MAD2L2

Functionⁱ

Adapter protein able to interact with different proteins and involved in different biological processes (PubMed:11459825, PubMed:11459826, PubMed:17719540, PubMed:17296730, PubMed:19443654, PubMed:29656893). Mediates the interaction between the error-prone DNA polymerase zeta catalytic subunit REV3L and the inserter polymerase REV1, thereby mediating the second polymerase switching in translesion DNA synthesis (PubMed:20164194). Translesion DNA synthesis releases the replication blockade of replicative polymerases, stalled in presence of DNA lesions (PubMed:20164194). Component of the shieldin complex, which plays an important role in repair of DNA double-stranded breaks (DSBs) (PubMed:29656893). During G1 and S phase of the cell cycle, the complex functions downstream of TP53BP1 to promote non-homologous end joining (NHEJ) and suppress DNA end resection (PubMed:29656893). Mediates various NHEJ-dependent processes including immunoglobulin class-switch recombination, and fusion of unprotected telomeres (PubMed:29656893). May also regulate another aspect of cellular response to DNA damage through regulation of the JNK-mediated phosphorylation and activation of the transcriptional activator ELK1 (PubMed:17296730). Inhibits the FZR1- and probably CDC20-mediated activation of the anaphase promoting complex APC thereby regulating progression through the cell cycle (PubMed:11459825, PubMed:17719540). Regulates TCF7L2-mediated gene transcription and may play a role in epithelial-mesenchymal transdifferentiation (PubMed:19443654).7 Publications

GO - Molecular functionⁱ

JUN kinase binding
Source: UniProtKB
Inferred from direct assayⁱ
- 17296730
RNA polymerase II activating transcription factor binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- 19443654

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

actin filament organization
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 19443654
cell division Source: UniProtKB-KW
DNA damage response, signal transduction resulting in transcription
Source: UniProtKB
Inferred from direct assayⁱ
- 17296730
double-strand break repair
Source: UniProtKB
Inferred from genetic interactionⁱ
- 15988022
error-prone translesion synthesis Source: Reactome
mitotic spindle assembly checkpoint
Source: ProtInc
Traceable author statementⁱ
- 10366450
negative regulation of canonical Wnt signaling pathway
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 19443654
negative regulation of cell-cell adhesion mediated by cadherin
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 19443654
negative regulation of DNA-binding transcription factor activity
Source: BHF-UCL
Inferred from direct assayⁱ
- 19443654
negative regulation of double-strand break repair via homologous recombination
Source: UniProtKB
Inferred from direct assayⁱ
- 29656893
negative regulation of epithelial to mesenchymal transition
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 19443654
negative regulation of protein catabolic process
Source: UniProtKB
Inferred from direct assayⁱ
- 11459826
negative regulation of transcription by competitive promoter binding
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 19443654
negative regulation of transcription by RNA polymerase II
Source: BHF-UCL
Inferred from direct assayⁱ
- 19443654
negative regulation of transcription regulatory region DNA binding
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 19443654
negative regulation of ubiquitin protein ligase activity
Source: UniProtKB
Inferred from direct assayⁱ
- 11459826
positive regulation of double-strand break repair via nonhomologous end joining
Source: UniProtKB
Inferred from direct assayⁱ
- 29656893
positive regulation of isotype switching
Source: UniProtKB
Inferred from direct assayⁱ
- 29656893
positive regulation of peptidyl-serine phosphorylation
Source: UniProtKB
Inferred from direct assayⁱ
- 17296730
positive regulation of transcription, DNA-templated
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 17296730
regulation of cell growth
Source: UniProtKB
Inferred from genetic interactionⁱ
- 15988022

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	Cell cycle, Cell division, DNA damage, DNA repair, Mitosis, Transcription, Transcription regulation

Biological process

Cell cycle, Cell division, DNA damage, DNA repair, Mitosis, Transcription, Transcription regulation

