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Gene: MFSD5 (major facilitator superfamily domain containing 5) Homo sapiens

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Symbol:

MFSD5

Name:

major facilitator superfamily domain containing 5

RGD ID:

1605912

HGNC Page

HGNC:28156

Description:

Enables molybdate ion transmembrane transporter activity. Involved in molybdate ion transport. Located in membrane.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

hsMOT2; major facilitator superfamily domain-containing protein 5; MGC11308; molybdate transporter 2 homolog; molybdate-anion transporter; SLC61A1

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	53,251,197 - 53,254,406 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	53,251,251 - 53,254,406 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	53,645,370 - 53,648,190 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	51,932,147 - 51,934,455 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	12	53,294,460 - 53,297,280 (+)	NCBI		Celera
Cytogenetic Map	12	q13.13	NCBI
HuRef	12	50,687,071 - 50,689,891 (+)	NCBI		HuRef
CHM1_1	12	53,611,667 - 53,614,487 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	53,216,787 - 53,219,996 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17beta-estradiol (EXP)

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

6-propyl-2-thiouracil (ISO)

acrylamide (ISO)

amitrole (ISO)

atrazine (EXP)

benzene (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (ISO)

carbamazepine (EXP)

carbon nanotube (ISO)

chlorpyrifos (ISO)

cisplatin (EXP)

clofibrate (ISO)

copper(II) sulfate (EXP)

Dibutyl phosphate (EXP)

endosulfan (ISO)

fenthion (ISO)

finasteride (ISO)

flutamide (ISO)

folic acid (ISO)

hydralazine (EXP)

ivermectin (EXP)

leflunomide (EXP)

menadione (EXP)

methimazole (ISO)

methylmercury chloride (EXP)

paracetamol (EXP,ISO)

propiconazole (ISO)

silver atom (EXP)

silver(0) (EXP)

sulfadimethoxine (ISO)

thiram (EXP)

titanium dioxide (ISO)

tolcapone (ISO)

valproic acid (EXP)

vincristine (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

molybdate ion transport (IDA,IEA)

monoatomic ion transport (IEA)

Cellular Component

membrane (HDA,IEA)

plasma membrane (IEA)

Molecular Function

molybdate ion transmembrane transporter activity (IDA,IEA)

protein binding (IPI)

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

Additional References at PubMed

PMID:8125298	PMID:12477932	PMID:12975309	PMID:14702039	PMID:15231747	PMID:15489334	PMID:16303743	PMID:16344560	PMID:17207965	PMID:19946888	PMID:20351267	PMID:21464289
PMID:21516116	PMID:21873635	PMID:21988832	PMID:23864651	PMID:24623722	PMID:25416956	PMID:26186194	PMID:28514442	PMID:32296183	PMID:33845483	PMID:33961781	PMID:35696571
PMID:35748872	PMID:36724073	PMID:37937463

Genomics

Comparative Map Data

MFSD5
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	53,251,197 - 53,254,406 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	53,251,251 - 53,254,406 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	53,645,370 - 53,648,190 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	51,932,147 - 51,934,455 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	12	53,294,460 - 53,297,280 (+)	NCBI		Celera
Cytogenetic Map	12	q13.13	NCBI
HuRef	12	50,687,071 - 50,689,891 (+)	NCBI		HuRef
CHM1_1	12	53,611,667 - 53,614,487 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	53,216,787 - 53,219,996 (+)	NCBI		T2T-CHM13v2.0

Mfsd5
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	15	102,187,891 - 102,190,179 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	15	102,187,889 - 102,190,189 (+)	Ensembl		GRCm39 Ensembl
GRCm38	15	102,279,456 - 102,281,744 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	15	102,279,454 - 102,281,754 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	15	102,109,887 - 102,112,175 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	15	102,107,488 - 102,109,778 (+)	NCBI		MGSCv36	mm8
Celera	15	104,436,913 - 104,439,201 (+)	NCBI		Celera
Cytogenetic Map	15	F2	NCBI
cM Map	15	57.44	NCBI

Mfsd5
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	135,287,683 - 135,289,964 (+)	NCBI		GRCr8
mRatBN7.2	7	133,409,096 - 133,411,377 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	133,402,537 - 133,411,396 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	135,170,118 - 135,172,399 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	137,399,498 - 137,401,779 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	137,384,540 - 137,386,821 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	143,882,000 - 143,884,281 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	143,882,000 - 143,884,280 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	141,678,906 - 141,681,187 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	141,032,928 - 141,035,209 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	7	141,109,434 - 141,111,641 (+)	NCBI
Celera	7	129,842,507 - 129,844,808 (+)	NCBI		Celera
Cytogenetic Map	7	q36	NCBI

Mfsd5
(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_004955458	519,566 - 521,778 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955458	519,566 - 521,778 (+)	NCBI	ChiLan1.0	ChiLan1.0

MFSD5
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	10	40,931,577 - 40,935,260 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	12	40,928,342 - 40,932,028 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	12	35,499,848 - 35,502,163 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	12	36,280,077 - 36,282,391 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	12	36,280,077 - 36,283,227 (-)	Ensembl	panpan1.1		panPan2

MFSD5
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	27	1,941,446 - 1,943,787 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	27	1,941,691 - 1,943,043 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	27	44,305,511 - 44,307,839 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	27	1,945,938 - 1,948,266 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	27	1,945,944 - 1,948,289 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	27	1,964,198 - 1,966,526 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	27	1,949,122 - 1,951,437 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	27	44,706,197 - 44,708,525 (+)	NCBI		UU_Cfam_GSD_1.0

Mfsd5
(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_024404945	62,616,748 - 62,619,070 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936512	10,545,758 - 10,548,067 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936512	10,545,758 - 10,548,067 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

MFSD5
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	18,476,366 - 18,478,737 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	18,476,366 - 18,478,745 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	5	18,912,089 - 18,914,471 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

