Advanced Search (OLGA)

Gene: RUSF1 (RUS family member 1) Homo sapiens

Analyze

Symbol:

RUSF1

Name:

RUS family member 1

RGD ID:

1601979

HGNC Page

HGNC:25848

Description:

Located in membrane.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

C16orf58; chromosome 16 open reading frame 58; FLJ13868; hypothetical protein LOC64755; root UVB sensitivity; RUS; RUS1 family protein C16orf58; RUS1 homolog; UPF0420 protein C16orf58

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Rusf1 (RUS family member 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Rusf1 (RUS family member 1)	HGNC	EggNOG, Ensembl, HomoloGene, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Rusf1 (RUS family member 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	RUSF1 (RUS family member 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	RUSF1 (RUS family member 1)	HGNC	EggNOG, Ensembl, HomoloGene, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Rusf1 (RUS family member 1)	NCBI	Ortholog
Sus scrofa (pig):	RUSF1 (RUS family member 1)	HGNC	EggNOG, Ensembl, NCBI, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	RUSF1 (RUS family member 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Rusf1 (RUS family member 1)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Sult4a1 (sulfotransferase family 4A, member 1)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Rusf1 (RUS family member 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Rusf1 (RUS family member 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	zgc:162613	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	CG10338	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	rusf1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)

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	16	31,489,475 - 31,508,391 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	31,489,471 - 31,509,309 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	31,500,796 - 31,519,712 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	31,408,316 - 31,427,207 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	16	28,788,683 - 28,807,579 (+)	NCBI		Celera
Cytogenetic Map	16	p11.2	NCBI
HuRef	16	29,061,002 - 29,079,946 (-)	NCBI		HuRef
CHM1_1	16	32,819,445 - 32,838,389 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	16	31,876,868 - 31,895,784 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

branched-chain keto acid dehydrogenase kinase deficiency (IAGP)

familial renal glucosuria (IAGP)

genetic disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

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

acrylamide (EXP)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

arsane (EXP)

arsenic atom (EXP)

arsenous acid (EXP)

benzo[a]pyrene (EXP)

bisphenol A (EXP,ISO)

cadmium dichloride (ISO)

cobalt dichloride (EXP)

copper(II) sulfate (EXP)

diarsenic trioxide (EXP)

doxorubicin (EXP)

endosulfan (ISO)

folic acid (ISO)

gallic acid (EXP)

glafenine (ISO)

glyphosate (ISO)

linalool (ISO)

menadione (EXP)

methotrexate (EXP)

paracetamol (ISO)

quercetin (EXP)

silicon dioxide (EXP)

sodium arsenite (EXP)

thapsigargin (EXP)

thioacetamide (ISO)

trichloroethene (ISO)

triptonide (ISO)

tunicamycin (EXP)

urethane (EXP)

valproic acid (EXP)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Cellular Component

membrane (HDA,IEA)

Molecular Function

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:14702039	PMID:15489334	PMID:16344560	PMID:19515790	PMID:19946888	PMID:21511809	PMID:21516116	PMID:24623722	PMID:26186194	PMID:26638075
PMID:27173435	PMID:27375898	PMID:28514442	PMID:28692057	PMID:29180619	PMID:31056421	PMID:31091453	PMID:32296183	PMID:32814053	PMID:33845483	PMID:33961781	PMID:34079125
PMID:34672954	PMID:35696571	PMID:35944360	PMID:36215168	PMID:36537216	PMID:36543142	PMID:36949045	PMID:37478010

Genomics

Comparative Map Data

RUSF1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	31,489,475 - 31,508,391 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	31,489,471 - 31,509,309 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	31,500,796 - 31,519,712 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	31,408,316 - 31,427,207 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	16	28,788,683 - 28,807,579 (+)	NCBI		Celera
Cytogenetic Map	16	p11.2	NCBI
HuRef	16	29,061,002 - 29,079,946 (-)	NCBI		HuRef
CHM1_1	16	32,819,445 - 32,838,389 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	16	31,876,868 - 31,895,784 (-)	NCBI		T2T-CHM13v2.0

Rusf1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	127,870,551 - 127,897,303 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	127,870,551 - 127,897,342 (-)	Ensembl		GRCm39 Ensembl
GRCm38	7	128,271,379 - 128,298,131 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	128,271,379 - 128,298,170 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	135,414,893 - 135,441,645 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	128,062,527 - 128,089,251 (-)	NCBI		MGSCv36	mm8
Celera	7	128,107,454 - 128,133,680 (-)	NCBI		Celera
Cytogenetic Map	7	F3	NCBI
cM Map	7	70.08	NCBI

Rusf1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	192,282,708 - 192,312,119 (-)	NCBI		GRCr8
mRatBN7.2	1	182,852,257 - 182,881,652 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	182,852,262 - 182,880,732 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	191,202,751 - 191,231,180 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	198,388,839 - 198,417,268 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	191,059,026 - 191,087,051 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	199,687,775 - 199,716,205 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	199,687,778 - 199,716,205 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	206,733,722 - 206,763,393 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	187,528,317 - 187,556,857 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	187,679,317 - 187,706,706 (-)	NCBI
Celera	1	180,498,192 - 180,526,017 (-)	NCBI		Celera
Cytogenetic Map	1	q37	NCBI