Enzyme and pathway databases

Reactomeⁱ	R-HSA-110312 Translesion synthesis by REV1 R-HSA-5655862 Translesion synthesis by POLK R-HSA-5656121 Translesion synthesis by POLI
SIGNORⁱ	Q9UI95

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Mitotic spindle assembly checkpoint protein MAD2B Alternative name(s): Mitotic arrest deficient 2-like protein 2 Short name: MAD2-like protein 2 REV7 homolog Short name: hREV7
Gene namesⁱ	Name:MAD2L2 Synonyms:MAD2B, REV7
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 1

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000116670.14
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:6764 MAD2L2
MIMⁱ	604094 gene
neXtProtⁱ	NX_Q9UI95

Keywords - Cellular componentⁱ

Chromosome, Cytoplasm, Cytoskeleton, Nucleus

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Fanconi anemia, complementation group V (FANCV)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.

Mutagenesis

Feature key	Position(s)	DescriptionActions	Length
Mutagenesisⁱ	63	Y → A: Alters interaction with REV3L. Loss of interaction with REV3L; when associated with A-171. 1 Publication	1
Mutagenesisⁱ	124	R → A: Induces structural changes that increase affinity for REV3L and REV1. No effect on interaction with REV1; when associated with A-171. 1 Publication	1
Mutagenesisⁱ	171	W → A: Alters interaction with REV3L and REV1. Loss of interaction with REV3L; when associated with A-63. No effect on interaction with REV1; when associated with A-124. 1 Publication	1
Mutagenesisⁱ	186	L → A: Significantly prevents interaction with REV1; no effect on interaction with REV3L. 1 Publication	1
Mutagenesisⁱ	200	Q → A: Significantly prevents interaction with REV1; no effect on interaction with REV3L. 1 Publication	1
Mutagenesisⁱ	202	Y → A: Significantly prevents interaction with REV1; no effect on interaction with REV3L. 1 Publication	1

Keywords - Diseaseⁱ

Disease mutation, Fanconi anemia

Organism-specific databases

DisGeNET More...DisGeNETⁱ	10459
MalaCards human disease database More...MalaCardsⁱ	MAD2L2
MIMⁱ	617243 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000116670
Orphanetⁱ	84 Fanconi anemia
PharmGKBⁱ	PA398

Polymorphism and mutation databases

BioMutaⁱ	MAD2L2

BioMutaⁱ

MAD2L2

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000126119	1 – 211	Mitotic spindle assembly checkpoint protein MAD2BAdd BLAST		211

Proteomic databases

EPDⁱ	Q9UI95
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q9UI95
PaxDbⁱ	Q9UI95
PeptideAtlas More...PeptideAtlasⁱ	Q9UI95
PRIDEⁱ	Q9UI95
ProteomicsDBⁱ	84481
TopDownProteomicsⁱ	Q9UI95

PTM databases

iPTMnetⁱ	Q9UI95
PhosphoSitePlusⁱ	Q9UI95

Expressionⁱ

Tissue specificityⁱ

Ubiquitously expressed.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000116670 Expressed in 182 organ(s), highest expression level in testis
CleanExⁱ	HS_MAD2L2
ExpressionAtlasⁱ	Q9UI95 baseline and differential
Genevisibleⁱ	Q9UI95 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	CAB008110 HPA024176

