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MAD2L2
HPA
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  • SUMMARY

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  • BRAIN

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  • STRUCT & INT

  • MAD2L2
STRUCTURE & INTERACTION STRUCTURE INTERACTION
Protein structures
Protein interactions
Human metabolism
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

MAD2L2
Synonyms FANCV, MAD2B, POLZ2, REV7
Gene descriptioni

Full gene name according to HGNC.

Mitotic arrest deficient 2 like 2
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Cancer-related genes
Disease related genes
Human disease related genes
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)

HUMAN PROTEIN ATLAS INFORMATIONi

Summary of RNA expression analysis and annotation data generated within the Human Protein Atlas project.

Single cell type
expression clusteri

The RNA data was used to cluster genes according to their expression across single cell types. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Late spermatids - Unknown function (mainly)
Single cell type specificityi

The RNA specificity category is based on mRNA expression levels in the analyzed cell types based on scRNA-seq data from normal tissues. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected.

Cell type enhanced (Early spermatids, Late spermatids)
Tissue expression
cluster (RNA)i

The RNA data was used to cluster genes according to their expression across tissues. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Testis - Basic cellular processes (mainly)
Tissue specificity (RNA)i

The RNA specificity category is based on mRNA expression levels in the consensus dataset which is calculated from the RNA expression levels in samples from HPA and GTEX. The categories include: tissue enriched, group enriched, tissue enhanced, low tissue specificity and not detected.

Low tissue specificity
Subcellular locationi

Main subcellular location based on data generated in the subcellular section of the Human Protein Atlas.

Localized to the Nucleoplasm
Secretome annotationi

All genes with at least one predicted secreted isoform have been annotated and classified with the aim to determine if the corresponding protein(s) are:

  • secreted into blood
  • locally secreted
  • or actually being attached to membrane or retained in intracellular locations like mitochondria, endoplasmatic reticulum (ER), Golgi apparatus or lysosomes.

Not available
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 1
Cytoband p36.22
Chromosome location (bp) 11658918 - 11691811
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

8
Ensembl ENSG00000116670 (version 109)
Entrez gene 10459
HGNC HGNC:6764
UniProt Q9UI95 (UniProt - Evidence at protein level)
neXtProt NX_Q9UI95
GeneCards MAD2L2
ASSAYSi

Links to data of the different assays available in the Structure & Interaction resource of the Human Protein Atlas. Click on the miniature images to directly get to the respective section.

Proteinstructure Interaction
PROTEIN BROWSERi

The Structure section provides in-house generated structures, predicted using the Alphafold source code, for the majority of the proteins and their related isoforms.

Displaying protein features on the AlphaFold structures

Individual splice variants can be selected in the top part of the Protein Browser (see below) and different transcript-related features such as transmembrane regions, InterPro domains and antigen sequences for antibodies can be displayed in the structure by clicking on the respective features in the Protein Browser.

Clinical and population-based amino acid variants based on data from the Ensembl variation database and AlphaMissense (AM) predictions can be highlighted using the sliders to the right of the structure. These can also be used to colour the entire structure by residue index or make the structure autorotate.The structures are displayed using the NGL Viewer and can also be zoomed-in and rotated manually.

The Protein Browser

The ProteinBrowser displays the antigen location on the target protein(s) and the features of the target protein. Transcript names and schematic transcript structures including exons, introns and UTRs for the different isoforms are shown on top, and can be used to switch between the structures for the different splice variants.

At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.

Below the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).

The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).

Signal peptides (turquoise) and membrane regions (orange) based on predictions using the majority decision methods MDM and MDSEC are also displayed.

Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
MAD2L2-201
MAD2L2-204
MAD2L2-205
MAD2L2-206
MAD2L2-207
MAD2L2-208
MAD2L2-209
MAD2L2-212

Description:

Color scheme:
Confidence
Residue index
Your selection
Variants:
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Population
Clinical
Alphamissense variants:
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Benign
Pathogenic
Autorotate:
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PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
MAD2L2-201
Q9UI95
Show all
A0A024R4I4
Show all
Predicted intracellular proteins
Cancer-related genes
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
211 aa
24.3 kDa
No 0
MAD2L2-204
Q9UI95
Show all
A0A024R4I4
Show all
Predicted intracellular proteins
Cancer-related genes
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
211 aa
24.3 kDa
No 0
MAD2L2-205
B1AK44
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
224 aa
25.7 kDa
No 0
MAD2L2-206
B1AK44
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
224 aa
25.7 kDa
No 0
MAD2L2-207
Q9UI95
Show all
A0A024R4I4
Show all
Predicted intracellular proteins
Cancer-related genes
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
211 aa
24.3 kDa
No 0
MAD2L2-208
B1AK43
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
197 aa
21.8 kDa
No 0
MAD2L2-209
B1AK45
A0A024R4I4
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
211 aa
24.3 kDa
No 0
MAD2L2-212
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
176 aa
20.2 kDa
No 0
Show allShow less
INTERACTIONi

In the Interaction part of this page network plots showing the gene's interaction partners according to four different datasets are displayed, including a consensus network plot showing only interactions present in at least two of the datasets. In the network plots the nodes represent genes and edge color represent the number of datasets the interaction belongs to.

The highlight bar in the top of the plot can be used to color the nodes according to subcellular location (based on data in the Subcellular section), predicted location (based on signalpeptide and transmembrane region predictions), tissue specificity (based on RNA tissue expression profiles) or proteinclass. For genes categorised as single cell type or group specific the option to highlight interaction partners expressed in the same cell type will also be available in the highlight bar.

Custom highlighting of nodes is possible using the top left Filter option in which a query of choice can be built to for example label all nodes that are tissue enriched in both human and mouse brain or those that belongs to a certain tissue expression cluster. The expression cluster for the gene is stated in the box Human Protein Atlas Information above the network plot. Click on Filter in the top left in the plot to find the query builder and some example queries.

Interactions included are direct interaction and physical associations with high and medium confidence from IntAct, physical multivalidated interactions from BioGRID, interactions with>75% probability from BioPlex and significant physical interactions from OpenCell.

Filter menu »
Fields »
e.g. Brain enriched, Localized to mitochondria, Testis - Basic cellular processes

Field
Term
Gene name
Class
Subclass
Class
Keyword
Chromosome
External id
Tissue
Cell type
Expression
Antibody panel
Tissue
Main location
Patient ID
Annotation
Tissue
Category
Tau score
Cluster
Reliability
Brain region
Category
Tau score
Brain region
Category
Tau score
Brain region
Category
Tau score
Cluster
Reliability
Tissue
Cell type
Enrichment
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell lineage
Category
Tau score
Cluster
Cluster
Location
Searches
Location
Cell line
Class
Type
Phase
Reliability
Cancer
Prognosis
Cancer
Category
Cancer
Category
Tau score
Cluster
Variants
Interacting gene (ensg_id)
Type
Number of interactions
Pathway
Category
Score
Score
Score
Validation
Validation
Validation
Validation
Antibodies
Data type
Column


Consensus
IntAct
BioGrid
OpenCell
BioPlex
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 7
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
ADAM9246024
CDC201897899
CHAMP1211462
FZR111710450
REV1331000
REV3L12300
TRIP1311721806
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 32 View all protein interaction data in IntAct
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
ADAM9246024
C20orf85019000
CAMK2B420900
CDC201897899
CHAMP1211462
FAM217B016003
FZR111710450
GSC2046000
IKZF16503400
IKZF341312200
INCA192051000
KCTD9477804
KRT342201200
MBD3L17291109
PLAGL2036000
PRR5L013400
RAB11FIP401400
REL121432555
REV1331000
REV3L12300
SHLD301000
TCF4171274500
THAP6013002
TRIM27182335900
TRIM542151700
TRIM71191100
TRIP1311721806
ZBED1435800
ZMYND12066000
ZNF511112100
ZNF558110101
ZNF6552117350
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 145
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
ADAM9246024
AFG3L2012201
ALDH18A1041380
ATAD100203
ATP2A2244100
ATP5F1A9866211
CBX1292662792
CBX31825114132
CBX5295986924
CDC201897899
CDH19355527
CHAF1A162240611
CHAMP1211462
CLTA306491200
CLTC12139260
CPVL10101110
DDX566521137
DHX37109916
DNAJA3493400
DNAJC117320110
DPY303182480
DYNC1H1153758331
EEF1A11312114411
EHMT29285400
EIF2S161019211
EIF2S251521290
EIF4A113740402
ELK1381100
EPPK1201226
ERLIN19121798
ERLIN28543103
FAM120A9238150
FARSA241211
FARSB13711
FZR111710450
GEMIN41129301220
GTF2I224720
GTF3C1232030
GTF3C324220011
GTF3C5361540
HELLS222610
HLA-C8723075
HSP90AA15156349230
HSPD120371251145
IFNGR1261114
IGF2BP310360370
IMMT8115720
INTS171221024
IPO8121121726
ITPR201502
KIF18B11920
KIF2A6417130
LARS1922378
LAS1L3023250
MAD2L1111235311
MAIP103200
MCU22416
MLLT1102300
MSH2785563
MSH3331700
NCAPD3131218
NDUFA10018111
NDUFA911935037
NOP56133126618
NOP589348172
NPTN20420
NSUN23123112
NT5DC200600
NTPCR021103
NUP18830732
ORC3551100
ORC5441100
OTUD5001300
PDS5B791650
PEG10671603
PES16434110
PHGDH2129250
PI4KA2011619
PKP2542640
POGZ75819120
POLD2451007
POLD3339118
POLR1A1454297
PON211620
PRCC02401
PURA2114029
PURB066021
RAD219104677
RAD23B7164602
RAI1119150
RAN3188726611
RBBP73517110735
REV1331000
REV3L12300
RFC1444000
RPL117491301360
RPL13A3226736117
RPL144361034198
RPL2335871712
RPL267239013
RPL385351380
RPL7175103327
RPL7L111218740
RPN233396602
RPS13285993727
RPS273651013
RPS3A375120052
RPS713483522
RRP12403060
SENP39830159
SHLD116300
SHLD211300
SIM201400
SLC25A1001200
SLC25A11081902
SLC25A13111808
SLC25A3002300
SLC25A631216059
SLC3A2523750
SMC1A1714662311
SMC2453250
SMC310106945
SNRPD12911573011
SPATA500430
SRPRA20172114
SRPRB71192815
SSR44013320
STAG21092590
SUPT7L412270
TAF5L932085
TAF6L12421622
TCF7L2472400
TIMM50331810
TMEM92116081
TOMM4092361126
TP53BP112716520
TRIP1311721806
TRRAP31767330
UQCRC2264101
UTP14A515241110
VDAC191576222
YY1AP134500
ZMYM4431980
ZNF2412302208
ZNF644301682
Show allShow less
MAD2L2 has no defined protein interactions in OpenCell.
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 2
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
FAM174A0310098
ZNF42822206
METABOLIC SUMMARYi

In this summary the pathway/subsystems to which the gene belongs is shown together with the associated cellular compartment for the reactions based on metabolite information. The number of proteins and metabolites in the pathway is shown as well as the number of reactions for the selected gene. By clicking on a pathway in the summary table the associated metabolic network map is shown, together with a gene-tissue heatmap that shows the expression of genes in that pathway in different tissues.

MAD2L2 is not a metabolic protein

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