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Gene: SUN5 (Sad1 and UNC84 domain containing 5) Homo sapiens

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Symbol:

SUN5

Name:

Sad1 and UNC84 domain containing 5

RGD ID:

1314928

HGNC Page

HGNC:16252

Description:

Predicted to enable protein-membrane adaptor activity. Involved in spermatogenesis. Located in nuclear inner membrane and sperm head-tail coupling apparatus. Implicated in spermatogenic failure 16.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

dJ726C3.1; MGC33594; sad1 and UNC84 domain-containing protein 5; SPAG4L; sperm associated antigen 4-like; sperm-associated antigen 4-like protein; SPGF16; SUN domain-containing protein 5; testis and spermatogenesis related gene 4; testis and spermatogenesis-related gene 4 protein; TSARG4

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	20	32,983,775 - 33,004,433 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	20	32,983,773 - 33,004,433 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	20	31,571,581 - 31,592,239 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	20	31,035,242 - 31,055,900 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	20	31,035,242 - 31,055,900	NCBI
Celera	20	28,325,457 - 28,346,116 (-)	NCBI		Celera
Cytogenetic Map	20	q11.21	NCBI
HuRef	20	28,358,932 - 28,379,615 (-)	NCBI		HuRef
CHM1_1	20	31,471,124 - 31,492,379 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	20	34,710,456 - 34,731,124 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SUN5	Human	glutathione synthetase deficiency		IAGP	RGD:405874612	8554872	ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA	ClinVar	PMID:12638941\|PMID:15717202\|PMID:28492532
SUN5	Human	glutatione synthetase deficiency with 5-oxoprolinuria		IAGP	RGD:405874612	8554872	ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY	ClinVar	PMID:12638941\|PMID:15717202\|PMID:28492532
SUN5	Human	hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase		IAGP	RGD:405874644	8554872	ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	ClinVar	PMID:15024124\|PMID:20852937\|PMID:28492532
SUN5	Human	immunodeficiency-centromeric instability-facial anomalies syndrome 1		IAGP	RGD:405874614	8554872	ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	ClinVar	PMID:11102980\|PMID:28492532
SUN5	Human	spermatogenic failure 16		IAGP	RGD:11567368	8554872	ClinVar Annotator: match by term: Spermatogenic failure 16	ClinVar	PMID:25741868\|PMID:27640305\|PMID:28492532\|PMID:29331481
SUN5	Human	spermatogenic failure 16		IAGP	RGD:11567553\|RGD:11567968\|RGD:11567981\|RGD:11567988	8554872	ClinVar Annotator: match by term: Spermatogenic failure 16	ClinVar	PMID:27640305
SUN5	Human	spermatogenic failure 16		IAGP	RGD:11567554	8554872	ClinVar Annotator: match by term: Spermatogenic failure 16	ClinVar	PMID:25741868\|PMID:27640305

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SUN5	Human	spermatogenic failure 16		IAGP		7240710		OMIM

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SUN5	Human	2,3,7,8-tetrachlorodibenzodioxine	multiple interactions	ISO	RGD:1314929	6480464	Tetrachlorodibenzodioxin promotes the reaction [AHR protein binds to SUN5 promoter]	CTD	PMID:19654925
SUN5	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	RGD:1314929	6480464	Tetrachlorodibenzodioxin affects the expression of SUN5 mRNA	CTD	PMID:21570461
SUN5	Human	6-propyl-2-thiouracil	decreases expression	ISO	RGD:1306357	6480464	Propylthiouracil results in decreased expression of SUN5 mRNA	CTD	PMID:24780913
SUN5	Human	benzo[a]pyrene	multiple interactions	ISO	RGD:1314929	6480464	Benzo(a)pyrene promotes the reaction [AHR protein binds to SUN5 promoter]	CTD	PMID:19654925
SUN5	Human	benzo[a]pyrene	decreases methylation	EXP		6480464	Benzo(a)pyrene results in decreased methylation of SUN5 promoter	CTD	PMID:27901495
SUN5	Human	benzo[a]pyrene	decreases expression	ISO	RGD:1314929	6480464	Benzo(a)pyrene results in decreased expression of SUN5 mRNA	CTD	PMID:22228805
SUN5	Human	bisphenol A	decreases expression	ISO	RGD:1306357	6480464	bisphenol A results in decreased expression of SUN5 mRNA	CTD	PMID:25181051\|PMID:30816183\|PMID:32528016
SUN5	Human	bisphenol A	decreases methylation	ISO	RGD:1314929	6480464	bisphenol A results in decreased methylation of SUN5 promoter	CTD	PMID:27312807
SUN5	Human	carbon nanotube	increases expression	ISO	RGD:1314929	6480464	Nanotubes, Carbon analog results in increased expression of SUN5 mRNA	CTD	PMID:25554681
SUN5	Human	copper atom	increases expression	ISO	RGD:1306357	6480464	Copper deficiency results in increased expression of SUN5 mRNA	CTD	PMID:26033743
SUN5	Human	copper(0)	increases expression	ISO	RGD:1306357	6480464	Copper deficiency results in increased expression of SUN5 mRNA	CTD	PMID:26033743
SUN5	Human	folic acid	decreases expression	ISO	RGD:1314929	6480464	Folic Acid results in decreased expression of SUN5 mRNA	CTD	PMID:25629700
SUN5	Human	lead diacetate	multiple interactions	ISO	RGD:1314929	6480464	[lead acetate results in increased abundance of Lead] which results in increased methylation of SUN5 more ...	CTD	PMID:33445541
SUN5	Human	lead(0)	multiple interactions	ISO	RGD:1314929	6480464	[lead acetate results in increased abundance of Lead] which results in increased methylation of SUN5 more ...	CTD	PMID:33445541
SUN5	Human	methotrexate	affects expression	ISO	RGD:1314929	6480464	Methotrexate affects the expression of SUN5 mRNA	CTD	PMID:18502557
SUN5	Human	paracetamol	affects expression	ISO	RGD:1314929	6480464	Acetaminophen affects the expression of SUN5 mRNA	CTD	PMID:17562736
SUN5	Human	propanal	decreases expression	EXP		6480464	propionaldehyde results in decreased expression of SUN5 mRNA	CTD	PMID:26079696
SUN5	Human	resveratrol	multiple interactions	EXP		6480464	[Plant Extracts co-treated with Resveratrol] results in decreased expression of SUN5 mRNA	CTD	PMID:23557933

