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Protein

MKL/myocardin-like protein 2

Gene

MKL2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Acts as a transcriptional coactivator of serum response factor (SRF). Required for skeletal myogenic differentiation.1 Publication

GO - Molecular functioni

  • cadherin binding involved in cell-cell adhesion Source: BHF-UCL
  • RNA polymerase II transcription coactivator activity Source: GO_Central
  • transcription coactivator activity Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Activator, Developmental protein

Keywords - Biological processi

Differentiation, Myogenesis, Transcription, Transcription regulation

Enzyme and pathway databases

SIGNORiQ9ULH7.

Names & Taxonomyi

Protein namesi
Recommended name:
MKL/myocardin-like protein 2
Alternative name(s):
Megakaryoblastic leukemia 2
Myocardin-related transcription factor B
Short name:
MRTF-B
Gene namesi
Name:MKL2
Synonyms:KIAA1243, MRTFB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:29819. MKL2.

Subcellular locationi

GO - Cellular componenti

  • cell-cell adherens junction Source: BHF-UCL
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving C11orf95 is found in 3 chondroid lipomas. Translocation t(11;16)(q13;p13) with C11orf95 produces a C11orf95-MKL2 fusion protein (PubMed:20607705).

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei394Breakpoint for translocation to form C11orf95-MLK2 fusion protein1

Organism-specific databases

DisGeNETi57496.
OpenTargetsiENSG00000186260.
PharmGKBiPA134981329.

Polymorphism and mutation databases

BioMutaiMKL2.
DMDMi32363203.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001266281 – 1088MKL/myocardin-like protein 2Add BLAST1088

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei66PhosphoserineCombined sources1
Modified residuei367PhosphothreonineCombined sources1
Modified residuei370PhosphothreonineCombined sources1
Modified residuei541PhosphoserineCombined sources1
Modified residuei543PhosphoserineCombined sources1
Cross-linki628Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)Combined sources
Modified residuei921PhosphoserineCombined sources1
Isoform 4 (identifier: Q9ULH7-4)
Modified residuei22PhosphoserineCombined sources1
Isoform 5 (identifier: Q9ULH7-5)
Modified residuei22PhosphoserineCombined sources1

Post-translational modificationi

O-glycosylated.By similarity

Keywords - PTMi

Glycoprotein, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9ULH7.
PaxDbiQ9ULH7.
PeptideAtlasiQ9ULH7.
PRIDEiQ9ULH7.

PTM databases

iPTMnetiQ9ULH7.
PhosphoSitePlusiQ9ULH7.

Miscellaneous databases

PMAP-CutDBQ9ULH7.

Expressioni

Gene expression databases

BgeeiENSG00000186260.
CleanExiHS_MKL2.
ExpressionAtlasiQ9ULH7. baseline and differential.
GenevisibleiQ9ULH7. HS.

Organism-specific databases

HPAiHPA011286.

Interactioni

Subunit structurei

Interacts with MKL1 and SRF.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
SRFP118313EBI-493007,EBI-493034

GO - Molecular functioni

  • cadherin binding involved in cell-cell adhesion Source: BHF-UCL

Protein-protein interaction databases

BioGridi121563. 12 interactors.
IntActiQ9ULH7. 6 interactors.
MINTiMINT-1190534.
STRINGi9606.ENSP00000339086.

Structurei

3D structure databases

ProteinModelPortaliQ9ULH7.
SMRiQ9ULH7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati40 – 65RPEL 1Add BLAST26
Repeati84 – 109RPEL 2Add BLAST26
Repeati128 – 153RPEL 3Add BLAST26
Domaini389 – 423SAPPROSITE-ProRule annotationAdd BLAST35

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni563 – 591Required for interaction with itself and with MKL1Add BLAST29

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili545 – 601Sequence analysisAdd BLAST57

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi671 – 787Gln-richAdd BLAST117

Domaini

The N-terminal region is required for nuclear localization and the C-terminal region mediates transcriptional activity.By similarity

Sequence similaritiesi

Contains 3 RPEL repeats.PROSITE-ProRule annotation
Contains 1 SAP domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiENOG410IFJX. Eukaryota.
ENOG41101AM. LUCA.
GeneTreeiENSGT00530000063195.
HOGENOMiHOG000038001.
HOVERGENiHBG036493.
InParanoidiQ9ULH7.
OMAiKPYQEVN.
OrthoDBiEOG091G01ZY.
PhylomeDBiQ9ULH7.
TreeFamiTF326024.