Rusf1
(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_004955493	8,329,810 - 8,340,910 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955493	8,329,618 - 8,341,009 (-)	NCBI	ChiLan1.0	ChiLan1.0

RUSF1
(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	18	34,698,874 - 34,717,778 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	16	39,500,297 - 39,519,201 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	16	23,457,144 - 23,476,038 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	16	31,859,969 - 31,878,665 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	16	31,859,969 - 31,878,665 (-)	Ensembl	panpan1.1		panPan2

RUSF1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	6	16,752,901 - 16,767,269 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	6	16,752,608 - 16,765,982 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	6	18,398,593 - 18,412,887 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	6	16,877,663 - 16,892,093 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	6	16,877,192 - 16,892,092 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	6	16,681,300 - 16,695,701 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	6	16,601,002 - 16,615,269 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	6	16,912,661 - 16,926,951 (+)	NCBI		UU_Cfam_GSD_1.0

Rusf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024409344	125,698,635 - 125,711,258 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936543	8,324,787 - 8,337,962 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936543	8,325,310 - 8,337,946 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

RUSF1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	3	17,065,818 - 17,082,625 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	3	17,065,780 - 17,082,441 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	3	17,341,216 - 17,349,240 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

RUSF1
(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	5	28,190,055 - 28,209,540 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	5	28,187,460 - 28,209,523 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666068	1,230,642 - 1,250,112 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Rusf1
(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_004624782	14,490,892 - 14,503,169 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624782	14,489,631 - 14,502,405 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in RUSF1
44 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_003041.4(SLC5A2):c.1961A>G (p.Asn654Ser)	single nucleotide variant	Familial renal glucosuria [RCV000013768]\|SLC5A2-related disorder [RCV003914837]\|not provided [RCV001512825]\|not specified [RCV002247333]	Chr16:31490477 [GRCh38] Chr16:31501798 [GRCh37] Chr16:16p11.2	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_022744.4(RUSF1):c.831C>G (p.Arg277=)	single nucleotide variant	not provided [RCV000122569]	Chr16:31493730 [GRCh38] Chr16:31505051 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	copy number gain	See cases [RCV000133811]	Chr16:30691912..36160463 [GRCh38] Chr16:30703233..35147508 [GRCh37] Chr16:30610734..35005009 [NCBI36] Chr16:16p11.2-11.1	pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	copy number gain	See cases [RCV000141141]	Chr16:23752047..31943755 [GRCh38] Chr16:23763368..31955076 [GRCh37] Chr16:23670869..31862577 [NCBI36] Chr16:16p12.2-11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:31154186-31926800)x3	copy number gain	Breast ductal adenocarcinoma [RCV000207245]	Chr16:31154186..31926800 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	copy number gain	Breast ductal adenocarcinoma [RCV000207053]	Chr16:1279324..31926800 [GRCh37] Chr16:16p13.3-11.2	uncertain significance
NM_003041.4(SLC5A2):c.*63G>A	single nucleotide variant	Familial renal glucosuria [RCV000304349]\|not provided [RCV004715073]	Chr16:31490598 [GRCh38] Chr16:31501919 [GRCh37] Chr16:16p11.2	benign\|uncertain significance
NM_003041.4(SLC5A2):c.1844G>C (p.Cys615Ser)	single nucleotide variant	Familial renal glucosuria [RCV000279242]	Chr16:31490360 [GRCh38] Chr16:31501681 [GRCh37] Chr16:16p11.2	uncertain significance
NM_003041.4(SLC5A2):c.1719G>T (p.Leu573=)	single nucleotide variant	Familial renal glucosuria [RCV000280556]	Chr16:31490157 [GRCh38] Chr16:31501478 [GRCh37] Chr16:16p11.2	uncertain significance
NM_003041.4(SLC5A2):c.1982T>C (p.Met661Thr)	single nucleotide variant	Familial renal glucosuria [RCV000391734]	Chr16:31490498 [GRCh38] Chr16:31501819 [GRCh37] Chr16:16p11.2	uncertain significance
