SLC40A1 (solute carrier family 40 member 1) - Rat Genome Database

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Gene: SLC40A1 (solute carrier family 40 member 1) Homo sapiens
Analyze
Symbol: SLC40A1
Name: solute carrier family 40 member 1
RGD ID: 733072
HGNC Page HGNC
Description: Enables iron ion transmembrane transporter activity and peptide hormone binding activity. Involved in cellular iron ion homeostasis and iron ion transmembrane transport. Located in basolateral plasma membrane; cytosol; and nucleoplasm. Implicated in hemochromatosis type 4.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ferroportin 1; ferroportin-1; FPN1; HFE4; IREG1; iron regulated gene 1; iron-regulated transporter 1; MST079; MSTP079; MTP1; putative ferroportin 1 variant IIIA; putative ferroportin 1 variant IIIB; SLC11A3; solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3; solute carrier family 39 (iron-regulated transporter), member 1; solute carrier family 40 (iron-regulated transporter), member 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2189,560,590 - 189,583,758 (-)EnsemblGRCh38hg38GRCh38
GRCh382189,560,590 - 189,580,811 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372190,425,316 - 190,445,512 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362190,133,561 - 190,153,858 (-)NCBINCBI36hg18NCBI36
Build 342190,250,823 - 190,271,119NCBI
Celera2184,020,234 - 184,040,455 (-)NCBI
Cytogenetic Map2q32.2NCBI
HuRef2182,284,805 - 182,305,032 (-)NCBIHuRef
CHM1_12190,431,102 - 190,451,326 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-acetamidofluorene  (ISO)
2-tert-butylhydroquinone  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP,ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,4-dihydroxybenzoate  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-tert-Octylphenol  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
actinomycin D  (ISO)
aflatoxin B1  (EXP,ISO)
alcohol  (EXP)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
apocynin  (ISO)
Aroclor 1254  (ISO)
arsenous acid  (EXP)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
busulfan  (ISO)
buta-1,3-diene  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
cannabidiol  (ISO)
carbon nanotube  (ISO)
chloroprene  (ISO)
chlorpyrifos  (EXP)
chromium(6+)  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
cobalt atom  (EXP,ISO)
cobalt dichloride  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP,ISO)
cyclosporin A  (EXP,ISO)
cytarabine  (EXP)
desferrioxamine B  (ISO)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
diazinon  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diethyl maleate  (EXP)
diethylstilbestrol  (ISO)
diquat  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
erastin  (EXP,ISO)
ethanol  (ISO)
ferric ammonium citrate  (ISO)
ferrostatin-1  (ISO)
flutamide  (ISO)
folic acid  (EXP)
gadolinium trichloride  (ISO)
Gastrodin  (ISO)
glycidol  (ISO)
hexane  (ISO)
hypochlorous acid  (ISO)
indometacin  (EXP)
iron atom  (EXP,ISO)
iron dextran  (ISO)
iron(0)  (EXP,ISO)
iron(2+) sulfate (anhydrous)  (ISO)
iron(III) nitrilotriacetate  (EXP)
isoprenaline  (ISO)
L-glutamic acid  (ISO)
lamivudine  (ISO)
lead diacetate  (ISO)
lipopolysaccharide  (EXP,ISO)
maneb  (ISO)
manganese atom  (EXP,ISO)
manganese(0)  (EXP,ISO)
manganese(II) chloride  (ISO)
mercury dibromide  (EXP)
mercury dichloride  (ISO)
methamphetamine  (ISO)
methapyrilene  (EXP)
methimazole  (ISO)
methylmercury chloride  (EXP)
mithramycin  (ISO)
N-acetyl-L-cysteine  (ISO)
N-nitrosodiethylamine  (ISO)
naphthalene  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nickel dichloride  (ISO)
nickel sulfate  (EXP)
nitric oxide  (ISO)
nitrofen  (ISO)
omeprazole  (ISO)
oxidopamine  (ISO)
p-chloromercuribenzoic acid  (EXP)
p-tert-Amylphenol  (ISO)
panobinostat  (EXP)
paracetamol  (EXP)
paraquat  (ISO)
pentachlorophenol  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (ISO)
permethrin  (ISO)
phenacetin  (ISO)
phenobarbital  (ISO)
phenylhydrazine  (ISO)
phenylmercury acetate  (EXP)
phorone  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
progesterone  (EXP)
quercetin  (EXP,ISO)
reactive oxygen species  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
SCH 23390  (ISO)
silicon dioxide  (EXP,ISO)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
succimer  (ISO)
sulforaphane  (ISO)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
tunicamycin  (ISO)
valproic acid  (EXP,ISO)
zidovudine  (EXP,ISO)
zinc atom  (ISO)
zinc(0)  (ISO)
zoledronic acid  (EXP)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:8125298   PMID:10693807   PMID:10747949   PMID:10828623   PMID:10882071   PMID:11076863   PMID:11230166   PMID:11256614   PMID:11431687   PMID:11518736   PMID:11774199   PMID:11783942  
PMID:11897618   PMID:11925460   PMID:12091366   PMID:12091367   PMID:12123233   PMID:12161425   PMID:12376346   PMID:12406098   PMID:12477932   PMID:12730114   PMID:12857562   PMID:12865285  
PMID:12873829   PMID:14636642   PMID:14636643   PMID:14702039   PMID:14757427   PMID:14768003   PMID:15075083   PMID:15338274   PMID:15466004   PMID:15489334   PMID:15489336   PMID:15514116  
PMID:15692071   PMID:15727899   PMID:15831700   PMID:15894659   PMID:15897636   PMID:15935710   PMID:15942076   PMID:15956209   PMID:16169070   PMID:16274220   PMID:16280445   PMID:16330432  
PMID:16344560   PMID:16351644   PMID:16381901   PMID:16648237   PMID:16885049   PMID:17042772   PMID:17135308   PMID:17276706   PMID:17383046   PMID:17475779   PMID:17486601   PMID:17490902  
PMID:17847004   PMID:17997113   PMID:18160317   PMID:18160816   PMID:18177470   PMID:18586377   PMID:18646536   PMID:18782341   PMID:18820912   PMID:19066423   PMID:19150361   PMID:19234114  
PMID:19589941   PMID:19610021   PMID:19709084   PMID:19759876   PMID:19787796   PMID:19846751   PMID:19937651   PMID:19958990   PMID:20007457   PMID:20019163   PMID:20230395   PMID:20460119  
PMID:20564534   PMID:20587610   PMID:20655381   PMID:20686179   PMID:20688958   PMID:20691492   PMID:20739079   PMID:20817278   PMID:21094556   PMID:21126372   PMID:21199650   PMID:21231898  
PMID:21303654   PMID:21396368   PMID:21607294   PMID:21873635   PMID:22137264   PMID:22170436   PMID:22178646   PMID:22246570   PMID:22249207   PMID:22357659   PMID:22682226   PMID:22682227  
PMID:22776295   PMID:22890139   PMID:23012398   PMID:23065513   PMID:23178444   PMID:23335088   PMID:23630227   PMID:23640881   PMID:23680252   PMID:23784628   PMID:23846698   PMID:23996061  
PMID:24252754   PMID:24304836   PMID:24644245   PMID:24859227   PMID:24867889   PMID:25093806   PMID:25176568   PMID:25284586   PMID:25330009   PMID:25352340   PMID:25441019   PMID:25451081  
PMID:25744489   PMID:25745821   PMID:25805936   PMID:25855377   PMID:25976471   PMID:26125411   PMID:26439863   PMID:26474245   PMID:26560875   PMID:26633544   PMID:26666535   PMID:27067485  
PMID:27302059   PMID:27788496   PMID:27842994   PMID:28027576   PMID:28110135   PMID:28681497   PMID:28826751   PMID:29061069   PMID:29082606   PMID:29154924   PMID:29599243   PMID:29774528  
PMID:30002125   PMID:30082682   PMID:30154413   PMID:30213870   PMID:30500107   PMID:30852438   PMID:31049138   PMID:31318583   PMID:31423010   PMID:31442954   PMID:31554201   PMID:31675496  
PMID:31721611   PMID:31753913   PMID:31761321   PMID:32301493   PMID:32360131   PMID:32534701   PMID:32814342   PMID:33340587   PMID:33341511   PMID:33628376   PMID:33714956   PMID:33804198  
PMID:34203920  


Genomics

Comparative Map Data
SLC40A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2189,560,590 - 189,583,758 (-)EnsemblGRCh38hg38GRCh38
GRCh382189,560,590 - 189,580,811 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372190,425,316 - 190,445,512 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362190,133,561 - 190,153,858 (-)NCBINCBI36hg18NCBI36
Build 342190,250,823 - 190,271,119NCBI
Celera2184,020,234 - 184,040,455 (-)NCBI
Cytogenetic Map2q32.2NCBI
HuRef2182,284,805 - 182,305,032 (-)NCBIHuRef
CHM1_12190,431,102 - 190,451,326 (-)NCBICHM1_1
Slc40a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39145,947,230 - 45,965,690 (-)NCBIGRCm39mm39
GRCm39 Ensembl145,947,228 - 45,965,683 (-)Ensembl
GRCm38145,908,070 - 45,926,532 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl145,908,068 - 45,926,523 (-)EnsemblGRCm38mm10GRCm38
MGSCv37145,964,915 - 45,982,439 (-)NCBIGRCm37mm9NCBIm37
MGSCv36145,852,630 - 45,870,079 (-)NCBImm8
Celera146,240,344 - 46,257,933 (-)NCBICelera
Cytogenetic Map1C1.1NCBI
Slc40a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2948,033,526 - 48,053,876 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl948,033,526 - 48,051,481 (-)Ensembl
Rnor_6.0952,819,451 - 52,830,461 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl952,894,365 - 52,912,293 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0952,560,116 - 52,579,079 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4944,977,430 - 44,995,358 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1944,979,984 - 44,996,778 (-)NCBI
Celera945,700,875 - 45,718,803 (-)NCBICelera
Cytogenetic Map9q22NCBI
Slc40a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554039,253,734 - 9,271,916 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554039,253,734 - 9,271,732 (+)NCBIChiLan1.0ChiLan1.0
SLC40A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B194,787,575 - 194,808,129 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B194,787,575 - 194,810,993 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B76,867,908 - 76,888,403 (-)NCBIMhudiblu_PPA_v0panPan3
SLC40A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.137308,054 - 329,037 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl37303,104 - 368,865 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha371,278,631 - 1,299,609 (-)NCBI
ROS_Cfam_1.037196,731 - 217,705 (-)NCBI
UMICH_Zoey_3.137209,278 - 230,249 (-)NCBI
UNSW_CanFamBas_1.037177,455 - 198,429 (-)NCBI
UU_Cfam_GSD_1.037205,666 - 226,640 (-)NCBI
Slc40a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303148,421,846 - 148,441,474 (-)NCBI
SpeTri2.0NW_0049365068,396,593 - 8,415,069 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC40A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1594,140,725 - 94,168,210 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11594,140,635 - 94,161,793 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215105,177,377 - 105,198,528 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC40A1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11075,076,286 - 75,097,742 (-)NCBI
ChlSab1.1 Ensembl1075,075,971 - 75,096,271 (-)Ensembl
Vero_WHO_p1.0NW_023666040124,382,259 - 124,402,681 (+)NCBI
Slc40a1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624899685,166 - 701,725 (+)NCBI

Position Markers
STS-AA011593  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372190,437,296 - 190,437,487UniSTSGRCh37
Build 362190,145,541 - 190,145,732RGDNCBI36
Celera2184,032,212 - 184,032,403RGD
Cytogenetic Map2q32UniSTS
HuRef2182,296,783 - 182,296,974UniSTS
NCBI RH Map21485.0UniSTS
PMC209405P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372190,439,826 - 190,440,131UniSTSGRCh37
Build 362190,148,071 - 190,148,376RGDNCBI36
Celera2184,034,742 - 184,035,047RGD
Cytogenetic Map2q32UniSTS
HuRef2182,299,314 - 182,299,619UniSTS
A002Q39  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372190,425,387 - 190,425,586UniSTSGRCh37
Build 362190,133,632 - 190,133,831RGDNCBI36
Celera2184,020,305 - 184,020,504RGD
Cytogenetic Map2q32UniSTS
HuRef2182,284,876 - 182,285,075UniSTS
GeneMap99-GB4 RH Map2599.52UniSTS
SLC40A1_8028  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372190,425,208 - 190,425,931UniSTSGRCh37
Build 362190,133,453 - 190,134,176RGDNCBI36
Celera2184,020,126 - 184,020,849RGD
HuRef2182,284,697 - 182,285,420UniSTS
A009X19  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372190,441,760 - 190,441,859UniSTSGRCh37
Build 362190,150,005 - 190,150,104RGDNCBI36
Celera2184,036,676 - 184,036,775RGD
Cytogenetic Map2q32UniSTS
HuRef2182,301,248 - 182,301,347UniSTS
GeneMap99-GB4 RH Map2599.52UniSTS
D2S2575  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372190,426,481 - 190,426,683UniSTSGRCh37
Build 362190,134,726 - 190,134,928RGDNCBI36
Celera2184,021,399 - 184,021,601RGD
Cytogenetic Map2q32UniSTS
HuRef2182,285,970 - 182,286,172UniSTS
TNG Radiation Hybrid Map2104502.0UniSTS
GeneMap99-G3 RH Map28613.0UniSTS
RH36364  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372190,429,841 - 190,429,950UniSTSGRCh37
Build 362190,138,086 - 190,138,195RGDNCBI36
Celera2184,024,759 - 184,024,868RGD
Cytogenetic Map2q32UniSTS
HuRef2182,289,330 - 182,289,439UniSTS
GeneMap99-GB4 RH Map2599.63UniSTS
WI-16551  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372190,425,675 - 190,425,789UniSTSGRCh37
Build 362190,133,920 - 190,134,034RGDNCBI36
Celera2184,020,593 - 184,020,707RGD
Cytogenetic Map2q32UniSTS
HuRef2182,285,164 - 182,285,278UniSTS
GeneMap99-GB4 RH Map2599.52UniSTS
Whitehead-RH Map2929.5UniSTS
RH16273  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372190,441,653 - 190,441,812UniSTSGRCh37
Build 362190,149,898 - 190,150,057RGDNCBI36
Celera2184,036,569 - 184,036,728RGD
Cytogenetic Map2q32UniSTS
HuRef2182,301,141 - 182,301,300UniSTS
GeneMap99-GB4 RH Map2599.52UniSTS
SGC34910  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372190,441,589 - 190,441,715UniSTSGRCh37
Build 362190,149,834 - 190,149,960RGDNCBI36
Celera2184,036,505 - 184,036,631RGD
Cytogenetic Map2q32UniSTS
HuRef2182,301,077 - 182,301,203UniSTS
GeneMap99-GB4 RH Map2618.12UniSTS
Whitehead-RH Map2927.3UniSTS
NCBI RH Map21482.1UniSTS
G32943  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372190,441,760 - 190,441,859UniSTSGRCh37
Celera2184,036,676 - 184,036,775UniSTS
Cytogenetic Map2q32UniSTS
HuRef2182,301,248 - 182,301,347UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1131
Count of miRNA genes:760
Interacting mature miRNAs:862
Transcripts:ENST00000261024, ENST00000418714, ENST00000427241, ENST00000427419, ENST00000440626, ENST00000455320, ENST00000479598
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 22 13
Medium 2214 2399 1670 605 1061 452 3395 1780 1234 354 1311 1452 157 1172 2343 4
Low 197 582 26 16 375 11 817 402 2456 48 99 118 8 32 445
Below cutoff 8 2 203 100 2 10 11 15 21 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC013439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF147322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF171087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF215636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF226614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF231121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ604512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ609539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ609540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ616847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ616848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK002038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ977117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR533564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA806565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ065759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ065760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ065761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ065762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ065763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ065764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FN868932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT152236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000261024   ⟹   ENSP00000261024
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2189,560,590 - 189,580,786 (-)Ensembl
RefSeq Acc Id: ENST00000418714
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2189,575,161 - 189,580,783 (-)Ensembl
RefSeq Acc Id: ENST00000427241   ⟹   ENSP00000390005
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2189,565,513 - 189,583,758 (-)Ensembl
RefSeq Acc Id: ENST00000427419   ⟹   ENSP00000392730
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2189,579,848 - 189,582,022 (-)Ensembl
RefSeq Acc Id: ENST00000440626   ⟹   ENSP00000396134
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2189,579,848 - 189,583,402 (-)Ensembl
RefSeq Acc Id: ENST00000455320   ⟹   ENSP00000413549
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2189,575,266 - 189,582,031 (-)Ensembl
RefSeq Acc Id: ENST00000479598
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2189,572,521 - 189,580,741 (-)Ensembl
RefSeq Acc Id: NM_014585   ⟹   NP_055400
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,560,590 - 189,580,786 (-)NCBI
GRCh372190,425,316 - 190,448,478 (-)NCBI
Build 362190,133,561 - 190,153,858 (-)NCBI Archive
HuRef2182,284,805 - 182,305,032 (-)ENTREZGENE
CHM1_12190,431,102 - 190,451,326 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005246505   ⟹   XP_005246562
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,560,846 - 189,580,811 (-)NCBI
GRCh372190,425,316 - 190,448,478 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003938   ⟹   XP_016859427
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,560,846 - 189,580,806 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_055400 (Get FASTA)   NCBI Sequence Viewer  
  XP_005246562 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859427 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF36697 (Get FASTA)   NCBI Sequence Viewer  
  AAF44330 (Get FASTA)   NCBI Sequence Viewer  
  AAF80986 (Get FASTA)   NCBI Sequence Viewer  
  AAH35893 (Get FASTA)   NCBI Sequence Viewer  
  AAH37733 (Get FASTA)   NCBI Sequence Viewer  
  AAQ13603 (Get FASTA)   NCBI Sequence Viewer  
  AAX93082 (Get FASTA)   NCBI Sequence Viewer  
  AAY78556 (Get FASTA)   NCBI Sequence Viewer  
  AAY78557 (Get FASTA)   NCBI Sequence Viewer  
  AAY78558 (Get FASTA)   NCBI Sequence Viewer  
  AAY78559 (Get FASTA)   NCBI Sequence Viewer  
  AAY78560 (Get FASTA)   NCBI Sequence Viewer  
  AAY78561 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46443 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46444 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46445 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46446 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46447 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46448 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46449 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46450 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46451 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46452 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46453 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46454 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46455 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46456 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46457 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46458 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46459 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46460 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46461 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46462 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46463 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46464 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46465 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46466 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46467 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46468 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46469 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46470 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46471 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46472 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46473 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46474 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46475 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46476 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46477 (Get FASTA)   NCBI Sequence Viewer  
  ANQ46478 (Get FASTA)   NCBI Sequence Viewer  
  BAA92049 (Get FASTA)   NCBI Sequence Viewer  
  BAD96956 (Get FASTA)   NCBI Sequence Viewer  
  BAF84835 (Get FASTA)   NCBI Sequence Viewer  
  BAG37348 (Get FASTA)   NCBI Sequence Viewer  
  CAB66878 (Get FASTA)   NCBI Sequence Viewer  
  CAE53170 (Get FASTA)   NCBI Sequence Viewer  
  CAE81347 (Get FASTA)   NCBI Sequence Viewer  
  CAE81348 (Get FASTA)   NCBI Sequence Viewer  
  CAE83578 (Get FASTA)   NCBI Sequence Viewer  
  CAG38595 (Get FASTA)   NCBI Sequence Viewer  
  CAI45360 (Get FASTA)   NCBI Sequence Viewer  
  CBM40849 (Get FASTA)   NCBI Sequence Viewer  
  EAX10901 (Get FASTA)   NCBI Sequence Viewer  
  EAX10902 (Get FASTA)   NCBI Sequence Viewer  
  Q9NP59 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_055400   ⟸   NM_014585
- UniProtKB: Q9NP59 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005246562   ⟸   XM_005246505
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016859427   ⟸   XM_017003938
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000392730   ⟸   ENST00000427419
RefSeq Acc Id: ENSP00000390005   ⟸   ENST00000427241
RefSeq Acc Id: ENSP00000396134   ⟸   ENST00000440626
RefSeq Acc Id: ENSP00000413549   ⟸   ENST00000455320
RefSeq Acc Id: ENSP00000261024   ⟸   ENST00000261024

Promoters
RGD ID:6862312
Promoter ID:EPDNEW_H4321
Type:multiple initiation site
Name:SLC40A1_1
Description:solute carrier family 40 member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4322  EPDNEW_H4323  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,580,783 - 189,580,843EPDNEW
RGD ID:6862314
Promoter ID:EPDNEW_H4322
Type:initiation region
Name:SLC40A1_2
Description:solute carrier family 40 member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4321  EPDNEW_H4323  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,581,990 - 189,582,050EPDNEW
RGD ID:6862316
Promoter ID:EPDNEW_H4323
Type:initiation region
Name:SLC40A1_3
Description:solute carrier family 40 member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4321  EPDNEW_H4322  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,583,402 - 189,583,462EPDNEW
RGD ID:6811962
Promoter ID:HG_ACW:46990
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:SLC40A1.HAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 362190,136,616 - 190,137,116 (-)MPROMDB
RGD ID:6798202
Promoter ID:HG_KWN:36333
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000255916,   OTTHUMT00000335043,   OTTHUMT00000335044,   UC002UQQ.2
Position:
Human AssemblyChrPosition (strand)Source
Build 362190,153,806 - 190,154,427 (-)MPROMDB
RGD ID:6798185
Promoter ID:HG_KWN:36334
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000335039,   OTTHUMT00000335040
Position:
Human AssemblyChrPosition (strand)Source
Build 362190,154,716 - 190,155,216 (-)MPROMDB
RGD ID:6798203
Promoter ID:HG_KWN:36335
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000335038,   UC002UQR.1,   UC002UQS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362190,156,216 - 190,156,716 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014585.5(SLC40A1):c.430A>C (p.Asn144His) single nucleotide variant Hemochromatosis type 4 [RCV000005743] Chr2:189571799 [GRCh38]
Chr2:190436525 [GRCh37]
Chr2:2q32.2
pathogenic
NM_014585.5(SLC40A1):c.230C>A (p.Ala77Asp) single nucleotide variant Hemochromatosis type 4 [RCV000005744] Chr2:189575202 [GRCh38]
Chr2:190439928 [GRCh37]
Chr2:2q32.2
pathogenic
NM_014585.5(SLC40A1):c.470A>G (p.Asp157Gly) single nucleotide variant Hemochromatosis type 4 [RCV000005745] Chr2:189571759 [GRCh38]
Chr2:190436485 [GRCh37]
Chr2:2q32.2
pathogenic|likely pathogenic
NM_014585.5(SLC40A1):c.546G>T (p.Gln182His) single nucleotide variant Hemochromatosis type 4 [RCV000005746] Chr2:189565568 [GRCh38]
Chr2:190430294 [GRCh37]
Chr2:2q32.2
pathogenic
NM_014585.6(SLC40A1):c.476TTG[3] (p.Val162del) microsatellite Hemochromatosis type 4 [RCV000005747] Chr2:189571742..189571744 [GRCh38]
Chr2:190436468..190436470 [GRCh37]
Chr2:2q32.2
pathogenic|likely pathogenic
NM_014585.5(SLC40A1):c.968G>T (p.Gly323Val) single nucleotide variant Hemochromatosis type 4 [RCV000005748] Chr2:189564018 [GRCh38]
Chr2:190428744 [GRCh37]
Chr2:2q32.2
pathogenic
NM_014585.5(SLC40A1):c.542A>T (p.Asp181Val) single nucleotide variant Hemochromatosis type 4 [RCV000005749] Chr2:189565572 [GRCh38]
Chr2:190430298 [GRCh37]
Chr2:2q32.2
pathogenic
NM_014585.5(SLC40A1):c.239G>T (p.Gly80Val) single nucleotide variant Hemochromatosis type 4 [RCV000005750] Chr2:189575193 [GRCh38]
Chr2:190439919 [GRCh37]
Chr2:2q32.2
pathogenic
NM_014585.5(SLC40A1):c.800G>A (p.Gly267Asp) single nucleotide variant Hemochromatosis type 4 [RCV000005751] Chr2:189564186 [GRCh38]
Chr2:190428912 [GRCh37]
Chr2:2q32.2
pathogenic|likely pathogenic
NM_014585.5(SLC40A1):c.1252A>G (p.Ile418Val) single nucleotide variant Hemochromatosis type 4 [RCV000641708] Chr2:189563734 [GRCh38]
Chr2:190428460 [GRCh37]
Chr2:2q32.2
benign|uncertain significance
NM_014585.5(SLC40A1):c.541G>A (p.Asp181Asn) single nucleotide variant Hemochromatosis type 4 [RCV000584744] Chr2:189565573 [GRCh38]
Chr2:190430299 [GRCh37]
Chr2:2q32.2
pathogenic
NM_014585.5(SLC40A1):c.1112G>A (p.Arg371Gln) single nucleotide variant not provided [RCV000049564] Chr2:189563874 [GRCh38]
Chr2:190428600 [GRCh37]
Chr2:2q32.2
uncertain significance|not provided
NM_014585.5(SLC40A1):c.262A>G (p.Arg88Gly) single nucleotide variant Hemochromatosis type 4 [RCV001420126]|not provided [RCV000049565] Chr2:189575170 [GRCh38]
Chr2:190439896 [GRCh37]
Chr2:2q32.2
likely pathogenic|not provided
NM_014585.5(SLC40A1):c.473G>T (p.Trp158Leu) single nucleotide variant not provided [RCV000049566] Chr2:189571756 [GRCh38]
Chr2:190436482 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.5(SLC40A1):c.553A>G (p.Asn185Asp) single nucleotide variant not provided [RCV000049567] Chr2:189565561 [GRCh38]
Chr2:190430287 [GRCh37]
Chr2:2q32.2
not provided
NM_014585.5(SLC40A1):c.610G>A (p.Gly204Ser) single nucleotide variant Hemochromatosis type 4 [RCV000641707]|not provided [RCV000049568] Chr2:189565504 [GRCh38]
Chr2:190430230 [GRCh37]
Chr2:2q32.2
likely pathogenic|not provided
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 copy number loss See cases [RCV000050980] Chr2:174898848..203941548 [GRCh38]
Chr2:175763576..204806271 [GRCh37]
Chr2:175471822..204514516 [NCBI36]
Chr2:2q31.1-33.2
pathogenic
GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1 copy number loss See cases [RCV000052558] Chr2:176304445..202039790 [GRCh38]
Chr2:177169173..202904513 [GRCh37]
Chr2:176877419..202612758 [NCBI36]
Chr2:2q31.1-33.1
pathogenic
GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1 copy number loss See cases [RCV000052559] Chr2:177874070..198525492 [GRCh38]
Chr2:178738797..199390216 [GRCh37]
Chr2:178447043..199098461 [NCBI36]
Chr2:2q31.2-33.1
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
NM_014585.5(SLC40A1):c.387C>T (p.Leu129=) single nucleotide variant Hemochromatosis type 4 [RCV000473524] Chr2:189572846 [GRCh38]
Chr2:190437572 [GRCh37]
Chr2:2q32.2
benign
GRCh38/hg38 2q32.2(chr2:189442378-189689554)x3 copy number gain See cases [RCV000135139] Chr2:189442378..189689554 [GRCh38]
Chr2:190307104..190554280 [GRCh37]
Chr2:190015349..190262525 [NCBI36]
Chr2:2q32.2
likely benign
GRCh38/hg38 2q32.2(chr2:188947503-189689613)x1 copy number loss See cases [RCV000135772] Chr2:188947503..189689613 [GRCh38]
Chr2:189812229..190554339 [GRCh37]
Chr2:189520474..190262584 [NCBI36]
Chr2:2q32.2
pathogenic
GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1 copy number loss See cases [RCV000135876] Chr2:186027472..201059372 [GRCh38]
Chr2:186892199..201924095 [GRCh37]
Chr2:186600444..201632340 [NCBI36]
Chr2:2q32.1-33.1
pathogenic
GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1 copy number loss See cases [RCV000138253] Chr2:181758701..192015392 [GRCh38]
Chr2:182623428..192880118 [GRCh37]
Chr2:182331673..192588363 [NCBI36]
Chr2:2q31.3-32.3
pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2
pathogenic
GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1 copy number loss See cases [RCV000141735] Chr2:177827730..195125329 [GRCh38]
Chr2:178692457..195990053 [GRCh37]
Chr2:178400703..195698298 [NCBI36]
Chr2:2q31.2-32.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1 copy number loss See cases [RCV000143484] Chr2:176086763..193201970 [GRCh38]
Chr2:176951491..194066696 [GRCh37]
Chr2:176659737..193774941 [NCBI36]
Chr2:2q31.1-32.3
pathogenic
NP_055400.1(SLC40A1):p.Gln248His protein only Hemochromatosis type 4 [RCV000190908] Chr2:2q32.2 pathogenic|likely pathogenic
NM_014585.5(SLC40A1):c.809A>T (p.Asp270Val) single nucleotide variant Hemochromatosis type 4 [RCV000190909] Chr2:189564177 [GRCh38]
Chr2:190428903 [GRCh37]
Chr2:2q32.2
pathogenic|likely benign
NM_014585.5(SLC40A1):c.388-14T>A single nucleotide variant Hemochromatosis type 4 [RCV000396660] Chr2:189571855 [GRCh38]
Chr2:190436581 [GRCh37]
Chr2:2q32.2
benign|likely benign
NM_014585.5(SLC40A1):c.744G>T (p.Gln248His) single nucleotide variant Hemochromatosis type 4 [RCV000467098] Chr2:189565370 [GRCh38]
Chr2:190430096 [GRCh37]
Chr2:2q32.2
benign|likely benign
NM_014585.5(SLC40A1):c.1520A>G (p.His507Arg) single nucleotide variant Hemochromatosis type 4 [RCV000195827] Chr2:189562074 [GRCh38]
Chr2:190426800 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.5(SLC40A1):c.1570G>A (p.Val524Ile) single nucleotide variant Hemochromatosis type 4 [RCV000551419] Chr2:189562024 [GRCh38]
Chr2:190426750 [GRCh37]
Chr2:2q32.2
conflicting interpretations of pathogenicity|uncertain significance
NM_014585.5(SLC40A1):c.1132T>C (p.Leu378=) single nucleotide variant Hemochromatosis type 4 [RCV000279791] Chr2:189563854 [GRCh38]
Chr2:190428580 [GRCh37]
Chr2:2q32.2
benign|likely benign
NM_014585.5(SLC40A1):c.1481G>A (p.Gly494Asp) single nucleotide variant Hemochromatosis type 4 [RCV000584750] Chr2:189562113 [GRCh38]
Chr2:190426839 [GRCh37]
Chr2:2q32.2
pathogenic
NM_014585.6(SLC40A1):c.476TTG[5] (p.Val162dup) microsatellite Hemochromatosis type 4 [RCV000228507] Chr2:189571741..189571742 [GRCh38]
Chr2:190436467..190436468 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.5(SLC40A1):c.430A>T (p.Asn144Tyr) single nucleotide variant Hemochromatosis type 4 [RCV000234752] Chr2:189571799 [GRCh38]
Chr2:190436525 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.5(SLC40A1):c.327C>T (p.Ile109=) single nucleotide variant Hemochromatosis type 4 [RCV000557015] Chr2:189572906 [GRCh38]
Chr2:190437632 [GRCh37]
Chr2:2q32.2
benign
NM_014585.5(SLC40A1):c.271+10_271+12del microsatellite Hemochromatosis type 4 [RCV001453244]|Hereditary hemochromatosis [RCV000306695]|not provided [RCV000641712] Chr2:189575149..189575151 [GRCh38]
Chr2:190439875..190439877 [GRCh37]
Chr2:2q32.2
likely benign
NM_014585.5(SLC40A1):c.760+14A>G single nucleotide variant Hemochromatosis type 4 [RCV000335114] Chr2:189565340 [GRCh38]
Chr2:190430066 [GRCh37]
Chr2:2q32.2
benign|likely benign
NM_014585.5(SLC40A1):c.609C>T (p.Ile203=) single nucleotide variant Hemochromatosis type 4 [RCV000862121]|not provided [RCV001090647] Chr2:189565505 [GRCh38]
Chr2:190430231 [GRCh37]
Chr2:2q32.2
likely benign
GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1 copy number loss See cases [RCV000239432] Chr2:177315153..196375520 [GRCh37]
Chr2:2q31.1-32.3
pathogenic
NM_014585.5(SLC40A1):c.-8C>G single nucleotide variant Hemochromatosis type 4 [RCV000366059]|not specified [RCV000250997] Chr2:189580468 [GRCh38]
Chr2:190445194 [GRCh37]
Chr2:2q32.2
benign
NM_014585.5(SLC40A1):c.-344C>G single nucleotide variant Hemochromatosis type 4 [RCV000284316] Chr2:189580804 [GRCh38]
Chr2:190445530 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.5(SLC40A1):c.-14G>C single nucleotide variant Hemochromatosis type 4 [RCV000271042] Chr2:189580474 [GRCh38]
Chr2:190445200 [GRCh37]
Chr2:2q32.2
likely benign|uncertain significance
NM_014585.5(SLC40A1):c.-98G>C single nucleotide variant Hemochromatosis type 4 [RCV000277418]|not specified [RCV000242987] Chr2:189580558 [GRCh38]
Chr2:190445284 [GRCh37]
Chr2:2q32.2
benign
NM_014585.5(SLC40A1):c.663T>C (p.Val221=) single nucleotide variant Hemochromatosis type 4 [RCV000860061]|not specified [RCV000247963] Chr2:189565451 [GRCh38]
Chr2:190430177 [GRCh37]
Chr2:2q32.2
benign
NM_014585.5(SLC40A1):c.*289G>T single nucleotide variant Hemochromatosis type 4 [RCV000273078] Chr2:189561589 [GRCh38]
Chr2:190426315 [GRCh37]
Chr2:2q32.2
benign
NM_014585.5(SLC40A1):c.1569C>T (p.Leu523=) single nucleotide variant Hemochromatosis type 4 [RCV000333907] Chr2:189562025 [GRCh38]
Chr2:190426751 [GRCh37]
Chr2:2q32.2
benign|likely benign|uncertain significance
NM_014585.5(SLC40A1):c.*1130A>G single nucleotide variant Hemochromatosis type 4 [RCV000400963] Chr2:189560748 [GRCh38]
Chr2:190425474 [GRCh37]
Chr2:2q32.2
benign
NM_014585.5(SLC40A1):c.*1123C>T single nucleotide variant Hemochromatosis type 4 [RCV000302707] Chr2:189560755 [GRCh38]
Chr2:190425481 [GRCh37]
Chr2:2q32.2
benign|likely benign
NM_014585.5(SLC40A1):c.1654G>A (p.Ala552Thr) single nucleotide variant Hemochromatosis type 4 [RCV000865939] Chr2:189561940 [GRCh38]
Chr2:190426666 [GRCh37]
Chr2:2q32.2
benign|likely benign
NM_014585.5(SLC40A1):c.1483G>A (p.Val495Ile) single nucleotide variant Hemochromatosis type 4 [RCV000388411] Chr2:189562111 [GRCh38]
Chr2:190426837 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.5(SLC40A1):c.*420_*421del deletion Hereditary hemochromatosis [RCV000327116] Chr2:189561457..189561458 [GRCh38]
Chr2:190426183..190426184 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.5(SLC40A1):c.-31C>G single nucleotide variant Hemochromatosis type 4 [RCV000367293] Chr2:189580491 [GRCh38]
Chr2:190445217 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.5(SLC40A1):c.*50G>A single nucleotide variant Hemochromatosis type 4 [RCV000328263] Chr2:189561828 [GRCh38]
Chr2:190426554 [GRCh37]
Chr2:2q32.2
benign|likely benign
NM_014585.5(SLC40A1):c.-23A>G single nucleotide variant Hemochromatosis type 4 [RCV000312068] Chr2:189580483 [GRCh38]
Chr2:190445209 [GRCh37]
Chr2:2q32.2
benign|likely benign
NM_014585.5(SLC40A1):c.-312_-310dupCGG microsatellite Hereditary hemochromatosis [RCV000259537] Chr2:189580769..189580770 [GRCh38]
Chr2:190445495..190445496 [GRCh37]
Chr2:2q32.2
benign
NM_014585.5(SLC40A1):c.-315_-310dupCGGCGG microsatellite Hereditary hemochromatosis [RCV000319381] Chr2:189580769..189580770 [GRCh38]
Chr2:190445495..190445496 [GRCh37]
Chr2:2q32.2
benign
NM_014585.5(SLC40A1):c.*735dup duplication Hereditary hemochromatosis [RCV000362015] Chr2:189561142..189561143 [GRCh38]
Chr2:190425868..190425869 [GRCh37]
Chr2:2q32.2
likely benign
NM_014585.5(SLC40A1):c.-318_-310dupCGGCGGCGG microsatellite Hereditary hemochromatosis [RCV000374128] Chr2:189580769..189580770 [GRCh38]
Chr2:190445495..190445496 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.5(SLC40A1):c.*646C>T single nucleotide variant Hemochromatosis type 4 [RCV000267321] Chr2:189561232 [GRCh38]
Chr2:190425958 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.5(SLC40A1):c.1049C>A (p.Ala350Asp) single nucleotide variant Hemochromatosis type 4 [RCV000584743] Chr2:189563937 [GRCh38]
Chr2:190428663 [GRCh37]
Chr2:2q32.2
pathogenic
NM_014585.5(SLC40A1):c.*309G>A single nucleotide variant Hemochromatosis type 4 [RCV000363037] Chr2:189561569 [GRCh38]
Chr2:190426295 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.5(SLC40A1):c.-354G>T single nucleotide variant Hereditary hemochromatosis [RCV000315913] Chr2:189580814 [GRCh38]
Chr2:190445540 [GRCh37]
Chr2:2q32.2
likely benign
NM_014585.5(SLC40A1):c.-201T>G single nucleotide variant Hemochromatosis type 4 [RCV000332358] Chr2:189580661 [GRCh38]
Chr2:190445387 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.5(SLC40A1):c.-253C>A single nucleotide variant Hemochromatosis type 4 [RCV000373050] Chr2:189580713 [GRCh38]
Chr2:190445439 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.5(SLC40A1):c.544C>G (p.Gln182Glu) single nucleotide variant Hemochromatosis type 4 [RCV000584746] Chr2:189565570 [GRCh38]
Chr2:190430296 [GRCh37]
Chr2:2q32.2
pathogenic
NM_014585.5(SLC40A1):c.289G>A (p.Val97Met) single nucleotide variant Hemochromatosis type 4 [RCV000396650] Chr2:189572944 [GRCh38]
Chr2:190437670 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.5(SLC40A1):c.479T>C (p.Val160Ala) single nucleotide variant Hemochromatosis type 4 [RCV000584752] Chr2:189571750 [GRCh38]
Chr2:190436476 [GRCh37]
Chr2:2q32.2
pathogenic
NM_014585.5(SLC40A1):c.1203C>T (p.Ser401=) single nucleotide variant Hemochromatosis type 4 [RCV000641711] Chr2:189563783 [GRCh38]
Chr2:190428509 [GRCh37]
Chr2:2q32.2
benign
NM_014585.5(SLC40A1):c.263G>C (p.Arg88Thr) single nucleotide variant not provided [RCV000435183] Chr2:189575169 [GRCh38]
Chr2:190439895 [GRCh37]
Chr2:2q32.2
likely pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35
pathogenic
NM_014585.5(SLC40A1):c.524C>A (p.Ala175Asp) single nucleotide variant Hemochromatosis type 4 [RCV000472101] Chr2:189565590 [GRCh38]
Chr2:190430316 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.5(SLC40A1):c.1469G>A (p.Gly490Asp) single nucleotide variant Hemochromatosis type 4 [RCV000457416] Chr2:189562125 [GRCh38]
Chr2:190426851 [GRCh37]
Chr2:2q32.2
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_014585.5(SLC40A1):c.-205A>C single nucleotide variant Hemochromatosis type 4 [RCV000584749] Chr2:189580665 [GRCh38]
Chr2:190445391 [GRCh37]
Chr2:2q32.2
pathogenic
NC_000002.12:g.(?_188974470)_(189580480_?)del deletion Ehlers-Danlos syndrome, type 4 [RCV000634741] Chr2:188974470..189580480 [GRCh38]
Chr2:189839196..190445206 [GRCh37]
Chr2:2q32.2
pathogenic
NM_014585.5(SLC40A1):c.1681A>G (p.Arg561Gly) single nucleotide variant Hemochromatosis type 4 [RCV000641710] Chr2:189561913 [GRCh38]
Chr2:190426639 [GRCh37]
Chr2:2q32.2
benign
NM_014585.5(SLC40A1):c.1402+10C>A single nucleotide variant Hemochromatosis type 4 [RCV000641709] Chr2:189563574 [GRCh38]
Chr2:190428300 [GRCh37]
Chr2:2q32.2
likely benign
NM_014585.5(SLC40A1):c.474G>T (p.Trp158Cys) single nucleotide variant Hemochromatosis type 4 [RCV000689049] Chr2:189571755 [GRCh38]
Chr2:190436481 [GRCh37]
Chr2:2q32.2
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q32.2-33.1(chr2:189490490-200615496)x1 copy number loss not provided [RCV000740789] Chr2:189490490..200615496 [GRCh37]
Chr2:2q32.2-33.1
pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2
pathogenic
NM_014585.6(SLC40A1):c.192C>T (p.Tyr64=) single nucleotide variant Hemochromatosis type 4 [RCV001139635]|not provided [RCV000863202] Chr2:189575240 [GRCh38]
Chr2:190439966 [GRCh37]
Chr2:2q32.2
benign
NM_014585.6(SLC40A1):c.43+9C>T single nucleotide variant Hemochromatosis type 4 [RCV000926773] Chr2:189580409 [GRCh38]
Chr2:190445135 [GRCh37]
Chr2:2q32.2
likely benign
NM_014585.6(SLC40A1):c.271+6T>A single nucleotide variant Hemochromatosis type 4 [RCV001061267] Chr2:189575155 [GRCh38]
Chr2:190439881 [GRCh37]
Chr2:2q32.2
uncertain significance
NC_000002.12:g.(?_188974480)_(189580648_?)del deletion Ehlers-Danlos syndrome, classic type [RCV001386250]|Ehlers-Danlos syndrome, type 4 [RCV001031462] Chr2:189839206..190445374 [GRCh37]
Chr2:2q32.2
pathogenic
NM_014585.5(SLC40A1):c.957del (p.Met319fs) deletion Hemochromatosis type 4 [RCV000778580] Chr2:189564029 [GRCh38]
Chr2:190428755 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.6(SLC40A1):c.1533C>T (p.Val511=) single nucleotide variant Hemochromatosis type 4 [RCV000943070] Chr2:189562061 [GRCh38]
Chr2:190426787 [GRCh37]
Chr2:2q32.2
likely benign
NM_014585.6(SLC40A1):c.69T>C (p.Ser23=) single nucleotide variant Hemochromatosis type 4 [RCV000874676] Chr2:189579855 [GRCh38]
Chr2:190444581 [GRCh37]
Chr2:2q32.2
likely benign
NM_014585.6(SLC40A1):c.912C>T (p.Asn304=) single nucleotide variant Hemochromatosis type 4 [RCV001423257]|not provided [RCV000862595] Chr2:189564074 [GRCh38]
Chr2:190428800 [GRCh37]
Chr2:2q32.2
likely benign
GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1 copy number loss not provided [RCV001005359] Chr2:174690039..195521582 [GRCh37]
Chr2:2q31.1-32.3
pathogenic
NM_014585.6(SLC40A1):c.1413C>G (p.Ser471=) single nucleotide variant Hemochromatosis type 4 [RCV001426433]|not provided [RCV000869714] Chr2:189562181 [GRCh38]
Chr2:190426907 [GRCh37]
Chr2:2q32.2
likely benign
NM_014585.6(SLC40A1):c.1403-7A>G single nucleotide variant Hemochromatosis type 4 [RCV001405888]|not provided [RCV000869758] Chr2:189562198 [GRCh38]
Chr2:190426924 [GRCh37]
Chr2:2q32.2
likely benign
NM_014585.6(SLC40A1):c.430A>G (p.Asn144Asp) single nucleotide variant Hemochromatosis type 1 [RCV000986959] Chr2:189571799 [GRCh38]
Chr2:190436525 [GRCh37]
Chr2:2q32.2
pathogenic
NM_014585.6(SLC40A1):c.1384G>A (p.Val462Ile) single nucleotide variant Hemochromatosis type 4 [RCV001142133]|not provided [RCV000997630] Chr2:189563602 [GRCh38]
Chr2:190428328 [GRCh37]
Chr2:2q32.2
uncertain significance
GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1 copy number loss not provided [RCV000848216] Chr2:167329586..192756373 [GRCh37]
Chr2:2q24.3-32.3
pathogenic
NM_014585.6(SLC40A1):c.695C>A (p.Ala232Asp) single nucleotide variant Hemochromatosis type 1 [RCV000986958]|Hemochromatosis type 4 [RCV001137399] Chr2:189565419 [GRCh38]
Chr2:190430145 [GRCh37]
Chr2:2q32.2
uncertain significance
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34
pathogenic
NM_014585.6(SLC40A1):c.365C>T (p.Thr122Ile) single nucleotide variant Hemochromatosis type 4 [RCV001046385] Chr2:189572868 [GRCh38]
Chr2:190437594 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.6(SLC40A1):c.1592T>C (p.Val531Ala) single nucleotide variant Hemochromatosis type 4 [RCV001250717] Chr2:189562002 [GRCh38]
Chr2:190426728 [GRCh37]
Chr2:2q32.2
pathogenic
NM_014585.6(SLC40A1):c.626C>T (p.Ser209Leu) single nucleotide variant Hemochromatosis type 4 [RCV001223419] Chr2:189565488 [GRCh38]
Chr2:190430214 [GRCh37]
Chr2:2q32.2
pathogenic
NM_014585.6(SLC40A1):c.190T>C (p.Tyr64His) single nucleotide variant Hemochromatosis type 4 [RCV001228946] Chr2:189575242 [GRCh38]
Chr2:190439968 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.6(SLC40A1):c.92G>A (p.Gly31Asp) single nucleotide variant Hemochromatosis type 4 [RCV001139636] Chr2:189579832 [GRCh38]
Chr2:190444558 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.6(SLC40A1):c.*128A>G single nucleotide variant Hemochromatosis type 4 [RCV001140296] Chr2:189561750 [GRCh38]
Chr2:190426476 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.6(SLC40A1):c.-28A>T single nucleotide variant Hemochromatosis type 4 [RCV001140395] Chr2:189580488 [GRCh38]
Chr2:190445214 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.6(SLC40A1):c.697C>G (p.Leu233Val) single nucleotide variant Hemochromatosis type 4 [RCV001204731] Chr2:189565417 [GRCh38]
Chr2:190430143 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.6(SLC40A1):c.1250_1251insGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGCATTCAAGGAGAGTC (p.Ile418_Thr419insThrArgThrValTer) insertion Hemochromatosis type 4 [RCV001579307] Chr2:189563735..189563736 [GRCh38]
Chr2:190428461..190428462 [GRCh37]
Chr2:2q32.2
likely pathogenic
NM_014585.6(SLC40A1):c.1263_1264insGTGAGATTGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGCATTCAAGGAGAGTCAATTACACCTACC (p.Lys422delinsValArgLeuThrArgThrValTer) insertion Hemochromatosis type 4 [RCV001579308] Chr2:189563722..189563723 [GRCh38]
Chr2:190428448..190428449 [GRCh37]
Chr2:2q32.2
likely pathogenic
NM_014585.6(SLC40A1):c.1294A>G (p.Met432Val) single nucleotide variant Hemochromatosis type 4 [RCV000860735] Chr2:189563692 [GRCh38]
Chr2:190428418 [GRCh37]
Chr2:2q32.2
benign
NM_014585.6(SLC40A1):c.718_720del (p.Lys240del) deletion Hemochromatosis type 4 [RCV000866416] Chr2:189565394..189565396 [GRCh38]
Chr2:190430120..190430122 [GRCh37]
Chr2:2q32.2
likely benign
NM_014585.6(SLC40A1):c.1008A>G (p.Gly336=) single nucleotide variant Hemochromatosis type 4 [RCV000981376] Chr2:189563978 [GRCh38]
Chr2:190428704 [GRCh37]
Chr2:2q32.2
likely benign
NM_014585.6(SLC40A1):c.1328C>T (p.Pro443Leu) single nucleotide variant Hemochromatosis type 4 [RCV000865209] Chr2:189563658 [GRCh38]
Chr2:190428384 [GRCh37]
Chr2:2q32.2
benign
NM_014585.6(SLC40A1):c.1357A>T (p.Ile453Phe) single nucleotide variant Hemochromatosis type 4 [RCV001142134]|not provided [RCV001357553] Chr2:189563629 [GRCh38]
Chr2:190428355 [GRCh37]
Chr2:2q32.2
likely benign|uncertain significance
NM_014585.6(SLC40A1):c.*1187T>G single nucleotide variant Hemochromatosis type 4 [RCV001139533] Chr2:189560691 [GRCh38]
Chr2:190425417 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.6(SLC40A1):c.1700A>G (p.Asn567Ser) single nucleotide variant not provided [RCV001093166] Chr2:189561894 [GRCh38]
Chr2:190426620 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.6(SLC40A1):c.*833T>C single nucleotide variant Hemochromatosis type 4 [RCV001139535] Chr2:189561045 [GRCh38]
Chr2:190425771 [GRCh37]
Chr2:2q32.2
benign
NM_014585.6(SLC40A1):c.235A>G (p.Ile79Val) single nucleotide variant Hemochromatosis type 4 [RCV001139634] Chr2:189575197 [GRCh38]
Chr2:190439923 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.6(SLC40A1):c.139T>C (p.Ser47Pro) single nucleotide variant not provided [RCV001027529] Chr2:189575293 [GRCh38]
Chr2:190440019 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.6(SLC40A1):c.546G>A (p.Gln182=) single nucleotide variant Hemochromatosis type 4 [RCV001137401] Chr2:189565568 [GRCh38]
Chr2:190430294 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.6(SLC40A1):c.646A>G (p.Met216Val) single nucleotide variant Hemochromatosis type 4 [RCV001137400] Chr2:189565468 [GRCh38]
Chr2:190430194 [GRCh37]
Chr2:2q32.2
benign
NM_014585.6(SLC40A1):c.521A>G (p.Asn174Ser) single nucleotide variant Hemochromatosis type 4 [RCV001205916] Chr2:189565593 [GRCh38]
Chr2:190430319 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.6(SLC40A1):c.373C>A (p.His125Asn) single nucleotide variant Hemochromatosis type 4 [RCV001211436] Chr2:189572860 [GRCh38]
Chr2:190437586 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.6(SLC40A1):c.*1000A>T single nucleotide variant Hemochromatosis type 4 [RCV001139534] Chr2:189560878 [GRCh38]
Chr2:190425604 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.6(SLC40A1):c.272-14C>T single nucleotide variant Hemochromatosis type 4 [RCV001139633] Chr2:189572975 [GRCh38]
Chr2:190437701 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.6(SLC40A1):c.1035G>A (p.Leu345=) single nucleotide variant Hemochromatosis type 4 [RCV001142135] Chr2:189563951 [GRCh38]
Chr2:190428677 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.6(SLC40A1):c.533G>A (p.Arg178Gln) single nucleotide variant Hemochromatosis type 4 [RCV001040815] Chr2:189565581 [GRCh38]
Chr2:190430307 [GRCh37]
Chr2:2q32.2
pathogenic|likely pathogenic
NM_014585.6(SLC40A1):c.-147A>G single nucleotide variant Hemochromatosis type 4 [RCV001140396] Chr2:189580607 [GRCh38]
Chr2:190445333 [GRCh37]
Chr2:2q32.2
uncertain significance
GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV001255693] Chr2:190345272..200212289 [GRCh37]
Chr2:2q32.2-33.1
pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3
pathogenic
GRCh37/hg19 2q32.1-33.1(chr2:188294864-197731939)x3 copy number gain not provided [RCV001258567] Chr2:188294864..197731939 [GRCh37]
Chr2:2q32.1-33.1
likely pathogenic
NM_014585.6(SLC40A1):c.43+68A>C single nucleotide variant not provided [RCV001539773] Chr2:189580350 [GRCh38]
Chr2:190445076 [GRCh37]
Chr2:2q32.2
benign
NM_014585.6(SLC40A1):c.72A>G (p.Ala24=) single nucleotide variant Hemochromatosis type 4 [RCV001422586] Chr2:189579852 [GRCh38]
Chr2:190444578 [GRCh37]
Chr2:2q32.2
likely benign
NM_014585.6(SLC40A1):c.44-2A>G single nucleotide variant Hemochromatosis type 4 [RCV001316420] Chr2:189579882 [GRCh38]
Chr2:190444608 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.6(SLC40A1):c.478G>T (p.Val160Phe) single nucleotide variant Hemochromatosis type 4 [RCV001365008] Chr2:189571751 [GRCh38]
Chr2:190436477 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.6(SLC40A1):c.1402G>A (p.Gly468Ser) single nucleotide variant Hemochromatosis type 4 [RCV001315138] Chr2:189563584 [GRCh38]
Chr2:190428310 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.6(SLC40A1):c.5C>G (p.Thr2Ser) single nucleotide variant Hemochromatosis type 4 [RCV001337456] Chr2:189580456 [GRCh38]
Chr2:190445182 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.6(SLC40A1):c.1402+4A>G single nucleotide variant Hemochromatosis type 4 [RCV001338778] Chr2:189563580 [GRCh38]
Chr2:190428306 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.6(SLC40A1):c.12G>A (p.Ala4=) single nucleotide variant Hemochromatosis type 4 [RCV001395602] Chr2:189580449 [GRCh38]
Chr2:190445175 [GRCh37]
Chr2:2q32.2
likely benign
NM_014585.6(SLC40A1):c.44-24G>C single nucleotide variant Hemochromatosis type 4 [RCV001513669]|not provided [RCV001538483] Chr2:189579904 [GRCh38]
Chr2:190444630 [GRCh37]
Chr2:2q32.2
benign
NM_014585.6(SLC40A1):c.1371G>A (p.Leu457=) single nucleotide variant Hemochromatosis type 4 [RCV001475869] Chr2:189563615 [GRCh38]
Chr2:190428341 [GRCh37]
Chr2:2q32.2
likely benign
NM_014585.6(SLC40A1):c.327C>A (p.Ile109=) single nucleotide variant Hemochromatosis type 4 [RCV001442201] Chr2:189572906 [GRCh38]
Chr2:190437632 [GRCh37]
Chr2:2q32.2
likely benign
NM_014585.6(SLC40A1):c.1131A>C (p.Gly377=) single nucleotide variant Hemochromatosis type 4 [RCV001474352] Chr2:189563855 [GRCh38]
Chr2:190428581 [GRCh37]
Chr2:2q32.2
likely benign
NM_014585.6(SLC40A1):c.1256C>T (p.Thr419Ile) single nucleotide variant Hemochromatosis type 4 [RCV001469176] Chr2:189563730 [GRCh38]
Chr2:190428456 [GRCh37]
Chr2:2q32.2
likely benign
NM_014585.6(SLC40A1):c.134C>A (p.Ala45Glu) single nucleotide variant Hemochromatosis type 4 [RCV001420117] Chr2:189575298 [GRCh38]
Chr2:190440024 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.6(SLC40A1):c.306A>G (p.Ser102=) single nucleotide variant Hemochromatosis type 4 [RCV001420118] Chr2:189572927 [GRCh38]
Chr2:190437653 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.6(SLC40A1):c.517A>G (p.Met173Val) single nucleotide variant Hemochromatosis type 4 [RCV001420119] Chr2:189565597 [GRCh38]
Chr2:190430323 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.6(SLC40A1):c.1035G>C (p.Leu345Phe) single nucleotide variant Hemochromatosis type 4 [RCV001420120] Chr2:189563951 [GRCh38]
Chr2:190428677 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.6(SLC40A1):c.1048G>A (p.Ala350Thr) single nucleotide variant Hemochromatosis type 4 [RCV001420121] Chr2:189563938 [GRCh38]
Chr2:190428664 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.6(SLC40A1):c.1049C>T (p.Ala350Val) single nucleotide variant Hemochromatosis type 4 [RCV001420122] Chr2:189563937 [GRCh38]
Chr2:190428663 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.6(SLC40A1):c.1151T>G (p.Leu384Trp) single nucleotide variant Hemochromatosis type 4 [RCV001420123] Chr2:189563835 [GRCh38]
Chr2:190428561 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_014585.6(SLC40A1):c.188T>C (p.Val63Ala) single nucleotide variant Hemochromatosis type 4 [RCV001420124] Chr2:189575244 [GRCh38]
Chr2:190439970 [GRCh37]
Chr2:2q32.2
likely pathogenic
NM_014585.6(SLC40A1):c.212C>T (p.Ser71Phe) single nucleotide variant Hemochromatosis type 4 [RCV001420125] Chr2:189575220 [GRCh38]
Chr2:190439946 [GRCh37]
Chr2:2q32.2
likely pathogenic
NM_014585.6(SLC40A1):c.442A>G (p.Thr148Ala) single nucleotide variant Hemochromatosis type 4 [RCV001420127] Chr2:189571787 [GRCh38]
Chr2:190436513 [GRCh37]
Chr2:2q32.2
likely pathogenic
NM_014585.6(SLC40A1):c.536G>C (p.Arg179Thr) single nucleotide variant Hemochromatosis type 4 [RCV001420128] Chr2:189565578 [GRCh38]
Chr2:190430304 [GRCh37]
Chr2:2q32.2
likely pathogenic
NM_014585.6(SLC40A1):c.554A>C (p.Asn185Thr) single nucleotide variant Hemochromatosis type 4 [RCV001420129] Chr2:189565560 [GRCh38]
Chr2:190430286 [GRCh37]
Chr2:2q32.2
likely pathogenic
NM_014585.6(SLC40A1):c.611G>T (p.Gly204Val) single nucleotide variant Hemochromatosis type 4 [RCV001420130] Chr2:189565503 [GRCh38]
Chr2:190430229 [GRCh37]
Chr2:2q32.2
likely pathogenic
NM_014585.6(SLC40A1):c.616G>C (p.Gly206Arg) single nucleotide variant Hemochromatosis type 4 [RCV001420131] Chr2:189565498 [GRCh38]
Chr2:190430224 [GRCh37]
Chr2:2q32.2
likely pathogenic
NM_014585.6(SLC40A1):c.679T>G (p.Tyr227Asp) single nucleotide variant Hemochromatosis type 4 [RCV001420132] Chr2:189565435 [GRCh38]
Chr2:190430161 [GRCh37]
Chr2:2q32.2
likely pathogenic
NM_014585.6(SLC40A1):c.689C>A (p.Thr230Asn) single nucleotide variant Hemochromatosis type 4 [RCV001420133] Chr2:189565425 [GRCh38]
Chr2:190430151 [GRCh37]
Chr2:2q32.2
likely pathogenic
NM_014585.6(SLC40A1):c.825G>A (p.Glu275=) single nucleotide variant Hemochromatosis type 4 [RCV001412093] Chr2:189564161 [GRCh38]
Chr2:190428887 [GRCh37]
Chr2:2q32.2
likely benign
NM_014585.6(SLC40A1):c.238G>A (p.Gly80Ser) single nucleotide variant Hemochromatosis type 4 [RCV001385870] Chr2:189575194 [GRCh38]
Chr2:190439920 [GRCh37]
Chr2:2q32.2
pathogenic|likely pathogenic
NM_014585.6(SLC40A1):c.698T>C (p.Leu233Pro) single nucleotide variant Hemochromatosis type 4 [RCV001420134] Chr2:189565416 [GRCh38]
Chr2:190430142 [GRCh37]
Chr2:2q32.2
likely pathogenic
NM_014585.6(SLC40A1):c.968G>A (p.Gly323Asp) single nucleotide variant Hemochromatosis type 4 [RCV001420135] Chr2:189564018 [GRCh38]
Chr2:190428744 [GRCh37]
Chr2:2q32.2
likely pathogenic
NM_014585.6(SLC40A1):c.1468G>A (p.Gly490Ser) single nucleotide variant Hemochromatosis type 4 [RCV001420136] Chr2:189562126 [GRCh38]
Chr2:190426852 [GRCh37]
Chr2:2q32.2
likely pathogenic
NM_014585.6(SLC40A1):c.1502A>G (p.Tyr501Cys) single nucleotide variant Hemochromatosis type 4 [RCV001420137] Chr2:189562092 [GRCh38]
Chr2:190426818 [GRCh37]
Chr2:2q32.2
likely pathogenic
NM_014585.6(SLC40A1):c.138G>A (p.Val46=) single nucleotide variant Hemochromatosis type 4 [RCV001443884] Chr2:189575294 [GRCh38]
Chr2:190440020 [GRCh37]
Chr2:2q32.2
likely benign
NM_014585.6(SLC40A1):c.396C>T (p.Cys132=) single nucleotide variant Hemochromatosis type 4 [RCV001443910] Chr2:189571833 [GRCh38]
Chr2:190436559 [GRCh37]
Chr2:2q32.2
likely benign
NM_014585.6(SLC40A1):c.515-9C>T single nucleotide variant Hemochromatosis type 4 [RCV001500457] Chr2:189565608 [GRCh38]
Chr2:190430334 [GRCh37]
Chr2:2q32.2
likely benign
NM_014585.6(SLC40A1):c.44-4G>T single nucleotide variant Hemochromatosis type 4 [RCV001399650] Chr2:189579884 [GRCh38]
Chr2:190444610 [GRCh37]
Chr2:2q32.2
likely benign
NM_014585.6(SLC40A1):c.877C>T (p.Arg293Cys) single nucleotide variant Hemochromatosis type 4 [RCV001436654] Chr2:189564109 [GRCh38]
Chr2:190428835 [GRCh37]
Chr2:2q32.2
likely benign
NM_014585.6(SLC40A1):c.140C>T (p.Ser47Phe) single nucleotide variant Hemochromatosis type 4 [RCV001420116] Chr2:189575292 [GRCh38]
Chr2:190440018 [GRCh37]
Chr2:2q32.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10909 AgrOrtholog
COSMIC SLC40A1 COSMIC
Ensembl Genes ENSG00000138449 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000261024 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000390005 UniProtKB/TrEMBL
  ENSP00000392730 UniProtKB/TrEMBL
  ENSP00000396134 UniProtKB/TrEMBL
  ENSP00000413549 UniProtKB/TrEMBL
Ensembl Transcript ENST00000261024 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000427241 UniProtKB/TrEMBL
  ENST00000427419 UniProtKB/TrEMBL
  ENST00000440626 UniProtKB/TrEMBL
  ENST00000455320 UniProtKB/TrEMBL
GTEx ENSG00000138449 GTEx
HGNC ID HGNC:10909 ENTREZGENE
Human Proteome Map SLC40A1 Human Proteome Map
InterPro Ferroportin-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MFS_trans_sf UniProtKB/Swiss-Prot
KEGG Report hsa:30061 UniProtKB/Swiss-Prot
NCBI Gene 30061 ENTREZGENE
OMIM 604653 OMIM
  606069 OMIM
PANTHER PTHR11660 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FPN1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35805 PharmGKB
Superfamily-SCOP SSF103473 UniProtKB/Swiss-Prot
UniProt A0A1B1FKG5_HUMAN UniProtKB/TrEMBL
  A0A1B1FKG8_HUMAN UniProtKB/TrEMBL
  A0A1B1FKH1_HUMAN UniProtKB/TrEMBL
  D7GLE3_HUMAN UniProtKB/TrEMBL
  E7EQF8_HUMAN UniProtKB/TrEMBL
  E7ES28_HUMAN UniProtKB/TrEMBL
  Q4PNE2_HUMAN UniProtKB/TrEMBL
  Q4PNE3_HUMAN UniProtKB/TrEMBL
  Q4PNE4_HUMAN UniProtKB/TrEMBL
  Q4PNE6_HUMAN UniProtKB/TrEMBL
  Q9NP59 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q6FI62 UniProtKB/Swiss-Prot
  Q7Z4F8 UniProtKB/Swiss-Prot
  Q8IVB2 UniProtKB/Swiss-Prot
  Q9NRL0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-08 SLC40A1  solute carrier family 40 member 1  SLC40A1  solute carrier family 40 (iron-regulated transporter), member 1  Symbol and/or name change 5135510 APPROVED