Family and domain databases

Gene3Di1.10.720.30. 1 hit.
InterProiIPR004018. RPEL_repeat.
IPR003034. SAP_dom.
[Graphical view]
PfamiPF02755. RPEL. 2 hits.
PF02037. SAP. 1 hit.
[Graphical view]
SMARTiSM00707. RPEL. 3 hits.
SM00513. SAP. 1 hit.
[Graphical view]
PROSITEiPS51073. RPEL. 3 hits.
PS50800. SAP. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9ULH7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MIDSSKKQQQ GFPEILTAGD FEPLKEKECL EGSNQKSLKE VLQLRLQQRR
60 70 80 90 100
TREQLVDQGI MPPLKSPAAF HEQIKSLERA RTENFLKHKI RSRPDRSELV
110 120 130 140 150
RMHILEETFA EPSLQATQMK LKRARLADDL NEKIAQRPGP MELVEKNILP
160 170 180 190 200
VDSSVKEAII GVGKEDYPHT QGDFSFDEDS SDALSPDQPA SQESQGSAAS
210 220 230 240 250
PSEPKVSESP SPVTTNTPAQ FASVSPTVPE FLKTPPTADQ PPPRPAAPVL
260 270 280 290 300
PTNTVSSAKP GPALVKQSHP KNPNDKHRSK KCKDPKPRVK KLKYHQYIPP
310 320 330 340 350
DQKGEKNEPQ MDSNYARLLQ QQQLFLQLQI LSQQKQHYNY QTILPAPFKP
360 370 380 390 400
LNDKNSNSGN SALNNATPNT PRQNTSTPVR KPGPLPSSLD DLKVSELKTE
410 420 430 440 450
LKLRGLPVSG TKPDLIERLK PYQEVNSSGL AAGGIVAVSS SAIVTSNPEV
460 470 480 490 500
TVALPVTTLH NTVTSSVSTL KAELPPTGTS NATRVENVHS PLPISPSPSE
510 520 530 540 550
QSSLSTDDTN MADTFTEIMT MMSPSQFLSS SPLRMTNNED SLSPTSSTLS
560 570 580 590 600
NLELDAAEKD RKLQEKEKQI EELKRKLEQE QKLVEVLKMQ LEVEKRGQQQ
610 620 630 640 650
RPLEAQPSAP GHSVKSDQKH GSLGSSIKDE ASLPDCSSSR QPIPVASHAV
660 670 680 690 700
GQPVSTGGQT LVAKKAVVIK QEVPVGQAEQ QSVVSQFYVS SQGQPPPAVV
710 720 730 740 750
AQPQALLTTQ TAQLLLPVSI QGSSVTSVQL PVGSLKLQTS PQAGMQTQPQ
760 770 780 790 800
IATAAQIPTA ALASGLAPTV PQTQDTFPQH VLSQPQQVRK VFTNSASSNT
810 820 830 840 850
VLPYQRHPAP AVQQPFINKA SNSVLQSRNA PLPSLQNGPN TPNKPSSPPP
860 870 880 890 900
PQQFVVQHSL FGSPVAKTKD PPRYEEAIKQ TRSTQAPLPE ISNAHSQQMD
910 920 930 940 950
DLFDILIKSG EISLPIKEEP SPISKMRPVT ASITTMPVNT VVSRPPPQVQ
960 970 980 990 1000
MAPPVSLEPM GSLSASLENQ LEAFLDGTLP SANEIPPLQS SSEDREPFSL
1010 1020 1030 1040 1050
IEDLQNDLLS HSGMLDHSHS PMETSETQFA AGTPCLSLDL SDSNLDNMEW
1060 1070 1080
LDITMPNSSS GLTPLSTTAP SMFSADFLDP QDLPLPWD
Length:1,088
Mass (Da):118,127
Last modified:June 27, 2003 - v3
Checksum:i0CA4A52A115C0C83
GO
Isoform 2 (identifier: Q9ULH7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-41: MIDSSKKQQQGFPEILTAGDFEPLKEKECLEGSNQKSLKEV → M
     350-418: PLNDKNSNSG...SGTKPDLIER → AYHTVSEVHM...VSSIIPGINS
     419-1088: Missing.

Note: No experimental confirmation available.
Show »
Length:378
Mass (Da):42,496
Checksum:i265D363A09230333
GO
Isoform 3 (identifier: Q9ULH7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     350-461: PLNDKNSNSG...VALPVTTLHN → YGGAHAILNA...VSSIIPGINS
     462-1088: Missing.

Note: No experimental confirmation available.
Show »
Length:461
Mass (Da):51,902
Checksum:i94540BFA3F4213AB
GO
Isoform 4 (identifier: Q9ULH7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-40: MIDSSKKQQQ...EGSNQKSLKE → MDHTGAIDTE...NLPPLNERKN
     689-738: Missing.

Show »
Length:1,049
Mass (Da):114,119
Checksum:iE8DC053F48F8AA4F
GO
Isoform 5 (identifier: Q9ULH7-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-40: MIDSSKKQQQ...EGSNQKSLKE → MDHTGAIDTE...NLPPLNERKN

Show »
Length:1,099
Mass (Da):119,165
Checksum:i36FB8F1653F10868
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti266K → R in BAC04200 (PubMed:14702039).Curated1
Sequence conflicti350P → A in AAQ82435 (PubMed:14565952).Curated1
Sequence conflicti592E → G in CAH18657 (PubMed:17974005).Curated1
Sequence conflicti598Q → R in AAQ82435 (PubMed:14565952).Curated1
Sequence conflicti629D → G in AAQ82435 (PubMed:14565952).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064732390D → G Found in a renal cell carcinoma sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0076531 – 41MIDSS…SLKEV → M in isoform 2. 1 PublicationAdd BLAST41
Alternative sequenceiVSP_0133551 – 40MIDSS…KSLKE → MDHTGAIDTEDEVGPLAHLA PSPQSEAVAHEFQELSLQSS QNLPPLNERKN in isoform 4 and isoform 5. 3 PublicationsAdd BLAST40
Alternative sequenceiVSP_007656350 – 461PLNDK…TTLHN → YGGAHAILNAGFSVVFMRNY KLPKVECCHLFVLSNDFHFF VIRAYHTVSEVHMVRVACIP FQFLSSKIGSEFLQVRNAFS QLFIQICLLLEHQNSTRCSE KSVSSIIPGINS in isoform 3. 1 PublicationAdd BLAST112
Alternative sequenceiVSP_007654350 – 418PLNDK…DLIER → AYHTVSEVHMVRVACIPFQF LSSKIGSEFLQVRNAFSQLF IQICLLLEHQNSTRCSEKSV SSIIPGINS in isoform 2. 1 PublicationAdd BLAST69
Alternative sequenceiVSP_007655419 – 1088Missing in isoform 2. 1 PublicationAdd BLAST670
Alternative sequenceiVSP_007657462 – 1088Missing in isoform 3. 1 PublicationAdd BLAST627
Alternative sequenceiVSP_013356689 – 738Missing in isoform 4. 1 PublicationAdd BLAST50