MFSD5
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	11	49,359,286 - 49,362,027 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	11	49,360,455 - 49,361,807 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666037	196,697,445 - 196,700,570 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Mfsd5
(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_004624904	1,296,292 - 1,298,379 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624904	1,296,224 - 1,298,419 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in MFSD5
37 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 12q13.13(chr12:53099658-53724525)x1	copy number loss	See cases [RCV000052811]	Chr12:53099658..53724525 [GRCh38] Chr12:53493442..54118309 [GRCh37] Chr12:51779709..52404576 [NCBI36] Chr12:12q13.13	pathogenic
GRCh38/hg38 12q13.13(chr12:53224024-54222450)x1	copy number loss	See cases [RCV000052812]	Chr12:53224024..54222450 [GRCh38] Chr12:53617808..54616234 [GRCh37] Chr12:51904075..52902501 [NCBI36] Chr12:12q13.13	pathogenic
NM_001170790.1(MFSD5):c.993G>A (p.Glu331=)	single nucleotide variant	Malignant melanoma [RCV000070062]	Chr12:53253507 [GRCh38] Chr12:53647291 [GRCh37] Chr12:51933558 [NCBI36] Chr12:12q13.13	not provided
NM_001170790.1(MFSD5):c.804C>T (p.Asp268=)	single nucleotide variant	Malignant melanoma [RCV000062541]	Chr12:53253318 [GRCh38] Chr12:53647102 [GRCh37] Chr12:51933369 [NCBI36] Chr12:12q13.13	not provided
NM_001170790.1(MFSD5):c.1158C>T (p.Ala386=)	single nucleotide variant	Malignant melanoma [RCV000062542]	Chr12:53253672 [GRCh38] Chr12:53647456 [GRCh37] Chr12:51933723 [NCBI36] Chr12:12q13.13	not provided
GRCh38/hg38 12q13.13(chr12:52851850-53558824)x3	copy number gain	See cases [RCV000138030]	Chr12:52851850..53558824 [GRCh38] Chr12:53245634..53952608 [GRCh37] Chr12:51531901..52238875 [NCBI36] Chr12:12q13.13	likely pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	copy number gain	See cases [RCV000139555]	Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	copy number gain	See cases [RCV000258805]	Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33	pathogenic\|likely pathogenic
GRCh37/hg19 12q13.13(chr12:53421635-53645669)x3	copy number gain	Breast ductal adenocarcinoma [RCV000207107]	Chr12:53421635..53645669 [GRCh37] Chr12:12q13.13	uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	copy number gain	See cases [RCV000510482]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	copy number gain	See cases [RCV000511643]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
NM_032889.5(MFSD5):c.826C>G (p.Pro276Ala)	single nucleotide variant	not specified [RCV004326338]	Chr12:53253661 [GRCh38] Chr12:53647445 [GRCh37] Chr12:12q13.13	uncertain significance
NC_000012.11:g.26370251_54361538inv	inversion	not specified [RCV000714265]	Chr12:26370251..54361538 [GRCh37] Chr12:12p12.1-q13.13	uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3	copy number gain	not provided [RCV000750246]	Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3	copy number gain	not provided [RCV000750253]	Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
NM_032889.5(MFSD5):c.605C>T (p.Ala202Val)	single nucleotide variant	not specified [RCV004308110]	Chr12:53253440 [GRCh38] Chr12:53647224 [GRCh37] Chr12:12q13.13	uncertain significance
GRCh37/hg19 12q13.13(chr12:53614278-53971802)x1	copy number loss	not provided [RCV001259613]	Chr12:53614278..53971802 [GRCh37] Chr12:12q13.13	likely pathogenic
GRCh37/hg19 12q13.13(chr12:53372321-53864490)x1	copy number loss	not provided [RCV001259614]	Chr12:53372321..53864490 [GRCh37] Chr12:12q13.13	uncertain significance
NM_032889.5(MFSD5):c.1285G>A (p.Val429Met)	single nucleotide variant	not specified [RCV004286249]	Chr12:53254120 [GRCh38] Chr12:53647904 [GRCh37] Chr12:12q13.13	uncertain significance
NM_032889.5(MFSD5):c.659G>A (p.Arg220Gln)	single nucleotide variant	not specified [RCV004203389]	Chr12:53253494 [GRCh38] Chr12:53647278 [GRCh37] Chr12:12q13.13	uncertain significance
NM_032889.5(MFSD5):c.195A>C (p.Lys65Asn)	single nucleotide variant	not specified [RCV004153735]	Chr12:53253030 [GRCh38] Chr12:53646814 [GRCh37] Chr12:12q13.13	uncertain significance
NM_032889.5(MFSD5):c.683G>A (p.Arg228Gln)	single nucleotide variant	not specified [RCV004220275]	Chr12:53253518 [GRCh38] Chr12:53647302 [GRCh37] Chr12:12q13.13	uncertain significance
NM_032889.5(MFSD5):c.1216C>T (p.Arg406Trp)	single nucleotide variant	not specified [RCV004108989]	Chr12:53254051 [GRCh38] Chr12:53647835 [GRCh37] Chr12:12q13.13	uncertain significance
NM_032889.5(MFSD5):c.1094G>T (p.Arg365Leu)	single nucleotide variant	not specified [RCV004110349]	Chr12:53253929 [GRCh38] Chr12:53647713 [GRCh37] Chr12:12q13.13	uncertain significance
NM_032889.5(MFSD5):c.898C>T (p.Arg300Cys)	single nucleotide variant	not specified [RCV004226568]	Chr12:53253733 [GRCh38] Chr12:53647517 [GRCh37] Chr12:12q13.13	uncertain significance
NM_032889.5(MFSD5):c.-2C>T	single nucleotide variant	not specified [RCV004190353]	Chr12:53252834 [GRCh38] Chr12:53646618 [GRCh37] Chr12:12q13.13	uncertain significance
