGCTTCTCTGCTAGGCAGCTGGTGGAGATATTTCTACAGAAGGGCCTCTCACTCATTT
CTAAGGAGGACTTTAAGCAAATGAGTCCAGGGATCATCCAGCAGCTCCTCAGCTGCTCCTGCCA
CTTACCCAAGGACCAACAAGCAAAGCTGCCACCTACCACTCTGGAGAAATACGGCTACAGCACG
GTGGCTGTCACCCTTCTCACACTGGGCTCCATGCTGGGGACAGCGCTGGTCCTTTTCCATAGCT
GTGAGGAGAACTACAGGCTTATCTTACAGCTGTTTGTGGGCTTGGCCGTCGGGACACTGTCTGG
GGACGCTCTGCTCCACCTTATCCCTCAGGTTCTTGGTTTACATAAGCAGGAAGCCCCAGAATTT
GGGCATTTCCATGAAAGCAAAGGTCATATTTGGAAACTGATGGGATTAATTGGAGGCATCCATG
GATTTTTCTTGATAGAAAAATGTTTTATTCTTCTTGTATCACCAAATGACAAGCAGGGCCTGTC
ATTGGTTAATGGGCACGTGGGTCATTCCCACCATCTTGCACTCAACTCTGAATTAAGTGACCAG
GCAGGCAGAGGCAAATCTGCTTCAACTATCCAGTTGAAAAGCCCAGAAGATTCACAGGCAGCTG
AAATGCCTATAGGCAGTATGACAGCCTCCAACAGAAAATGTAAAGCCATTAGCTTGTTAGCAAT
CATGATTCTGGTTGGGGACAGCCTGCATAATTTTGCAGATGGCCTAGCCATAGGAGCAGCCTTC
TCATCATCATCCGAGTCAGGAGTGACCACTACGATTGCTATCTTGTGTCATGAAATCCCACATG
AAATGGGAGACTTTGCCGTGCTCTTAAGCTCTGGACTTTCTATGAAGACTGCCATCCTGATGAA
TTTTATAAGCTCCCTAACTGCCTTCATGGGATTATACATTGGCCTTTCCGTGTCAGCTGATCCA
TGTGTTCAAGACTGGATCTTCACAGTCACTGCTGGGATGTTCTTATATTTATCCTTGGTTGAAA
TGCTTCCTGAAATGACTCATGTTCAAACACAACGACCCTGGATGATGTTTCTCCTGCAAAACTT
TGGATTGATCCTAGGTTGGCTTTCTCTCCTGCTCTTGGCTATATATGAGCAAAATATTAAAATA
TAAGTGAGGATCTTCAACATCTTTCAAAAATGCATTTATATAGTCTTACTTTGTTTCTTTCATT
GCACTCTATAATGATTTTTAAATTAAGAATTTTTTATCTTAGGCAAAGTGTGTCTCTTTCAATT
CATTAACTTATTAATTTTATAATGCAGTTTTATTTTTGGAAACATATAAATATCAGACTGTCCT
TAATTGAAATTTTGTCTTTGGTTTCCAACACCATGATGAAGCTCTTGCTTTTTAAAAAGTAGTT
AGTAAATTCTGCATGAATTTTAGTAAACTTTAAAAAATAGATTTTTTCCCTAAGAAAGAATGTT
TGTAGAATTTAAAGTGGACAGATGCCTGTTGGAGTAAAATCAACTGCAACTTTTTGATGTTAAT
TTTTTTCCCTGTGCAATTATAAACTATAAGCAAGTTAAGTGACAAGCAAATGTAATAAAGACTA
GTTTTAA

hide sequence

RefSeq Acc Id:

NM_152725 ⟹ NP_689938

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	17,951,918 - 18,043,285 (+)	NCBI
GRCh37	10	18,240,768 - 18,332,221 (+)	RGD
Build 36	10	18,280,827 - 18,372,218 (+)	NCBI Archive
Celera	10	17,927,289 - 18,018,644 (+)	RGD
HuRef	10	17,906,828 - 17,997,600 (+)	ENTREZGENE
CHM1_1	10	18,240,775 - 18,332,234 (+)	NCBI
T2T-CHM13v2.0	10	17,971,349 - 18,062,603 (+)	NCBI

