Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8924
Gene name	HECT and RLD domain containing E3 ubiquitin protein ligase 2
Gene symbol	HERC2
Synonyms (NCBI Gene)	D15F37S1MRT38SHEP1jdf2p528
Chromosome	15
Chromosome location	15q13.1
Summary	This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-termi

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SNP ID	Visualize variation	Clinical significance	Consequence
rs916977	T>C,G	Affects	Genic upstream transcript variant, intron variant
rs200457382	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant
rs373175587	A>T	Pathogenic, benign	Coding sequence variant, genic downstream transcript variant, missense variant
rs397518474	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant
rs575492335	G>A	Likely-pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs752908306	G>A,C	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs1057518934	G>-	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057519727	A>G	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1555415658	A>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1555444543	GTCCAGTCCTGGCAA>-	Pathogenic	Inframe deletion, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1596199137	->ATCAC	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1596207451	->TC	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

132

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miRTarBase ID	miRNA	Experiments	Reference
MIRT023773	hsa-miR-1-3p	Proteomics	18668040
MIRT026472	hsa-miR-192-5p	Microarray	19074876
MIRT042693	hsa-miR-196b-5p	CLASH	23622248
MIRT041348	hsa-miR-193b-3p	CLASH	23622248
MIRT037101	hsa-miR-877-3p	CLASH	23622248
MIRT497911	hsa-miR-4798-3p	PAR-CLIP	22291592
MIRT497910	hsa-miR-488-3p	PAR-CLIP	22291592
MIRT440515	hsa-miR-382-3p	HITS-CLIP	24374217
MIRT440514	hsa-miR-382-5p	HITS-CLIP	24374217
MIRT440513	hsa-miR-1185-2-3p	HITS-CLIP	24374217
MIRT440511	hsa-miR-1185-1-3p	HITS-CLIP	24374217
MIRT440512	hsa-miR-544a	HITS-CLIP	24374217
MIRT440515	hsa-miR-382-3p	HITS-CLIP	24374217
MIRT440514	hsa-miR-382-5p	HITS-CLIP	24374217
MIRT440513	hsa-miR-1185-2-3p	HITS-CLIP	24374217
MIRT440511	hsa-miR-1185-1-3p	HITS-CLIP	24374217
MIRT440512	hsa-miR-544a	HITS-CLIP	24374217
MIRT497911	hsa-miR-4798-3p	PAR-CLIP	22291592
MIRT497910	hsa-miR-488-3p	PAR-CLIP	22291592
MIRT1044301	hsa-miR-103a	CLIP-seq
MIRT1044302	hsa-miR-107	CLIP-seq
MIRT1044303	hsa-miR-1208	CLIP-seq
MIRT1044304	hsa-miR-1229	CLIP-seq
MIRT1044305	hsa-miR-128	CLIP-seq
MIRT1044306	hsa-miR-1297	CLIP-seq
MIRT1044307	hsa-miR-1910	CLIP-seq
MIRT1044308	hsa-miR-200b	CLIP-seq
MIRT1044309	hsa-miR-200c	CLIP-seq
MIRT1044310	hsa-miR-203	CLIP-seq
MIRT1044311	hsa-miR-26a	CLIP-seq
MIRT1044312	hsa-miR-26b	CLIP-seq
MIRT1044313	hsa-miR-30a	CLIP-seq
MIRT1044314	hsa-miR-30b	CLIP-seq
MIRT1044315	hsa-miR-30c	CLIP-seq
MIRT1044316	hsa-miR-30d	CLIP-seq
MIRT1044317	hsa-miR-30e	CLIP-seq
MIRT1044318	hsa-miR-329	CLIP-seq
MIRT1044319	hsa-miR-362-3p	CLIP-seq
MIRT1044320	hsa-miR-3667-5p	CLIP-seq
MIRT1044321	hsa-miR-369-3p	CLIP-seq
MIRT1044322	hsa-miR-374a	CLIP-seq
MIRT1044323	hsa-miR-374b	CLIP-seq