HPAⁱ

CAB008110
HPA024176

Interactionⁱ

Subunit structureⁱ

Homooligomer (Probable). Heterodimer with REV3L (PubMed:10660610, PubMed:11485998). This dimer forms the minimal DNA polymerase zeta complex (Pol-zeta2), with REV3L bearing DNA polymerase catalytic activity, although its activity is very low in this context (PubMed:11485998). Component of the tetrameric Pol-zeta complex (Pol-zeta4), which consists of REV3L, MAD2L2, POLD2 and POLD3; Pol-zeta4 is the fully active form of DNA polymerase zeta (PubMed:24449906). Component of the shieldin complex, consisting of SHLD1, SHLD2, SHLD3 and MAD2L2/REV7 (PubMed:29656893, PubMed:29789392). Within the complex, SHLD2 forms a scaffold which interacts with a SHLD3-MAD2L2 subcomplex via its N-terminus, and with SHLD1 via its C-terminus (PubMed:29656893). Interacts with REV1 (PubMed:11485998, PubMed:20164194). Interacts with ADAM9 (PubMed:10527948). Interacts with CHAMP1 (PubMed:21063390). Interacts with FZR1 (in complex with the anaphase promoting complex APC) (PubMed:11459825, PubMed:11459826). Interacts with CDC20; PubMed:11459825 could not detect the interaction (PubMed:11459826). Interacts with RAN (PubMed:19753112). Interacts with ELK1; the interaction is direct and recruits MAD2L2 to ELK1-specific promoters (PubMed:17296730). May interact with the JNK kinases MAPK8 and/or MAPK9 to stimulate ELK1 phosphorylation and transcriptional activity upon DNA damage (PubMed:17296730). Interacts with TCF7L2; prevents its binding to promoters and negatively modulates its transcriptional activity (PubMed:19443654). Interacts with YY1AP1 (PubMed:17541814). Interacts with S.flexneri protein ipaB; prevents the interaction of MAD2L2 with FZR1 and CDC20 resulting in an activation of the anaphase-promoting complex APC and a cell cycle arrest (PubMed:17719540). Interacts with PRCC; the interaction is direct (PubMed:11717438). Interacts with POGZ (PubMed:20850016).Curated17 Publications

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
ADAM9	Q13443	3	EBI-77889,EBI-77903
CAMK2B	Q13554	3	EBI-77889,EBI-1058722
CDC20	Q12834	2	EBI-77889,EBI-367462
CDC27	P30260	2	EBI-77889,EBI-994813
CHAMP1	Q96JM3	5	EBI-77889,EBI-2560420
FZR1	Q9UM11	2	EBI-77889,EBI-724997
IKZF1	Q13422	3	EBI-77889,EBI-745305
ipaB	P18011	7	EBI-77889,EBI-490239	From Shigella flexneri.
KCTD9	Q7L273	3	EBI-77889,EBI-4397613
REL	Q04864	3	EBI-77889,EBI-307352
REV3L	O60673	5	EBI-77889,EBI-2871302
SFI1	A8K8P3-4	3	EBI-77889,EBI-10321817
SHLD3	Q6ZNX1	7	EBI-77889,EBI-20209073
TCF4	P15884	3	EBI-77889,EBI-533224
TRIM27	P14373	3	EBI-77889,EBI-719493

GO - Molecular functionⁱ

JUN kinase binding
Source: UniProtKB
Inferred from direct assayⁱ
- 17296730
RNA polymerase II activating transcription factor binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- 19443654

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	115722, 67 interactors
ComplexPortalⁱ	CPX-3481 Shieldin complex
CORUMⁱ	Q9UI95
IntActⁱ	Q9UI95, 142 interactors
Molecular INTeraction database More...MINTⁱ	Q9UI95
STRINGⁱ	9606.ENSP00000235310

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	6 – 8	Combined sources	3
Helixⁱ	10 – 12	Combined sources	3
Helixⁱ	13 – 33	Combined sources	21
Helixⁱ	39 – 41	Combined sources	3
Beta strandⁱ	42 – 47	Combined sources	6
Beta strandⁱ	50 – 55	Combined sources	6
Helixⁱ	58 – 76	Combined sources	19
Beta strandⁱ	80 – 88	Combined sources	9
Beta strandⁱ	90 – 92	Combined sources	3
Beta strandⁱ	94 – 103	Combined sources	10
Turnⁱ	106 – 111	Combined sources	6
Turnⁱ	115 – 118	Combined sources	4
Helixⁱ	119 – 131	Combined sources	13
Helixⁱ	133 – 135	Combined sources	3
Beta strandⁱ	145 – 155	Combined sources	11
Beta strandⁱ	162 – 166	Combined sources	5
Beta strandⁱ	169 – 173	Combined sources	5
Helixⁱ	176 – 179	Combined sources	4
Beta strandⁱ	185 – 196	Combined sources	12
Beta strandⁱ	198 – 205	Combined sources	8