Sequence:

show sequence

ACAGTCAAAGAATTTTAAAAACAGGGAACTTTGTAACTGTGAAATACTCTCCAGGATTTAAAAG
GCTGTGGAGCTCCAGATAAAGAATCGTTTATCTTTCTTCTGAAGAAATTCCTTTGGTTACAAGT
TTACCCCATAAACGGCAACACACTCACCTCCATCCAAGACAGACTCAAGGTGGAGGAAGCGTGG
AAATGTGCTTCCGGACAAAGCTCTCAGTATCCTGGGTGCCATTGTTTCTTCTACTCAGCCGTGT
TTTTTCTACTGAGACAGACAAACCCTCAGCCCAGGATAGCAGAAGCCGTGGGAGTTCAGGCCAA
CCGGCAGACCTGCTACAGGTTCTCTCTGCTGGTGACCACCCACCCCACAACCACTCAAGAAGCC
TCATCAAAACATTGTTGGAGAAAACTGGGTGCCCACGGAGGAGAAACGGAATGCAAGGAGATTG
CAATCTGTGCTTTGAACCAGATGCACTATTACTAATAGCTGGAGGAAATTTTGAAGATCAGCTT
AGAGAAGAAGTGGTCCAGAGAGTTTCTCTTCTCCTTCTCTATTACATTATTCATCAGGAAGAGA
TCTGTTCTTCAAAGCTCAACATGAGTAATAAAGAGTATAAATTTTACCTACACAGCCTACTGAG
CCTCAGGCAGGATGAAGATTCCTCTTTCCTTTCACAGAATGAGACAGAAGATATCTTGGCTTTC
ACCAGGCAGTACTTTGACACTTCTCAAAGCCAGTGTATGGAAACCAAAACGCTGCAGAAAAAAT
CTGGAATAGTGAGCAGTGAAGGTGCTAATGAAAGTACGCTTCCTCAGTTGGCAGCCATGATCAT
TACTTTGTCCCTCCAGGGTGTTTGTCTGGGACAAGGAAACTTGCCTTCCCCAGACTACTTTACA
GAATATATTTTCAGTTCCTTGAATCGTACGAATACCCTCCGCCTATCAGAACTAGACCAACTCC
TCAACACTCTCTGGACCAGAAGTACTTGTATCAAAAATGAGAAAATCCATCAATTTCAAAGGAA
ACAAAACAACATAATAACCCATGATCAGGACTATTCTAATTTCTCTTCATCCATGGAAAAAGAG
TCTGAGGATGGTCCAGTTTCCTGGGATCAGACCTGCTTCTCTGCTAGGCAGCTGGTGGAGATAT
TTCTACAGAAGGGCCTCTCACTCATTTCTAAGGAGGACTTTAAGCAAATGAGTCCAGGGATCAT
CCAGCAGCTCCTCAGCTGCTCCTGCCACTTACCCAAGGACCAACAAGCAAAGCTGCCACCTACC
ACTCTGGAGAAATACGGCTACAGCACGGTGGCTGTCACCCTTCTCACACTGGGCTCCATGCTGG
GGACAGCGCTGGTCCTTTTCCATAGCTGTGAGGAGAACTACAGGCTTATCTTACAGCTGTTTGT
GGGCTTGGCCGTCGGGACACTGTCTGGGGACGCTCTGCTCCACCTTATCCCTCAGGTTCTTGGT
TTACATAAGCAGGAAGCCCCAGAATTTGGGCATTTCCATGAAAGCAAAGGTCATATTTGGAAAC
TGATGGGATTAATTGGAGGCATCCATGGATTTTTCTTGATAGAAAAATGTTTTATTCTTCTTGT
ATCACCAAATGACAAGAAAAGCCCAGAAGATTCACAGGCAGCTGAAATGCCTATAGGCAGTATG
ACAGCCTCCAACAGAAAATGTAAAGCCATTAGCTTGTTAGCAATCATGATTCTGGTTGGGGACA
GCCTGCATAATTTTGCAGATGGCCTAGCCATAGGAGCAGCCTTCTCATCATCATCCGAGTCAGG
AGTGACCACTACGATTGCTATCTTGTGTCATGAAATCCCACATGAAATGGGAGACTTTGCCGTG
CTCTTAAGCTCTGGACTTTCTATGAAGACTGCCATCCTGATGAATTTTATAAGCTCCCTAACTG
CCTTCATGGGATTATACATTGGCCTTTCCGTGTCAGCTGATCCATGTGTTCAAGACTGGATCTT
CACAGTCACTGCTGGGATGTTCTTATATTTATCCTTGGTTGAAATGCTTCCTGAAATGACTCAT
GTTCAAACACAACGACCCTGGATGATGTTTCTCCTGCAAAACTTTGGATTGATCCTAGGTTGGC
TTTCTCTCCTGCTCTTGGCTATATATGAGCAAAATATTAAAATATAAGTGAGGATCTTCAACAT
CTTTCAAAAATGCATTTATATAGTCTTACTTTGTTTCTTTCATTGCACTCTATAATGATTTTTA
AATTAAGAATTTTTTATCTTAGGCAAAGTGTGTCTCTTTCAATTCATTAACTTATTAATTTTAT
AATGCAGTTTTATTTTTGGAAACATATAAATATCAGACTGTCCTTAATTGAAATTTTGTCTTTG
GTTTCCAACACCATGATGAAGCTCTTGCTTTTTAAAAAGTAGTTAGTAAATTCTGCATGAATTT
TAGTAAACTTTAAAAAATAGATTTTTTCCCTAAGAAAGAATGTTTGTAGAATTTAAAGTGGACA
GATGCCTGTTGGAGTAAAATCAACTGCAACTTTTTGATGTTAATTTTTTTCCCTGTGCAATTAT
AAACTATAAGCAAGTTAAGTGACAAGCAAATGTAATAAAGACTAGTTTTAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001138667	(Get FASTA)	NCBI Sequence Viewer
	NP_001269662	(Get FASTA)	NCBI Sequence Viewer
	NP_001269663	(Get FASTA)	NCBI Sequence Viewer
	NP_689938	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH35118	(Get FASTA)	NCBI Sequence Viewer
	AAH47635	(Get FASTA)	NCBI Sequence Viewer
	AAH65917	(Get FASTA)	NCBI Sequence Viewer
	AAH94700	(Get FASTA)	NCBI Sequence Viewer
	AAI17324	(Get FASTA)	NCBI Sequence Viewer
	AAI43552	(Get FASTA)	NCBI Sequence Viewer
	BAB70848	(Get FASTA)	NCBI Sequence Viewer
	BAH12025	(Get FASTA)	NCBI Sequence Viewer
	BAH14035	(Get FASTA)	NCBI Sequence Viewer
	EAW86199	(Get FASTA)	NCBI Sequence Viewer
	EAW86200	(Get FASTA)	NCBI Sequence Viewer
	EAW86201	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000366586
	ENSP00000366586.2
	ENSP00000366588
	ENSP00000366588.3
	ENSP00000366591
	ENSP00000366591.4
	ENSP00000440445
	ENSP00000440445.1
GenBank Protein	Q504Y0	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_689938 ⟸ NM_152725
- Peptide Label:	isoform 2 precursor
- UniProtKB:	B7Z8P9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MCFRTKLSVSWVPLFLLLSRVFSTETDKPSAQDSRSRGSSGQPADLLQVLSAGDHPPHNHSRSL IKTLLEKTGCPRRRNGMQGDCNLCFEPDALLLIAGGNFEDQLREEVVQRVSLLLLYYIIHQEEI CSSKLNMSNKEYKFYLHSLLSLRQDEDSSFLSQNETEDILAFTRQYFDTSQSQCMETKTLQKKS GIVSSEGANESTLPQLAAMIITLSLQGVCLGQGNLPSPDYFTEYIFSSLNRTNTLRLSELDQLL NTLWTRSTCIKNEKIHQFQRKQNNIITHDQDYSNFSSSMEKESEDGPVSWDQTCFSARQLVEIF LQKGLSLISKEDFKQMSPGIIQQLLSCSCHLPKDQQAKLPPTTLEKYGYSTVAVTLLTLGSMLG TALVLFHSCEENYRLILQLFVGLAVGTLSGDALLHLIPQVLGLHKQEAPEFGHFHESKGHIWKL MGLIGGIHGFFLIEKCFILLVSPNDKKSPEDSQAAEMPIGSMTASNRKCKAISLLAIMILVGDS LHNFADGLAIGAAFSSSSESGVTTTIAILCHEIPHEMGDFAVLLSSGLSMKTAILMNFISSLTA FMGLYIGLSVSADPCVQDWIFTVTAGMFLYLSLVEMLPEMTHVQTQRPWMMFLLQNFGLILGWL SLLLLAIYEQNIKI hide sequence