MIRT1044324	hsa-miR-380	CLIP-seq
MIRT1044325	hsa-miR-3937	CLIP-seq
MIRT1044326	hsa-miR-3939	CLIP-seq
MIRT1044327	hsa-miR-3941	CLIP-seq
MIRT1044328	hsa-miR-4255	CLIP-seq
MIRT1044329	hsa-miR-4282	CLIP-seq
MIRT1044330	hsa-miR-429	CLIP-seq
MIRT1044331	hsa-miR-4310	CLIP-seq
MIRT1044332	hsa-miR-4428	CLIP-seq
MIRT1044333	hsa-miR-4465	CLIP-seq
MIRT1044334	hsa-miR-466	CLIP-seq
MIRT1044335	hsa-miR-4666-5p	CLIP-seq
MIRT1044336	hsa-miR-4672	CLIP-seq
MIRT1044337	hsa-miR-4782-5p	CLIP-seq
MIRT1044338	hsa-miR-488	CLIP-seq
MIRT1044339	hsa-miR-586	CLIP-seq
MIRT1044340	hsa-miR-603	CLIP-seq
MIRT1044301	hsa-miR-103a	CLIP-seq
MIRT1044302	hsa-miR-107	CLIP-seq
MIRT2009632	hsa-miR-1272	CLIP-seq
MIRT2009633	hsa-miR-1322	CLIP-seq
MIRT2009634	hsa-miR-1324	CLIP-seq
MIRT2009635	hsa-miR-139-5p	CLIP-seq
MIRT2009636	hsa-miR-149	CLIP-seq
MIRT2009637	hsa-miR-151-5p	CLIP-seq
MIRT2009638	hsa-miR-151b	CLIP-seq
MIRT2009639	hsa-miR-184	CLIP-seq
MIRT1044307	hsa-miR-1910	CLIP-seq
MIRT2009640	hsa-miR-27a	CLIP-seq
MIRT2009641	hsa-miR-27b	CLIP-seq
MIRT2009642	hsa-miR-299-5p	CLIP-seq
MIRT2009643	hsa-miR-3131	CLIP-seq
MIRT1044318	hsa-miR-329	CLIP-seq
MIRT1044319	hsa-miR-362-3p	CLIP-seq
MIRT1044324	hsa-miR-380	CLIP-seq
MIRT1044327	hsa-miR-3941	CLIP-seq
MIRT2009644	hsa-miR-4258	CLIP-seq
MIRT1044331	hsa-miR-4310	CLIP-seq
MIRT2009645	hsa-miR-4514	CLIP-seq
MIRT2009646	hsa-miR-4645-5p	CLIP-seq
MIRT1044334	hsa-miR-466	CLIP-seq
MIRT1044335	hsa-miR-4666-5p	CLIP-seq
MIRT1044336	hsa-miR-4672	CLIP-seq
MIRT2009647	hsa-miR-4673	CLIP-seq
MIRT2009648	hsa-miR-4692	CLIP-seq
MIRT2009649	hsa-miR-4733-3p	CLIP-seq
MIRT2009650	hsa-miR-513a-5p	CLIP-seq
MIRT2009651	hsa-miR-579	CLIP-seq
MIRT1044340	hsa-miR-603	CLIP-seq
MIRT2009652	hsa-miR-611	CLIP-seq
MIRT2009653	hsa-miR-659	CLIP-seq
MIRT2009654	hsa-miR-664	CLIP-seq
MIRT1044301	hsa-miR-103a	CLIP-seq
MIRT1044302	hsa-miR-107	CLIP-seq
MIRT2241919	hsa-miR-1245b-3p	CLIP-seq
MIRT2241920	hsa-miR-1253	CLIP-seq
MIRT2009632	hsa-miR-1272	CLIP-seq
MIRT2009633	hsa-miR-1322	CLIP-seq
MIRT2009636	hsa-miR-149	CLIP-seq
MIRT1044307	hsa-miR-1910	CLIP-seq
MIRT2241921	hsa-miR-300	CLIP-seq
MIRT1044313	hsa-miR-30a	CLIP-seq
MIRT1044314	hsa-miR-30b	CLIP-seq
MIRT1044315	hsa-miR-30c	CLIP-seq
MIRT1044316	hsa-miR-30d	CLIP-seq
MIRT1044317	hsa-miR-30e	CLIP-seq
MIRT2009643	hsa-miR-3131	CLIP-seq
MIRT2241922	hsa-miR-3192	CLIP-seq
MIRT2241923	hsa-miR-323b-3p	CLIP-seq
MIRT1044318	hsa-miR-329	CLIP-seq
MIRT1044319	hsa-miR-362-3p	CLIP-seq
MIRT1044320	hsa-miR-3667-5p	CLIP-seq
MIRT2241924	hsa-miR-3689a-3p	CLIP-seq
MIRT2241925	hsa-miR-3689c	CLIP-seq
MIRT1044324	hsa-miR-380	CLIP-seq
MIRT2241926	hsa-miR-381	CLIP-seq
MIRT1044327	hsa-miR-3941	CLIP-seq
MIRT2241927	hsa-miR-3942-3p	CLIP-seq
MIRT2241928	hsa-miR-410	CLIP-seq
MIRT1044331	hsa-miR-4310	CLIP-seq
MIRT1044334	hsa-miR-466	CLIP-seq
MIRT2241929	hsa-miR-4666-3p	CLIP-seq
MIRT1044335	hsa-miR-4666-5p	CLIP-seq
MIRT2241930	hsa-miR-4670-3p	CLIP-seq
MIRT1044336	hsa-miR-4672	CLIP-seq
MIRT2241931	hsa-miR-4728-5p	CLIP-seq
MIRT1044338	hsa-miR-488	CLIP-seq
MIRT2241932	hsa-miR-587	CLIP-seq
MIRT1044340	hsa-miR-603	CLIP-seq
MIRT2009652	hsa-miR-611	CLIP-seq