NM_003041.4(SLC5A2):c.1895A>C (p.Glu632Ala)	single nucleotide variant	Familial renal glucosuria [RCV000349603]	Chr16:31490411 [GRCh38] Chr16:31501732 [GRCh37] Chr16:16p11.2	uncertain significance
NM_003041.4(SLC5A2):c.1877C>T (p.Pro626Leu)	single nucleotide variant	Familial renal glucosuria [RCV000350843]	Chr16:31490393 [GRCh38] Chr16:31501714 [GRCh37] Chr16:16p11.2	uncertain significance
NM_003041.4(SLC5A2):c.1902G>A (p.Ala634=)	single nucleotide variant	Familial renal glucosuria [RCV000400868]	Chr16:31490418 [GRCh38] Chr16:31501739 [GRCh37] Chr16:16p11.2	uncertain significance
NM_003041.4(SLC5A2):c.1692G>A (p.Arg564=)	single nucleotide variant	Familial renal glucosuria [RCV000376982]\|not provided [RCV004567861]	Chr16:31490130 [GRCh38] Chr16:31501451 [GRCh37] Chr16:16p11.2	likely benign\|uncertain significance
NM_003041.4(SLC5A2):c.1885A>G (p.Thr629Ala)	single nucleotide variant	Familial renal glucosuria [RCV000401664]\|not provided [RCV000957411]	Chr16:31490401 [GRCh38] Chr16:31501722 [GRCh37] Chr16:16p11.2	benign\|likely benign
NM_003041.4(SLC5A2):c.1926C>T (p.Asp642=)	single nucleotide variant	Familial renal glucosuria [RCV000310034]\|SLC5A2-related disorder [RCV003957651]	Chr16:31490442 [GRCh38] Chr16:31501763 [GRCh37] Chr16:16p11.2	likely benign\|uncertain significance
NM_003041.4(SLC5A2):c.1933G>A (p.Glu645Lys)	single nucleotide variant	Familial renal glucosuria [RCV000362518]	Chr16:31490449 [GRCh38] Chr16:31501770 [GRCh37] Chr16:16p11.2	uncertain significance
NM_003041.4(SLC5A2):c.1773G>T (p.Glu591Asp)	single nucleotide variant	Familial renal glucosuria [RCV000319270]	Chr16:31490211 [GRCh38] Chr16:31501532 [GRCh37] Chr16:16p11.2	uncertain significance
NM_003041.4(SLC5A2):c.1889AGG[2] (p.Glu632del)	microsatellite	Familial renal glucosuria [RCV000292292]	Chr16:31490405..31490407 [GRCh38] Chr16:31501726..31501728 [GRCh37] Chr16:16p11.2	uncertain significance
NM_003041.4(SLC5A2):c.1792+12T>C	single nucleotide variant	Familial renal glucosuria [RCV000371663]	Chr16:31490242 [GRCh38] Chr16:31501563 [GRCh37] Chr16:16p11.2	uncertain significance
Single allele	deletion	Branched-chain keto acid dehydrogenase kinase deficiency [RCV000735205]	Chr16:30554158..31536880 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	copy number gain	See cases [RCV000446684]	Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p11.2(chr16:30830287-31827011)x4	copy number gain	See cases [RCV000447708]	Chr16:30830287..31827011 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	copy number loss	See cases [RCV000448084]	Chr16:28826162..29043901 [GRCh37] Chr16:16p11.2	likely pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	copy number gain	See cases [RCV000511622]	Chr16:9273328..89548493 [GRCh37] Chr16:16p13.2-q24.3	uncertain significance
maternal UPD(16p)	complex	Hemimegalencephaly [RCV000494707]	Chr16:1280042..33710558 [GRCh37] Chr16:16p13.3-11.2	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	copy number gain	See cases [RCV000512138]	Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	copy number gain	See cases [RCV000511296]	Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3	copy number gain	not provided [RCV000738918]	Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3	copy number gain	not provided [RCV000738915]	Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3	copy number gain	not provided [RCV000738917]	Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p11.2(chr16:30738551-34194635)x3	copy number gain	not provided [RCV000739123]	Chr16:30738551..34194635 [GRCh37] Chr16:16p11.2	benign
NM_003041.4(SLC5A2):c.2013T>C (p.Tyr671=)	single nucleotide variant	Familial renal glucosuria [RCV001116119]	Chr16:31490529 [GRCh38] Chr16:31501850 [GRCh37] Chr16:16p11.2	uncertain significance
NM_003041.4(SLC5A2):c.1791T>C (p.Asn597=)	single nucleotide variant	Familial renal glucosuria [RCV001119066]	Chr16:31490229 [GRCh38] Chr16:31501550 [GRCh37] Chr16:16p11.2	uncertain significance
NM_003041.4(SLC5A2):c.2012A>T (p.Tyr671Phe)	single nucleotide variant	Familial renal glucosuria [RCV001116118]\|not provided [RCV004693712]	Chr16:31490528 [GRCh38] Chr16:31501849 [GRCh37] Chr16:16p11.2	uncertain significance
NM_003041.4(SLC5A2):c.*160C>T	single nucleotide variant	Familial renal glucosuria [RCV001117556]	Chr16:31490695 [GRCh38] Chr16:31502016 [GRCh37] Chr16:16p11.2	uncertain significance
NM_003041.4(SLC5A2):c.1690C>T (p.Arg564Trp)	single nucleotide variant	Familial renal glucosuria [RCV002468549]	Chr16:31490128 [GRCh38] Chr16:31501449 [GRCh37] Chr16:16p11.2	uncertain significance
