Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
4221 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Menin 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
MEN1 |
SynonymsGene synonyms aliases
|
MEAI, SCG2 |
ChromosomeChromosome number
|
11 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
11q13.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
This gene encodes menin, a tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. Menin is a scaffold protein that functions in histone modification and epigenetic gene regulation. It is thought to regulate several pathw |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs607969 |
C>G,T |
Benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
rs28931612 |
C>A,T |
Pathogenic, uncertain-significance, likely-pathogenic |
Coding sequence variant, stop gained, missense variant |
rs77461664 |
G>A,C,T |
Uncertain-significance, benign, likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
rs104894256 |
A>C |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
rs104894257 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, intron variant |
rs104894258 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, intron variant |
rs104894262 |
A>T |
Pathogenic |
Splice donor variant, coding sequence variant, missense variant |
rs104894263 |
G>C |
Pathogenic |
Missense variant, coding sequence variant |
rs104894265 |
G>A,T |
Pathogenic, likely-benign |
Stop gained, coding sequence variant, synonymous variant |
rs104894266 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs104894268 |
C>G,T |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant |
rs121913034 |
T>A,G |
Uncertain-significance, pathogenic |
Coding sequence variant, stop gained, missense variant |
rs143329068 |
G>A,C |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
rs267607234 |
CC>TT |
Pathogenic |
Coding sequence variant, missense variant |
rs371192390 |
C>A |
Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign |
Synonymous variant, coding sequence variant |
rs374749001 |
G>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
5 prime UTR variant |
rs376872829 |
C>A,G,T |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
rs386134245 |
->A |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs386134246 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs386134247 |
C>-,CC |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
rs386134250 |
T>A,C,G |
Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic |
Missense variant, initiator codon variant |
rs386134251 |
GG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs386134253 |
->A,AA |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
rs386134254 |
G>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs386134255 |
->AATT |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs386134256 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
rs386134258 |
CCCGCTCA>- |
Likely-pathogenic |
Coding sequence variant, splice donor variant, intron variant |
rs386134259 |
G>A,C,T |
Uncertain-significance, likely-pathogenic |
Missense variant, stop gained, coding sequence variant |
rs386134260 |
G>C |
Pathogenic, not-provided |
Stop gained, coding sequence variant |
rs386134261 |
->A |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs397515385 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs398124437 |
C>G,T |
Pathogenic, likely-pathogenic |
Splice donor variant |
rs587776841 |
ACAG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs730882136 |
->GGGGC |
Pathogenic |
Coding sequence variant, frameshift variant |
rs747851909 |
C>A |
Pathogenic |
Coding sequence variant, missense variant |
rs750904332 |
G>A,C,T |
Pathogenic |
Stop gained, synonymous variant, coding sequence variant |
rs767078097 |
G>A,C |
Pathogenic |
Coding sequence variant, stop gained, synonymous variant |
rs772588551 |
C>A,T |
Pathogenic |
Coding sequence variant, stop gained, missense variant |
rs778670301 |
C>G,T |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant, synonymous variant |
rs778921501 |
G>A,T |
Pathogenic |
Stop gained, coding sequence variant, synonymous variant |
