SIAH2 (siah E3 ubiquitin protein ligase 2)

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Gene: SIAH2 (siah E3 ubiquitin protein ligase 2) Homo sapiens

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Symbol:

SIAH2

Name:

siah E3 ubiquitin protein ligase 2

RGD ID:

734303

HGNC Page

HGNC:10858

Description:

Predicted to enable ubiquitin conjugating enzyme binding activity and ubiquitin protein ligase activity. Involved in several processes, including canonical Wnt signaling pathway; negative regulation of apoptotic process; and ubiquitin-dependent protein catabolic process. Acts upstream of or within negative regulation of canonical Wnt signaling pathway. Located in cytosol and nucleoplasm.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

E3 ubiquitin-protein ligase SIAH2; hSiah2; RING-type E3 ubiquitin transferase SIAH2; seven in absentia homolog 2; siah-2

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	3	150,741,125 - 150,763,169 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	3	150,741,125 - 150,763,477 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	3	150,458,912 - 150,480,956 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	3	151,941,600 - 151,963,953 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	3	151,941,608 - 151,963,961	NCBI
Celera	3	148,871,981 - 148,894,332 (-)	NCBI		Celera
Cytogenetic Map	3	q25.1	NCBI
HuRef	3	147,832,386 - 147,876,859 (-)	NCBI		HuRef
CHM1_1	3	150,421,938 - 150,444,291 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	3	153,492,334 - 153,514,363 (-)	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

glycogen storage disease XV (IAGP)

lens disease (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(1->4)-beta-D-glucan (ISO)

1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane (EXP)

1,2,4-trimethylbenzene (ISO)

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP,ISO)

2,3',4,4',5-Pentachlorobiphenyl (ISO)

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

2,6-dinitrotoluene (ISO)

acetylsalicylic acid (EXP)

acrylamide (EXP)

afimoxifene (EXP)

aflatoxin B1 (EXP,ISO)

all-trans-retinoic acid (EXP)

ammonium chloride (ISO)

arsane (EXP)

arsenic atom (EXP)

benzo[a]pyrene (ISO)

benzo[a]pyrene diol epoxide I (EXP)

bexarotene (EXP)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (EXP,ISO)

Butylparaben (EXP)

cadmium dichloride (EXP,ISO)

caffeine (EXP)

CGP 52608 (EXP)

chloroacetaldehyde (EXP)

cidofovir anhydrous (EXP)

ciguatoxin CTX1B (ISO)

cisplatin (EXP)

clodronic acid (EXP)

clomiphene (EXP)

cobalt dichloride (ISO)

copper(II) sulfate (EXP)

cyclosporin A (EXP)

diazinon (ISO)

dibenz[a,h]anthracene (ISO)

Dibutyl phosphate (EXP)

diethylstilbestrol (EXP,ISO)

dioxygen (EXP)

dorsomorphin (EXP)

doxorubicin (EXP)

endosulfan (ISO)

erlotinib hydrochloride (EXP)

estrone (EXP)

ethanol (ISO)

ethyl methanesulfonate (EXP)

fenofibrate (ISO)

folic acid (ISO)

fulvestrant (EXP)

furan (ISO)

genistein (EXP)

gentamycin (ISO)

hexestrol (EXP)

ICI-164384 (EXP)

ifosfamide (EXP)

Indeno[1,2,3-cd]pyrene (EXP)

lead(0) (EXP)

leflunomide (EXP)

manganese(II) chloride (ISO)

mestranol (EXP)

metformin (ISO)

methamphetamine (ISO)

methoxychlor (ISO)

methyl methanesulfonate (EXP)

methylparaben (EXP)

N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal (ISO)

N-methyl-4-phenylpyridinium (ISO)

naphthalenes (ISO)

paracetamol (ISO)

perfluorononanoic acid (EXP)

perfluorooctane-1-sulfonic acid (ISO)

perfluorooctanoic acid (EXP)

phytoestrogen (EXP)

picene (EXP)

pirinixic acid (ISO)

quercetin (EXP)

raloxifene (EXP)

resveratrol (EXP)

S-butyl-DL-homocysteine (S,R)-sulfoximine (ISO)

SB 431542 (EXP)

silicon dioxide (ISO)

Soman (ISO)

sunitinib (EXP)

tamoxifen (ISO)

temozolomide (EXP)

tetrachloromethane (ISO)

thioacetamide (ISO)

thiram (EXP)

titanium dioxide (ISO)