NM_032889.5(MFSD5):c.721C>T (p.Arg241Cys)	single nucleotide variant	not specified [RCV004241622]	Chr12:53253556 [GRCh38] Chr12:53647340 [GRCh37] Chr12:12q13.13	uncertain significance
NM_032889.5(MFSD5):c.406C>T (p.Leu136Phe)	single nucleotide variant	not specified [RCV004170978]	Chr12:53253241 [GRCh38] Chr12:53647025 [GRCh37] Chr12:12q13.13	uncertain significance
NM_032889.5(MFSD5):c.743G>A (p.Arg248His)	single nucleotide variant	not specified [RCV004177436]	Chr12:53253578 [GRCh38] Chr12:53647362 [GRCh37] Chr12:12q13.13	uncertain significance
NM_001170790.2(MFSD5):c.247G>A (p.Ala83Thr)	single nucleotide variant	not specified [RCV004101227]	Chr12:53251979 [GRCh38] Chr12:53645763 [GRCh37] Chr12:12q13.13	uncertain significance
NM_032889.5(MFSD5):c.380A>G (p.Tyr127Cys)	single nucleotide variant	not specified [RCV004198046]	Chr12:53253215 [GRCh38] Chr12:53646999 [GRCh37] Chr12:12q13.13	uncertain significance
NM_032889.5(MFSD5):c.1145G>A (p.Arg382Gln)	single nucleotide variant	not specified [RCV004153294]	Chr12:53253980 [GRCh38] Chr12:53647764 [GRCh37] Chr12:12q13.13	uncertain significance
NM_032889.5(MFSD5):c.1250T>G (p.Val417Gly)	single nucleotide variant	not specified [RCV004087690]	Chr12:53254085 [GRCh38] Chr12:53647869 [GRCh37] Chr12:12q13.13	uncertain significance
NM_032889.5(MFSD5):c.1066T>G (p.Leu356Val)	single nucleotide variant	not specified [RCV004251515]	Chr12:53253901 [GRCh38] Chr12:53647685 [GRCh37] Chr12:12q13.13	uncertain significance
NM_032889.5(MFSD5):c.832G>A (p.Gly278Arg)	single nucleotide variant	not specified [RCV004261123]	Chr12:53253667 [GRCh38] Chr12:53647451 [GRCh37] Chr12:12q13.13	uncertain significance
NM_032889.5(MFSD5):c.518G>C (p.Arg173Pro)	single nucleotide variant	not specified [RCV004354476]	Chr12:53253353 [GRCh38] Chr12:53647137 [GRCh37] Chr12:12q13.13	uncertain significance
NM_032889.5(MFSD5):c.655C>G (p.Leu219Val)	single nucleotide variant	not specified [RCV004350377]	Chr12:53253490 [GRCh38] Chr12:53647274 [GRCh37] Chr12:12q13.13	uncertain significance
NM_032889.5(MFSD5):c.479A>G (p.His160Arg)	single nucleotide variant	not specified [RCV004351890]	Chr12:53253314 [GRCh38] Chr12:53647098 [GRCh37] Chr12:12q13.13	uncertain significance
NM_032889.5(MFSD5):c.1309C>T (p.Arg437Trp)	single nucleotide variant	not specified [RCV004341519]	Chr12:53254144 [GRCh38] Chr12:53647928 [GRCh37] Chr12:12q13.13	uncertain significance
NM_032889.5(MFSD5):c.718C>G (p.Leu240Val)	single nucleotide variant	not specified [RCV004350376]	Chr12:53253553 [GRCh38] Chr12:53647337 [GRCh37] Chr12:12q13.13	uncertain significance
GRCh37/hg19 12q13.13(chr12:53583828-53922629)x3	copy number gain	not provided [RCV003484869]	Chr12:53583828..53922629 [GRCh37] Chr12:12q13.13	uncertain significance
GRCh37/hg19 12q13.13(chr12:53502510-54256094)x3	copy number gain	not specified [RCV003986989]	Chr12:53502510..54256094 [GRCh37] Chr12:12q13.13	uncertain significance
NM_032889.5(MFSD5):c.-12C>T	single nucleotide variant	not specified [RCV004417126]	Chr12:53252824 [GRCh38] Chr12:53646608 [GRCh37] Chr12:12q13.13	uncertain significance
NM_032889.5(MFSD5):c.742C>T (p.Arg248Cys)	single nucleotide variant	not specified [RCV004417121]	Chr12:53253577 [GRCh38] Chr12:53647361 [GRCh37] Chr12:12q13.13	uncertain significance
NM_032889.5(MFSD5):c.1002C>A (p.Ser334Arg)	single nucleotide variant	not specified [RCV004417123]	Chr12:53253837 [GRCh38] Chr12:53647621 [GRCh37] Chr12:12q13.13	uncertain significance
NM_032889.5(MFSD5):c.635C>T (p.Ala212Val)	single nucleotide variant	not specified [RCV004417127]	Chr12:53253470 [GRCh38] Chr12:53647254 [GRCh37] Chr12:12q13.13	uncertain significance
NM_032889.5(MFSD5):c.792C>G (p.Phe264Leu)	single nucleotide variant	not specified [RCV004417122]	Chr12:53253627 [GRCh38] Chr12:53647411 [GRCh37] Chr12:12q13.13	uncertain significance
NM_032889.5(MFSD5):c.1019C>T (p.Pro340Leu)	single nucleotide variant	not specified [RCV004417124]	Chr12:53253854 [GRCh38] Chr12:53647638 [GRCh37] Chr12:12q13.13	uncertain significance
NM_032889.5(MFSD5):c.689G>A (p.Arg230His)	single nucleotide variant	not specified [RCV004645515]	Chr12:53253524 [GRCh38] Chr12:53647308 [GRCh37] Chr12:12q13.13	uncertain significance
NM_032889.5(MFSD5):c.1064G>A (p.Gly355Glu)	single nucleotide variant	not specified [RCV004645516]	Chr12:53253899 [GRCh38] Chr12:53647683 [GRCh37] Chr12:12q13.13	uncertain significance
NM_032889.5(MFSD5):c.670G>A (p.Glu224Lys)	single nucleotide variant	not specified [RCV004645517]	Chr12:53253505 [GRCh38] Chr12:53647289 [GRCh37] Chr12:12q13.13	uncertain significance
NM_032889.5(MFSD5):c.964G>A (p.Val322Ile)	single nucleotide variant	not specified [RCV004645514]	Chr12:53253799 [GRCh38] Chr12:53647583 [GRCh37] Chr12:12q13.13	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1146
Count of miRNA genes:	638
Interacting mature miRNAs:	715
Transcripts:	ENST00000329548, ENST00000534842, ENST00000546655, ENST00000551660, ENST00000552097
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.