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Transcription factor	Regulation	Reference
HLTF	Unknown	22234890
LEF1	Unknown	22234890
MITF	Unknown	22234890

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	NAS	9949213
GO:0005515	Function	Protein binding	IPI	20023648, 20304803, 28514442, 29426014, 31413325, 33961781, 35140242, 36241744
GO:0005634	Component	Nucleus	IDA	20304803
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	20304803
GO:0005737	Component	Cytoplasm	IEA
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0006281	Process	DNA repair	IEA
GO:0006886	Process	Intracellular protein transport	NAS	9949213
GO:0006974	Process	DNA damage response	IDA	22508508
GO:0006974	Process	DNA damage response	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA
GO:0016567	Process	Protein ubiquitination	IBA
GO:0016567	Process	Protein ubiquitination	IDA	20304803
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	22508508
GO:0032183	Function	SUMO binding	IDA	22508508
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IEA
GO:0045746	Process	Negative regulation of Notch signaling pathway	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	20304803
GO:0061630	Function	Ubiquitin protein ligase activity	IEA

MIM	HGNC	e!Ensembl
605837	4868	ENSG00000128731

O95714

Protein name

E3 ubiquitin-protein ligase HERC2 (EC 2.3.2.26) (HECT domain and RCC1-like domain-containing protein 2) (HECT-type E3 ubiquitin transferase HERC2)

Protein function

E3 ubiquitin-protein ligase that regulates ubiquitin-dependent retention of repair proteins on damaged chromosomes. Recruited to sites of DNA damage in response to ionizing radiation (IR) and facilitates the assembly of UBE2N and RNF8 promoting

PDB

2KEO , 3KCI , 4L1M , 6WW3 , 6WW4 , 7Q40 , 7Q41 , 7Q42 , 7Q43 , 7Q44 , 7Q45 , 7Q46 , 7RGW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00415	RCC1	513 → 566	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	569 → 615	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	623 → 672	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	675 → 724	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00173	Cyt-b5	1211 → 1283	Cytochrome b5-like Heme/Steroid binding domain	Domain
PF06701	MIB_HERC2	1870 → 1930	Mib_herc2	Domain
PF11515	Cul7	2554 → 2631	Mouse development and cellular proliferation protein Cullin-7	Family
PF00569	ZZ	2702 → 2746	Zinc finger, ZZ type	Domain
PF03256	ANAPC10	2782 → 2923	Anaphase-promoting complex, subunit 10 (APC10)	Family
PF00415	RCC1	3010 → 3062	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	3065 → 3114	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	3117 → 3162	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	3171 → 3220	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	3223 → 3272	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	3275 → 3324	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	4003 → 4054	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	4057 → 4106	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	4109 → 4154	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	4163 → 4212	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	4215 → 4264	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	4267 → 4316	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00632	HECT	4487 → 4793	HECT-domain (ubiquitin-transferase)	Domain