Tributyltin oxide (EXP)

trichloroethene (ISO)

troglitazone (ISO)

trovafloxacin (ISO)

tunicamycin (ISO)

valproic acid (EXP,ISO)

vincristine (EXP)

zinc atom (EXP)

zinc(0) (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

amyloid fibril formation (TAS)

apoptotic process (IEA)

canonical Wnt signaling pathway (IMP)

negative regulation of apoptotic process (IMP)

negative regulation of canonical Wnt signaling pathway (IGI)

negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (IMP)

negative regulation of DNA-templated transcription (IEA)

negative regulation of extrinsic apoptotic signaling pathway (IMP)

proteasome-mediated ubiquitin-dependent protein catabolic process (IBA)

protein ubiquitination (IEA)

regulation of circadian rhythm (IEA,IMP)

regulation of protein ubiquitination (IEA,ISO)

rhythmic process (IEA)

small GTPase-mediated signal transduction (TAS)

ubiquitin-dependent protein catabolic process (IEA,IMP,ISS,TAS)

Cellular Component

cytoplasm (IBA,IEA,TAS)

cytosol (IDA,TAS)

early endosome (IEA,ISO)

intracellular membrane-bounded organelle (IDA)

neuronal cell body (IEA,ISO)

nucleoplasm (IDA)

nucleus (IEA)

Molecular Function

metal ion binding (IEA)

protein binding (IPI,ISO)

transcription corepressor activity (TAS)

transferase activity (IEA)

ubiquitin conjugating enzyme binding (IBA,IEA,ISO)

ubiquitin protein ligase activity (IBA,IEA,ISS)

ubiquitin-protein transferase activity (IEA,ISS,TAS)

zinc ion binding (IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

estrogen signaling pathway (TAS)

nuclear factor, erythroid 2 like 2 signaling pathway (TAS)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Coregulators in nuclear estrogen receptor action: from concept to therapeutic targeting.	Hall JM and McDonnell DP, Mol Interv. 2005 Dec;5(6):343-57.
3.	The Nrf2 regulatory network provides an interface between redox and intermediary metabolism.	Hayes JD and Dinkova-Kostova AT, Trends Biochem Sci. 2014 Apr;39(4):199-218. doi: 10.1016/j.tibs.2014.02.002. Epub 2014 Mar 16.
4.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:8125298	PMID:8889548	PMID:9334332	PMID:9403064	PMID:9858595	PMID:10207103	PMID:10681424	PMID:10704288	PMID:11389839	PMID:11483518	PMID:11786535	PMID:12136098
PMID:12411493	PMID:12477932	PMID:12810624	PMID:12952940	PMID:14645235	PMID:14654780	PMID:14702039	PMID:15064394	PMID:15210114	PMID:15221006	PMID:15231748	PMID:15466852
PMID:15489334	PMID:16141343	PMID:16174773	PMID:16713569	PMID:16888801	PMID:16899216	PMID:16958618	PMID:17003045	PMID:17533377	PMID:17683050	PMID:17716627	PMID:17998205
PMID:18070888	PMID:18323779	PMID:18629630	PMID:18850011	PMID:19001609	PMID:19028597	PMID:19043406	PMID:19224863	PMID:19240029	PMID:19730683	PMID:19744480	PMID:20691163
PMID:21037926	PMID:21306611	PMID:21586138	PMID:21659512	PMID:21873635	PMID:21988832	PMID:22037423	PMID:22037769	PMID:22064479	PMID:22065755	PMID:22128162	PMID:22323152
PMID:22350919	PMID:22878263	PMID:22951594	PMID:23044042	PMID:23208506	PMID:23500468	PMID:23518348	PMID:23644657	PMID:23645672	PMID:23695783	PMID:23840749	PMID:23891150
PMID:24222137	PMID:24244489	PMID:24833526	PMID:25202994	PMID:25313037	PMID:25438054	PMID:25528765	PMID:25544563	PMID:25963833	PMID:25997740	PMID:26160177	PMID:26186194
PMID:26392558	PMID:26512788	PMID:26580787	PMID:26654769	PMID:26751770	PMID:26859780	PMID:27030211	PMID:27048589	PMID:27058417	PMID:27459914	PMID:27485016	PMID:27616748
PMID:27776223	PMID:28365387	PMID:28514442	PMID:28515325	PMID:28546513	PMID:28549433	PMID:28991234	PMID:29400343	PMID:29555935	PMID:29688807	PMID:30063986	PMID:30771432
PMID:30833558	PMID:30945288	PMID:31825833	PMID:31911617	PMID:32042051	PMID:32206096	PMID:33082319	PMID:33536006	PMID:33536335	PMID:33937036	PMID:33961781	PMID:34687788
PMID:35154166	PMID:35524561	PMID:35748872	PMID:35913115	PMID:36155803	PMID:36307912	PMID:36780970	PMID:37078793	PMID:37203337	PMID:38842200