NM_003041.4(SLC5A2):c.*70C>G	single nucleotide variant	Familial renal glucosuria [RCV001117555]	Chr16:31490605 [GRCh38] Chr16:31501926 [GRCh37] Chr16:16p11.2	uncertain significance
NM_003041.4(SLC5A2):c.*33C>G	single nucleotide variant	Familial renal glucosuria [RCV001116120]\|not provided [RCV004704411]	Chr16:31490568 [GRCh38] Chr16:31501889 [GRCh37] Chr16:16p11.2	likely benign
NM_003041.4(SLC5A2):c.*48G>A	single nucleotide variant	Familial renal glucosuria [RCV001117554]	Chr16:31490583 [GRCh38] Chr16:31501904 [GRCh37] Chr16:16p11.2	likely benign
NM_003041.4(SLC5A2):c.1806G>C (p.Pro602=)	single nucleotide variant	Familial renal glucosuria [RCV001121031]	Chr16:31490322 [GRCh38] Chr16:31501643 [GRCh37] Chr16:16p11.2	uncertain significance
NM_003041.4(SLC5A2):c.1807G>A (p.Ala603Thr)	single nucleotide variant	Familial renal glucosuria [RCV001121032]	Chr16:31490323 [GRCh38] Chr16:31501644 [GRCh37] Chr16:16p11.2	uncertain significance
NM_003041.4(SLC5A2):c.1845T>C (p.Cys615=)	single nucleotide variant	Familial renal glucosuria [RCV001121033]	Chr16:31490361 [GRCh38] Chr16:31501682 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	copy number gain	Microcephaly [RCV001252948]	Chr16:5805001..34230001 [GRCh37] Chr16:16p13.3-11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3	copy number gain	not provided [RCV001258619]	Chr16:30350747..31905898 [GRCh37] Chr16:16p11.2	uncertain significance
NM_003041.4(SLC5A2):c.1742C>T (p.Ser581Phe)	single nucleotide variant	Inborn genetic diseases [RCV002732918]	Chr16:31490180 [GRCh38] Chr16:31501501 [GRCh37] Chr16:16p11.2	uncertain significance
NM_003041.4(SLC5A2):c.1816C>T (p.Leu606Phe)	single nucleotide variant	Inborn genetic diseases [RCV002803298]	Chr16:31490332 [GRCh38] Chr16:31501653 [GRCh37] Chr16:16p11.2	likely benign
NM_003041.4(SLC5A2):c.1876C>T (p.Pro626Ser)	single nucleotide variant	Inborn genetic diseases [RCV002812647]	Chr16:31490392 [GRCh38] Chr16:31501713 [GRCh37] Chr16:16p11.2	uncertain significance
NM_003041.4(SLC5A2):c.1729G>A (p.Glu577Lys)	single nucleotide variant	Inborn genetic diseases [RCV003221087]	Chr16:31490167 [GRCh38] Chr16:31501488 [GRCh37] Chr16:16p11.2	uncertain significance
NM_003041.4(SLC5A2):c.1792+2T>C	single nucleotide variant	Familial renal glucosuria [RCV003336002]	Chr16:31490232 [GRCh38] Chr16:31501553 [GRCh37] Chr16:16p11.2	uncertain significance
NM_022744.4(RUSF1):c.864C>A (p.Asn288Lys)	single nucleotide variant	not specified [RCV004447078]	Chr16:31493697 [GRCh38] Chr16:31505018 [GRCh37] Chr16:16p11.2	uncertain significance
NM_022744.4(RUSF1):c.947C>T (p.Pro316Leu)	single nucleotide variant	not specified [RCV004447080]	Chr16:31493614 [GRCh38] Chr16:31504935 [GRCh37] Chr16:16p11.2	uncertain significance
NM_003041.4(SLC5A2):c.1678G>T (p.Val560Phe)	single nucleotide variant	SLC5A2-related disorder [RCV003927017]	Chr16:31490116 [GRCh38] Chr16:31501437 [GRCh37] Chr16:16p11.2	uncertain significance
NM_022744.4(RUSF1):c.442G>A (p.Val148Ile)	single nucleotide variant	not specified [RCV004447077]	Chr16:31500705 [GRCh38] Chr16:31512026 [GRCh37] Chr16:16p11.2	likely benign
NM_022744.4(RUSF1):c.890A>G (p.Lys297Arg)	single nucleotide variant	not specified [RCV004447079]	Chr16:31493671 [GRCh38] Chr16:31504992 [GRCh37] Chr16:16p11.2	uncertain significance
NM_003041.4(SLC5A2):c.1915C>T (p.Arg639Trp)	single nucleotide variant	Inborn genetic diseases [RCV004464084]	Chr16:31490431 [GRCh38] Chr16:31501752 [GRCh37] Chr16:16p11.2	uncertain significance
NM_003041.4(SLC5A2):c.1978A>G (p.Met660Val)	single nucleotide variant	Familial renal glucosuria [RCV003991203]	Chr16:31490494 [GRCh38] Chr16:31501815 [GRCh37] Chr16:16p11.2	uncertain significance
NM_003041.4(SLC5A2):c.2004G>C (p.Trp668Cys)	single nucleotide variant	Inborn genetic diseases [RCV004464085]	Chr16:31490520 [GRCh38] Chr16:31501841 [GRCh37] Chr16:16p11.2	uncertain significance
NM_003041.4(SLC5A2):c.1951C>G (p.Arg651Gly)	single nucleotide variant	Inborn genetic diseases [RCV004674906]	Chr16:31490467 [GRCh38] Chr16:31501788 [GRCh37] Chr16:16p11.2	uncertain significance
NM_003041.4(SLC5A2):c.1830C>A (p.Cys610Ter)	single nucleotide variant	Familial renal glucosuria [RCV004598544]	Chr16:31490346 [GRCh38] Chr16:31501667 [GRCh37] Chr16:16p11.2	likely pathogenic
NM_003041.4(SLC5A2):c.1901C>T (p.Ala634Val)	single nucleotide variant	Inborn genetic diseases [RCV004674908]	Chr16:31490417 [GRCh38] Chr16:31501738 [GRCh37] Chr16:16p11.2	likely benign
NM_022744.4(RUSF1):c.*601C>G	single nucleotide variant	C16orf58-related condition [RCV004759011]	Chr16:31490234 [GRCh38] Chr16:31501555 [GRCh37] Chr16:16p11.2	likely benign