Sequence

MPSESFCLAAQARLDSKWLKTDIQLAFTRDGLCGLWNEMVKDGEIVYTGTESTQNGELPP
RKDDSVEPSGTKKEDLNDKEKKDEEETPAPIYRAKSILDSWVWGKQPDVNELKECLSVLV
KEQQALAVQSATTTLSALRLKQRLVILERYFIALNRTVFQENVKVKWKSSGISLPPVDKK
SSRPAGKGVEGLARVGSRAALSFAFAFLRRAWRSGEDADLCSELLQESLDALRALPEASL
FDESTVSSVWLEVVERATRFLRSVVTGDVHGTPATKGPGSIPLQDQHLALAILLELAVQR
GTLSQMLSAILLLLQLWDSGAQETDNERSAQGTSAPLLPLLQRFQSIICRKDAPHSEGDM
HLLSGPLSPNESFLRYLTLPQDNELAIDLRQTAVVVMAHLDRLATPCMPPLCSSPTSHKG
SLQEVIGWGLIGWKYYANVIGPIQCEGLANLGVTQIACAEKRFLILSRNGRVYTQAYNSD
TLAPQLVQGLASRNIVKIAAHSDGHHYLALAATGEVYSWGCGDGGRLGHGDTVPLEEPKV
ISAFSGKQAGKHVVHIACGSTYSAAITAEGELYTWGRGNYGRLGHGSSEDEAIPMLVAGL
KGLKVIDVACGSGDAQTLAVTENGQVWSWGDGDYGKLGRGGSDGCKTPKLIEKLQDLDVV
KVRCGSQFSIALTKDGQVYSWGKGDNQRLGHGTEEHVRYPKLLEGLQGKKVIDVAAGSTH
CLALTEDSEVHSWGSNDQCQHFDTLRVTKPEPAALPGLDTKHIVGIACGPAQSFAWSSCS
EWSIGLRVPFVVDICSMTFEQLDLLLRQVSEGMDGSADWPPPQEKECVAVATLNLLRLQL
HAAISHQVDPEFLGLGLGSILLNSLKQTVVTLASSAGVLSTVQSAAQAVLQSGWSVLLPT
AEERARALSALLPCAVSGNEVNISPGRRFMIDLLVGSLMADGGLESALHAAITAEIQDIE
AKKEAQKEKEIDEQEANASTFHRSRTPLDKDLINTGICESSGKQCLPLVQLIQQLLRNIA
SQTVARLKDVARRISSCLDFEQHSRERSASLDLLLRFQRLLISKLYPGESIGQTSDISSP
ELMGVGSLLKKYTALLCTHIGDILPVAASIASTSWRHFAEVAYIVEGDFTGVLLPELVVS
IVLLLSKNAGLMQEAGAVPLLGGLLEHLDRFNHLAPGKERDDHEELAWPGIMESFFTGQN
CRNNEEVTLIRKADLENHNKDGGFWTVIDGKVYDIKDFQTQSLTGNSILAQFAGEDPVVA
LEAALQFEDTRESMHAFCVGQYLEPDQEIVTIPDLGSLSSPLIDTERNLGLLLGLHASYL
AMSTPLSPVEIECAKWLQSSIFSGGLQTSQIHYSYNEEKDEDHCSSPGGTPASKSRLCSH
RRALGDHSQAFLQAIADNNIQDHNVKDFLCQIERYCRQCHLTTPIMFPPEHPVEEVGRLL
LCCLLKHEDLGHVALSLVHAGALGIEQVKHRTLPKSVVDVCRVVYQAKCSLIKTHQEQGR
SYKEVCAPVIERLRFLFNELRPAVCNDLSIMSKFKLLSSLPRWRRIAQKIIRERRKKRVP
KKPESTDDEEKIGNEESDLEEACILPHSPINVDKRPIAIKSPKDKWQPLLSTVTGVHKYK