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SUN5	Human	cell differentiation	involved_in	IEA	UniProtKB-KW:KW-0221	150520179		UniProt	GO_REF:0000043
SUN5	Human	protein-containing complex assembly	acts_upstream_of_or_within	ISO	RGD:1314929	9068941	PMID:34389728	MGI	PMID:34389728
SUN5	Human	regulation of protein localization	acts_upstream_of_or_within	ISO	RGD:1314929	9068941	PMID:34389728	MGI	PMID:34389728
SUN5	Human	spermatid development	involved_in	ISS	UniProtKB:Q9DA32	150520179		UniProt	GO_REF:0000024
SUN5	Human	spermatogenesis	acts_upstream_of_or_within	ISO	RGD:1314929	9068941	PMID:34389728	MGI	PMID:34389728
SUN5	Human	spermatogenesis	involved_in	IEP		150520179	PMID:12621555	UniProt	PMID:12621555
SUN5	Human	spermatogenesis	involved_in	IEA	UniProtKB-KW:KW-0744	150520179		UniProt	GO_REF:0000043

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SUN5	Human	Golgi apparatus	located_in	IEA	UniProtKB-KW:KW-0333	150520179		UniProt	GO_REF:0000043
SUN5	Human	Golgi apparatus	located_in	IEA	UniProtKB-SubCell:SL-0132	150520179		UniProt	GO_REF:0000044
SUN5	Human	meiotic nuclear membrane microtubule tethering complex	part_of	IBA	MGI:3041199\|PANTHER:PTN000308197\|PomBase:SPBC12D12.01\|UniProtKB:O94901\|UniProtKB:Q9UH99	150520179		GO_Central	GO_REF:0000033
SUN5	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
SUN5	Human	nuclear envelope	is_active_in	IBA	FB:FBgn0265003\|MGI:1924303\|MGI:2443011\|MGI:3041199\|PANTHER:PTN000308195\|PomBase:SPBC12D12.01\|SGD:S000003556\|TAIR:locus:2103182\|TAIR:locus:2175354\|UniProtKB:O94901\|UniProtKB:Q8TC36\|UniProtKB:Q9UH99\|WB:WBGene00006311\|WB:WBGene00006816\|dictyBase:DDB_G0272869	150520179		GO_Central	GO_REF:0000033
SUN5	Human	nuclear inner membrane	located_in	IDA		150520179	PMID:27640305	UniProt	PMID:27640305
SUN5	Human	nuclear inner membrane	located_in	IEA	UniProtKB-SubCell:SL-0179	150520179		UniProt	GO_REF:0000044
SUN5	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
SUN5	Human	sperm head-tail coupling apparatus	located_in	ISS	UniProtKB:Q9DA32	150520179		UniProt	GO_REF:0000024
SUN5	Human	sperm head-tail coupling apparatus	is_active_in	ISO	RGD:1314929	9068941	PMID:34389728	MGI	PMID:34389728
SUN5	Human	sperm head-tail coupling apparatus	located_in	IDA		150520179	PMID:27640305	UniProt	PMID:27640305

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SUN5	Human	membrane-membrane adaptor activity	enables	IBA	PANTHER:PTN000308195\|PomBase:SPBC12D12.01\|TAIR:locus:2103182\|TAIR:locus:2175354\|UniProtKB:O94901\|UniProtKB:Q9UH99	150520179		GO_Central	GO_REF:0000033
SUN5	Human	protein binding	enables	IPI	UniProtKB:Q9NPE6	150520179	PMID:32296183	IntAct	PMID:32296183

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SUN5	Human	Abnormal sperm mid-piece morphology		IAGP		8699517		HPO	ORPHA:529970
SUN5	Human	Abnormality of chromosome segregation		IAGP		8699517		HPO	ORPHA:529970
SUN5	Human	Acephalic spermatozoa		IAGP		8699517		HPO	MIM:617187\|ORPHA:529970
SUN5	Human	Androgen insufficiency		IAGP		8699517		HPO	ORPHA:529970
SUN5	Human	Autosomal recessive inheritance		IAGP		8699517		HPO	MIM:617187\|PMID:27640305
SUN5	Human	Male infertility		IAGP		8699517		HPO	MIM:617187\|PMID:27640305\|ORPHA:529970
SUN5	Human	Oligozoospermia		IAGP		8699517		HPO	ORPHA:529970
SUN5	Human	Reduced sperm motility		IAGP		8699517		HPO	MIM:617187\|ORPHA:529970
SUN5	Human	Young adult onset		IAGP		8699517		HPO	MIM:617187\|PMID:27640305

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SUN5	Human	Reduced glutathione synthetase level		IAGP	RGD:405874612	8554872	ClinVar Annotator: match by term: Reduced glutathione synthetase level	ClinVar	PMID:12638941\|PMID:15717202\|PMID:28492532

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:9691178	PMID:10373309	PMID:11780052	PMID:11988320	PMID:12477932	PMID:12621555	PMID:14702039	PMID:15489334	PMID:20237496	PMID:21711156	PMID:21832049	PMID:21873635
PMID:23314748	PMID:27640305	PMID:28541472	PMID:29298896	PMID:29331481	PMID:32285443	PMID:32296183	PMID:33671757	PMID:33961781	PMID:34159570	PMID:38870534

SUN5
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	20	32,983,775 - 33,004,433 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	20	32,983,773 - 33,004,433 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	20	31,571,581 - 31,592,239 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	20	31,035,242 - 31,055,900 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	20	31,035,242 - 31,055,900	NCBI
Celera	20	28,325,457 - 28,346,116 (-)	NCBI		Celera
Cytogenetic Map	20	q11.21	NCBI
HuRef	20	28,358,932 - 28,379,615 (-)	NCBI		HuRef
CHM1_1	20	31,471,124 - 31,492,379 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	20	34,710,456 - 34,731,124 (-)	NCBI		T2T-CHM13v2.0

Sun5
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	153,698,108 - 153,713,281 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	153,698,108 - 153,713,004 (-)	Ensembl		GRCm39 Ensembl
GRCm38	2	153,856,188 - 153,871,365 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	153,856,188 - 153,871,084 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	153,681,926 - 153,696,820 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	153,547,631 - 153,562,525 (-)	NCBI		MGSCv36	mm8
Celera	2	159,690,209 - 159,704,617 (-)	NCBI		Celera
Cytogenetic Map	2	H1	NCBI
cM Map	2	75.99	NCBI

Sun5
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	162,795,096 - 162,815,521 (-)	NCBI		GRCr8
mRatBN7.2	3	142,334,931 - 142,355,349 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	142,334,928 - 142,355,330 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	3	146,237,184 - 146,257,443 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	3	154,821,013 - 154,841,272 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	3	152,561,276 - 152,581,535 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	3	149,336,136 - 149,356,191 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	149,336,238 - 149,356,192 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	155,714,461 - 155,733,937 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	144,236,963 - 144,257,526 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	3	144,142,611 - 144,166,955 (-)	NCBI
Celera	3	141,076,252 - 141,096,493 (-)	NCBI		Celera
Cytogenetic Map	3	q41	NCBI

Sun5
(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_004955422	28,252,375 - 28,273,814 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955422	28,252,245 - 28,273,457 (+)	NCBI	ChiLan1.0	ChiLan1.0