RefSeq Acc Id:	NP_001138667 ⟸ NM_001145195
- Peptide Label:	isoform 1 precursor
- UniProtKB:	Q6NZY5 (UniProtKB/Swiss-Prot), Q5VWV9 (UniProtKB/Swiss-Prot), Q5VWV8 (UniProtKB/Swiss-Prot), Q4G0L3 (UniProtKB/Swiss-Prot), Q49AN8 (UniProtKB/Swiss-Prot), F5GX72 (UniProtKB/Swiss-Prot), C9JJL4 (UniProtKB/Swiss-Prot), B7ZL35 (UniProtKB/Swiss-Prot), B7Z2Y9 (UniProtKB/Swiss-Prot), Q96NN4 (UniProtKB/Swiss-Prot), Q504Y0 (UniProtKB/Swiss-Prot), B7Z8P9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MCFRTKLSVSWVPLFLLLSRVFSTETDKPSAQDSRSRGSSGQPADLLQVLSAGDHPPHNHSRSL IKTLLEKTGCPRRRNGMQGDCNLCFEPDALLLIAGGNFEDQLREEVVQRVSLLLLYYIIHQEEI CSSKLNMSNKEYKFYLHSLLSLRQDEDSSFLSQNETEDILAFTRQYFDTSQSQCMETKTLQKKS GIVSSEGANESTLPQLAAMIITLSLQGVCLGQGNLPSPDYFTEYIFSSLNRTNTLRLSELDQLL NTLWTRSTCIKNEKIHQFQRKQNNIITHDQDYSNFSSSMEKESEDGPVSWDQTCFSARQLVEIF LQKGLSLISKEDFKQMSPGIIQQLLSCSCHLPKDQQAKLPPTTLEKYGYSTVAVTLLTLGSMLG TALVLFHSCEENYRLILQLFVGLAVGTLSGDALLHLIPQVLGLHKQEAPEFGHFHESKGHIWKL MGLIGGIHGFFLIEKCFILLVSPNDKQGLSLVNGHVGHSHHLALNSELSDQAGRGKSASTIQLK SPEDSQAAEMPIGSMTASNRKCKAISLLAIMILVGDSLHNFADGLAIGAAFSSSSESGVTTTIA ILCHEIPHEMGDFAVLLSSGLSMKTAILMNFISSLTAFMGLYIGLSVSADPCVQDWIFTVTAGM FLYLSLVEMLPEMTHVQTQRPWMMFLLQNFGLILGWLSLLLLAIYEQNIKI hide sequence