WLKQNVQGLYPQSPLLSTIAEFALKEEPVDVEKMRKCLLKQLERAEVRLEGIDTILKLAS
KNFLLPSVQYAMFCGWQRLIPEGIDIGEPLTDCLKDVDLIPPFNRMLLEVTFGKLYAWAV
QNIRNVLMDASAKFKELGIQPVPLQTITNENPSGPSLGTIPQARFLLVMLSMLTLQHGAN
NLDLLLNSGMLALTQTALRLIGPSCDNVEEDMNASAQGASATVLEETRKETAPVQLPVSG
PELAAMMKIGTRVMRGVDWKWGDQDGPPPGLGRVIGELGEDGWIRVQWDTGSTNSYRMGK
EGKYDLKLAELPAAAQPSAEDSDTEDDSEAEQTERNIHPTAMMFTSTINLLQTLCLSAGV
HAEIMQSEATKTLCGLLRMLVESGTTDKTSSPNRLVYREQHRSWCTLGFVRSIALTPQVC
GALSSPQWITLLMKVVEGHAPFTATSLQRQILAVHLLQAVLPSWDKTERARDMKCLVEKL
FDFLGSLLTTCSSDVPLLRESTLRRRRVRPQASLTATHSSTLAEEVVALLRTLHSLTQWN
GLINKYINSQLRSITHSFVGRPSEGAQLEDYFPDSENPEVGGLMAVLAVIGGIDGRLRLG
GQVMHDEFGEGTVTRITPKGKITVQFSDMRTCRVCPLNQLKPLPAVAFNVNNLPFTEPML
SVWAQLVNLAGSKLEKHKIKKSTKQAFAGQVDLDLLRCQQLKLYILKAGRALLSHQDKLR
QILSQPAVQETGTVHTDDGAVVSPDLGDMSPEGPQPPMILLQQLLASATQPSPVKAIFDK
QELEAAALAVCQCLAVESTHPSSPGFEDCSSSEATTPVAVQHIRPARVKRRKQSPVPALP
IVVQLMEMGFSRRNIEFALKSLTGASGNASSLPGVEALVGWLLDHSDIQVTELSDADTVS
DEYSDEEVVEDVDDAAYSMSTGAVVTESQTYKKRADFLSNDDYAVYVRENIQVGMMVRCC
RAYEEVCEGDVGKVIKLDRDGLHDLNVQCDWQQKGGTYWVRYIHVELIGYPPPSSSSHIK
IGDKVRVKASVTTPKYKWGSVTHQSVGVVKAFSANGKDIIVDFPQQSHWTGLLSEMELVP
SIHPGVTCDGCQMFPINGSRFKCRNCDDFDFCETCFKTKKHNTRHTFGRINEPGQSAVFC
GRSGKQLKRCHSSQPGMLLDSWSRMVKSLNVSSSVNQASRLIDGSEPCWQSSGSQGKHWI
RLEIFPDVLVHRLKMIVDPADSSYMPSLVVVSGGNSLNNLIELKTININPSDTTVPLLND
CTEYHRYIEIAIKQCRSSGIDCKIHGLILLGRIRAEEEDLAAVPFLASDNEEEEDEKGNS
GSLIRKKAAGLESAATIRTKVFVWGLNDKDQLGGLKGSKIKVPSFSETLSALNVVQVAGG
SKSLFAVTVEGKVYACGEATNGRLGLGISSGTVPIPRQITALSSYVVKKVAVHSGGRHAT
ALTVDGKVFSWGEGDDGKLGHFSRMNCDKPRLIEALKTKRIRDIACGSSHSAALTSSGEL
YTWGLGEYGRLGHGDNTTQLKPKMVKVLLGHRVIQVACGSRDAQTLALTDEGLVFSWGDG
DFGKLGRGGSEGCNIPQNIERLNGQGVCQIECGAQFSLALTKSGVVWTWGKGDYFRLGHG