rs786204242 |
C>T |
Pathogenic-likely-pathogenic |
Missense variant, initiator codon variant |
rs794728614 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs794728615 |
G>A,C |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
rs794728616 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs794728618 |
T>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs794728622 |
C>A,T |
Pathogenic |
Splice donor variant, intron variant |
rs794728624 |
C>T |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
rs794728625 |
C>T |
Pathogenic |
Intron variant |
rs794728627 |
G>A,C |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs794728636 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
rs794728637 |
CCAGCTCGGC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs794728638 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
rs794728639 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs794728640 |
TCTG>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant |
rs794728641 |
AGATGTGT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs794728647 |
G>A,C |
Pathogenic, uncertain-significance |
Stop gained, missense variant, coding sequence variant |
rs794728648 |
C>A,T |
Pathogenic, uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
rs794728650 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
rs794728652 |
C>A,G,T |
Pathogenic, likely-pathogenic |
Splice donor variant |
rs794728655 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs794728656 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
rs794728657 |
TTC>- |
Pathogenic |
Inframe deletion, coding sequence variant |
rs794728658 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs869025185 |
CCT>- |
Pathogenic |
Inframe deletion, coding sequence variant |
rs869312167 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs878855191 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs878855192 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
rs878855196 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant |
rs886039413 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs886039414 |
C>A,T |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant, stop gained |
rs886039415 |
A>G |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
rs886039416 |
G>A,C |
Pathogenic, uncertain-significance |
Stop gained, missense variant, coding sequence variant |
rs886039553 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs886041213 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
rs886041634 |
GC>A |
Pathogenic |
Frameshift variant, coding sequence variant |
rs886042035 |
T>C,G |
Pathogenic, likely-pathogenic |
Splice acceptor variant |
rs1057517760 |
->TGC |
Likely-pathogenic |
Inframe insertion, coding sequence variant |
rs1057517902 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1057518572 |
C>T |
Pathogenic, likely-pathogenic |
Splice acceptor variant |
rs1057518903 |
C>- |
Pathogenic |
Intron variant, coding sequence variant, splice donor variant |
rs1057520733 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1057521110 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1057524571 |
A>C |
Likely-pathogenic |
Splice donor variant |
rs1060499971 |
CTC>- |
Conflicting-interpretations-of-pathogenicity |
Inframe deletion, coding sequence variant |
rs1060499973 |
G>A,T |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
rs1060499976 |
C>A,G,T |
Pathogenic, likely-pathogenic |
Splice donor variant |
rs1060499984 |
G>A,C |
Pathogenic, uncertain-significance |
Missense variant, stop gained, coding sequence variant |
rs1060499987 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
rs1060499990 |
G>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1060499992 |
C>A,T |
Pathogenic |
Missense variant, stop gained, coding sequence variant |
rs1060503789 |
G>A,T |
Likely-benign, pathogenic |
Stop gained, coding sequence variant, synonymous variant |
rs1064792906 |
TGAAGCGGGCATAGAGGGCGG>- |
Uncertain-significance, likely-pathogenic |
Inframe deletion, coding sequence variant |
rs1064793167 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1064793169 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1064793398 |