RefSeq Acc Id:	NP_001269662 ⟸ NM_001282733
- Peptide Label:	isoform 3 precursor
- UniProtKB:	B7Z8P9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MCFRTKLSVSWVPLFLLLSRVFSTETDKPSAQDSRSRGSSGQPADLLQVLSAGDHPPHNHSRSL IKTLLEKTGCPRRRNGMQGDCNLCFEPDALLLIAGGNFEDQLREEVVQRVSLLLLYYIIHQEEI CSSKLNMSNKEYKFYLHSLLSLRQDEDSSFLSQNETEDILAFTRQYFDTSQSQCMETKTLQKKS GIVSSEGANESTLPQLAAMIITLSLQGVCLGQGNLPSPDYFTEYIFSSLNRTNTLRLSELDQLL NTLWTRSTCIKNEKIHQFQRKQNNIITHDQDYSNFSSSMEKESEDGPVSWDQTCFSARQLVEIF LQKGLSLISKEDFKQMSPGIIQQLLSCSCHLPKDQQAKLPPTTLEKYGYSTVAVTLLTLGSMLG TALVLFHSCEENYRLILQLFVGLAVGTLSGDALLHLIPQVLGLHKQEAPEFGHFHESKGHIWKL MGLIGGIHGFFLIEKCFILLVSPNDKGLSLVNGHVGHSHHLALNSELSDQAGRGKSASTIQLKS PEDSQAAEMPIGSMTASNRKCKAISLLAIMILVGDSLHNFADGLAIGAAFSSSSESGVTTTIAI LCHEIPHEMGDFAVLLSSGLSMKTAILMNFISSLTAFMGLYIGLSVSADPCVQDWIFTVTAGMF LYLSLVEMLPEMTHVQTQRPWMMFLLQNFGLILGWLSLLLLAIYEQNIKI hide sequence