SDVHVRKPQVVEGLRGKKIVHVAVGALHCLAVTDSGQVYAWGDNDHGQQGNGTTTVNRKP
TLVQGLEGQKITRVACGSSHSVAWTTVDVATPSVHEPVLFQTARDPLGASYLGVPSDADS
SAASNKISGASNSKPNRPSLAKILLSLDGNLAKQQALSHILTALQIMYARDAVVGALMPA
AMIAPVECPSFSSAAPSDASAMASPMNGEECMLAVDIEDRLSPNPWQEKREIVSSEDAVT
PSAVTPSAPSASARPFIPVTDDLGAASIIAETMTKTKEDVESQNKAAGPEPQALDEFTSL
LIADDTRVVVDLLKLSVCSRAGDRGRDVLSAVLSGMGTAYPQVADMLLELCVTELEDVAT
DSQSGRLSSQPVVVESSHPYTDDTSTSGTVKIPGAEGLRVEFDRQCSTERRHDPLTVMDG
VNRIVSVRSGREWSDWSSELRIPGDELKWKFISDGSVNGWGWRFTVYPIMPAAGPKELLS
DRCVLSCPSMDLVTCLLDFRLNLASNRSIVPRLAASLAACAQLSALAASHRMWALQRLRK
LLTTEFGQSININRLLGENDGETRALSFTGSALAALVKGLPEALQRQFEYEDPIVRGGKQ
LLHSPFFKVLVALACDLELDTLPCCAETHKWAWFRRYCMASRVAVALDKRTPLPRLFLDE
VAKKIRELMADSENMDVLHESHDIFKREQDEQLVQWMNRRPDDWTLSAGGSGTIYGWGHN
HRGQLGGIEGAKVKVPTPCEALATLRPVQLIGGEQTLFAVTADGKLYATGYGAGGRLGIG
GTESVSTPTLLESIQHVFIKKVAVNSGGKHCLALSSEGEVYSWGEAEDGKLGHGNRSPCD
RPRVIESLRGIEVVDVAAGGAHSACVTAAGDLYTWGKGRYGRLGHSDSEDQLKPKLVEAL
QGHRVVDIACGSGDAQTLCLTDDDTVWSWGDGDYGKLGRGGSDGCKVPMKIDSLTGLGVV
KVECGSQFSVALTKSGAVYTWGKGDYHRLGHGSDDHVRRPRQVQGLQGKKVIAIATGSLH
CVCCTEDGEVYTWGDNDEGQLGDGTTNAIQRPRLVAALQGKKVNRVACGSAHTLAWSTSK
PASAGKLPAQVPMEYNHLQEIPIIALRNRLLLLHHLSELFCPCIPMFDLEGSLDETGLGP
SVGFDTLRGILISQGKEAAFRKVVQATMVRDRQHGPVVELNRIQVKRSRSKGGLAGPDGT
KSVFGQMCAKMSSFGPDSLLLPHRVWKVKFVGESVDDCGGGYSESIAEICEELQNGLTPL
LIVTPNGRDESGANRDCYLLSPAARAPVHSSMFRFLGVLLGIAIRTGSPLSLNLAEPVWK
QLAGMSLTIADLSEVDKDFIPGLMYIRDNEATSEEFEAMSLPFTVPSASGQDIQLSSKHT
HITLDNRAEYVRLAINYRLHEFDEQVAAVREGMARVVPVPLLSLFTGYELETMVCGSPDI
PLHLLKSVATYKGIEPSASLIQWFWEVMESFSNTERSLFLRFVWGRTRLPRTIADFRGRD
FVIQVLDKYNPPDHFLPESYTCFFLLKLPRYSCKQVLEEKLKYAIHFCKSIDTDDYARIA
LTGEPAADDSSDDSDNEDVDSFASDSTQDYLTGH