Genomics

Comparative Map Data

SIAH2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	3	150,741,125 - 150,763,169 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	3	150,741,125 - 150,763,477 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	3	150,458,912 - 150,480,956 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	3	151,941,600 - 151,963,953 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	3	151,941,608 - 151,963,961	NCBI
Celera	3	148,871,981 - 148,894,332 (-)	NCBI		Celera
Cytogenetic Map	3	q25.1	NCBI
HuRef	3	147,832,386 - 147,876,859 (-)	NCBI		HuRef
CHM1_1	3	150,421,938 - 150,444,291 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	3	153,492,334 - 153,514,363 (-)	NCBI		T2T-CHM13v2.0

Siah2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	3	58,582,370 - 58,599,857 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	3	58,582,359 - 58,599,821 (-)	Ensembl		GRCm39 Ensembl
GRCm38	3	58,674,949 - 58,692,439 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	3	58,674,938 - 58,692,400 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	3	58,478,871 - 58,496,310 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	3	58,762,878 - 58,780,317 (-)	NCBI		MGSCv36	mm8
Celera	3	58,369,358 - 58,387,000 (-)	NCBI		Celera
Cytogenetic Map	3	D	NCBI
cM Map	3	28.68	NCBI

Siah2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	2	145,063,847 - 145,081,675 (-)	NCBI		GRCr8
mRatBN7.2	2	142,913,924 - 142,931,752 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	2	142,914,003 - 142,931,950 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	2	149,552,206 - 149,570,039 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	2	147,658,831 - 147,676,654 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	2	142,291,261 - 142,309,088 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	2	148,874,151 - 148,891,900 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	2	148,874,151 - 148,891,900 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	2	168,292,053 - 168,309,802 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	2	148,022,641 - 148,040,390 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	2	147,972,605 - 147,990,353 (-)	NCBI
Celera	2	137,342,181 - 137,359,932 (-)	NCBI		Celera
Cytogenetic Map	2	q26	NCBI

Siah2
(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_004955448	1,907,401 - 1,926,445 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955448	1,907,478 - 1,926,445 (-)	NCBI	ChiLan1.0	ChiLan1.0

SIAH2
(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	2	148,630,486 - 148,652,743 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	3	148,635,203 - 148,657,271 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	3	147,759,375 - 147,781,639 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	3	155,332,751 - 155,354,135 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	3	155,332,751 - 155,354,139 (-)	Ensembl	panpan1.1		panPan2

SIAH2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	23	45,366,343 - 45,418,960 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	23	45,341,199 - 45,385,546 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	23	45,233,446 - 45,252,449 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	23	45,995,112 - 46,014,122 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	23	45,996,108 - 46,014,111 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	23	45,585,094 - 45,604,128 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	23	45,637,159 - 45,656,202 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	23	45,913,240 - 45,932,290 (-)	NCBI		UU_Cfam_GSD_1.0

Siah2
(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_024405602	90,635,588 - 90,651,834 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936758	1,116,056 - 1,213,442 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936758	1,115,980 - 1,132,225 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SIAH2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	13	90,949,021 - 90,971,411 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	13	90,951,798 - 90,971,538 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	13	99,076,306 - 99,096,119 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SIAH2
(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	15	39,939,209 - 39,960,750 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	15	39,939,832 - 39,959,734 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666041	12,757,953 - 12,779,570 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Siah2
(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_004624730	28,158,750 - 28,178,810 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624730	28,159,096 - 28,178,832 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in SIAH2
17 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	copy number gain	See cases [RCV000051724]	Chr3:147442566..178522531 [GRCh38] Chr3:147160353..178240319 [GRCh37] Chr3:148643043..179723013 [NCBI36] Chr3:3q24-26.32	pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	copy number gain	See cases [RCV000051725]	Chr3:147521892..198096565 [GRCh38] Chr3:147239679..197823436 [GRCh37] Chr3:148722369..199307833 [NCBI36] Chr3:3q24-29	pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]\|See cases [RCV000051723]	Chr3:137126982..198110178 [GRCh38] Chr3:136845824..197837049 [GRCh37] Chr3:138328514..199321446 [NCBI36] Chr3:3q22.3-29	pathogenic
GRCh38/hg38 3q25.1(chr3:150462960-150915627)x1	copy number loss	See cases [RCV000053994]	Chr3:150462960..150915627 [GRCh38] Chr3:150180747..150633414 [GRCh37] Chr3:151663437..152116104 [NCBI36] Chr3:3q25.1	uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	copy number gain	See cases [RCV000134948]	Chr3:103426882..198110178 [GRCh38] Chr3:103145726..197837049 [GRCh37] Chr3:104628416..199321446 [NCBI36] Chr3:3q13.11-29	pathogenic
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	copy number gain	See cases [RCV000240256]	Chr3:142995020..192997215 [GRCh37] Chr3:3q24-29	pathogenic
GRCh37/hg19 3q24-25.2(chr3:148425748-153220169)x1	copy number loss	See cases [RCV000447056]	Chr3:148425748..153220169 [GRCh37] Chr3:3q24-25.2	pathogenic
GRCh37/hg19 3q24-26.2(chr3:147180945-168415875)x1	copy number loss	See cases [RCV000448130]	Chr3:147180945..168415875 [GRCh37] Chr3:3q24-26.2	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	copy number gain	See cases [RCV000512358]	Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	copy number gain	See cases [RCV000511055]	Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29	pathogenic
GRCh37/hg19 3q25.1-25.2(chr3:150352753-153522663)x1	copy number loss	See cases [RCV000510834]	Chr3:150352753..153522663 [GRCh37] Chr3:3q25.1-25.2	likely pathogenic
NM_005067.7(SIAH2):c.47G>A (p.Ser16Asn)	single nucleotide variant	not specified [RCV004312580]	Chr3:150762803 [GRCh38] Chr3:150480590 [GRCh37] Chr3:3q25.1	uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3	copy number gain	not provided [RCV000742138]	Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3	copy number gain	not provided [RCV000742133]	Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29	pathogenic
GRCh37/hg19 3q25.1(chr3:150480595-150481236)x1	copy number loss	not provided [RCV000742882]	Chr3:150480595..150481236 [GRCh37] Chr3:3q25.1	benign
GRCh37/hg19 3q25.1(chr3:150480595-150484844)x1	copy number loss	not provided [RCV000742883]	Chr3:150480595..150484844 [GRCh37] Chr3:3q25.1	benign
NM_005067.7(SIAH2):c.855C>T (p.Asp285=)	single nucleotide variant	not provided [RCV000956144]	Chr3:150742261 [GRCh38] Chr3:150460048 [GRCh37] Chr3:3q25.1	benign
NM_005067.7(SIAH2):c.846G>C (p.Ser282=)	single nucleotide variant	not provided [RCV000956145]	Chr3:150742270 [GRCh38] Chr3:150460057 [GRCh37] Chr3:3q25.1	benign
GRCh37/hg19 3q25.1-25.2(chr3:149404255-152786331)x1	copy number loss	not provided [RCV001005477]	Chr3:149404255..152786331 [GRCh37] Chr3:3q25.1-25.2	pathogenic
GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	copy number gain	See cases [RCV001194586]	Chr3:138145289..162275610 [GRCh37] Chr3:3q22.3-26.1	pathogenic
GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	copy number gain	Global developmental delay [RCV001352648]	Chr3:138173683..162494699 [GRCh37] Chr3:3q22.3-26.1	pathogenic
GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3	copy number gain	Brachycephaly [RCV001801182]	Chr3:142729607..157921084 [GRCh37] Chr3:3q23-25.32	pathogenic
GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	copy number loss	not provided [RCV001795847]	Chr3:143439359..165252122 [GRCh37] Chr3:3q24-26.1	pathogenic
GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	copy number gain	not specified [RCV002053375]	Chr3:145486960..160504834 [GRCh37] Chr3:3q24-25.33	pathogenic
NC_000003.11:g.(?_148447967)_(151176497_?)del	deletion	Glycogen storage disease XV [RCV003120787]	Chr3:148447967..151176497 [GRCh37] Chr3:3q24-25.1	pathogenic
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	copy number gain	not provided [RCV002472621]	Chr3:116620308..172042292 [GRCh37] Chr3:3q13.31-26.31	pathogenic
NM_005067.7(SIAH2):c.35A>G (p.Asn12Ser)	single nucleotide variant	not specified [RCV004098070]	Chr3:150762815 [GRCh38] Chr3:150480602 [GRCh37] Chr3:3q25.1	uncertain significance
NM_005067.7(SIAH2):c.224C>T (p.Thr75Ile)	single nucleotide variant	not specified [RCV004183403]	Chr3:150762626 [GRCh38] Chr3:150480413 [GRCh37] Chr3:3q25.1	uncertain significance
NM_005067.7(SIAH2):c.455C>T (p.Thr152Met)	single nucleotide variant	not specified [RCV004139704]	Chr3:150742661 [GRCh38] Chr3:150460448 [GRCh37] Chr3:3q25.1	uncertain significance
NM_005067.7(SIAH2):c.130G>A (p.Gly44Ser)	single nucleotide variant	not specified [RCV004075854]	Chr3:150762720 [GRCh38] Chr3:150480507 [GRCh37] Chr3:3q25.1	uncertain significance
NM_005067.7(SIAH2):c.80C>G (p.Pro27Arg)	single nucleotide variant	not specified [RCV004181634]	Chr3:150762770 [GRCh38] Chr3:150480557 [GRCh37] Chr3:3q25.1	uncertain significance
NM_005067.7(SIAH2):c.94C>T (p.Pro32Ser)	single nucleotide variant	not specified [RCV004133373]	Chr3:150762756 [GRCh38] Chr3:150480543 [GRCh37] Chr3:3q25.1	uncertain significance
NM_005067.7(SIAH2):c.19A>C (p.Thr7Pro)	single nucleotide variant	not specified [RCV004078488]	Chr3:150762831 [GRCh38] Chr3:150480618 [GRCh37] Chr3:3q25.1	uncertain significance
NM_005067.7(SIAH2):c.785C>G (p.Ala262Gly)	single nucleotide variant	not specified [RCV004136560]	Chr3:150742331 [GRCh38] Chr3:150460118 [GRCh37] Chr3:3q25.1	uncertain significance
NM_005067.7(SIAH2):c.41C>A (p.Pro14His)	single nucleotide variant	not specified [RCV004276970]	Chr3:150762809 [GRCh38] Chr3:150480596 [GRCh37] Chr3:3q25.1	uncertain significance
NM_005067.7(SIAH2):c.968G>A (p.Cys323Tyr)	single nucleotide variant	not specified [RCV004349623]	Chr3:150742148 [GRCh38] Chr3:150459935 [GRCh37] Chr3:3q25.1	uncertain significance
Single allele	duplication	not provided [RCV003448680]	Chr3:140154329..197847235 [GRCh37] Chr3:3q23-29	pathogenic
NM_005067.7(SIAH2):c.31G>T (p.Ala11Ser)	single nucleotide variant	not specified [RCV004453468]	Chr3:150762819 [GRCh38] Chr3:150480606 [GRCh37] Chr3:3q25.1	uncertain significance
NM_005067.7(SIAH2):c.229C>T (p.Leu77Phe)	single nucleotide variant	not specified [RCV004453467]	Chr3:150762621 [GRCh38] Chr3:150480408 [GRCh37] Chr3:3q25.1	uncertain significance
NM_005067.7(SIAH2):c.722G>C (p.Gly241Ala)	single nucleotide variant	not specified [RCV004669778]	Chr3:150742394 [GRCh38] Chr3:150460181 [GRCh37] Chr3:3q25.1	uncertain significance
NM_005067.7(SIAH2):c.188G>T (p.Gly63Val)	single nucleotide variant	not specified [RCV004669779]	Chr3:150762662 [GRCh38] Chr3:150480449 [GRCh37] Chr3:3q25.1	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1237
Count of miRNA genes:	670
Interacting mature miRNAs:	778
Transcripts:	ENST00000312960, ENST00000472885, ENST00000482706
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
407148965	GWAS797941_H	breast carcinoma QTL GWAS797941 (human)		1e-10	breast carcinoma		3	150746484	150746485	Human
406995169	GWAS644145_H	BRCAX breast cancer QTL GWAS644145 (human)		0.0000006	BRCAX breast cancer		3	150755819	150755820	Human
406898068	GWAS547044_H	breast carcinoma QTL GWAS547044 (human)		1e-08	breast carcinoma		3	150762029	150762030	Human
406994119	GWAS643095_H	BRCAX breast cancer QTL GWAS643095 (human)		0.000002	BRCAX breast cancer		3	150750021	150750022	Human
407029156	GWAS678132_H	breast carcinoma QTL GWAS678132 (human)		9e-08	breast carcinoma		3	150750021	150750022	Human
407248544	GWAS897520_H	breast carcinoma QTL GWAS897520 (human)		8e-14	breast carcinoma		3	150754603	150754604	Human
1300026	BP36_H	Blood pressure QTL 36 (human)	4.04		Blood pressure	hypertension susceptibility	3	135720453	161720453	Human
1298415	BP24_H	Blood pressure QTL 24 (human)	2.9		Blood pressure	hypertension susceptibility	3	135720453	161720453	Human
407085420	GWAS734396_H	prostate carcinoma QTL GWAS734396 (human)		5e-10	prostate carcinoma		3	150749153	150749154	Human

Markers in Region

G63006

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	150,481,710 - 150,481,984	UniSTS	GRCh37
Build 36	3	151,964,400 - 151,964,674	RGD	NCBI36
Celera	3	148,894,779 - 148,895,053	RGD
Cytogenetic Map	3	q25	UniSTS
HuRef	3	147,855,156 - 147,855,430	UniSTS
TNG Radiation Hybrid Map	3	84708.0	UniSTS

G54350

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	150,481,718 - 150,481,957	UniSTS	GRCh37
Build 36	3	151,964,408 - 151,964,647	RGD	NCBI36
Celera	3	148,894,787 - 148,895,026	RGD
Cytogenetic Map	3	q25	UniSTS
HuRef	3	147,855,164 - 147,855,403	UniSTS

SIAH2_2129

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	150,459,114 - 150,459,967	UniSTS	GRCh37
Build 36	3	151,941,804 - 151,942,657	RGD	NCBI36
Celera	3	148,872,185 - 148,873,038	RGD
HuRef	3	147,832,590 - 147,833,443	UniSTS

A006R18

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	150,459,021 - 150,459,163	UniSTS	GRCh37
Build 36	3	151,941,711 - 151,941,853	RGD	NCBI36
Celera	3	148,872,092 - 148,872,234	RGD
Cytogenetic Map	3	q25	UniSTS
HuRef	3	147,832,497 - 147,832,639	UniSTS
GeneMap99-GB4 RH Map	3	548.51	UniSTS
NCBI RH Map	3	1305.9	UniSTS

WI-11588

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	150,458,941 - 150,459,067	UniSTS	GRCh37
Build 36	3	151,941,631 - 151,941,757	RGD	NCBI36
Celera	3	148,872,012 - 148,872,138	RGD
Cytogenetic Map	3	q25	UniSTS
HuRef	3	147,832,417 - 147,832,543	UniSTS
GeneMap99-GB4 RH Map	3	548.21	UniSTS
Whitehead-RH Map	3	680.7	UniSTS
NCBI RH Map	3	1321.6	UniSTS

SHGC-32660

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	150,459,072 - 150,459,223	UniSTS	GRCh37
Build 36	3	151,941,762 - 151,941,913	RGD	NCBI36
Celera	3	148,872,143 - 148,872,294	RGD
Cytogenetic Map	3	q25	UniSTS
HuRef	3	147,832,548 - 147,832,699	UniSTS
GeneMap99-GB4 RH Map	3	550.43	UniSTS
Whitehead-RH Map	3	685.7	UniSTS
NCBI RH Map	3	1314.7	UniSTS
GeneMap99-G3 RH Map	3	7305.0	UniSTS

G19157

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	150,495,475 - 150,495,670	UniSTS	GRCh37
Build 36	3	151,978,165 - 151,978,360	RGD	NCBI36
Celera	3	148,908,544 - 148,908,739	RGD
Cytogenetic Map	3	q25	UniSTS
HuRef	3	147,868,921 - 147,869,116	UniSTS

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_005067	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC011317	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ323446	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK055290	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK223565	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW377592	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC013082	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BF514387	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM970396	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX110898	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471052	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CK823254	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068275	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT584741	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U76248	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Y15268	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000312960 ⟹ ENSP00000322457

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	150,741,125 - 150,763,169 (-)	Ensembl

Ensembl Acc Id:

ENST00000472885

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	150,762,456 - 150,763,477 (-)	Ensembl

Ensembl Acc Id:

ENST00000482706 ⟹ ENSP00000417619

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	150,742,488 - 150,763,431 (-)	Ensembl

RefSeq Acc Id:

NM_005067 ⟹ NP_005058

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	150,741,125 - 150,763,169 (-)	NCBI
GRCh37	3	150,458,910 - 150,481,263 (-)	ENTREZGENE
Build 36	3	151,941,600 - 151,963,953 (-)	NCBI Archive
HuRef	3	147,832,386 - 147,876,859 (-)	ENTREZGENE
CHM1_1	3	150,421,938 - 150,444,291 (-)	NCBI
T2T-CHM13v2.0	3	153,492,334 - 153,514,363 (-)	NCBI

Sequence:

show sequence

GCTTGCGTCAGCGGCTGTTCCAGAAGCGGGTGGGCCAGGGCTCTGCGCACCGCTGGGGTTCGGG
GCCCGGGACGCCGCCGGGAGGAGGGCACCGCGCGGGGTCCGACGCGGAGGCGTGCTCGGAACGC
CGGGGGCTGCGGAGTGCATCAGCGCGGTCCAGCCCTCCGCCTGCCGGGCGCCGAGCGTCTCCGC
CGCCCGGACCTGGGCTGGGCGCCGTGGCGTTGCCTCGGAGCTCGCTGCCCGCGGGGCGCGCACC
GCCTTGACCCGGGCGGCCCCGCGGCAGGCAGGCGCCCGCAGTTCCATGGTTGGTTCGGAGCGCG
ATGAGCCGCCCGTCCTCCACCGGCCCCAGCGCTAATAAACCCTGCAGCAAGCAGCCGCCGCCGC
AGCCCCAGCACACTCCGTCCCCGGCTGCGCCCCCGGCCGCCGCCACCATCTCGGCTGCGGGCCC
CGGCTCGTCCGCGGTGCCCGCCGCGGCGGCGGTGATCTCGGGCCCCGGCGGCGGCGGCGGGGCC
GGCCCGGTGTCCCCGCAGCACCACGAGCTGACCTCGCTCTTCGAGTGTCCGGTCTGCTTTGACT
ATGTCCTGCCTCCTATTCTGCAGTGCCAGGCCGGGCACCTGGTGTGTAACCAATGCCGCCAGAA
GTTGAGCTGCTGCCCGACGTGCAGGGGCGCCCTGACGCCCAGCATCAGGAACCTGGCTATGGAG
AAGGTGGCCTCGGCAGTCCTGTTTCCCTGTAAGTATGCCACCACGGGCTGTTCCCTGACCCTGC
ACCATACGGAGAAACCAGAACATGAAGACATATGTGAATACCGTCCCTACTCCTGCCCATGTCC
TGGTGCTTCCTGCAAGTGGCAGGGGTCCCTGGAAGCTGTGATGTCCCATCTCATGCACGCCCAC
AAGAGCATTACCACCCTTCAGGGAGAAGACATCGTCTTTCTAGCTACAGACATTAACTTGCCAG
GGGCTGTCGACTGGGTGATGATGCAGTCATGTTTTGGCCATCACTTCATGCTGGTGCTGGAGAA
ACAAGAGAAGTACGAAGGCCACCAGCAGTTTTTTGCCATCGTCCTGCTCATTGGCACCCGCAAG
CAAGCCGAGAACTTTGCCTACAGACTGGAGTTGAATGGGAACCGGCGGAGATTGACCTGGGAGG
CCACGCCCCGTTCGATTCATGACGGTGTGGCTGCGGCCATCATGAACAGCGACTGCCTTGTTTT
CGACACAGCCATAGCACATCTTTTTGCAGATAATGGGAACCTTGGAATCAATGTTACTATTTCT
ACATGTTGTCCATGATGTGACTTTCGTAAACCTTCAAAATTATTTGGGCATAGTGCTCTATGTT
TAATAAAGGTTTTTATAGATGTTTTATTCCATATGTCTTCACAAGTCAGGACCCACAATTACCC
GTGTTTTGTTTGAACAGCAGTGTCCCATCTGGCTTCGACCCAACAAAGTTCATTAACCTGGGAT
GAATGGGGTTGGCCTGTTGGTGATTTGGATGCTGTTCTGTGATCTAAAACAACTCTTATTGAAT
TGTATTTACTCCCTAAACAACACTTGACAGGCTGTTGCACAGGGCTTCTATAGATCAGTGTGTT
AGGAATGGGAGGCCCCTTCCTGCCTGCCTTCCCATATTGGTCCCTTGACATTGACAAAAGCACA
GTGACTGTCAGCAGATTCCTTTACTTTTGTTTGTGGGAGGTAGGAATTGTTTTAATGCATTTTA
AACAGTGTTTCTGAAATTGGATGGCTGGCTAATAGACACTGAATCACCCGGAGTGCTTATCTTA
AAATTGCAGATTTAGGGAGCCTGCCAATTTAACAGTCTCATCAGGTGATTCTTTTCAACAGTAA
TGTTTGAGAATTACTGGGTTAAATTGTGGGAAAGGGTCCAGATTTTAAAGGTGCTTTAAGGTTG
CCCTCTGCCGATACTGTTTGTCTTTCTACTGTTTCATCCCCTAACTTCCCCCAACCCTCAAATT
AAAACTAGAACTATAGATCCACATGAACGCACGCCTGAGATTTGGCCACTCACCTATGTTTTGG
GTGGATTGCCTAGGAAAGCAAGTCATATGGCCATTGATAGTTCTCATGTAATTAGTTTTGCTCA
CCACTAGTACAGATGACCCGTTTACACGTGGCTTCCCTCGGAAGCCCTCCTCAACAGTAGCTGG
TGTGAAAGACTAAATCAGTAGAGTTGGAAAAGCTTTATAACCGGTGTGTCATATGCTTGCTATT
TAAAGCTGTGTGTTGGTTTTGTTTTTCTGCCACATTCACTAGTTTTTTAATAAATATTTTCCAA
AAATGGA

hide sequence

Protein Sequences


Protein RefSeqs	NP_005058	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAC51908	(Get FASTA)	NCBI Sequence Viewer
	AAH13082	(Get FASTA)	NCBI Sequence Viewer
	BAD97285	(Get FASTA)	NCBI Sequence Viewer
	CAA75557	(Get FASTA)	NCBI Sequence Viewer
	EAW78821	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000322457
	ENSP00000322457.3
	ENSP00000417619.1
GenBank Protein	O43255	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_005058 ⟸ NM_005067

- UniProtKB:

O43270 (UniProtKB/Swiss-Prot), O43255 (UniProtKB/Swiss-Prot), Q53ES4 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MSRPSSTGPSANKPCSKQPPPQPQHTPSPAAPPAAATISAAGPGSSAVPAAAAVISGPGGGGGA
GPVSPQHHELTSLFECPVCFDYVLPPILQCQAGHLVCNQCRQKLSCCPTCRGALTPSIRNLAME
KVASAVLFPCKYATTGCSLTLHHTEKPEHEDICEYRPYSCPCPGASCKWQGSLEAVMSHLMHAH
KSITTLQGEDIVFLATDINLPGAVDWVMMQSCFGHHFMLVLEKQEKYEGHQQFFAIVLLIGTRK
QAENFAYRLELNGNRRRLTWEATPRSIHDGVAAAIMNSDCLVFDTAIAHLFADNGNLGINVTIS
TCCP

hide sequence

Ensembl Acc Id:

ENSP00000417619 ⟸ ENST00000482706

Ensembl Acc Id:

ENSP00000322457 ⟸ ENST00000312960

Protein Domains

RING-type SIAH-type

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O43255-F1-model_v2	AlphaFold	O43255	1-324	view protein structure

Promoters

RGD ID:

6865996

Promoter ID:

EPDNEW_H6163

Type:

initiation region

Name:

SIAH2_1

Description:

siah E3 ubiquitin protein ligase 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H6164

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	150,763,148 - 150,763,208	EPDNEW

RGD ID:

6865998

Promoter ID:

EPDNEW_H6164

Type:

initiation region

Name:

SIAH2_2

Description:

siah E3 ubiquitin protein ligase 2

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H6163

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	150,763,490 - 150,763,550	EPDNEW

RGD ID:

6801682

Promoter ID:

HG_KWN:46471

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

NM_005067

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	3	151,962,951 - 151,964,257 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:10858	AgrOrtholog
COSMIC	SIAH2	COSMIC
Ensembl Genes	ENSG00000181788	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000312960	ENTREZGENE
	ENST00000312960.4	UniProtKB/Swiss-Prot
	ENST00000482706.1	UniProtKB/TrEMBL
Gene3D-CATH	3.30.40.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000181788	GTEx
HGNC ID	HGNC:10858	ENTREZGENE
Human Proteome Map	SIAH2	Human Proteome Map
InterPro	7-in-absentia-prot_TRAF-dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SINA-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Sina-like_RING	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TRAF-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Znf_RING	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Znf_RING/FYVE/PHD	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Znf_SIAH	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:6478	UniProtKB/Swiss-Prot
NCBI Gene	6478	ENTREZGENE
OMIM	602213	OMIM
PANTHER	E3 UBIQUITIN-PROTEIN LIGASE SIAH2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR45877	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Sina	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Sina_RING	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Sina_ZnF	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA35760	PharmGKB
PROSITE	ZF_RING_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ZF_SIAH	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	RING/U-box	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TRAF domain-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	C9J9D7_HUMAN	UniProtKB/TrEMBL
	O43255	ENTREZGENE
	O43270	ENTREZGENE
	Q53ES4	ENTREZGENE, UniProtKB/TrEMBL
	SIAH2_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	O43270	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2012-03-01	SIAH2	siah E3 ubiquitin protein ligase 2	SIAH2	seven in absentia homolog 2 (Drosophila)	Symbol and/or name change	5135510	APPROVED

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

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

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

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

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

RGD Manual Annotations

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

RGD Manual Annotations