RefSeq Acc Id:	NP_001269663 ⟸ NM_001282734
- Peptide Label:	isoform 4
- UniProtKB:	B7Z8P9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSNKEYKFYLHSLLSLRQDEDSSFLSQNETEDILAFTRQYFDTSQSQCMETKTLQKKSGIVSSE GANESTLPQLAAMIITLSLQGVCLGQGNLPSPDYFTEYIFSSLNRTNTLRLSELDQLLNTLWTR STCIKNEKIHQFQRKQNNIITHDQDYSNFSSSMEKESEDGPVSWDQTCFSARQLVEIFLQKGLS LISKEDFKQMSPGIIQQLLSCSCHLPKDQQAKLPPTTLEKYGYSTVAVTLLTLGSMLGTALVLF HSCEENYRLILQLFVGLAVGTLSGDALLHLIPQVLGLHKQEAPEFGHFHESKGHIWKLMGLIGG IHGFFLIEKCFILLVSPNDKQGLSLVNGHVGHSHHLALNSELSDQAGRGKSASTIQLKSPEDSQ AAEMPIGSMTASNRKCKAISLLAIMILVGDSLHNFADGLAIGAAFSSSSESGVTTTIAILCHEI PHEMGDFAVLLSSGLSMKTAILMNFISSLTAFMGLYIGLSVSADPCVQDWIFTVTAGMFLYLSL VEMLPEMTHVQTQRPWMMFLLQNFGLILGWLSLLLLAIYEQNIKI hide sequence

Ensembl Acc Id:

ENSP00000366586 ⟸ ENST00000377369

Ensembl Acc Id:

ENSP00000366591 ⟸ ENST00000377374

Ensembl Acc Id:

ENSP00000366588 ⟸ ENST00000377371

Ensembl Acc Id:

ENSP00000440445 ⟸ ENST00000539911

Protein Domains

Zinc transporter ZIP4 N-terminal Zinc transporter ZIP4/12 EF-hand

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q504Y0-F1-model_v2	AlphaFold	Q504Y0	1-691	view protein structure

Promoters

RGD ID:

7217103

Promoter ID:

EPDNEW_H14297

Type:

initiation region

Name:

SLC39A12_1

Description:

solute carrier family 39 member 12

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H14298

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	17,951,920 - 17,951,980	EPDNEW

RGD ID:

7217107

Promoter ID:

EPDNEW_H14298

Type:

initiation region

Name:

SLC39A12_2

Description:

solute carrier family 39 member 12

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H14297

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	17,953,246 - 17,953,306	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:20860	AgrOrtholog
COSMIC	SLC39A12	COSMIC
Ensembl Genes	ENSG00000148482	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000377369	ENTREZGENE
	ENST00000377369.7	UniProtKB/Swiss-Prot
	ENST00000377371	ENTREZGENE
	ENST00000377371.3	UniProtKB/Swiss-Prot
	ENST00000377374	ENTREZGENE
	ENST00000377374.8	UniProtKB/Swiss-Prot
	ENST00000539911	ENTREZGENE
	ENST00000539911.5	UniProtKB/Swiss-Prot
GTEx	ENSG00000148482	GTEx
HGNC ID	HGNC:20860	ENTREZGENE
Human Proteome Map	SLC39A12	Human Proteome Map
InterPro	ZIP	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ZIP4_12_EF-hand	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ZIP4_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ZIP_Transporter	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:221074	UniProtKB/Swiss-Prot
NCBI Gene	221074	ENTREZGENE
OMIM	608734	OMIM
PANTHER	SOLUTE CARRIER FAMILY 39	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ZINC TRANSPORTER ZIP12	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	EF-hand_Zip	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Zip	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ZIP4_domain	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134956205	PharmGKB
UniProt	B7Z2Y9	ENTREZGENE
	B7Z8P9	ENTREZGENE, UniProtKB/TrEMBL
	B7ZL35	ENTREZGENE
	C9JJL4	ENTREZGENE
	F5GX72	ENTREZGENE
	Q49AN8	ENTREZGENE
	Q4G0L3	ENTREZGENE
	Q504Y0	ENTREZGENE
	Q5VWV8	ENTREZGENE
	Q5VWV9	ENTREZGENE
	Q6NZY5	ENTREZGENE
	Q96NN4	ENTREZGENE
	S39AC_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	B7Z2Y9	UniProtKB/Swiss-Prot
	B7ZL35	UniProtKB/Swiss-Prot
	C9JJL4	UniProtKB/Swiss-Prot
	F5GX72	UniProtKB/Swiss-Prot
	Q49AN8	UniProtKB/Swiss-Prot
	Q4G0L3	UniProtKB/Swiss-Prot
	Q5VWV8	UniProtKB/Swiss-Prot
	Q5VWV9	UniProtKB/Swiss-Prot
	Q6NZY5	UniProtKB/Swiss-Prot
	Q96NN4	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-05-10	SLC39A12	solute carrier family 39 member 12	SLC39A12	solute carrier family 39 (zinc transporter), member 12	Symbol and/or name change	5135510	APPROVED

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

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

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD