MAML2

Protein identityUniProt · HPA

UniProt accession

Q8IZL2

Gene

MAML2

Ensembl

ENSG00000184384

Chromosome

11

Canonical length

1156 aa

Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Nuclear bodies,Cytosol

OverviewNCBI Gene

The protein encoded by this gene is a member of the Mastermind-like family of proteins. All family members are proline and glutamine-rich, and contain a conserved basic domain that binds the ankyrin repeat domain of the intracellular domain of the Notch receptors (ICN1-4) in their N-terminus, and a transcriptional activation domain in their C-terminus. This protein binds to an extended groove that is formed by the interaction of CBF1, Suppressor of Hairless, LAG-1 (CSL) with ICN, and positively regulates Notch signaling. High levels of expression of this gene have been observed in several B cell-derived lymphomas. Translocations resulting in fusion proteins with both CRTC1 and CRTC3 have been implicated in the development of mucoepidermoid carcinomas, while a translocation event with CXCR4 has been linked with chronic lymphocytic leukemia (CLL). Copy number variation in the polyglutamine tract has been observed. [provided by RefSeq, Jan 2015]

Canonical amino-acid sequenceUniProt

1156 residues, UniProt reviewed canonical sequence.

>Q8IZL2|MAML2
     1  MGDTAPPQAP AGGLGGASGA GLLGGGSVTP RVHSAIVERL RARIAVCRQH HLSCEGRYER
    61  GRAESSDRER ESTLQLLSLV QHGQGARKAG KHTKATATAA TTTAPPPPPA APPAASQAAA
   121  TAAPPPPPDY HHHHQQHLLN SSNNGGSGGI NGEQQPPAST PGDQRNSALI ALQGSLKRKQ
   181  VVNLSPANSK RPNGFVDNSF LDIKRIRVGE NLSAGQGGLQ INNGQSQIMS GTLPMSQAPL
   241  RKTNTLPSHT HSPGNGLFNM GLKEVKKEPG ETLSCSKHMD GQMTQENIFP NRYGDDPGEQ
   301  LMDPELQELF NELTNISVPP MSDLELENMI NATIKQDDPF NIDLGQQSQR STPRPSLPME
   361  KIVIKSEYSP GLTQGPSGSP QLRPPSAGPA FSMANSALST SSPIPSVPQS QAQPQTGSGA
   421  SRALPSWQEV SHAQQLKQIA ANRQQHARMQ QHQQQHQPTN WSALPSSAGP SPGPFGQEKI
   481  PSPSFGQQTF SPQSSPMPGV AGGSGQSKVM ANYMYKAGPS AQGGHLDVLM QQKPQDLSRS
   541  FINNPHPAME PRQGNTKPLF HFNSDQANQQ MPSVLPSQNK PSLLHYTQQQ QQQQQQQQQQ
   601  QQQQQQQQQQ QQQQQQQQQQ QSSISAQQQQ QQQSSISAQQ QQQQQQQQQQ QQQQQQQQQQ
   661  QQQQQPSSQP AQSLPSQPLL RSPLPLQQKL LLQQMQNQPI AGMGYQVSQQ QRQDQHSVVG
   721  QNTGPSPSPN PCSNPNTGSG YMNSQQSLLN QQLMGKKQTL QRQIMEQKQQ LLLQQQMLAD
   781  AEKIAPQDQI NRHLSRPPPD YKDQRRNVGN MQPTAQYSGG SSTISLNSNQ ALANPVSTHT
   841  ILTPNSSLLS TSHGTRMPSL STAVQNMGMY GNLPCNQPNT YSVTSGMNQL TQQRNPKQLL
   901  ANQNNPMMPR PPTLGPSNNN NVATFGAGSV GNSQQLRPNL THSMASMPPQ RTSNVMITSN
   961  TTAPNWASQE GTSKQQEALT SAGVRFPTGT PAAYTPNQSL QQAVGSQQFS QRAVAPPNQL
  1021  TPAVQMRPMN QMSQTLNGQT MGPLRGLNLR PNQLSTQILP NLNQSGTGLN QSRTGINQPP
  1081  SLTPSNFPSP NQSSRAFQGT DHSSDLAFDF LSQQNDNMGP ALNSDADFID SLLKTEPGND
  1141  DWMKDINLDE ILGNNS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MAML2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.67

Highest tissue expression

13 nTPM

Expression across tissuesHPA

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.23

gnomAD pLI

1

gnomAD missense Z

0.45

DepMap mean gene effect

-0.01

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• Notch signaling pathway
• positive regulation of transcription by RNA polymerase II
• positive regulation of transcription of Notch receptor target

Molecular functions

• transcription coactivator activity

Cellular components

• nuclear speck
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Neurogenic mastermind-like, N-terminal
• Mastermind-like 1-3
• Neurogenic mastermind-like, N-terminal domain superfamily
• MamL-1 domain
• Mastermind-like protein 2, transcriptional activation domain
• Mastermind-like protein 2, transcriptional activation domain

KeywordsUniProt

• Activator
• Chromosomal rearrangement
• Notch signaling pathway
• Nucleus
• Phosphoprotein
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of MAML2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• NOTCH2
• NOTCH3
• NOTCH4
• NOTCH1