Markers in Region

RH28518

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	53,646,832 - 53,646,940	UniSTS	GRCh37
Build 36	12	51,933,099 - 51,933,207	RGD	NCBI36
Celera	12	53,295,922 - 53,296,030	RGD
Cytogenetic Map	12	q13.13	UniSTS
HuRef	12	50,688,533 - 50,688,641	UniSTS

Expression

RNA-SEQ Expression

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

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4974	1726	2351	5	624	1951	465	2270	7305	6471	53	3734	1	852	1744	1617	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001170790	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_032889	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005269197	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005269198	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054373645	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054373646	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC021072	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK074684	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK097576	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK225998	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AX118981	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY358604	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC007703	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC067795	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX640649	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471054	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CQ782634	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA428788	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA565785	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA695979	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000329548 ⟹ ENSP00000332624

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	53,252,095 - 53,254,406 (+)	Ensembl

Ensembl Acc Id:

ENST00000534842 ⟹ ENSP00000442688

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	53,251,586 - 53,254,405 (+)	Ensembl

Ensembl Acc Id:

ENST00000546655

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	53,251,251 - 53,251,897 (+)	Ensembl

Ensembl Acc Id:

ENST00000551660 ⟹ ENSP00000449354

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	53,251,653 - 53,253,752 (+)	Ensembl

Ensembl Acc Id:

ENST00000552097

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	53,252,449 - 53,253,209 (+)	Ensembl

RefSeq Acc Id:

NM_001170790 ⟹ NP_001164261

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	53,251,586 - 53,254,406 (+)	NCBI
GRCh37	12	53,645,035 - 53,648,190 (+)	NCBI
Celera	12	53,294,460 - 53,297,280 (+)	RGD
HuRef	12	50,687,071 - 50,689,891 (+)	RGD
CHM1_1	12	53,611,667 - 53,614,487 (+)	NCBI
T2T-CHM13v2.0	12	53,217,176 - 53,219,996 (+)	NCBI

Sequence:

show sequence

ACTGGGAAGTTATGCGGCTTGCCCAAGGCCACACAGCTGGTAAGTGACAGGGGCAGGACTGCGC
CTTAGTCTGTCTGCAGCCCGACTCCAAGTTCTTTACACCACACCGCCTCCCTCAGGTGTCTGGA
CCATACTGGCTTCTCTTGCATGGAGGTCACTGCAGTGGGAGAGGAGGCAAACCAAGGAGACCTT
CTCGGCTTCGGGCAGCGGTGCTGTTCCTTAGGAAGCTCCAACCCTTGGCTCTACCGGACTGCGG
GCATCTTTCCCGAGCACTGCACGGAAGAAAAGAAAATTGGCACTTATTTCAGGGTGGCCCCTCA
GGCATCCAAGAGCCAGAGGAGCAGGTGTCACGGGATGGCAGCGAGCGAGGCCAGGCCAGGAGAA
GCAACCGCAGCCTCCTATGGTCGCCCCTTCCCGACCCACCCCAGGCGTCAGGAGTTCCGCGCCC
GGGTCGTCCGGGGGCCCACCATGCTGGTGACTGCCTACCTTGCTTTTGTAGGCCTCCTGGCCTC
CTGCCTGGGGCTGGAACTGTCAAGATGCCGGGCTAAACCCCCTGGAAGGGCCTGCAGCAATCCC
TCCTTCCTTCGGTTTCAACTGGACTTCTATCAGGTCTACTTCCTGGCCCTGGCAGCTGATTGGC
TTCAGGCCCCCTACCTCTATAAACTCTACCAGCATTACTACTTCCTGGAAGGTCAAATTGCCAT
CCTCTATGTCTGTGGCCTTGCCTCTACAGTCCTCTTTGGCCTAGTGGCCTCCTCCCTTGTGGAT
TGGCTGGGTCGCAAGAATTCTTGTGTCCTCTTCTCCCTGACTTACTCACTATGCTGCTTAACCA
AACTCTCTCAAGACTACTTTGTGCTGCTAGTGGGGCGAGCACTTGGTGGGCTGTCCACAGCCCT
GCTCTTCTCAGCCTTCGAGGCCTGGTATATCCATGAGCACGTGGAACGGCATGACTTCCCTGCT
GAGTGGATCCCAGCTACCTTTGCTCGAGCTGCCTTCTGGAACCATGTGCTGGCTGTAGTGGCAG
GTGTGGCAGCTGAGGCTGTAGCCAGCTGGATAGGGCTGGGGCCTGTAGCGCCCTTTGTGGCTGC
CATCCCTCTCCTGGCTCTGGCAGGGGCCTTGGCCCTTCGAAACTGGGGGGAGAACTATGACCGG
CAGCGTGCCTTCTCAAGGACCTGTGCTGGAGGCCTGCGCTGCCTCCTGTCGGACCGCCGCGTGC
TGCTGTTGGGCACCATACAAGCTCTATTTGAGAGTGTCATCTTCATCTTTGTCTTCCTCTGGAC
ACCTGTGCTGGACCCACACGGGGCCCCTCTGGGCATTATCTTCTCCAGCTTCATGGCAGCCAGC
CTGCTTGGCTCTTCCCTGTACCGTATCGCCACCTCCAAGAGGTACCACCTTCAGCCCATGCACC
TGCTGTCCCTTGCTGTGCTCATCGTCGTCTTCTCTCTCTTCATGTTGACTTTCTCTACCAGCCC
AGGCCAGGAGAGTCCGGTGGAGTCCTTCATAGCCTTTCTACTTATTGAGTTGGCTTGTGGATTA
TACTTTCCCAGCATGAGCTTCCTACGGAGAAAGGTGATCCCTGAGACAGAGCAGGCTGGTGTAC
TCAACTGGTTCCGGGTACCTCTGCACTCACTGGCTTGCCTAGGGCTCCTTGTCCTCCATGACAG
TGATCGAAAAACAGGCACTCGGAATATGTTCAGCATTTGCTCTGCTGTCATGGTGATGGCTCTG
CTGGCAGTGGTGGGACTCTTCACCGTGGTAAGGCATGATGCTGAGCTGCGGGTACCTTCACCTA
CTGAGGAGCCCTATGCCCCTGAGCTGTAACCCCACTCCAGGACAAGATAGCTGGGACAGACTCT
TGAATTCCAGCTATCCGGGATTGTACAGATCTCTCTGTGACTGACTTTGTGACTGTCCTGTGGT
TTCTCCTGCCATTGCTTTGTGTTTGGGAGGACATGATGGGGGTGATGGACTGGAAAGAAGGTGC
CAAAAGTTCCCTCTGTGTTACTCCCATTTAGAAAATAAACACTTTTAAATGATCA

hide sequence

RefSeq Acc Id:

NM_032889 ⟹ NP_116278

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	53,252,095 - 53,254,406 (+)	NCBI
GRCh37	12	53,645,035 - 53,648,190 (+)	NCBI
Build 36	12	51,932,147 - 51,934,455 (+)	NCBI Archive
Celera	12	53,294,460 - 53,297,280 (+)	RGD
HuRef	12	50,687,071 - 50,689,891 (+)	RGD
CHM1_1	12	53,612,173 - 53,614,487 (+)	NCBI
T2T-CHM13v2.0	12	53,217,685 - 53,219,996 (+)	NCBI

Sequence:

show sequence

ACGTGATGAAGCCATCATGGCGGCGGCCAGAGGCCTGCCCGGCTCCCGGAAGCAGGCTGTGAGG
GGCGGGAGCGCTGCTGGAACCCGAGCCGGAGCCGGAGCCACAGCGGGGAGGGTGGCCTGGCGGC
CTGGAGCCGGACGTGTCCGGGGCGTCCCCGCAGACCGGGGCAGCAGGTCGTCCGGGGGCCCACC
ATGCTGGTGACTGCCTACCTTGCTTTTGTAGGCCTCCTGGCCTCCTGCCTGGGGCTGGAACTGT
CAAGATGCCGGGCTAAACCCCCTGGAAGGGCCTGCAGCAATCCCTCCTTCCTTCGGTTTCAACT
GGACTTCTATCAGGTCTACTTCCTGGCCCTGGCAGCTGATTGGCTTCAGGCCCCCTACCTCTAT
AAACTCTACCAGCATTACTACTTCCTGGAAGGTCAAATTGCCATCCTCTATGTCTGTGGCCTTG
CCTCTACAGTCCTCTTTGGCCTAGTGGCCTCCTCCCTTGTGGATTGGCTGGGTCGCAAGAATTC
TTGTGTCCTCTTCTCCCTGACTTACTCACTATGCTGCTTAACCAAACTCTCTCAAGACTACTTT
GTGCTGCTAGTGGGGCGAGCACTTGGTGGGCTGTCCACAGCCCTGCTCTTCTCAGCCTTCGAGG
CCTGGTATATCCATGAGCACGTGGAACGGCATGACTTCCCTGCTGAGTGGATCCCAGCTACCTT
TGCTCGAGCTGCCTTCTGGAACCATGTGCTGGCTGTAGTGGCAGGTGTGGCAGCTGAGGCTGTA
GCCAGCTGGATAGGGCTGGGGCCTGTAGCGCCCTTTGTGGCTGCCATCCCTCTCCTGGCTCTGG
CAGGGGCCTTGGCCCTTCGAAACTGGGGGGAGAACTATGACCGGCAGCGTGCCTTCTCAAGGAC
CTGTGCTGGAGGCCTGCGCTGCCTCCTGTCGGACCGCCGCGTGCTGCTGTTGGGCACCATACAA
GCTCTATTTGAGAGTGTCATCTTCATCTTTGTCTTCCTCTGGACACCTGTGCTGGACCCACACG
GGGCCCCTCTGGGCATTATCTTCTCCAGCTTCATGGCAGCCAGCCTGCTTGGCTCTTCCCTGTA
CCGTATCGCCACCTCCAAGAGGTACCACCTTCAGCCCATGCACCTGCTGTCCCTTGCTGTGCTC
ATCGTCGTCTTCTCTCTCTTCATGTTGACTTTCTCTACCAGCCCAGGCCAGGAGAGTCCGGTGG
AGTCCTTCATAGCCTTTCTACTTATTGAGTTGGCTTGTGGATTATACTTTCCCAGCATGAGCTT
CCTACGGAGAAAGGTGATCCCTGAGACAGAGCAGGCTGGTGTACTCAACTGGTTCCGGGTACCT
CTGCACTCACTGGCTTGCCTAGGGCTCCTTGTCCTCCATGACAGTGATCGAAAAACAGGCACTC
GGAATATGTTCAGCATTTGCTCTGCTGTCATGGTGATGGCTCTGCTGGCAGTGGTGGGACTCTT
CACCGTGGTAAGGCATGATGCTGAGCTGCGGGTACCTTCACCTACTGAGGAGCCCTATGCCCCT
GAGCTGTAACCCCACTCCAGGACAAGATAGCTGGGACAGACTCTTGAATTCCAGCTATCCGGGA
TTGTACAGATCTCTCTGTGACTGACTTTGTGACTGTCCTGTGGTTTCTCCTGCCATTGCTTTGT
GTTTGGGAGGACATGATGGGGGTGATGGACTGGAAAGAAGGTGCCAAAAGTTCCCTCTGTGTTA
CTCCCATTTAGAAAATAAACACTTTTAAATGATCA

hide sequence

RefSeq Acc Id:

XM_005269197 ⟹ XP_005269254

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	53,251,197 - 53,254,406 (+)	NCBI

Sequence:

show sequence

AAAAGCCCTGGTGGTAGCCAACATAGATGGGAGGGAGAGGAGCAGGGGATGAAGTCAGAGGAGT
GGCAGAGGGTCAGAGGACAGAGGGTCTTGTAGGCCATTATAAATACTTCGGCTTTTACCCTTAG
TGAGATGGGAAGTCATTGGAGGCTCTTGAGGAGATGATACGGAAGCTGTAGAGAGGTTAAATAG
TTTTTCCAAGGTAAAACAGCTTGTAAGTGGCAGAAGGTAGGGAATTAAGCTCCAAGGCTGAAGT
TCTTAACCCCATGCTGCCACTGAACTTTAGCCTTCTTTATTTGGGCATTGCTATCCTGTGACTT
CAAAGAAACTGGGACACTGGGAAGTTATGCGGCTTGCCCAAGGCCACACAGCTGGTGTCTGGAC
CATACTGGCTTCTCTTGCATGGAGGTCACTGCAGTGGGAGAGGAGGCAAACCAAGGAGACCTTC
TCGGCTTCGGGCAGCGGTGCTGTTCCTTAGGAAGCTCCAACCCTTGGCTCTACCGGACTGCGGG
CATCTTTCCCGAGCACTGCACGGAAGAAAAGAAAATTGGCACTTATTTCAGGGTGGCCCCTCAG
GCATCCAAGAGCCAGAGGAGCAGGTGTCACGGGATGGCAGCGAGCGAGGCCAGGCCAGGAGAAG
CAACCGCAGCCTCCTATGGTCGCCCCTTCCCGACCCACCCCAGGCGTCAGGAGTTCCGCGCCCG
GGTCGTCCGGGGGCCCACCATGCTGGTGACTGCCTACCTTGCTTTTGTAGGCCTCCTGGCCTCC
TGCCTGGGGCTGGAACTGTCAAGATGCCGGGCTAAACCCCCTGGAAGGGCCTGCAGCAATCCCT
CCTTCCTTCGGTTTCAACTGGACTTCTATCAGGTCTACTTCCTGGCCCTGGCAGCTGATTGGCT
TCAGGCCCCCTACCTCTATAAACTCTACCAGCATTACTACTTCCTGGAAGGTCAAATTGCCATC
CTCTATGTCTGTGGCCTTGCCTCTACAGTCCTCTTTGGCCTAGTGGCCTCCTCCCTTGTGGATT
GGCTGGGTCGCAAGAATTCTTGTGTCCTCTTCTCCCTGACTTACTCACTATGCTGCTTAACCAA
ACTCTCTCAAGACTACTTTGTGCTGCTAGTGGGGCGAGCACTTGGTGGGCTGTCCACAGCCCTG
CTCTTCTCAGCCTTCGAGGCCTGGTATATCCATGAGCACGTGGAACGGCATGACTTCCCTGCTG
AGTGGATCCCAGCTACCTTTGCTCGAGCTGCCTTCTGGAACCATGTGCTGGCTGTAGTGGCAGG
TGTGGCAGCTGAGGCTGTAGCCAGCTGGATAGGGCTGGGGCCTGTAGCGCCCTTTGTGGCTGCC
ATCCCTCTCCTGGCTCTGGCAGGGGCCTTGGCCCTTCGAAACTGGGGGGAGAACTATGACCGGC
AGCGTGCCTTCTCAAGGACCTGTGCTGGAGGCCTGCGCTGCCTCCTGTCGGACCGCCGCGTGCT
GCTGTTGGGCACCATACAAGCTCTATTTGAGAGTGTCATCTTCATCTTTGTCTTCCTCTGGACA
CCTGTGCTGGACCCACACGGGGCCCCTCTGGGCATTATCTTCTCCAGCTTCATGGCAGCCAGCC
TGCTTGGCTCTTCCCTGTACCGTATCGCCACCTCCAAGAGGTACCACCTTCAGCCCATGCACCT
GCTGTCCCTTGCTGTGCTCATCGTCGTCTTCTCTCTCTTCATGTTGACTTTCTCTACCAGCCCA
GGCCAGGAGAGTCCGGTGGAGTCCTTCATAGCCTTTCTACTTATTGAGTTGGCTTGTGGATTAT
ACTTTCCCAGCATGAGCTTCCTACGGAGAAAGGTGATCCCTGAGACAGAGCAGGCTGGTGTACT
CAACTGGTTCCGGGTACCTCTGCACTCACTGGCTTGCCTAGGGCTCCTTGTCCTCCATGACAGT
GATCGAAAAACAGGCACTCGGAATATGTTCAGCATTTGCTCTGCTGTCATGGTGATGGCTCTGC
TGGCAGTGGTGGGACTCTTCACCGTGGTAAGGCATGATGCTGAGCTGCGGGTACCTTCACCTAC
TGAGGAGCCCTATGCCCCTGAGCTGTAACCCCACTCCAGGACAAGATAGCTGGGACAGACTCTT
GAATTCCAGCTATCCGGGATTGTACAGATCTCTCTGTGACTGACTTTGTGACTGTCCTGTGGTT
TCTCCTGCCATTGCTTTGTGTTTGGGAGGACATGATGGGGGTGATGGACTGGAAAGAAGGTGCC
AAAAGTTCCCTCTGTGTTACTCCCATTTAGAAAATAAACACTTTTAAATGATCA

hide sequence

RefSeq Acc Id:

XM_005269198 ⟹ XP_005269255

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	53,252,388 - 53,254,406 (+)	NCBI

Sequence:

show sequence

AGTGGGCCTCTGAGATGCACACGCATGACCCTGAAGCAACTCGAGAGGCCTGCGCGGGTGGGAG
GGATGCCCGGGACAGAGGATGAGACACTGAGGGCAAAAAGAGGCTCCGCAGCGAGGACGGGAGG
TCGTCCGGGGGCCCACCATGCTGGTGACTGCCTACCTTGCTTTTGTAGGCCTCCTGGCCTCCTG
CCTGGGGCTGGAACTGTCAAGATGCCGGGCTAAACCCCCTGGAAGGGCCTGCAGCAATCCCTCC
TTCCTTCGGTTTCAACTGGACTTCTATCAGGTCTACTTCCTGGCCCTGGCAGCTGATTGGCTTC
AGGCCCCCTACCTCTATAAACTCTACCAGCATTACTACTTCCTGGAAGGTCAAATTGCCATCCT
CTATGTCTGTGGCCTTGCCTCTACAGTCCTCTTTGGCCTAGTGGCCTCCTCCCTTGTGGATTGG
CTGGGTCGCAAGAATTCTTGTGTCCTCTTCTCCCTGACTTACTCACTATGCTGCTTAACCAAAC
TCTCTCAAGACTACTTTGTGCTGCTAGTGGGGCGAGCACTTGGTGGGCTGTCCACAGCCCTGCT
CTTCTCAGCCTTCGAGGCCTGGTATATCCATGAGCACGTGGAACGGCATGACTTCCCTGCTGAG
TGGATCCCAGCTACCTTTGCTCGAGCTGCCTTCTGGAACCATGTGCTGGCTGTAGTGGCAGGTG
TGGCAGCTGAGGCTGTAGCCAGCTGGATAGGGCTGGGGCCTGTAGCGCCCTTTGTGGCTGCCAT
CCCTCTCCTGGCTCTGGCAGGGGCCTTGGCCCTTCGAAACTGGGGGGAGAACTATGACCGGCAG
CGTGCCTTCTCAAGGACCTGTGCTGGAGGCCTGCGCTGCCTCCTGTCGGACCGCCGCGTGCTGC
TGTTGGGCACCATACAAGCTCTATTTGAGAGTGTCATCTTCATCTTTGTCTTCCTCTGGACACC
TGTGCTGGACCCACACGGGGCCCCTCTGGGCATTATCTTCTCCAGCTTCATGGCAGCCAGCCTG
CTTGGCTCTTCCCTGTACCGTATCGCCACCTCCAAGAGGTACCACCTTCAGCCCATGCACCTGC
TGTCCCTTGCTGTGCTCATCGTCGTCTTCTCTCTCTTCATGTTGACTTTCTCTACCAGCCCAGG
CCAGGAGAGTCCGGTGGAGTCCTTCATAGCCTTTCTACTTATTGAGTTGGCTTGTGGATTATAC
TTTCCCAGCATGAGCTTCCTACGGAGAAAGGTGATCCCTGAGACAGAGCAGGCTGGTGTACTCA
ACTGGTTCCGGGTACCTCTGCACTCACTGGCTTGCCTAGGGCTCCTTGTCCTCCATGACAGTGA
TCGAAAAACAGGCACTCGGAATATGTTCAGCATTTGCTCTGCTGTCATGGTGATGGCTCTGCTG
GCAGTGGTGGGACTCTTCACCGTGGTAAGGCATGATGCTGAGCTGCGGGTACCTTCACCTACTG
AGGAGCCCTATGCCCCTGAGCTGTAACCCCACTCCAGGACAAGATAGCTGGGACAGACTCTTGA
ATTCCAGCTATCCGGGATTGTACAGATCTCTCTGTGACTGACTTTGTGACTGTCCTGTGGTTTC
TCCTGCCATTGCTTTGTGTTTGGGAGGACATGATGGGGGTGATGGACTGGAAAGAAGGTGCCAA
AAGTTCCCTCTGTGTTACTCCCATTTAGAAAATAAACACTTTTAAATGATCA