C>T |
Likely-pathogenic |
Intron variant |
rs1064793613 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1064793672 |
C>G,T |
Pathogenic |
Splice acceptor variant |
rs1064795635 |
C>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1085307471 |
C>G,T |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
rs1085307971 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1114167469 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
rs1114167470 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1114167471 |
A>C,G |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
rs1114167472 |
T>C |
Pathogenic |
Splice acceptor variant |
rs1114167473 |
C>G,T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1114167474 |
C>T |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
rs1114167478 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1114167480 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1114167481 |
GAAG>AAT |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1114167482 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
rs1114167483 |
->CGCAC |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1114167485 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1114167486 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1114167488 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1114167489 |
C>G,T |
Pathogenic, likely-pathogenic |
Splice donor variant |
rs1114167490 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1114167491 |
C>T |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
rs1114167492 |
C>- |
Pathogenic |
Stop gained, coding sequence variant |
rs1114167493 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1114167494 |
C>A |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
rs1114167495 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1114167498 |
T>C |
Pathogenic, likely-pathogenic |
Splice acceptor variant |
rs1114167499 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1114167502 |
A>G |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
rs1114167503 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1114167505 |
C>T |
Likely-pathogenic |
Splice acceptor variant |
rs1114167506 |
C>AA |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1114167508 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1114167511 |
GA>TT |
Pathogenic |
Stop gained, coding sequence variant |
rs1114167515 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
rs1114167516 |
GGGC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1114167519 |
->CATG |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1114167523 |
CG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1114167527 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
rs1114167532 |
GTTGATGG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1114167534 |
->CACC |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1114167538 |
G>- |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant |
rs1114167540 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1114167541 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1114167543 |
A>C |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
rs1187634059 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs1555164707 |
G>T |
Pathogenic |
Coding sequence variant, missense variant |
rs1555164946 |
A>G |
Likely-pathogenic |
Splice donor variant |
rs1555164986 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1555165008 |
CCCGCACATTGCGGTTGCGACAGTGG>- |
Likely-pathogenic |
Coding sequence variant, inframe indel, stop gained |
rs1555165128 |
A>C |
Pathogenic |
Coding sequence variant, stop gained |
rs1555165256 |
A>G |
Pathogenic |
Splice donor variant |
rs1555165360 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1555165377 |
C>G |
Pathogenic, likely-pathogenic |
Splice acceptor variant |
rs1555165488 |
->AGCTCCA |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1555165503 |
TCAATGG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1555165565 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1555165570 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1555165597 |