Show more details

3D structure databases

ProteinModelPortalⁱ	Q9UI95
SMRⁱ	Q9UI95
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ	Q9UI95

EvolutionaryTraceⁱ

Q9UI95

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Domainⁱ	13 – 203	HORMAPROSITE-ProRule annotationAdd BLAST		191

Region

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Regionⁱ	21 – 155	Mediates interaction with REV1 and REV3L and homodimerizationAdd BLAST		135
Regionⁱ	150 – 211	Mediates interaction with ipaBAdd BLAST		62

Phylogenomic databases

eggNOGⁱ	KOG3186 Eukaryota ENOG4111I7Q LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00500000044946
HOGENOMⁱ	HOG000231083
HOVERGENⁱ	HBG052443
InParanoidⁱ	Q9UI95
KEGG Orthology (KO) More...KOⁱ	K13728
PhylomeDBⁱ	Q9UI95
TreeFamⁱ	TF101085

Family and domain databases

Gene3Dⁱ	3.30.900.10, 1 hit
InterProⁱ	View protein in InterPro IPR003511 HORMA_dom IPR036570 HORMA_dom_sf
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF02301 HORMA, 1 hit
SUPFAMⁱ	SSF56019 SSF56019, 1 hit
PROSITEⁱ	View protein in PROSITE PS50815 HORMA, 1 hit

Sequence (1+)ⁱ

Sequence statusⁱ: Complete.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show all Align All

Q9UI95-1 [UniParc]FASTA Add to basket

« Hide

        10         20         30         40         50
MTTLTRQDLN FGQVVADVLC EFLEVAVHLI LYVREVYPVG IFQKRKKYNV 
        60         70         80         90        100
PVQMSCHPEL NQYIQDTLHC VKPLLEKNDV EKVVVVILDK EHRPVEKFVF 
       110        120        130        140        150
EITQPPLLSI SSDSLLSHVE QLLRAFILKI SVCDAVLDHN PPGCTFTVLV 
       160        170        180        190        200
HTREAATRNM EKIQVIKDFP WILADEQDVH MHDPRLIPLK TMTSDILKMQ 
       210 
LYVEERAHKG S

Length:211

Mass (Da):24,334

Last modified:January 11, 2001 - v2

Checksum:ⁱ1DE6353EF7D650B9

GO

Computationally mapped potential isoform sequencesⁱ

There are 3 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

B1AK44	B1AK44_HUMAN	Mitotic spindle assembly checkpoint... Mitotic spindle assembly checkpoint protein MAD2B	MAD2L2	224	Annotation score:
B1AK45	B1AK45_HUMAN	Mitotic spindle assembly checkpoint... Mitotic spindle assembly checkpoint protein MAD2B	MAD2L2	167	Annotation score:
B1AK43	B1AK43_HUMAN	Mitotic spindle assembly checkpoint... Mitotic spindle assembly checkpoint protein MAD2B	MAD2L2	197	Annotation score:

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	17	D → A in AAD30290 (PubMed:10366450).Curated	1
Sequence conflictⁱ	96	E → D in AAF20267 (Ref. 2) Curated	1
Sequence conflictⁱ	199	M → V in AAF20267 (Ref. 2) Curated	1

Natural variant

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_077981	85	V → E in FANCV; drastically reduced protein abundance. 1 PublicationCorresponds to variant dbSNP:rs1057517674Ensembl.		1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF072933 mRNA Translation: AAD41647.1 AF080398 mRNA Translation: AAF20267.1 AF139365 mRNA Translation: AAD30290.1 AF157482 mRNA Translation: AAF34357.1 AK027327 mRNA Translation: BAG51305.1 AK094316 mRNA Translation: BAG52858.1 DQ017900 Genomic DNA Translation: AAY26393.1 AL031731 Genomic DNA No translation available. CH471130 Genomic DNA Translation: EAW71697.1 BC015244 mRNA Translation: AAH15244.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS134.1
NCBI Reference Sequences More...RefSeqⁱ	NP_001120797.1, NM_001127325.1 NP_006332.3, NM_006341.3 XP_011538809.1, XM_011540507.1
UniGeneⁱ	Hs.19400