hide sequence

RefSeq Acc Id:

XM_054373645 ⟹ XP_054229620

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	53,216,787 - 53,219,996 (+)	NCBI

RefSeq Acc Id:

XM_054373646 ⟹ XP_054229621

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	53,217,978 - 53,219,996 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001164261	(Get FASTA)	NCBI Sequence Viewer
	NP_116278	(Get FASTA)	NCBI Sequence Viewer
	XP_005269254	(Get FASTA)	NCBI Sequence Viewer
	XP_005269255	(Get FASTA)	NCBI Sequence Viewer
	XP_054229620	(Get FASTA)	NCBI Sequence Viewer
	XP_054229621	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH07703	(Get FASTA)	NCBI Sequence Viewer
	AAH67795	(Get FASTA)	NCBI Sequence Viewer
	AAQ88967	(Get FASTA)	NCBI Sequence Viewer
	BAC05108	(Get FASTA)	NCBI Sequence Viewer
	BAC11137	(Get FASTA)	NCBI Sequence Viewer
	CAC38564	(Get FASTA)	NCBI Sequence Viewer
	CAE45795	(Get FASTA)	NCBI Sequence Viewer
	CAF85892	(Get FASTA)	NCBI Sequence Viewer
	EAW96679	(Get FASTA)	NCBI Sequence Viewer
	EAW96680	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000332624
	ENSP00000332624.5
	ENSP00000442688
	ENSP00000442688.1
	ENSP00000449354.2
GenBank Protein	Q6N075	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_116278 ⟸ NM_032889
- Peptide Label:	isoform 2
- UniProtKB:	Q8NCK0 (UniProtKB/Swiss-Prot), Q8N7W8 (UniProtKB/Swiss-Prot), Q6NW04 (UniProtKB/Swiss-Prot), G3V1N7 (UniProtKB/Swiss-Prot), Q96IA5 (UniProtKB/Swiss-Prot), Q6N075 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLVTAYLAFVGLLASCLGLELSRCRAKPPGRACSNPSFLRFQLDFYQVYFLALAADWLQAPYLY KLYQHYYFLEGQIAILYVCGLASTVLFGLVASSLVDWLGRKNSCVLFSLTYSLCCLTKLSQDYF VLLVGRALGGLSTALLFSAFEAWYIHEHVERHDFPAEWIPATFARAAFWNHVLAVVAGVAAEAV ASWIGLGPVAPFVAAIPLLALAGALALRNWGENYDRQRAFSRTCAGGLRCLLSDRRVLLLGTIQ ALFESVIFIFVFLWTPVLDPHGAPLGIIFSSFMAASLLGSSLYRIATSKRYHLQPMHLLSLAVL IVVFSLFMLTFSTSPGQESPVESFIAFLLIELACGLYFPSMSFLRRKVIPETEQAGVLNWFRVP LHSLACLGLLVLHDSDRKTGTRNMFSICSAVMVMALLAVVGLFTVVRHDAELRVPSPTEEPYAP EL hide sequence

RefSeq Acc Id:	NP_001164261 ⟸ NM_001170790
- Peptide Label:	isoform 1
- UniProtKB:	Q6N075 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MEVTAVGEEANQGDLLGFGQRCCSLGSSNPWLYRTAGIFPEHCTEEKKIGTYFRVAPQASKSQR SRCHGMAASEARPGEATAASYGRPFPTHPRRQEFRARVVRGPTMLVTAYLAFVGLLASCLGLEL SRCRAKPPGRACSNPSFLRFQLDFYQVYFLALAADWLQAPYLYKLYQHYYFLEGQIAILYVCGL ASTVLFGLVASSLVDWLGRKNSCVLFSLTYSLCCLTKLSQDYFVLLVGRALGGLSTALLFSAFE AWYIHEHVERHDFPAEWIPATFARAAFWNHVLAVVAGVAAEAVASWIGLGPVAPFVAAIPLLAL AGALALRNWGENYDRQRAFSRTCAGGLRCLLSDRRVLLLGTIQALFESVIFIFVFLWTPVLDPH GAPLGIIFSSFMAASLLGSSLYRIATSKRYHLQPMHLLSLAVLIVVFSLFMLTFSTSPGQESPV ESFIAFLLIELACGLYFPSMSFLRRKVIPETEQAGVLNWFRVPLHSLACLGLLVLHDSDRKTGT RNMFSICSAVMVMALLAVVGLFTVVRHDAELRVPSPTEEPYAPEL hide sequence