G>C,T |
Pathogenic |
Coding sequence variant, stop gained |
rs1555165756 |
GG>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant |
rs1555166365 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
rs1555166368 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1555166387 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1555166435 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1555166466 |
TA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1555166494 |
->CGGTG |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1555166508 |
ATGATAGACAGGTCG>- |
Likely-pathogenic |
Coding sequence variant, inframe deletion |
rs1555166567 |
G>C |
Pathogenic |
Coding sequence variant, stop gained |
rs1555166609 |
->GCTGG |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1555166681 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1555166695 |
AGGAAAGGAGCACCA>-,AGGAAAGGAGCACCAAGGAAAGGAGCACCA |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, inframe deletion, inframe insertion |
rs1555166711 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1565642765 |
T>A,C |
Pathogenic |
Splice acceptor variant |
rs1565644366 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
rs1565645563 |
G>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1565646772 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1565647197 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
rs1565647767 |
G>A |
Pathogenic |
Coding sequence variant, intron variant, stop gained |
rs1565648511 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs1565648656 |
C>G |
Pathogenic |
Coding sequence variant, missense variant |
rs1565651223 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1565651568 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1565652689 |
C>A,G |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
rs1592640081 |
->GC |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1592640181 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1592640213 |
GCAGGTTGGGGATGACATCATTGGCTACTTCA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1592643178 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs1592646211 |
C>T |
Likely-pathogenic, uncertain-significance |
Synonymous variant, coding sequence variant |
rs1592646226 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1592646831 |
GTACC>AACCTCTAGGTA |
Pathogenic |
Coding sequence variant, splice acceptor variant |
rs1592647398 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
rs1592648765 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1592648830 |
->TGCA |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1592649069 |
AC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1592649108 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1592649598 |
AGCTCTTAGGGGGGGATGA>- |
Likely-pathogenic |
Intron variant, coding sequence variant, splice acceptor variant |
rs1592649615 |
C>G,T |
Pathogenic |
Splice acceptor variant |
rs1592650986 |
T>- |
Pathogenic |
Intron variant, frameshift variant, coding sequence variant |
rs1592651767 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
rs1592657785 |
GGGCCCGATC>AGGGA |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1592658517 |
->GGGA |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1592659414 |
GC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1592660057 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1592660101 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1592660983 |
->GC |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1592661082 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000122 |
Process |
Negative regulation of transcription by RNA polymerase II |
IDA |
9989505, 12837246, 23784080 |
GO:0000165 |
Process |
MAPK cascade |
IDA |
12226747 |
GO:0000400 |
Function |
Four-way junction DNA binding |
IDA |
15331604 |
GO:0000403 |
Function |
Y-form DNA binding |
IBA |
21873635 |
GO:0000403 |
Function |
Y-form DNA binding |
IDA |
15331604 |
GO:0000781 |
Component |
Chromosome, telomeric region |
ISS |
|
GO:0000785 |
Component |
Chromatin |
IBA |
21873635 |
GO:0000785 |
Component |
Chromatin |
IDA |
12837246, 12874027 |
GO:0000976 |
Function |
Transcription regulatory region sequence-specific DNA binding |
IBA |
21873635 |
GO:0000976 |
Function |
Transcription regulatory region sequence-specific DNA binding |
IDA |
20484083 |
GO:0001933 |
Process |
Negative regulation of protein phosphorylation |
IDA |
12226747 |
GO:0002076 |
Process |
Osteoblast development |
IGI |
15563473 |
GO:0003682 |
Function |
Chromatin binding |
IBA |
21873635 |
GO:0003690 |
Function |
Double-stranded DNA binding |
IDA |
15331604 |
GO:0005515 |
Function |
Protein binding |
IPI |
9989505, 11500056, 11526476, 12509449, 12874027, 14508515, 14992727, 15199122, 15960975, 16951149, 20484083, 20969866, 22936661, 23784080, 24981860, 25305204, 27705803 |
GO:0005634 |
Component |
Nucleus |
IDA |
9465067, 14508515, 15199122, 15640349, 17500065 |
GO:0005654 |
Component |
Nucleoplasm |
IDA |
|
GO:0005654 |
Component |
Nucleoplasm |
TAS |
|
GO:0005737 |
Component |
Cytoplasm |
IDA |
11500056 |
GO:0005788 |
Component |
Endoplasmic reticulum lumen |
TAS |
|
GO:0005829 |
Component |
Cytosol |
IDA |
14508515 |
GO:0005829 |
Component |
Cytosol |
TAS |
|
GO:0006281 |
Process |
DNA repair |
NAS |
12874027 |
GO:0006357 |
Process |
Regulation of transcription by RNA polymerase II |
IBA |
21873635 |
GO:0006974 |
Process |
Cellular response to DNA damage stimulus |
IDA |
16690369 |
GO:0008285 |
Process |
Negative regulation of cell population proliferation |
IBA |
21873635 |
GO:0008285 |
Process |
Negative regulation of cell population proliferation |
IDA |
15331604 |
GO:0009411 |
Process |
Response to UV |
IDA |
16690369 |
GO:0010332 |
Process |
Response to gamma radiation |
IDA |
12874027 |
GO:0016363 |
Component |
Nuclear matrix |
IDA |
12874027 |
GO:0018024 |
Function |
Histone-lysine N-methyltransferase activity |
IBA |
21873635 |
GO:0018024 |
Function |
Histone-lysine N-methyltransferase activity |
IDA |
14992727 |
GO:0030511 |
Process |
Positive regulation of transforming growth factor beta receptor signaling pathway |
IMP |
11274402 |
GO:0030674 |
Function |
Protein-macromolecule adaptor activity |
IDA |
20484083 |
GO:0032092 |
Process |
Positive regulation of protein binding |
IDA |
20484083 |
GO:0032154 |
Component |
Cleavage furrow |
IDA |
14508515 |
GO:0032991 |
Component |
Protein-containing complex |
IDA |
15199122 |
GO:0034968 |
Process |
Histone lysine methylation |
IEA |
|
GO:0035097 |
Component |
Histone methyltransferase complex |
IBA |
21873635 |
GO:0035097 |
Component |
Histone methyltransferase complex |
IDA |
17500065 |
GO:0035097 |
Component |
Histone methyltransferase complex |
IPI |
14992727 |
GO:0043433 |
Process |
Negative regulation of DNA-binding transcription factor activity |
IDA |
11526476, 12226747 |
GO:0043687 |
Process |
Post-translational protein modification |
TAS |
|
GO:0044267 |
Process |
Cellular protein metabolic process |
TAS |
|
GO:0045668 |
Process |
Negative regulation of osteoblast differentiation |
IGI |
15563473 |
GO:0045736 |
Process |
Negative regulation of cyclin-dependent protein serine/threonine kinase activity |
IMP |
15640349 |
GO:0045786 |
Process |
Negative regulation of cell cycle |
IBA |
21873635 |
GO:0045786 |
Process |
Negative regulation of cell cycle |
IDA |
15331604 |
GO:0045892 |
Process |
Negative regulation of transcription, DNA-templated |
IDA |
12226747 |
GO:0045944 |
Process |
Positive regulation of transcription by RNA polymerase II |
TAS |
|
GO:0046329 |
Process |
Negative regulation of JNK cascade |
IDA |
12226747 |
GO:0047485 |
Function |
Protein N-terminus binding |
IPI |
11526476 |
GO:0051974 |
Process |
Negative regulation of telomerase activity |
IMP |
12837246 |
GO:0070412 |
Function |
R-SMAD binding |
IPI |
11274402 |
GO:1904837 |
Process |
Beta-catenin-TCF complex assembly |
TAS |
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
O00255 |
Protein name |
Menin |
Protein function |
Essential component of a MLL/SET1 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3 (H3K4). Functions as a transcriptional regulator. Binds to the TERT promoter and represses telomerase express |
PDB |
3U84
,
3U85
,
3U86
,
3U88
,
4GPQ
,
4GQ3
,
4GQ4
,
4GQ6
,
4I80
,
4OG3
,
4OG4
,
4OG5
,
4OG6
,
4OG7
,
4OG8
,
4X5Y
,
4X5Z
,
5DB0
,
5DB1
,
5DB2
,
5DB3
,
5DD9
,
5DDA
,
5DDB
,
5DDC
,
5DDD
,
5DDE
,
5DDF
,
6B41
,
6BXH
,
6BXY
,
6BY8
,
6E1A
,
6O5I
,
6OPJ
,
6PKC
,
6S2K
,
6WNH
,
7M4T
,
7O9T
,
7O9X
,
7O9Z
,
7OA9
,
7UJ4
,
8E90
,
8GPN
,
8IG0
,
8VA5
,
8VA6
,
9C92
,
9C93
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF05053 |
Menin |
1 → 516 |
Menin |
Family |
PF05053 |
Menin |
526 → 613 |
Menin |
Family |
|
Sequence |
|
Sequence length |
615 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Adrenocortical adenoma |
Adrenal Cortical Adenoma |
rs121913035 |
|
Adrenocortical carcinoma |
Adrenocortical carcinoma |
rs121912656, rs28934874, rs121912662, rs786202525, rs121912664, rs397516435, rs121913343, rs587780070, rs121912666, rs55832599, rs587782144, rs587782272, rs587782529, rs587782620, rs587782664, rs587782705, rs193920817, rs55863639, rs730882029, rs730882005, rs730882025, rs730881999, rs786201838, rs786202962, rs863224451, rs863224499, rs760043106, rs11540652, rs11540654, rs876658483, rs587781525, rs1057519986, rs1057519989, rs530941076, rs1060501197, rs1064792930, rs1064794618, rs1131691042, rs1555526131, rs1057519990, rs1555526097, rs1567554500, rs1131691039, rs1202793339, rs769697802 |
24747642 |
Angiofibroma |
Angiofibroma |
rs121913034, rs267607234 |
|
Carcinoma |
Carcinoma, Neuroendocrine |
rs121912654, rs555607708, rs786202962, rs1564055259 |
|
Cholestasis |
Cholestasis, Extrahepatic |
rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039 |
|
Chondrocalcinosis |
Calcium pyrophosphate deposition disease |
rs121908405, rs28939080, rs121908407, rs2126640512, rs121908408, rs121908409, rs121908410 |
|
Hyperinsulinemic hypoglycemia |
Congenital Hyperinsulinism, Hyperinsulinemic hypoglycemia |
rs137853103, rs2126234459, rs104894237, rs267607196, rs387906407, rs151344623, rs28936370, rs28938469, rs28936371, rs137852671, rs137852672, rs72559723, rs193922400, rs137852676, rs193922402, rs980458021, rs375717077, rs786200932, rs587783169, rs72559713, rs72559716, rs786204542, rs541269678, rs570388861, rs72559722, rs786204676, rs151344624, rs797045637, rs797045212, rs797045211, rs797045207, rs797045213, rs761749884, rs863225280, rs139964066, rs886039877, rs886041392, rs886041391, rs746480424, rs1057516281, rs1057516317, rs576684889, rs764613146, rs773306994, rs1057516946, rs1057517139, rs1057516591, rs201682634, rs766891274, rs193922405, rs72559715, rs769518471, rs757171524, rs139328569, rs768951263, rs72559718, rs1260178539, rs200670692, rs72559734, rs1554910610, rs1554924035, rs372307320, rs1446306735, rs925231098, rs1554913069, rs1554923999, rs765090096, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1554949176, rs1411638309, rs1008906426, rs758844607, rs1554924540, rs755259997, rs769569410, rs72559730, rs367850779, rs1382448285, rs1564977373, rs750586210, rs1398546361, rs781617345 |
|
Hypercalcemia |
Hypercalcemia |
rs876657376, rs387907322, rs777676129, rs387907323, rs114368325, rs6068812, rs387907324, rs777947329, rs201304511, rs769409705, rs200095793, rs876661338, rs1554095500, rs139763321, rs774432244, rs781367354 |
|
Hyperparathyroidism |
Hyperparathyroidism, Hyperparathyroidism, Primary, Familial Isolated Hyperparathyroidism |
rs28942098, rs121434262, rs80356649, rs121434264, rs587776558, rs587776559, rs121909259, rs104893689, rs28936684, rs104893690, rs869320729, rs104893700, rs104893705, rs104893707, rs104893709, rs863223311, rs80356650, rs193922432, rs886041637, rs201633414, rs1057519419, rs766719790, rs1281361203, rs759393722, rs1342435095, rs1200458339, rs755916513, rs1586190048, rs1558280170 |
10664521, 25162666, 9792884, 12699448 |
Hypogonadotropic hypogonadism |
Hypogonadotropic hypogonadism |
rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139 |
|
Multiple endocrine neoplasia |
Multiple Endocrine Neoplasia Type 1, Multiple Endocrine Neoplasia |