Genome annotation databases

Ensemblⁱ	ENST00000235310; ENSP00000235310; ENSG00000116670 ENST00000376667; ENSP00000365855; ENSG00000116670 ENST00000376692; ENSP00000365882; ENSG00000116670
GeneIDⁱ	10459
KEGGⁱ	hsa:10459
UCSC genome browser More...UCSCⁱ	uc001asp.4 human

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q9UI95	MAD2 mitotic arrest deficient-like 2 (Yeast), isoform CRA_a		HUMAN		211	UniRef100_Q9UI95
Mitotic spindle assembly checkpoint protein MAD2B		MACMU		211
Mitotic spindle assembly checkpoint protein MAD2B		CALJA		211
MAD2 mitotic arrest deficient-like 2		PANTR		211
Mitotic arrest deficient 2 like 2		GORGO		211
+10

Protein	Similar proteins		Species	Score	Length	Source
Q9UI95	MAD2 mitotic arrest deficient-like 2 (Yeast), isoform CRA_a		HUMAN		211	UniRef90_Q9UI95
Mitotic spindle assembly checkpoint protein MAD2B		MACMU		211
Mitotic spindle assembly checkpoint protein MAD2B		CALJA		211
MAD2 mitotic arrest deficient-like 2		PANTR		211
Mitotic arrest deficient 2 like 2		GORGO		211
+41

Protein	Similar proteins		Species	Score	Length	Source
Q9UI95	Mitotic spindle assembly checkpoint protein MAD2B		CHICK		211	UniRef50_Q9UI95
Mitotic spindle assembly checkpoint protein MAD2B	)	MOUSE		211
Mitotic spindle assembly checkpoint protein MAD2B		RAT		211
Mitotic spindle assembly checkpoint protein MAD2B		BOVIN		211
Mitotic spindle assembly checkpoint protein MAD2B		XENTR		211
+189

Cross-referencesⁱ

Web resourcesⁱ

NIEHS-SNPs

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF072933 mRNA Translation: AAD41647.1 AF080398 mRNA Translation: AAF20267.1 AF139365 mRNA Translation: AAD30290.1 AF157482 mRNA Translation: AAF34357.1 AK027327 mRNA Translation: BAG51305.1 AK094316 mRNA Translation: BAG52858.1 DQ017900 Genomic DNA Translation: AAY26393.1 AL031731 Genomic DNA No translation available. CH471130 Genomic DNA Translation: EAW71697.1 BC015244 mRNA Translation: AAH15244.1
CCDSⁱ	CCDS134.1
RefSeqⁱ	NP_001120797.1, NM_001127325.1 NP_006332.3, NM_006341.3 XP_011538809.1, XM_011540507.1
UniGeneⁱ	Hs.19400

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	3ABD	X-ray	1.90	A/B	1-211	[»]
	3ABE	X-ray	2.60	C	1-211	[»]
	3VU7	X-ray	2.80	C	1-211	[»]
	4EXT	X-ray	1.90	C	7-209	[»]
	4GK0	X-ray	2.70	A/B	1-211	[»]
	4GK5	X-ray	3.21	A/B	1-211	[»]
	5XPT	X-ray	2.10	A	1-211	[»]
	5XPU	X-ray	2.30	A	1-211	[»]
	6BC8	X-ray	1.68	A	1-211	[»]
	6BCD	X-ray	1.43	A	1-211	[»]
	6BI7	X-ray	2.80	A/C/E/G	1-211	[»]
ProteinModelPortalⁱ	Q9UI95
SMRⁱ	Q9UI95
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	115722, 67 interactors
ComplexPortalⁱ	CPX-3481 Shieldin complex
CORUMⁱ	Q9UI95
IntActⁱ	Q9UI95, 142 interactors
MINTⁱ	Q9UI95
STRINGⁱ	9606.ENSP00000235310