SUN5
(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	21	38,672,591 - 38,693,775 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	20	38,665,689 - 38,686,873 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	20	29,269,845 - 29,290,474 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	20	30,388,096 - 30,408,883 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	20	30,388,096 - 30,408,883 (-)	Ensembl	panpan1.1		panPan2

SUN5
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	24	22,255,919 - 22,272,304 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	24	22,255,921 - 22,272,170 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	24	21,901,547 - 21,917,932 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	24	22,941,683 - 22,958,062 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	24	22,941,685 - 22,958,076 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	24	22,217,334 - 22,233,703 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	24	22,327,357 - 22,343,740 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	24	22,758,316 - 22,774,696 (-)	NCBI		UU_Cfam_GSD_1.0

Sun5
(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_024408640	171,255,168 - 171,270,723 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936485	19,686,894 - 19,701,946 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936485	19,686,894 - 19,701,946 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SUN5
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	17	36,508,100 - 36,528,298 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	17	36,508,569 - 36,528,052 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	17	41,445,512 - 41,465,061 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SUN5
(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	2	37,354,675 - 37,376,019 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	2	37,354,706 - 37,375,442 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666050	89,529,125 - 89,552,733 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Sun5
(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_004624842	6,288,621 - 6,310,211 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624842	6,289,004 - 6,309,607 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in SUN5
41 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	copy number gain	See cases [RCV000052999]	Chr20:9811433..39316956 [GRCh38] Chr20:9792081..37945599 [GRCh37] Chr20:9740081..37379013 [NCBI36] Chr20:20p12.2-q12	pathogenic
NM_080675.3(SUN5):c.1005C>T (p.Phe335=)	single nucleotide variant	Malignant melanoma [RCV000072579]	Chr20:32983929 [GRCh38] Chr20:31571735 [GRCh37] Chr20:31035396 [NCBI36] Chr20:20q11.21	not provided
NM_080675.3(SUN5):c.696G>A (p.Trp232Ter)	single nucleotide variant	Malignant melanoma [RCV000063710]	Chr20:32987693 [GRCh38] Chr20:31575499 [GRCh37] Chr20:31039160 [NCBI36] Chr20:20q11.21	not provided
GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3	copy number gain	See cases [RCV000135358]	Chr20:31254983..33473080 [GRCh38] Chr20:29842786..32060886 [GRCh37] Chr20:29306447..31524547 [NCBI36] Chr20:20q11.21	pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	copy number gain	See cases [RCV000135859]	Chr20:99557..64277321 [GRCh38] Chr20:80198..62908674 [GRCh37] Chr20:28198..62379118 [NCBI36] Chr20:20p13-q13.33	pathogenic
GRCh38/hg38 20q11.21(chr20:33002915-33065173)x3	copy number gain	See cases [RCV000140107]	Chr20:33002915..33065173 [GRCh38] Chr20:31590721..31652979 [GRCh37] Chr20:31054382..31116640 [NCBI36] Chr20:20q11.21	benign
GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	copy number gain	See cases [RCV000141833]	Chr20:32062768..35906606 [GRCh38] Chr20:30650571..34494528 [GRCh37] Chr20:30114232..33957942 [NCBI36] Chr20:20q11.21-11.23	pathogenic
NM_080675.4(SUN5):c.381del (p.Val128fs)	deletion	Spermatogenic failure 16 [RCV000258580]\|not provided [RCV001386508]	Chr20:32997647 [GRCh38] Chr20:31585453 [GRCh37] Chr20:20q11.21	pathogenic\|likely pathogenic
NM_080675.4(SUN5):c.824C>T (p.Thr275Met)	single nucleotide variant	Spermatogenic failure 16 [RCV000258589]	Chr20:32985809 [GRCh38] Chr20:31573615 [GRCh37] Chr20:20q11.21	pathogenic
NM_080675.4(SUN5):c.1066C>T (p.Arg356Cys)	single nucleotide variant	Spermatogenic failure 16 [RCV000258695]\|not provided [RCV001172141]	Chr20:32983868 [GRCh38] Chr20:31571674 [GRCh37] Chr20:20q11.21	pathogenic\|likely pathogenic
NM_080675.4(SUN5):c.851C>G (p.Ser284Ter)	single nucleotide variant	Spermatogenic failure 16 [RCV000258508]	Chr20:32985782 [GRCh38] Chr20:31573588 [GRCh37] Chr20:20q11.21	pathogenic
NM_080675.4(SUN5):c.781G>A (p.Val261Met)	single nucleotide variant	Spermatogenic failure 16 [RCV000258689]	Chr20:32985852 [GRCh38] Chr20:31573658 [GRCh37] Chr20:20q11.21	pathogenic
NM_080675.4(SUN5):c.485T>A (p.Met162Lys)	single nucleotide variant	Spermatogenic failure 16 [RCV000258762]	Chr20:32995668 [GRCh38] Chr20:31583474 [GRCh37] Chr20:20q11.21	pathogenic
GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	copy number gain	See cases [RCV000240436]	Chr20:17705775..31600738 [GRCh37] Chr20:20p12.1-q11.21	pathogenic
NM_080675.4(SUN5):c.419G>A (p.Ser140Asn)	single nucleotide variant	not specified [RCV004293611]	Chr20:32996330 [GRCh38] Chr20:31584136 [GRCh37] Chr20:20q11.21	uncertain significance
GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)x3	copy number gain	See cases [RCV000448977]	Chr20:24162775..31820857 [GRCh37] Chr20:20p11.21-q11.21	likely pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	copy number gain	See cases [RCV000510832]	Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33	pathogenic
NM_080675.4(SUN5):c.95G>A (p.Arg32Gln)	single nucleotide variant	not specified [RCV004286293]	Chr20:33002902 [GRCh38] Chr20:31590708 [GRCh37] Chr20:20q11.21	uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	copy number gain	See cases [RCV000512450]	Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33	pathogenic
Single allele	duplication	not provided [RCV000677978]	Chr20:17705775..31600738 [GRCh37] Chr20:20p12.1-q11.21	pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3	copy number gain	not provided [RCV000741059]	Chr20:63244..62961294 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3	copy number gain	not provided [RCV000741057]	Chr20:63244..62912463 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3	copy number gain	not provided [RCV000741058]	Chr20:63244..62948788 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	copy number gain	not provided [RCV000849735]	Chr20:29833608..35087952 [GRCh37] Chr20:20q11.21-11.23	pathogenic
NM_080675.4(SUN5):c.883del (p.Asp295fs)	deletion	Spermatogenic failure 16 [RCV001336874]	Chr20:32985750 [GRCh38] Chr20:31573556 [GRCh37] Chr20:20q11.21	pathogenic
NM_080675.4(SUN5):c.88C>T (p.Arg30Ter)	single nucleotide variant	Spermatogenic failure 16 [RCV001336875]	Chr20:33002909 [GRCh38] Chr20:31590715 [GRCh37] Chr20:20q11.21	pathogenic
NM_080675.4(SUN5):c.211+1_211+2dup	microsatellite	Spermatogenic failure 16 [RCV001783832]	Chr20:33002584..33002585 [GRCh38] Chr20:31590390..31590391 [GRCh37] Chr20:20q11.21	pathogenic\|likely pathogenic
NM_080675.4(SUN5):c.984+8C>T	single nucleotide variant	not provided [RCV001727197]	Chr20:32985091 [GRCh38] Chr20:31572897 [GRCh37] Chr20:20q11.21	uncertain significance
GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)	copy number gain	not specified [RCV002052707]	Chr20:24162775..31820857 [GRCh37] Chr20:20p11.21-q11.21	likely pathogenic
GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	copy number gain	not provided [RCV001829151]	Chr20:18665879..33903216 [GRCh37] Chr20:20p11.23-q11.22	likely pathogenic
GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550)	copy number gain	not specified [RCV002052709]	Chr20:25442597..33761550 [GRCh37] Chr20:20p11.21-q11.22	pathogenic
NC_000020.10:g.(?_31189994)_(34287210_?)del	deletion	not provided [RCV001956104]	Chr20:31189994..34287210 [GRCh37] Chr20:20q11.21-11.22	pathogenic
GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	copy number gain	not provided [RCV002474532]	Chr20:29833535..34815537 [GRCh37] Chr20:20q11.21-11.23	likely pathogenic
NM_080675.4(SUN5):c.338T>C (p.Phe113Ser)	single nucleotide variant	not specified [RCV004149377]	Chr20:33000076 [GRCh38] Chr20:31587882 [GRCh37] Chr20:20q11.21	uncertain significance
GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	copy number gain	not provided [RCV002475651]	Chr20:29652122..35603726 [GRCh37] Chr20:20q11.21-11.23	likely pathogenic
NM_080675.4(SUN5):c.552A>C (p.Lys184Asn)	single nucleotide variant	not specified [RCV004136294]	Chr20:32989681 [GRCh38] Chr20:31577487 [GRCh37] Chr20:20q11.21	uncertain significance
NM_080675.4(SUN5):c.844A>T (p.Thr282Ser)	single nucleotide variant	not specified [RCV004137904]	Chr20:32985789 [GRCh38] Chr20:31573595 [GRCh37] Chr20:20q11.21	uncertain significance
NM_080675.4(SUN5):c.377T>C (p.Met126Thr)	single nucleotide variant	not specified [RCV004217273]	Chr20:32997651 [GRCh38] Chr20:31585457 [GRCh37] Chr20:20q11.21	uncertain significance
NM_080675.4(SUN5):c.89G>A (p.Arg30Gln)	single nucleotide variant	not specified [RCV004241456]	Chr20:33002908 [GRCh38] Chr20:31590714 [GRCh37] Chr20:20q11.21	uncertain significance
NM_080675.4(SUN5):c.674A>G (p.Tyr225Cys)	single nucleotide variant	not specified [RCV004109455]	Chr20:32987715 [GRCh38] Chr20:31575521 [GRCh37] Chr20:20q11.21	uncertain significance
NM_080675.4(SUN5):c.543G>T (p.Met181Ile)	single nucleotide variant	not specified [RCV004132101]	Chr20:32989690 [GRCh38] Chr20:31577496 [GRCh37] Chr20:20q11.21	uncertain significance
NM_080675.4(SUN5):c.356C>G (p.Ser119Cys)	single nucleotide variant	not specified [RCV004134726]	Chr20:32997672 [GRCh38] Chr20:31585478 [GRCh37] Chr20:20q11.21	uncertain significance
NM_080675.4(SUN5):c.1106A>C (p.Gln369Pro)	single nucleotide variant	not specified [RCV004165749]	Chr20:32983828 [GRCh38] Chr20:31571634 [GRCh37] Chr20:20q11.21	uncertain significance
NM_080675.4(SUN5):c.251C>T (p.Ala84Val)	single nucleotide variant	not specified [RCV004175533]	Chr20:33001239 [GRCh38] Chr20:31589045 [GRCh37] Chr20:20q11.21	uncertain significance
NM_080675.4(SUN5):c.618C>T (p.Ala206=)	single nucleotide variant	not provided [RCV003223093]	Chr20:32987771 [GRCh38] Chr20:31575577 [GRCh37] Chr20:20q11.21	uncertain significance
NM_080675.4(SUN5):c.272C>T (p.Thr91Met)	single nucleotide variant	not specified [RCV004334686]	Chr20:33001218 [GRCh38] Chr20:31589024 [GRCh37] Chr20:20q11.21	uncertain significance
NM_080675.4(SUN5):c.1075G>C (p.Val359Leu)	single nucleotide variant	not specified [RCV004344867]	Chr20:32983859 [GRCh38] Chr20:31571665 [GRCh37] Chr20:20q11.21	uncertain significance
GRCh37/hg19 20q11.21(chr20:29917837-31886619)x3	copy number gain	not specified [RCV003986134]	Chr20:29917837..31886619 [GRCh37] Chr20:20q11.21	uncertain significance
NM_080675.4(SUN5):c.1068C>T (p.Arg356=)	single nucleotide variant	SUN5-related disorder [RCV003897351]	Chr20:32983866 [GRCh38] Chr20:31571672 [GRCh37] Chr20:20q11.21	likely benign
NM_080675.4(SUN5):c.202G>A (p.Gly68Arg)	single nucleotide variant	not specified [RCV004461070]	Chr20:33002596 [GRCh38] Chr20:31590402 [GRCh37] Chr20:20q11.21	uncertain significance
NM_080675.4(SUN5):c.378G>C (p.Met126Ile)	single nucleotide variant	not specified [RCV004461071]	Chr20:32997650 [GRCh38] Chr20:31585456 [GRCh37] Chr20:20q11.21	uncertain significance
NM_080675.4(SUN5):c.212-10T>C	single nucleotide variant	SUN5-related disorder [RCV003924072]	Chr20:33001288 [GRCh38] Chr20:31589094 [GRCh37] Chr20:20q11.21	likely benign
NM_080675.4(SUN5):c.820C>T (p.Leu274Phe)	single nucleotide variant	not specified [RCV004668368]	Chr20:32985813 [GRCh38] Chr20:31573619 [GRCh37] Chr20:20q11.21	uncertain significance
NC_000020.10:g.(?_31368130)_(34287210_?)del	deletion	Glutathione synthetase deficiency with 5-oxoprolinuria [RCV004579432]	Chr20:31368130..34287210 [GRCh37] Chr20:20q11.21-11.22	pathogenic
NC_000020.10:g.(?_31368130)_(31592146_?)del	deletion	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV004579434]	Chr20:31368130..31592146 [GRCh37] Chr20:20q11.21	pathogenic
NC_000020.10:g.(?_31571600)_(33001705_?)del	deletion	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV004579470]	Chr20:31571600..33001705 [GRCh37] Chr20:20q11.21-11.22	pathogenic
NM_080675.4(SUN5):c.1117A>C (p.Asn373His)	single nucleotide variant	not specified [RCV004668367]	Chr20:32983817 [GRCh38] Chr20:31571623 [GRCh37] Chr20:20q11.21	uncertain significance
NM_080675.4(SUN5):c.469G>C (p.Asp157His)	single nucleotide variant	not specified [RCV004668369]	Chr20:32995684 [GRCh38] Chr20:31583490 [GRCh37] Chr20:20q11.21	uncertain significance
NM_080675.4(SUN5):c.1088T>C (p.Val363Ala)	single nucleotide variant	not specified [RCV004869091]	Chr20:32983846 [GRCh38] Chr20:31571652 [GRCh37] Chr20:20q11.21	uncertain significance
NM_080675.4(SUN5):c.1120C>T (p.Pro374Ser)	single nucleotide variant	not specified [RCV004869090]	Chr20:32983814 [GRCh38] Chr20:31571620 [GRCh37] Chr20:20q11.21	uncertain significance
NM_080675.4(SUN5):c.1018G>C (p.Val340Leu)	single nucleotide variant	not specified [RCV004869093]	Chr20:32983916 [GRCh38] Chr20:31571722 [GRCh37] Chr20:20q11.21	uncertain significance
NM_080675.4(SUN5):c.701A>C (p.Tyr234Ser)	single nucleotide variant	not specified [RCV004869096]	Chr20:32987688 [GRCh38] Chr20:31575494 [GRCh37] Chr20:20q11.21	uncertain significance
NM_080675.4(SUN5):c.160C>T (p.Arg54Cys)	single nucleotide variant	not specified [RCV004869089]	Chr20:33002638 [GRCh38] Chr20:31590444 [GRCh37] Chr20:20q11.21	uncertain significance
NM_080675.4(SUN5):c.1090G>T (p.Ala364Ser)	single nucleotide variant	not specified [RCV004869092]	Chr20:32983844 [GRCh38] Chr20:31571650 [GRCh37] Chr20:20q11.21	uncertain significance
NM_080675.4(SUN5):c.154C>T (p.Pro52Ser)	single nucleotide variant	not specified [RCV004869094]	Chr20:33002644 [GRCh38] Chr20:31590450 [GRCh37] Chr20:20q11.21	uncertain significance
NM_080675.4(SUN5):c.1064A>G (p.Tyr355Cys)	single nucleotide variant	not specified [RCV004869095]	Chr20:32983870 [GRCh38] Chr20:31571676 [GRCh37] Chr20:20q11.21	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	761
Count of miRNA genes:	363
Interacting mature miRNAs:	392
Transcripts:	ENST00000356173, ENST00000375519, ENST00000375523, ENST00000420875
Prediction methods:	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.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597114910	GWAS1210984_H	DNA methylation QTL GWAS1210984 (human)		6e-10	DNA methylation		20	32988840	32988841	Human