rs121917832, rs76262710, rs75076352, rs75996173, rs80069458, rs79781594, rs77316810, rs77503355, rs77709286, rs74799832, rs76764689, rs76449634, rs78014899, rs77939446, rs79890926, rs75030001, rs77558292, rs79658334, rs75873440, rs75234356, rs104894256, rs397515385, rs104894258, rs1555164986, rs869025185, rs104894259, rs104894260, rs104894261, rs28931612, rs104894266, rs104894267, rs587776841, rs104894262, rs104894263, rs1941851693, rs104894264, rs104894265, rs863223311, rs760199250, rs1060499976, rs377767396, rs377767391, rs377767397, rs377767404, rs377767405, rs377767406, rs377767412, rs143795581, rs146646971, rs377767440, rs386134245, rs386134246, rs386134247, rs386134249, rs386134250, rs386134251, rs386134253, rs386134254, rs386134255, rs386134256, rs386134258, rs386134259, rs386134260, rs386134261, rs377767442, rs377767398, rs377767429, rs794728622, rs398124435, rs398124437, rs730882136, rs786201007, rs786201010, rs786201011, rs786204242, rs794728631, rs794728630, rs761695866, rs767319284, rs794728659, rs794728629, rs764570645, rs794728654, rs794728625, rs794728624, rs794728621, rs794728640, rs104894257, rs794728650, rs376872829, rs794728657, rs794728647, rs794728639, rs794728616, rs794728615, rs794728614, rs863224527, rs863224526, rs864622617, rs864622615, rs878855198, rs878855196, rs878855192, rs878855191, rs886039421, rs886039419, rs886039418, rs886039416, rs886039415, rs886039414, rs886039553, rs886039413, rs886041213, rs886041214, rs886042035, rs1057517902, rs1057518572, rs1057521110, rs1057521111, rs794728648, rs1057520733, rs1060500759, rs1060499974, rs750904332, rs1060499973, rs778670301, rs1060499991, rs1060499986, rs1060499992, rs1555166494, rs1555163780, rs1060499981, rs2071312, rs1555166609, rs772588551, rs1060500186, rs1060499987, rs1060499990, rs1555163591, rs1060503789, rs1064793167, rs1064793672, rs1064793613, rs1555166711, rs1085307471, rs1114167510, rs1114167514, rs1114167536, rs1114167531, rs1114167528, rs1114167542, rs1114167524, rs1114167513, rs1060499984, rs767078097, rs1114167489, rs1114167482, rs1114167483, rs1114167508, rs1114167469, rs1114167498, rs794728652, rs1114167499, rs1114167519, rs1114167538, rs1114167515, rs1114167486, rs1114167491, rs1555166695, rs1114167523, rs1555165128, rs1555166387, rs1555165488, rs972128957, rs1555165377, rs1555164270, rs1555165503, rs778921501, rs1555165756, rs141679530, rs1555163883, rs1555164115, rs1555165809, rs1555166466, rs532903617, rs1555085549, rs1555166368, rs1555164430, rs1555165485, rs1555166567, rs1555163646, rs776561706, rs1555166681, rs1555085575, rs1555165360, rs1555166365, rs1555164707, rs1555164946, rs1555164184, rs1565634591, rs1565640081, rs1565635941, rs1565642765, rs1565647767, rs1565648547, rs1565648789, rs1565651223, rs1565651568, rs1565645563, rs1565647197, rs1565648656, rs794728627, rs1564500612, rs1565644366, rs1565646772, rs1349668409, rs1588862638, rs1483605155, rs1592630079, rs1592633378, rs1592633463, rs1592637081, rs1592637440, rs1592637455, rs1187634059, rs1592647398, rs1592648765, rs1592648830, rs1592649108, rs1592651767, rs1592657785, rs1592660101, rs1565652689, rs1592280948, rs1592280992, rs1592634740, rs1592649598, rs1592649615, rs1588873476, rs1592280833, rs1592658517, rs1592640181, rs1397494237, rs1592631908, rs1592636161, rs1592643178, rs1592649069, rs1592281087, rs755301027, rs1941501683, rs1941615895, rs1941625647, rs1941850919, rs1941861451, rs1941994887, rs1946487230, rs1946491613, rs1946492962, rs1941733228, rs1941598294, rs1064793168 |
10576763, 23788249, 10664520, 10849016, 9103196, 11134142, 17555499, 12652570, 14686752, 9832038, 9740255, 9683585, 10090472, 14992727, 12417605, 10534569, 9709976, 9820618, 9215690, 9747036, 12791038, 9709921, 10660339, 15730416, 15714081, 10993647, 9215689, 11102994, 11241849, 25162666, 9888389, 10229909, 19847644, 9671267, 12050235, 22327296, 9506756, 12112656, 9989505, 12746426, 9463336, 12699448, 10617276, 9709985, 23788249 |
Osteoporosis |
Osteoporosis, Generalized osteoporosis |
rs72658152, rs72667023, rs587776916, rs72656370, rs768615287 |
|
Pancreatic cancer |
Malignant neoplasm of pancreas |
rs118203998, rs180177143, rs587776417, rs587776527, rs864622498, rs876659571, rs587778587, rs886039619, rs745533713, rs1555460431, rs200612497 |
17961653, 21252315 |
Parathyroid adenoma |
Parathyroid Adenoma |
rs587776557 |
|
Pituitary adenoma |