RefSeq Acc Id:	XP_005269254 ⟸ XM_005269197
- Peptide Label:	isoform X1
- UniProtKB:	Q6N075 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MEVTAVGEEANQGDLLGFGQRCCSLGSSNPWLYRTAGIFPEHCTEEKKIGTYFRVAPQASKSQR SRCHGMAASEARPGEATAASYGRPFPTHPRRQEFRARVVRGPTMLVTAYLAFVGLLASCLGLEL SRCRAKPPGRACSNPSFLRFQLDFYQVYFLALAADWLQAPYLYKLYQHYYFLEGQIAILYVCGL ASTVLFGLVASSLVDWLGRKNSCVLFSLTYSLCCLTKLSQDYFVLLVGRALGGLSTALLFSAFE AWYIHEHVERHDFPAEWIPATFARAAFWNHVLAVVAGVAAEAVASWIGLGPVAPFVAAIPLLAL AGALALRNWGENYDRQRAFSRTCAGGLRCLLSDRRVLLLGTIQALFESVIFIFVFLWTPVLDPH GAPLGIIFSSFMAASLLGSSLYRIATSKRYHLQPMHLLSLAVLIVVFSLFMLTFSTSPGQESPV ESFIAFLLIELACGLYFPSMSFLRRKVIPETEQAGVLNWFRVPLHSLACLGLLVLHDSDRKTGT RNMFSICSAVMVMALLAVVGLFTVVRHDAELRVPSPTEEPYAPEL hide sequence

RefSeq Acc Id:	XP_005269255 ⟸ XM_005269198
- Peptide Label:	isoform X2
- UniProtKB:	Q8NCK0 (UniProtKB/Swiss-Prot), Q8N7W8 (UniProtKB/Swiss-Prot), Q6NW04 (UniProtKB/Swiss-Prot), G3V1N7 (UniProtKB/Swiss-Prot), Q96IA5 (UniProtKB/Swiss-Prot), Q6N075 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLVTAYLAFVGLLASCLGLELSRCRAKPPGRACSNPSFLRFQLDFYQVYFLALAADWLQAPYLY KLYQHYYFLEGQIAILYVCGLASTVLFGLVASSLVDWLGRKNSCVLFSLTYSLCCLTKLSQDYF VLLVGRALGGLSTALLFSAFEAWYIHEHVERHDFPAEWIPATFARAAFWNHVLAVVAGVAAEAV ASWIGLGPVAPFVAAIPLLALAGALALRNWGENYDRQRAFSRTCAGGLRCLLSDRRVLLLGTIQ ALFESVIFIFVFLWTPVLDPHGAPLGIIFSSFMAASLLGSSLYRIATSKRYHLQPMHLLSLAVL IVVFSLFMLTFSTSPGQESPVESFIAFLLIELACGLYFPSMSFLRRKVIPETEQAGVLNWFRVP LHSLACLGLLVLHDSDRKTGTRNMFSICSAVMVMALLAVVGLFTVVRHDAELRVPSPTEEPYAP EL hide sequence

Ensembl Acc Id:

ENSP00000442688 ⟸ ENST00000534842

Ensembl Acc Id:

ENSP00000332624 ⟸ ENST00000329548

Ensembl Acc Id:

ENSP00000449354 ⟸ ENST00000551660

RefSeq Acc Id:	XP_054229620 ⟸ XM_054373645
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054229621 ⟸ XM_054373646
- Peptide Label:	isoform X2
- UniProtKB:	Q8NCK0 (UniProtKB/Swiss-Prot), Q8N7W8 (UniProtKB/Swiss-Prot), Q6NW04 (UniProtKB/Swiss-Prot), Q6N075 (UniProtKB/Swiss-Prot), G3V1N7 (UniProtKB/Swiss-Prot), Q96IA5 (UniProtKB/Swiss-Prot)

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q6N075-F1-model_v2	AlphaFold	Q6N075	1-450	view protein structure

Promoters

RGD ID:

6790261

Promoter ID:

HG_KWN:15749

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

ENST00000328704, NM_001170790, NM_032889

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	12	51,931,869 - 51,932,369 (+)	MPROMDB

RGD ID:

6790257

Promoter ID:

HG_KWN:15750

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Jurkat

Transcripts:

UC009ZMW.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	12	51,932,111 - 51,932,611 (+)	MPROMDB

RGD ID:

7224093

Promoter ID:

EPDNEW_H17792

Type:

initiation region

Name:

MFSD5_1

Description:

major facilitator superfamily domain containing 5

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	53,252,181 - 53,252,241	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:28156	AgrOrtholog
COSMIC	MFSD5	COSMIC
Ensembl Genes	ENSG00000182544	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000329548	ENTREZGENE
	ENST00000329548.5	UniProtKB/Swiss-Prot
	ENST00000534842	ENTREZGENE
	ENST00000534842.1	UniProtKB/Swiss-Prot
	ENST00000551660.2	UniProtKB/TrEMBL
Gene3D-CATH	1.20.1250.20	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000182544	GTEx
HGNC ID	HGNC:28156	ENTREZGENE
Human Proteome Map	MFSD5	Human Proteome Map
InterPro	MFS_trans_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	MOT2/MFSD5	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:84975	UniProtKB/Swiss-Prot
NCBI Gene	84975	ENTREZGENE
OMIM	620345	OMIM
PANTHER	MOLYBDATE-ANION TRANSPORTER	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR23516	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	MFS_5	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA142671466	PharmGKB
Superfamily-SCOP	SSF103473	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	F8VV69_HUMAN	UniProtKB/TrEMBL
	G3V1N7	ENTREZGENE
	MFSD5_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q6NW04	ENTREZGENE
	Q8N7W8	ENTREZGENE
	Q8NCK0	ENTREZGENE
	Q96IA5	ENTREZGENE
UniProt Secondary	G3V1N7	UniProtKB/Swiss-Prot
	Q6NW04	UniProtKB/Swiss-Prot
	Q8N7W8	UniProtKB/Swiss-Prot
	Q8NCK0	UniProtKB/Swiss-Prot
	Q96IA5	UniProtKB/Swiss-Prot

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

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

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

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

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