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	4624
Count of miRNA genes:	1037
Interacting mature miRNAs:	1283
Transcripts:	ENST00000327237, ENST00000430477, ENST00000541442, ENST00000564807, ENST00000565128, ENST00000566148, ENST00000567578, ENST00000567673, ENST00000567994, ENST00000568491, ENST00000570164
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.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
407253036	GWAS902012_H	mean corpuscular hemoglobin concentration QTL GWAS902012 (human)		7e-13	mean corpuscular hemoglobin concentration	mean corpuscular hemoglobin concentration (CMO:0000291)	16	31506885	31506886	Human
407306185	GWAS955161_H	mean corpuscular hemoglobin concentration QTL GWAS955161 (human)		4e-12	mean corpuscular hemoglobin concentration	mean corpuscular hemoglobin concentration (CMO:0000291)	16	31506885	31506886	Human

Markers in Region

RH65072

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	31,520,130 - 31,520,254	UniSTS	GRCh37
Build 36	16	31,427,631 - 31,427,755	RGD	NCBI36
Celera	16	28,788,135 - 28,788,259	RGD
Cytogenetic Map	16	p11.2	UniSTS
HuRef	16	29,080,336 - 29,080,460	UniSTS

RH69206

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	31,501,849 - 31,502,021	UniSTS	GRCh37
Build 36	16	31,409,350 - 31,409,522	RGD	NCBI36
Celera	16	28,806,368 - 28,806,540	RGD
Cytogenetic Map	16	p11.2	UniSTS
HuRef	16	29,062,055 - 29,062,227	UniSTS

RH98795

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	31,501,046 - 31,501,166	UniSTS	GRCh37
Build 36	16	31,408,547 - 31,408,667	RGD	NCBI36
Celera	16	28,807,223 - 28,807,343	RGD
Cytogenetic Map	16	p11.2	UniSTS
HuRef	16	29,061,252 - 29,061,372	UniSTS

SHGC-58809

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	31,498,601 - 31,498,721	UniSTS	GRCh37
Build 36	16	31,406,102 - 31,406,222	RGD	NCBI36
Celera	16	28,809,668 - 28,809,788	RGD
Cytogenetic Map	16	p11.2	UniSTS
HuRef	16	29,058,807 - 29,058,927	UniSTS
TNG Radiation Hybrid Map	16	17549.0	UniSTS

SHGC-145625

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	31,513,116 - 31,513,388	UniSTS	GRCh37
Build 36	16	31,420,617 - 31,420,889	RGD	NCBI36
Celera	16	28,795,001 - 28,795,273	RGD
Cytogenetic Map	16	p11.2	UniSTS
HuRef	16	29,073,322 - 29,073,594	UniSTS
TNG Radiation Hybrid Map	16	17554.0	UniSTS

SHGC-61098

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	31,500,821 - 31,500,959	UniSTS	GRCh37
Build 36	16	31,408,322 - 31,408,460	RGD	NCBI36
Celera	16	28,807,430 - 28,807,568	RGD
Cytogenetic Map	16	p11.2	UniSTS
HuRef	16	29,061,027 - 29,061,165	UniSTS

Expression

RNA-SEQ Expression

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

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4974	1726	2351	6	624	1951	465	2270	7306	6472	53	3734	1	852	1744	1617	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_033149	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_022744	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017023570	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047434496	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054313709	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_950831	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC026471	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK000679	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK023930	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK092580	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK222913	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK296166	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK296491	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK304608	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL834462	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC000822	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC009308	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC059952	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CA448699	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471192	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068262	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA742232	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000327237 ⟹ ENSP00000317579

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	31,489,475 - 31,508,391 (-)	Ensembl

Ensembl Acc Id:

ENST00000430477 ⟹ ENSP00000398074

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	31,489,498 - 31,508,379 (-)	Ensembl

Ensembl Acc Id:

ENST00000541442

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	31,493,455 - 31,508,384 (-)	Ensembl

Ensembl Acc Id:

ENST00000564807 ⟹ ENSP00000459952

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	31,496,879 - 31,509,309 (-)	Ensembl

Ensembl Acc Id:

ENST00000565128 ⟹ ENSP00000456602

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	31,493,736 - 31,508,386 (-)	Ensembl

Ensembl Acc Id:

ENST00000566148

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	31,499,242 - 31,508,154 (-)	Ensembl

Ensembl Acc Id:

ENST00000567578 ⟹ ENSP00000457087

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	31,493,899 - 31,508,384 (-)	Ensembl

Ensembl Acc Id:

ENST00000567673

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	31,493,197 - 31,496,952 (-)	Ensembl

Ensembl Acc Id:

ENST00000567994 ⟹ ENSP00000456050

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	31,490,273 - 31,508,384 (-)	Ensembl

Ensembl Acc Id:

ENST00000568491

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	31,489,494 - 31,493,738 (-)	Ensembl

Ensembl Acc Id:

ENST00000570164 ⟹ ENSP00000456775

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	31,489,471 - 31,508,391 (-)	Ensembl

RefSeq Acc Id:

NM_022744 ⟹ NP_073581

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	31,489,475 - 31,508,391 (-)	NCBI
GRCh37	16	31,500,796 - 31,519,740 (-)	NCBI
Build 36	16	31,408,316 - 31,427,207 (-)	NCBI Archive
Celera	16	28,788,683 - 28,807,579 (+)	RGD
HuRef	16	29,061,002 - 29,079,946 (-)	NCBI
CHM1_1	16	32,819,445 - 32,838,389 (-)	NCBI
T2T-CHM13v2.0	16	31,876,868 - 31,895,784 (-)	NCBI

Sequence:

show sequence

GGGATCCAAAAGCTCGGCATGGCTGACGACGCGGGTTTGGAGACCCCGCTGTGTTCCGAGCAGT
TCGGCTCCGGGGAGGCACGGGGCTGCCGCGCCGCCGCGGACGGGAGCCTGCAGTGGGAGGTCGG
GGGCTGGCGCTGGTGGGGGCTCTCCAGGGCCTTCACGGTCAAACCTGAAGGACGAGATGCGGGC
GAAGTGGGGGCTTCCGGGGCCCCCTCACCGCCCCTCTCCGGGCTCCAGGCCGTGTTCCTGCCTC
AGGGCTTCCCTGATAGCGTCAGCCCGGACTACTTGCCCTACCAGCTGTGGGATTCCGTGCAGGC
GTTTGCTTCCAGCCTCTCCGGCTCCCTAGCCACCCAGGCAGTCTTGCTGGGCATAGGGGTGGGG
AACGCAAAAGCCACTGTTTCAGCTGCCACGGCCACCTGGCTCGTGAAAGATTCAACTGGCATGC
TGGGCCGCATCGTCTTTGCCTGGTGGAAAGGGAGCAAACTGGACTGCAATGCCAAGCAGTGGAG
GCTTTTTGCGGACATCCTCAATGACGTAGCCATGTTCCTTGAGATTATGGCTCCTGTATACCCA
ATCTGTTTCACCATGACCGTCTCCACCAGCAACCTAGCCAAGTGCATCGTGAGTGTTGCTGGTG
GGGCCACTCGGGCTGCCCTGACCGTGCACCAGGCTCGGAGGAACAACATGGCTGACGTGTCAGC
CAAGGACAGCAGCCAGGAGACGCTGGTGAACCTGGCGGGGCTCTTGGTCAGCCTCCTGATGCTC
CCTCTGGTGTCAGGTTGCCCTGGCTTCAGCCTTGGATGTTTCTTCTTCCTCACTGCCCTCCACA
TCTACGCCAACTACCGCGCGGTCCGAGCCCTGGTCATGGAGACCTTGAACGAAGGCCGGCTCCG
GCTGGTCCTGAAGCACTACCTTCAGAGGGGAGAGGTACTCGACCCAACTGCAGCCAATCGCATG
GAGCCGCTGTGGACAGGTTTCTGGCCAGCTCCGTCTCTATCCCTGGGGGTCCCCTTACACCGCT
TGGTCTCCAGTGTCTTTGAGCTGCAGCAGCTGGTTGAGGGGCACCAAGAATCCTACCTCCTCTG
CTGGGACCAGTCACAAAACCAGGTACAGGTAGTTCTGAACCAGAAGGCAGGCCCCAAGACCATC
CTAAGGGCCGCCACACATGGGCTGATGCTTGGGGCCCTGCAGGGAGATGGACCCCTTCCAGCAG
AGCTGGAGGAGCTGAGGAACCGGGTGCGGGCAGGTCCTAAGAAAGAGAGCTGGGTCGTCGTCAA
GGAGACACACGAAGTGTTGGACATGCTGTTCCCAAAGTTCTTGAAAGGACTGCAGGATGCCGGC
TGGAAGACCGAGAAGCACCAGCTAGAGGTGGATGAGTGGAGGGCCACATGGCTTCTGTCTCCCG
AAAAGAAGGTCTTGTGAGCAGCCCAGACGGAGGCCCAAGCCCAGGGCAGGAACCTGGAGCAAGG
ACACTTTGGCCACAGCAGGACAGGGGAAAGGCAGCTTTATTTTTCCTTAGGGCAACTGCAGCGG
GTGGGCCAGGCCCTCATGGGAAGTGACTGCCAATCAGATGCAGTGGGCCCCAGGCAGAGGAAGG
CCGGGAGAAGGGGAGCCAGGACCTTCTCACCCCACTGCCCCTTCCCCTTTTCTGGGGAGCACCG
CAGGCTCCTCACCCCCACTTCCTGTGAGGCTGTGGCTTATGGTGTCCAACGCAGTTGGTCTTAG
GCATAGAAGCCCCAGAGGAACACGGCCACTGCCATCATGAGCAGGGCATTGAGGTTGACCACAC
GGGCCCAGCTCGGGTCCTCGCTGATGTCCTCCAGCCGCCTGGCTGCTGCCGCTGCCTCCTCCTG
GGTAAGGGGCGGAGGACTGCCCACCCCACCTCTGCTCATTCCACAAAACCAGAGCAGGCACTGG
CGGAAGAGGCTTGGTGCCGGGGCCTGGGGCTCTGAGGGAAATTGAGGCCCTGCAGTTAGTTTGC
GGGAACTCAGCTCCTCCAGCCCCACCTCCCAGCATGGTGCCCTACCATTCATCTCCATGGCACT
CTCTGGGCACCCATTCTGTACAGGGAGTGAGGAGCCTTGCTGCTCATCAGCATCCAGGTCCTCC
CGTTCCTCCTTGCTATGCCGGAGACTGAAGACCAGGCGGTGGAGCTGGGGAGGGTGGGAGCACG
AACGAGGTGGGAGTTCTGTCCCCCCATGCCTGGCCCTAAAGTCTCTTGCACACCAGCTCGTCAC
TGCCTGCCCTACCCACCTCTGTCCAGTCTACACACCCAGCCCAGGCTTAACTCATGCCAACTCC
ACCCTACATGGCTGCCCTGTGCCCTCGGGATAAACCCCAAGCCCCTGAGCTTGTGTTTAAAGCC
GTTGGCCTTGCTCCCCCAGCTTTGTCAGCTCAGGTCTGTCTACACCCAGATGGTAGCGCTTGTG
ACACTGGCCTGGCAGTCCTGCTCACAGTGTTCTGTGCCTGTGTGCTCCCACCCTTTCCTCCTGC
TGCTGCAGAAACCCGGCCATCCTTCCACACCCAGATCTCTTGTCCTGTCCTCACCCCACCCTGC
CACCATCAGCCCTGCCTGGAGCCACCTGCCCTTTGGCAACAAAACCAAACCTTTTTGTGGGCGT
TCAAGATGGTATTGTGCCCACCAGTCAGATCCTGTGTTTTGAGTCCCAAAGGCCATGCCAAGGA
TTGGCTTTGGGAGGCTTTAATCACCAACCCATCAACATCAAGCCTCCCCCAGGCCGGTTCAAAT
AAATGTATTTAAATAAAAATTCTTGCTCGGCAA

hide sequence

RefSeq Acc Id:

XM_047434496 ⟹ XP_047290452

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	31,492,306 - 31,508,391 (-)	NCBI

RefSeq Acc Id:

XM_054313709 ⟹ XP_054169684

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	16	31,879,699 - 31,895,784 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_073581	(Get FASTA)	NCBI Sequence Viewer
	XP_047290452	(Get FASTA)	NCBI Sequence Viewer
	XP_054169684	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH00822	(Get FASTA)	NCBI Sequence Viewer
	AAH09308	(Get FASTA)	NCBI Sequence Viewer
	BAB14730	(Get FASTA)	NCBI Sequence Viewer
	BAC03918	(Get FASTA)	NCBI Sequence Viewer
	BAD96633	(Get FASTA)	NCBI Sequence Viewer
	BAG58904	(Get FASTA)	NCBI Sequence Viewer
	BAG59128	(Get FASTA)	NCBI Sequence Viewer
	BAG65393	(Get FASTA)	NCBI Sequence Viewer
	EAW52119	(Get FASTA)	NCBI Sequence Viewer
	EAW52120	(Get FASTA)	NCBI Sequence Viewer
	EAW52121	(Get FASTA)	NCBI Sequence Viewer
	EAW52122	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000317579
	ENSP00000317579.2
	ENSP00000456050.1
	ENSP00000456602.1
	ENSP00000456775.1
	ENSP00000457087.1
	ENSP00000459952.1
GenBank Protein	Q96GQ5	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_073581 ⟸ NM_022744

- UniProtKB:

Q9BVY3 (UniProtKB/Swiss-Prot), Q8NAJ4 (UniProtKB/Swiss-Prot), Q53GL8 (UniProtKB/Swiss-Prot), Q9H887 (UniProtKB/Swiss-Prot), Q96GQ5 (UniProtKB/Swiss-Prot), H3BSM7 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MADDAGLETPLCSEQFGSGEARGCRAAADGSLQWEVGGWRWWGLSRAFTVKPEGRDAGEVGASG
APSPPLSGLQAVFLPQGFPDSVSPDYLPYQLWDSVQAFASSLSGSLATQAVLLGIGVGNAKATV
SAATATWLVKDSTGMLGRIVFAWWKGSKLDCNAKQWRLFADILNDVAMFLEIMAPVYPICFTMT
VSTSNLAKCIVSVAGGATRAALTVHQARRNNMADVSAKDSSQETLVNLAGLLVSLLMLPLVSGC
PGFSLGCFFFLTALHIYANYRAVRALVMETLNEGRLRLVLKHYLQRGEVLDPTAANRMEPLWTG
FWPAPSLSLGVPLHRLVSSVFELQQLVEGHQESYLLCWDQSQNQVQVVLNQKAGPKTILRAATH
GLMLGALQGDGPLPAELEELRNRVRAGPKKESWVVVKETHEVLDMLFPKFLKGLQDAGWKTEKH
QLEVDEWRATWLLSPEKKVL

hide sequence

Ensembl Acc Id:

ENSP00000456775 ⟸ ENST00000570164

Ensembl Acc Id:

ENSP00000398074 ⟸ ENST00000430477

Ensembl Acc Id:

ENSP00000317579 ⟸ ENST00000327237

Ensembl Acc Id:

ENSP00000459952 ⟸ ENST00000564807

Ensembl Acc Id:

ENSP00000456602 ⟸ ENST00000565128

Ensembl Acc Id:

ENSP00000456050 ⟸ ENST00000567994

Ensembl Acc Id:

ENSP00000457087 ⟸ ENST00000567578

RefSeq Acc Id:	XP_047290452 ⟸ XM_047434496
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054169684 ⟸ XM_054313709
- Peptide Label:	isoform X1

Protein Domains

Protein root UVB sensitive/RUS

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q96GQ5-F1-model_v2	AlphaFold	Q96GQ5	1-468	view protein structure

Promoters

RGD ID:

6792841

Promoter ID:

HG_KWN:23634

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

UC002ECG.2

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	31,406,451 - 31,408,772 (-)	MPROMDB

RGD ID:

6850770

Promoter ID:

EP73179

Type:

multiple initiation site

Name:

HS_FLJ13868

Description:

Hypothetical protein FLJ13868.

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

NEDO full length human cDNA sequencing project.; Oligo-capping

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	31,427,208 - 31,427,268	EPD

RGD ID:

7232107

Promoter ID:

EPDNEW_H21799

Type:

initiation region

Name:

C16orf58_1

Description:

chromosome 16 open reading frame 58

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H21800

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	31,508,384 - 31,508,444	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:25848	AgrOrtholog
COSMIC	RUSF1	COSMIC
Ensembl Genes	ENSG00000140688	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000327237	ENTREZGENE
	ENST00000327237.7	UniProtKB/Swiss-Prot
	ENST00000564807.5	UniProtKB/TrEMBL
	ENST00000565128.5	UniProtKB/TrEMBL
	ENST00000567578.1	UniProtKB/TrEMBL
	ENST00000567994.5	UniProtKB/TrEMBL
	ENST00000570164.5	UniProtKB/TrEMBL
GTEx	ENSG00000140688	GTEx
HGNC ID	HGNC:25848	ENTREZGENE
Human Proteome Map	RUSF1	Human Proteome Map
InterPro	RUS_fam	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	UVB_sens_RUS_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:64755	UniProtKB/Swiss-Prot
NCBI Gene	64755	ENTREZGENE
PANTHER	PTHR12770	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RUS FAMILY MEMBER 1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	DUF647	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA166352087	PharmGKB
UniProt	H3BR29_HUMAN	UniProtKB/TrEMBL
	H3BS97_HUMAN	UniProtKB/TrEMBL
	H3BSM7	ENTREZGENE, UniProtKB/TrEMBL
	H3BTA0_HUMAN	UniProtKB/TrEMBL
	I3L2V0_HUMAN	UniProtKB/TrEMBL
	Q53GL8	ENTREZGENE
	Q8NAJ4	ENTREZGENE
	Q96GQ5	ENTREZGENE
	Q9BVY3	ENTREZGENE
	Q9H887	ENTREZGENE
	RUS1_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	Q53GL8	UniProtKB/Swiss-Prot
	Q8NAJ4	UniProtKB/Swiss-Prot
	Q9BVY3	UniProtKB/Swiss-Prot
	Q9H887	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2020-01-28	RUSF1	RUS family member 1	C16orf58	chromosome 16 open reading frame 58	Symbol and/or name change	5135510	APPROVED

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

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

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

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

Send us a Message

Imported Disease Annotations - ClinVar