ACTH-Secreting Pituitary Adenoma, Non-Functioning Pituitary Gland Neoplasm, Null pituitary adenoma, Pituitary Adenoma, Pituitary growth hormone cell adenoma, Silent pituitary adenoma |
rs5030861, rs104894194, rs121908356, rs121908347, rs727502931, rs121908348, rs121908349, rs111033271, rs121908351, rs121917839, rs121917840, rs587776681, rs193922688, rs121917841, rs587776682, rs587776683, rs121917842, rs121917843, rs121917844, rs121917845, rs11554273, rs121913495, rs121913494, rs137854533, rs140016178, rs397517323, rs397517327, rs397517329, rs397517341, rs397517342, rs183431253, rs397517350, rs370983472, rs397517367, rs794726693, rs727502919, rs766673446, rs786204663, rs1556379508, rs876657754, rs773464867, rs878853337, rs886037871, rs762529663, rs1057517027, rs1057517041, rs1057516832, rs1057517424, rs1057516846, rs1057524265, rs1060499789, rs750803248, rs1064797071, rs756147087, rs758382198, rs750880909, rs1554877806, rs769433759, rs1474524543, rs866435331, rs936479651, rs146918863, rs1554182514, rs1436089021, rs1554182507, rs1554182481, rs1554182645, rs1554182405, rs1554182632, rs747955135, rs745571683, rs1190307769, rs1564808024, rs1214465435, rs1589424694, rs1200012430, rs1377982927, rs1230303971, rs750027965, rs1292050472, rs1278603247, rs1862873659, rs1338446830, rs771766431, rs759981467, rs780917129, rs1221464948, rs1166948274, rs754876029, rs762805265 |
23321498 |
Renal insufficiency |
Renal Insufficiency |
rs1596536873 |
|
Hypothyroidism |
Secondary hypothyroidism |
rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605 |
|
Thyroid cancer |
familial non-medullary thyroid cancer |
rs119486096, rs104894171, rs28933406, rs11554290, rs121913364, rs797044990, rs1564566774, rs200989342 |
26530882 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Abducens palsy |
Abducens Nerve Palsy |
|
|
Adenoma sebaceum |
Fibrous skin tumor of tuberous sclerosis |
|
|
Adrenal neoplasia |
Adrenal Gland Neoplasms |
|
|
Adrenocorticotropic hormone deficiency |
Adrenocorticotropic hormone (ACTH) deficiency (disorder) |
|
|
Adrenocorticotropin deficient adrenal insufficiency |
Adrenocorticotropin deficient adrenal insufficiency |
|
|
Amnesia |
Amnesia, Transient Global |
|
|
Anxiety disorder |
Anxiety |
|
|
Carcinoid tumor of lung |
Carcinoid tumor of lung |
|
|
Cranial nerve paralysis |
Fourth cranial nerve paresis |
|
|
Endocrine gland cancer |
Carcinoma of Endocrine Gland |
|
|
Erectile dysfunction |
Erectile dysfunction |
|
|
Eosinophilia |
Esophagitis |
|
|
Female hypogonadism syndrome |
Female hypogonadism syndrome |
|
|
Gastrinoma |
Gastrinoma |
|
17961653 |
Glucagonoma |
Glucagonoma |
|
17961653 |
Growth hormone deficiency |
Secondary growth hormone deficiency |
|
|
Gynecomastia |
Gynecomastia |
|
|
Hereditary paraganglioma-pheochromocytoma syndromes |
Hereditary Paraganglioma-Pheochromocytoma Syndrome |
|
12016472, 20937862, 25494863, 23778871, 10598193 |
Hypoglycemia |
Hypoglycemia |
|
|
Insulinoma |
insulinoma |
|
17961653, 26307114 |
Islet cell tumor |
Islet Cell Tumor |
|
|
Nephrocalcinosis |
Nephrocalcinosis |
|
|
Neuroendocrine tumors |
Neuroendocrine Tumors |
|
21252315 |
Oculomotor nerve palsy |
Oculomotor Nerve Paralysis |
|
|
Osteopenia |
Osteopenia |
|
|
Pancreatic adenoma |
Pancreatic islet cell adenoma |
|
|
Pancreatic endocrine carcinoma |
Pancreatic Endocrine Carcinoma |
|
|
Pancreatic neoplasm |
Pancreatic Neoplasm |
|
21252315, 17961653 |
Parathyroid hyperplasia |
Parathyroid hyperplasia |
|
|
Parathyroid neoplasms |
Parathyroid Neoplasms |
|
|
Peptic ulcer |
Peptic Ulcer |
|
|
Phosphate diabetes |
Phosphate Diabetes |
|
|
Pituitary gigantism |
Pituitary gigantism |
|
|
Pituitary neoplasms |
Pituitary Neoplasms |
|
|
Prolactinoma |
Prolactinoma |
|
23321498 |
Ptosis |
Blepharoptosis, Ptosis |
rs139920573 |
|
Reactive hypoglycemia |
Reactive hypoglycemia |
|
|
Subcutaneous lipoma |
Subcutaneous lipoma |
|
|
Testicular hypogonadism |
Testicular hypogonadism |
|
|
Thymoma |
Thymoma |
|
|
Thyroid gland follicular adenoma |
Thyroid Gland Follicular Adenoma |
|
|
Vipoma |
Vipoma |
|
17961653 |
Zollinger-ellison syndrome |
Zollinger-Ellison syndrome |
|
|
|
|
|