Z94710

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	20	31,581,697 - 31,581,838	UniSTS	GRCh37
Build 36	20	31,045,358 - 31,045,499	RGD	NCBI36
Celera	20	28,335,573 - 28,335,714	RGD
Cytogenetic Map	20	q11.21	UniSTS
HuRef	20	28,369,048 - 28,369,189	UniSTS

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

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	nervous system	renal system	reproductive system	respiratory system	sensory system
150	290	377	289	622	234	300	58	217	29	267	818	793	500	82	571	227	29


RefSeq Transcripts	NG_054760	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_080675	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011528573	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011528574	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011528575	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011528576	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054323015	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054323016	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054323017	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054323018	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF401350	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK097733	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL121756	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL139826	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC026118	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC029528	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471077	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068258	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GQ891500	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC007294	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC044585	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000356173 ⟹ ENSP00000348496

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	32,983,775 - 33,004,433 (-)	Ensembl

Ensembl Acc Id:

ENST00000375519 ⟹ ENSP00000364669

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	32,999,853 - 33,004,359 (-)	Ensembl

Ensembl Acc Id:

ENST00000375523 ⟹ ENSP00000364673

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	32,983,773 - 33,004,407 (-)	Ensembl

Ensembl Acc Id:

ENST00000420875 ⟹ ENSP00000400089

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	32,999,853 - 33,004,307 (-)	Ensembl

RefSeq Acc Id:

NM_080675 ⟹ NP_542406

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	32,983,775 - 33,004,433 (-)	NCBI
GRCh37	20	31,571,579 - 31,592,239 (-)	NCBI
Build 36	20	31,035,242 - 31,055,900 (-)	NCBI Archive
Celera	20	28,325,457 - 28,346,116 (-)	RGD
HuRef	20	28,358,932 - 28,379,615 (-)	ENTREZGENE
CHM1_1	20	31,471,124 - 31,492,379 (-)	NCBI
T2T-CHM13v2.0	20	34,710,456 - 34,731,124 (-)	NCBI

Sequence:

show sequence

ACTTTTCAGGGGACATTCAGAGGCATCAGCCCCTTCCTCCTCACCAGCTCCCAGAGTTCCCATCTCCATCCCCAATCCTAAAGAAGGAAATCGATGCCACGGTCCTCAAGGAGCCCTGGGGACCCAGG
CGCCCTACTCGAAGATGTGGCCCACAATCCCAGACCCCGGAGGATTGCCCAGCGAGGCCGGAACACCAGCAGGATGGCAGAGGACACCTCCCCAAACATGAATGACAACATCCTGTTGCCTGTCCGCA
ACAATGACCAAGCCCTAGGCCTGACTCAGTGCATGCTGGGATGTGTGTCCTGGTTCACCTGTTTTGCCTGCTCCCTGAGAACTCAGGCCCAGCAGGTTCTGTTTAACACGTGCAGATGCAAGCTGCTG
TGCCAGAAGCTCATGGAGAAGACAGGCATTCTGCTCCTCTGTGCTTTCGGATTCTGGATGTTTTCTATTCACTTACCATCGAAAATGAAAGTCTGGCAGGATGACAGCATAAATGGTCCACTGCAGAG
CTTGAGGTTGTACCAGGAGAAGGTGCGACATCACAGTGGGGAAATCCAGGACCTCCGAGGTAGCATGAACCAGCTCATTGCCAAGCTCCAGGAGATGGAAGCCATGTCCGATGAGCAAAAAATGGCCC
AGAAAATAATGAAGATGATACACGGAGATTACATCGAAAAGCCAGACTTTGCCCTGAAGTCTATAGGGGCCAGCATTGACTTTGAGCACACGTCAGTCACCTATAACCATGAGAAGGCCCACTCCTAC
TGGAACTGGATCCAGCTGTGGAACTACGCACAGCCCCCAGACGTGATCCTTGAGCCCAACGTGACACCTGGCAATTGCTGGGCCTTTGAGGGTGACCGCGGCCAGGTGACCATCCAATTGGCTCAGAA
GGTTTACCTGTCCAACCTCACGCTGCAGCACATCCCCAAGACCATCTCATTGTCAGGCAGCCTGGACACCGCCCCCAAGGACTTCGTCATCTATGGCATGGAGGGCTCCCCCAAGGAGGAGGTGTTCC
TGGGGGCATTTCAGTTTCAGCCAGAAAACATCATCCAGATGTTCCCACTCCAGAACCAGCCGGCCCGGGCTTTCAGTGCGGTCAAGGTGAAGATCTCAAGCAACTGGGGGAACCCAGGCTTCACTTGC
CTGTACCGCGTGCGAGTGCATGGCTCTGTGGCCCCGCCCAGAGAGCAGCCTCACCAGAACCCCTACCCTAAGAGAGATTAAAATTTATTCTTTACCCCCA

hide sequence

RefSeq Acc Id:

XM_011528573 ⟹ XP_011526875

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	32,983,775 - 33,004,433 (-)	NCBI

Sequence:

show sequence

CAGATTCCACTTGGCACTTTTCAGGGGACATTCAGAGGCATCAGCCCCTTCCTCCTCACCAGCTCCCAGAGTTCCCATCTCCATCCCCAATCCTAAAGAAGGAAATCGATGCCACGGTCCTCAAGGAG
CCCTGGGGACCCAGGCGCCCTACTCGAAGATGTGGCCCACAATCCCAGACCCCGGAGGATTGCCCAGCGAGGCCGGAACACCAGCAGGATGGCAGAGGACACCTCCCCAAACATGAATGACAACATCC
TGTTGCCTGTCCGCAACAATGACCAAGCCCTAGGCCTGACTCAGTGCATGCTGGGATGTGTGTTCTGGCTGCTGGTTTCACCCATCCATCCACCTGTTGAGTTCATCAGTTCTCCCAGACCTTATTTC
ATAGCCTGGTTCACCTGTTTTGCCTGCTCCCTGAGAACTCAGGCCCAGCAGGTTCTGTTTAACACGTGCAGATGCAAGCTGCTGTGCCAGAAGCTCATGGAGAAGACAGGCATTCTGCTCCTCTGTGC
TTTCGGATTCTGGATGTTTTCTATTCACTTACCATCGAAAATGAAAGTCTGGCAGGATGACAGCATAAATGGTCCACTGCAGAGCTTGAGGTTGTACCAGGAGAAGGTGCGACATCACAGTGGGGAAA
TCCAGGACCTCCGAGGTAGCATGAACCAGCTCATTGCCAAGCTCCAGGAGATGGAAGCCATGTCCGATGAGCAAAAAATGGCCCAGAAAATAATGAAGATGATACACGGAGATTACATCGAAAAGCCA
GACTTTGCCCTGAAGTCTATAGGGGCCAGCATTGACTTTGAGCACACGTCAGTCACCTATAACCATGAGAAGGCCCACTCCTACTGGAACTGGATCCAGCTGTGGAACTACGCACAGCCCCCAGACGT
GATCCTTGAGCCCAACGTGACACCTGGCAATTGCTGGGCCTTTGAGGGTGACCGCGGCCAGGTGACCATCCAATTGGCTCAGAAGGTTTACCTGTCCAACCTCACGCTGCAGCACATCCCCAAGACCA
TCTCATTGTCAGGCAGCCTGGACACCGCCCCCAAGGACTTCGTCATCTATGGCATGGAGGGCTCCCCCAAGGAGGAGGTGTTCCTGGGGGCATTTCAGTTTCAGCCAGAAAACATCATCCAGATGTTC
CCACTCCAGAACCAGCCGGCCCGGGCTTTCAGTGCGGTCAAGGTGAAGATCTCAAGCAACTGGGGGAACCCAGGCTTCACTTGCCTGTACCGCGTGCGAGTGCATGGCTCTGTGGCCCCGCCCAGAGA
GCAGCCTCACCAGAACCCCTACCCTAAGAGAGATTAAAATTTATTCTTTACCCCCAGA

hide sequence

RefSeq Acc Id:

XM_011528574 ⟹ XP_011526876

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	32,983,775 - 33,004,433 (-)	NCBI

Sequence:

show sequence

CAGATTCCACTTGGCACTTTTCAGGGGACATTCAGAGGCATCAGCCCCTTCCTCCTCACCAGCT
CCCAGAGTTCCCATCTCCATCCCCAATCCTAAAGAAGGAAATCGATGCCACGGTCCTCAAGGAGCCCTGGGGACCCAGGCGCCCTACTCGAAGATGTGGCCCACAATCCCAGACCCCGGAGGATTGCC
CAGCGAGGCCGGAACACCAGCAGGATGGCAGAGGACACCTCCCCAAACATGACCTGGTTCACCTGTTTTGCCTGCTCCCTGAGAACTCAGGCCCAGCAGGTTCTGTTTAACACGTGCAGATGCAAGCT
GCTGTGCCAGAAGCTCATGGAGAAGACAGGCATTCTGCTCCTCTGTGCTTTCGGATTCTGGATGTTTTCTATTCACTTACCATCGAAAATGAAAGTCTGGCAGGATGACAGCATAAATGGTCCACTGC
AGAGCTTGAGGTTGTACCAGGAGAAGGTGCGACATCACAGTGGGGAAATCCAGGACCTCCGAGGTAGCATGAACCAGCTCATTGCCAAGCTCCAGGAGATGGAAGCCATGTCCGATGAGCAAAAAATG
GCCCAGAAAATAATGAAGATGATACACGGAGATTACATCGAAAAGCCAGACTTTGCCCTGAAGTCTATAGGGGCCAGCATTGACTTTGAGCACACGTCAGTCACCTATAACCATGAGAAGGCCCACTC
CTACTGGAACTGGATCCAGCTGTGGAACTACGCACAGCCCCCAGACGTGATCCTTGAGCCCAACGTGACACCTGGCAATTGCTGGGCCTTTGAGGGTGACCGCGGCCAGGTGACCATCCAATTGGCTC
AGAAGGTTTACCTGTCCAACCTCACGCTGCAGCACATCCCCAAGACCATCTCATTGTCAGGCAGCCTGGACACCGCCCCCAAGGACTTCGTCATCTATGGCATGGAGGGCTCCCCCAAGGAGGAGGTG
TTCCTGGGGGCATTTCAGTTTCAGCCAGAAAACATCATCCAGATGTTCCCACTCCAGAACCAGCCGGCCCGGGCTTTCAGTGCGGTCAAGGTGAAGATCTCAAGCAACTGGGGGAACCCAGGCTTCAC
TTGCCTGTACCGCGTGCGAGTGCATGGCTCTGTGGCCCCGCCCAGAGAGCAGCCTCACCAGAACCCCTACCCTAAGAGAGATTAAAATTTATTCTTTACCCCCAGA

hide sequence

RefSeq Acc Id:

XM_011528575 ⟹ XP_011526877

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	32,983,775 - 33,002,875 (-)	NCBI

Sequence:

show sequence

CCTCCCCAAACATGAATGACAACATCCTGTTGCCTGTCCGCAACAATGACCAAGCCCTAGGCCTGACTCAGTGCATGCTGGGATGTGTGTATGCAAGCTGCTGTGCCAGAAGCTCATGGAGAAGACAG
GCATTCTGCTCCTCTGTGCTTTCGGATTCTGGATGTTTTCTATTCACTTACCATCGAAAATGAAAGTCTGGCAGGATGACAGCATAAATGGTCCACTGCAGAGCTTGAGGTTGTACCAGGAGAAGGTG
CGACATCACAGTGGGGAAATCCAGGACCTCCGAGGTAGCATGAACCAGCTCATTGCCAAGCTCCAGGAGATGGAAGCCATGTCCGATGAGCAAAAAATGGCCCAGAAAATAATGAAGATGATACACGG
AGATTACATCGAAAAGCCAGACTTTGCCCTGAAGTCTATAGGGGCCAGCATTGACTTTGAGCACACGTCAGTCACCTATAACCATGAGAAGGCCCACTCCTACTGGAACTGGATCCAGCTGTGGAACT
ACGCACAGCCCCCAGACGTGATCCTTGAGCCCAACGTGACACCTGGCAATTGCTGGGCCTTTGAGGGTGACCGCGGCCAGGTGACCATCCAATTGGCTCAGAAGGTTTACCTGTCCAACCTCACGCTG
CAGCACATCCCCAAGACCATCTCATTGTCAGGCAGCCTGGACACCGCCCCCAAGGACTTCGTCATCTATGGCATGGAGGGCTCCCCCAAGGAGGAGGTGTTCCTGGGGGCATTTCAGTTTCAGCCAGA
AAACATCATCCAGATGTTCCCACTCCAGAACCAGCCGGCCCGGGCTTTCAGTGCGGTCAAGGTGAAGATCTCAAGCAACTGGGGGAACCCAGGCTTCACTTGCCTGTACCGCGTGCGAGTGCATGGCT
CTGTGGCCCCGCCCAGAGAGCAGCCTCACCAGAACCCCTACCCTAAGAGAGATTAAAATTTATTCTTTACCCCCAGA

hide sequence

RefSeq Acc Id:

XM_011528576 ⟹ XP_011526878

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	32,989,156 - 33,004,433 (-)	NCBI

Sequence:

show sequence

GCAGATTCCACTTGGCACTTTTCAGGGGACATTCAGAGGCATCAGCCCCTTCCTCCTCACCAGCTCCCAGAGTTCCCATCTCCATCCCCAATCCTAAAGAAGGAAATCGATGCCACGGTCCTCAAGGA
GCCCTGGGGACCCAGGCGCCCTACTCGAAGATGTGGCCCACAATCCCAGACCCCGGAGGATTGCCCAGCGAGGCCGGAACACCAGCAGGATGGCAGAGGACACCTCCCCAAACATGAATGACAACATC
CTGTTGCCTGTCCGCAACAATGACCAAGCCCTAGGCCTGACTCAGTGCATGCTGGGATGTGTGTTCTGGCTGCTGGTTTCACCCATCCATCCACCTGTTGAGTTCATCAGTTCTCCCAGACCTTATTT
CATAGCCTGGTTCACCTGTTTTGCCTGCTCCCTGAGAACTCAGGCCCAGCAGGTTCTGTTTAACACGTGCAGATGCAAGCTGCTGTGCCAGAAGCTCATGGAGAAGACAGGCATTCTGCTCCTCTGTG
CTTTCGGATTCTGGATGTTTTCTATTCACTTACCATCGAAAATGAAAGTCTGGCAGGATGACAGCATAAATGGTCCACTGCAGAGCTTGAGGTTGTACCAGGAGAAGGTGCGACATCACAGTGGGGAA
ATCCAGGACCTCCGAGGTAGCATGAACCAGCTCATTGCCAAGCTCCAGGAGATGGAAGCCATGTCCGATGAGCAAAAAATGGCCCAGAAAATAATGAAGATGATACACGGAGATTACATCGAAAAGCC
AGACTTTGCCCTGAAGTCTATAGGTCAGCAAGACAGAGCCATCTCCAACCCGCAGTCAAGAATCAGTGCTTCGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGG
CAGATCACGAGGT

hide sequence

RefSeq Acc Id:

XM_054323015 ⟹ XP_054178990

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	20	34,710,456 - 34,731,124 (-)	NCBI

RefSeq Acc Id:

XM_054323016 ⟹ XP_054178991

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	20	34,710,456 - 34,731,124 (-)	NCBI

RefSeq Acc Id:

XM_054323017 ⟹ XP_054178992

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	20	34,710,456 - 34,729,566 (-)	NCBI

RefSeq Acc Id:

XM_054323018 ⟹ XP_054178993

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	20	34,715,837 - 34,731,124 (-)	NCBI


Protein RefSeqs	NP_542406	(Get FASTA)	NCBI Sequence Viewer
	XP_011526875	(Get FASTA)	NCBI Sequence Viewer
	XP_011526876	(Get FASTA)	NCBI Sequence Viewer
	XP_011526877	(Get FASTA)	NCBI Sequence Viewer
	XP_011526878	(Get FASTA)	NCBI Sequence Viewer
	XP_054178990	(Get FASTA)	NCBI Sequence Viewer
	XP_054178991	(Get FASTA)	NCBI Sequence Viewer
	XP_054178992	(Get FASTA)	NCBI Sequence Viewer
	XP_054178993	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH26118	(Get FASTA)	NCBI Sequence Viewer
	AAH29528	(Get FASTA)	NCBI Sequence Viewer
	AAM90665	(Get FASTA)	NCBI Sequence Viewer
	ADO22362	(Get FASTA)	NCBI Sequence Viewer
	CBH19452	(Get FASTA)	NCBI Sequence Viewer
	CBH30622	(Get FASTA)	NCBI Sequence Viewer
	EAW76342	(Get FASTA)	NCBI Sequence Viewer
	EAW76343	(Get FASTA)	NCBI Sequence Viewer
	EAW76344	(Get FASTA)	NCBI Sequence Viewer
	EAW76345	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000348496
	ENSP00000348496.3
	ENSP00000364673
GenBank Protein	Q8TC36	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_542406 ⟸ NM_080675

- UniProtKB:

A6NJ82 (UniProtKB/Swiss-Prot), Q5T9R0 (UniProtKB/Swiss-Prot), Q8TC36 (UniProtKB/Swiss-Prot), A0A384MDU5 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MPRSSRSPGDPGALLEDVAHNPRPRRIAQRGRNTSRMAEDTSPNMNDNILLPVRNNDQALGLTQCMLGCVSWFTCFACSLRTQAQQVLFNTCRCKLLCQKLMEKTGILLLCAFGFWMFSIHLPSKMKV
WQDDSINGPLQSLRLYQEKVRHHSGEIQDLRGSMNQLIAKLQEMEAMSDEQKMAQKIMKMIHGDYIEKPDFALKSIGASIDFEHTSVTYNHEKAHSYWNWIQLWNYAQPPDVILEPNVTPGNCWAFEG
DRGQVTIQLAQKVYLSNLTLQHIPKTISLSGSLDTAPKDFVIYGMEGSPKEEVFLGAFQFQPENIIQMFPLQNQPARAFSAVKVKISSNWGNPGFTCLYRVRVHGSVAPPREQPHQNPYPKRD

hide sequence

RefSeq Acc Id:	XP_011526876 ⟸ XM_011528574
- Peptide Label:	isoform X2
- UniProtKB:	A9Z1W8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MPRSSRSPGDPGALLEDVAHNPRPRRIAQRGRNTSRMAEDTSPNMTWFTCFACSLRTQAQQVLFNTCRCKLLCQKLMEKTGILLLCAFGFWMFSIHLPSKMKVWQDDSINGPLQSLRLYQEKVRHHSG EIQDLRGSMNQLIAKLQEMEAMSDEQKMAQKIMKMIHGDYIEKPDFALKSIGASIDFEHTSVTYNHEKAHSYWNWIQLWNYAQPPDVILEPNVTPGNCWAFEGDRGQVTIQLAQKVYLSNLTLQHIPK TISLSGSLDTAPKDFVIYGMEGSPKEEVFLGAFQFQPENIIQMFPLQNQPARAFSAVKVKISSNWGNPGFTCLYRVRVHGSVAPPREQPHQNPYPKRD hide sequence

RefSeq Acc Id:

XP_011526875 ⟸ XM_011528573

- Peptide Label:

isoform X1

- Sequence:

show sequence

MPRSSRSPGDPGALLEDVAHNPRPRRIAQRGRNTSRMAEDTSPNMNDNILLPVRNNDQALGLTQCMLGCVFWLLVSPIHPPVEFISSPRPYFIAWFTCFACSLRTQAQQVLFNTCRCKLLCQKLMEKT
GILLLCAFGFWMFSIHLPSKMKVWQDDSINGPLQSLRLYQEKVRHHSGEIQDLRGSMNQLIAKLQEMEAMSDEQKMAQKIMKMIHGDYIEKPDFALKSIGASIDFEHTSVTYNHEKAHSYWNWIQLWN
YAQPPDVILEPNVTPGNCWAFEGDRGQVTIQLAQKVYLSNLTLQHIPKTISLSGSLDTAPKDFVIYGMEGSPKEEVFLGAFQFQPENIIQMFPLQNQPARAFSAVKVKISSNWGNPGFTCLYRVRVHG
SVAPPREQPHQNPYPKRD

hide sequence

RefSeq Acc Id:

XP_011526877 ⟸ XM_011528575

- Peptide Label:

isoform X3

- Sequence:

show sequence

MCVCKLLCQKLMEKTGILLLCAFGFWMFSIHLPSKMKVWQDDSINGPLQSLRLYQEKVRHHSGE
IQDLRGSMNQLIAKLQEMEAMSDEQKMAQKIMKMIHGDYIEKPDFALKSIGASIDFEHTSVTYNHEKAHSYWNWIQLWNYAQPPDVILEPNVTPGNCWAFEGDRGQVTIQLAQKVYLSNLTLQHIPKT
ISLSGSLDTAPKDFVIYGMEGSPKEEVFLGAFQFQPENIIQMFPLQNQPARAFSAVKVKISSNWGNPGFTCLYRVRVHGSVAPPREQPHQNPYPKRD

hide sequence

RefSeq Acc Id:

XP_011526878 ⟸ XM_011528576

- Peptide Label:

isoform X4

- Sequence:

show sequence

MPRSSRSPGDPGALLEDVAHNPRPRRIAQRGRNTSRMAEDTSPNMNDNILLPVRNNDQALGLTQCMLGCVFWLLVSPIHPPVEFISSPRPYFIAWFTCFACSLRTQAQQVLFNTCRCKLLCQKLMEKT
GILLLCAFGFWMFSIHLPSKMKVWQDDSINGPLQSLRLYQEKVRHHSGEIQDLRGSMNQLIAKLQEMEAMSDEQKMAQKIMKMIHGDYIEKPDFALKSIGQQDRAISNPQSRISASARCGGSRL

hide sequence

Protein Domains

SUN

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8TC36-F1-model_v2	AlphaFold	Q8TC36	1-379	view protein structure

RGD ID:

13206673

Promoter ID:

EPDNEW_H26917

Type:

multiple initiation site

Name:

SUN5_1

Description:

Sad1 and UNC84 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	20	33,004,433 - 33,004,493	EPDNEW

Database	Acc Id	Source(s)
COSMIC	SUN5	COSMIC
Ensembl Genes	ENSG00000167098	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000356173	ENTREZGENE
	ENST00000356173.8	UniProtKB/Swiss-Prot
	ENST00000375523	ENTREZGENE
Gene3D-CATH	Galactose-binding domain-like	UniProtKB/Swiss-Prot
GTEx	ENSG00000167098	GTEx
HGNC ID	HGNC:16252	ENTREZGENE
Human Proteome Map	SUN5	Human Proteome Map
InterPro	SUN1-5	UniProtKB/Swiss-Prot
	SUN_dom	UniProtKB/Swiss-Prot
KEGG Report	hsa:140732	UniProtKB/Swiss-Prot
NCBI Gene	140732	ENTREZGENE
OMIM	613942	OMIM
PANTHER	PTHR12911	UniProtKB/Swiss-Prot
	PTHR12911:SF44	UniProtKB/Swiss-Prot
Pfam	Sad1_UNC	UniProtKB/Swiss-Prot
PharmGKB	PA38095	PharmGKB
PROSITE	SUN	UniProtKB/Swiss-Prot
UniProt	A0A384MDU5	ENTREZGENE, UniProtKB/TrEMBL
	A6NJ82	ENTREZGENE
	A9Z1W8	ENTREZGENE, UniProtKB/TrEMBL
	Q5T9R0	ENTREZGENE
	Q5TDX8_HUMAN	UniProtKB/TrEMBL
	Q5TDX9_HUMAN	UniProtKB/TrEMBL
	Q8TC36	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	A6NJ82	UniProtKB/Swiss-Prot
	Q5T9R0	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2011-07-27	SUN5	Sad1 and UNC84 domain containing 5	SPAG4L	sperm associated antigen 4-like	Symbol and/or name change	5135510	APPROVED

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


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


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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