PTM databases

iPTMnetⁱ	Q9UI95
PhosphoSitePlusⁱ	Q9UI95

Polymorphism and mutation databases

BioMutaⁱ	MAD2L2

BioMutaⁱ

MAD2L2

Proteomic databases

EPDⁱ	Q9UI95
MaxQBⁱ	Q9UI95
PaxDbⁱ	Q9UI95
PeptideAtlasⁱ	Q9UI95
PRIDEⁱ	Q9UI95
ProteomicsDBⁱ	84481
TopDownProteomicsⁱ	Q9UI95

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	10459
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000235310; ENSP00000235310; ENSG00000116670 ENST00000376667; ENSP00000365855; ENSG00000116670 ENST00000376692; ENSP00000365882; ENSG00000116670
GeneIDⁱ	10459
KEGGⁱ	hsa:10459
UCSCⁱ	uc001asp.4 human

Organism-specific databases

CTDⁱ	10459
DisGeNETⁱ	10459
EuPathDBⁱ	HostDB:ENSG00000116670.14
GeneCardsⁱ	MAD2L2
HGNCⁱ	HGNC:6764 MAD2L2
HPAⁱ	CAB008110 HPA024176
MalaCardsⁱ	MAD2L2
MIMⁱ	604094 gene 617243 phenotype
neXtProtⁱ	NX_Q9UI95
OpenTargetsⁱ	ENSG00000116670
Orphanetⁱ	84 Fanconi anemia
PharmGKBⁱ	PA398
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3186 Eukaryota ENOG4111I7Q LUCA
GeneTreeⁱ	ENSGT00500000044946
HOGENOMⁱ	HOG000231083
HOVERGENⁱ	HBG052443
InParanoidⁱ	Q9UI95
KOⁱ	K13728
PhylomeDBⁱ	Q9UI95
TreeFamⁱ	TF101085

Enzyme and pathway databases

Reactomeⁱ	R-HSA-110312 Translesion synthesis by REV1 R-HSA-5655862 Translesion synthesis by POLK R-HSA-5656121 Translesion synthesis by POLI
SIGNORⁱ	Q9UI95

Miscellaneous databases

ChiTaRSⁱ	MAD2L2 human
EvolutionaryTraceⁱ	Q9UI95
GeneWikiⁱ	MAD2L2
GenomeRNAiⁱ	10459
Protein Ontology More...PROⁱ	PR:Q9UI95
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000116670 Expressed in 182 organ(s), highest expression level in testis
CleanExⁱ	HS_MAD2L2
ExpressionAtlasⁱ	Q9UI95 baseline and differential
Genevisibleⁱ	Q9UI95 HS

Family and domain databases

Gene3Dⁱ	3.30.900.10, 1 hit
InterProⁱ	View protein in InterPro IPR003511 HORMA_dom IPR036570 HORMA_dom_sf
Pfamⁱ	View protein in Pfam PF02301 HORMA, 1 hit
SUPFAMⁱ	SSF56019 SSF56019, 1 hit
PROSITEⁱ	View protein in PROSITE PS50815 HORMA, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	MD2L2_HUMAN
Accessionⁱ	Q9UI95Primary (citable) accession number: Q9UI95 Secondary accession number(s): B3KNE3 , Q5TGW7, Q9UNA7, Q9Y6I6
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	January 11, 2001
	Last sequence update:	January 11, 2001
	Last modified:	November 7, 2018
	This is version 159 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Reference proteome

Documents

Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
PDB cross-references
Index of Protein Data Bank (PDB) cross-references

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Supporting data

UniProtKB - Q9UI95 (MD2L2_HUMAN)

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Mitotic spindle assembly checkpoint protein MAD2B

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Nucleus

Cytoskeleton

Other locations

Cytoskeleton

Cytosol

Nucleus

Other locations

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

Miscellaneous databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Region

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Sequence databases

Genome annotation databases

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

UniProt is an ELIXIR core data resource

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