Sequence length

4834

Interactions

View interactions

	KEGG		Reactome
	Ubiquitin mediated proteolysis		SUMOylation of DNA damage response and repair proteins Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Nonhomologous End-Joining (NHEJ) Processing of DNA double-strand break ends G2/M DNA damage checkpoint Antigen processing: Ubiquitination & Proteasome degradation

210

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental delay with autism spectrum disorder and gait instability	Pathogenic; Likely pathogenic	rs756221917, rs1224448657, rs2548818940, rs1555415658, rs1596207451, rs575492335, rs1596199137, rs397518474	RCV001839180 RCV002266820 RCV003153178 RCV000626149 RCV000791133 RCV000989279 RCV000991452 RCV000074397
Prader-Willi syndrome	Likely pathogenic; Pathogenic	rs575492335, rs1891259083	RCV005359724 RCV001198553
See cases	Likely pathogenic	rs1279608901	RCV002252493
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Likely pathogenic	rs2549098724, rs1596199137	RCV003990436 RCV000991452

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Conflicting classifications of pathogenicity; Likely benign	rs200632307, rs117411594	RCV005893636 RCV005902659
Clear cell carcinoma of kidney	Likely benign	rs117411594	RCV005902661
Colorectal cancer	Likely benign	rs151156359	RCV005911004
concomitant exotropia	Conflicting classifications of pathogenicity	rs185865505	RCV004730975
Global developmental delay	Uncertain significance	rs145535698	RCV000449631
HERC2-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs142880342, rs142753406, rs61754657, rs140345440, rs113016718, rs538829323, rs150930758, rs140932450, rs150853451, rs2905939, rs139713317, rs138827571, rs114532098, rs188086401, rs145438661 View all (52 more)	RCV003931174 RCV003931173 RCV004756277 RCV003913373 RCV004731253 RCV003903648 RCV003937768 RCV003936659 RCV004756493 RCV003410754 RCV004756510 RCV003966361 RCV004756511 RCV004756512 RCV004756513 RCV003946541 RCV003954141 RCV003946542 RCV004756514 RCV003929055 RCV004756515 RCV003906753 RCV003946543 RCV003909220 RCV003919724 RCV003923826 RCV003981515 RCV003974736 RCV003899268 RCV003909549 RCV003944163 RCV003959812 RCV003972094 RCV003929426 RCV003951644 RCV003934484 RCV003949722 RCV003917409 RCV003949477 RCV003956917 RCV003922040 RCV003917328 RCV003936892 RCV003949138 RCV003934622 RCV003976853 RCV003957363 RCV003959473 RCV003954814 RCV003969629 RCV003971482 RCV003978939 RCV003978978 RCV003961853 RCV003962255 RCV003976483 RCV003976507 RCV003960209 RCV003935390 RCV003962454 RCV003917952 RCV004756125 RCV003935875 RCV004756126 RCV004756140 RCV004756063 RCV003932854
Malignant lymphoma, large B-cell, diffuse	Benign	rs8041209	RCV005914780
Malignant tumor of esophagus	Likely benign	rs151156359, rs117411594	RCV005911003 RCV005902660
Melanoma	Likely benign	rs151156359, rs1302513384	RCV005911006 RCV005933269
Nonpapillary renal cell carcinoma	Likely benign	rs145855928	RCV005933639
Ovarian serous cystadenocarcinoma	Uncertain significance	rs747054677	RCV005917452
Thymoma	Likely benign	rs151156359	RCV005911005
Thyroid cancer, nonmedullary, 1	Likely benign	rs145855928	RCV005933640

Show/Hide Text Mining Associations (45)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Albinism Oculocutaneous	Associate	34246199
Angelman Syndrome	Associate	25476789, 32571899
Asthma	Associate	25918132
Astigmatism	Associate	30306274
Autism Spectrum Disorder	Associate	25476789
Carcinoma Non Small Cell Lung	Associate	27179511
Carcinoma Squamous Cell	Associate	28456133, 29995760
Chromosome 15q trisomy	Stimulate	29423132
Chromosome 3 monosomy 3p	Associate	39245076
Colitis Ulcerative	Associate	20176734
Color Vision Defects	Associate	18252222, 18483556, 23548203, 23555287
Death	Inhibit	27179511
Developmental Disabilities	Associate	25476789, 32571899
Ectodermal Dysplasia	Associate	31578829
Epidermal Nevus	Associate	35701387
Exotropia	Associate	39773702
Frontometaphyseal dysplasia	Associate	29995760
Glioma	Associate	37115922
Heredodegenerative Disorders Nervous System	Associate	32726574
Leukemia Prolymphocytic T Cell	Associate	29352181
Liposarcoma	Associate	33115433
Melanoma	Associate	18252222, 21926416, 24241239, 24392023, 35701387
Melanoma Cutaneous Malignant	Associate	27499155
Melanosis	Associate	39940926
Monosomy	Associate	34424336
Myopia	Associate	30306274
Neoplasms	Associate	24722987, 32726574, 39245076
Nervous System Diseases	Associate	25476789
Nevus	Associate	25410285
Non Muscle Invasive Bladder Neoplasms	Associate	39817975
Osteopetrosis lethal	Associate	32571899
Paroxysmal ventricular fibrillation	Associate	37239478
Photosensitivity Disorders	Associate	29974532
Pigmentation Disorders	Associate	22065085, 27499155, 28456133, 29974532, 33167923, 34424336, 36980970
Prader Willi Syndrome	Associate	11156619
Prostatic Neoplasms	Associate	21467234
Puberty Precocious	Associate	32400230
Retinal Diseases	Associate	25125603
Sarcoidosis	Associate	20650992
Skin Hair Eye Pigmentation Variation In 6	Associate	21712187, 22065085, 36980970
Skin Neoplasms	Associate	21712187, 28456133
Uniparental Disomy	Associate	34424336
Uveal melanoma	Associate	27499155, 39245076
Vitiligo	Associate	37239478
Xeroderma Pigmentosum	Associate	29995760

HERC2 (HECT and RLD domain containing E3 ubiquitin protein ligase 2)