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY374297 mRNA. Translation: AAQ82435.1.
AK093577 mRNA. Translation: BAC04200.1.
AK294765 mRNA. Translation: BAG57899.1.
AC012626 Genomic DNA. No translation available.
AC040173 Genomic DNA. No translation available.
AC130650 Genomic DNA. No translation available.
CH471112 Genomic DNA. Translation: EAW85112.1.
BC047761 mRNA. Translation: AAH47761.1.
BC136260 mRNA. Translation: AAI36261.1.
BC171750 mRNA. Translation: AAI71750.1.
AB033069 mRNA. Translation: BAA86557.2.
CR749797 mRNA. Translation: CAH18657.1.
CCDSiCCDS32391.1. [Q9ULH7-4]
CCDS76823.1. [Q9ULH7-5]
RefSeqiNP_001295071.1. NM_001308142.1. [Q9ULH7-5]
NP_054767.3. NM_014048.4. [Q9ULH7-4]
XP_005255509.1. XM_005255452.3. [Q9ULH7-5]
XP_005255510.1. XM_005255453.4. [Q9ULH7-5]
XP_005255512.1. XM_005255455.3. [Q9ULH7-1]
XP_006720971.1. XM_006720908.3. [Q9ULH7-5]
XP_006720972.1. XM_006720909.3. [Q9ULH7-5]
XP_006720977.1. XM_006720914.2. [Q9ULH7-4]
XP_011520870.1. XM_011522568.2. [Q9ULH7-5]
XP_016878990.1. XM_017023501.1. [Q9ULH7-5]
XP_016878991.1. XM_017023502.1. [Q9ULH7-5]
UniGeneiHs.49143.
Hs.683854.

Genome annotation databases

EnsembliENST00000318282; ENSP00000339086; ENSG00000186260. [Q9ULH7-4]
ENST00000571589; ENSP00000459626; ENSG00000186260. [Q9ULH7-5]
ENST00000573051; ENSP00000460589; ENSG00000186260. [Q9ULH7-2]
ENST00000574045; ENSP00000459205; ENSG00000186260. [Q9ULH7-4]
GeneIDi57496.
KEGGihsa:57496.
UCSCiuc002dcg.4. human. [Q9ULH7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY374297 mRNA. Translation: AAQ82435.1.
AK093577 mRNA. Translation: BAC04200.1.
AK294765 mRNA. Translation: BAG57899.1.
AC012626 Genomic DNA. No translation available.
AC040173 Genomic DNA. No translation available.
AC130650 Genomic DNA. No translation available.
CH471112 Genomic DNA. Translation: EAW85112.1.
BC047761 mRNA. Translation: AAH47761.1.
BC136260 mRNA. Translation: AAI36261.1.
BC171750 mRNA. Translation: AAI71750.1.
AB033069 mRNA. Translation: BAA86557.2.
CR749797 mRNA. Translation: CAH18657.1.
CCDSiCCDS32391.1. [Q9ULH7-4]
CCDS76823.1. [Q9ULH7-5]
RefSeqiNP_001295071.1. NM_001308142.1. [Q9ULH7-5]
NP_054767.3. NM_014048.4. [Q9ULH7-4]
XP_005255509.1. XM_005255452.3. [Q9ULH7-5]
XP_005255510.1. XM_005255453.4. [Q9ULH7-5]
XP_005255512.1. XM_005255455.3. [Q9ULH7-1]
XP_006720971.1. XM_006720908.3. [Q9ULH7-5]
XP_006720972.1. XM_006720909.3. [Q9ULH7-5]
XP_006720977.1. XM_006720914.2. [Q9ULH7-4]
XP_011520870.1. XM_011522568.2. [Q9ULH7-5]
XP_016878990.1. XM_017023501.1. [Q9ULH7-5]
XP_016878991.1. XM_017023502.1. [Q9ULH7-5]
UniGeneiHs.49143.
Hs.683854.

3D structure databases

ProteinModelPortaliQ9ULH7.
SMRiQ9ULH7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121563. 12 interactors.
IntActiQ9ULH7. 6 interactors.
MINTiMINT-1190534.
STRINGi9606.ENSP00000339086.

PTM databases

iPTMnetiQ9ULH7.
PhosphoSitePlusiQ9ULH7.

Polymorphism and mutation databases

BioMutaiMKL2.
DMDMi32363203.

Proteomic databases

EPDiQ9ULH7.
PaxDbiQ9ULH7.
PeptideAtlasiQ9ULH7.
PRIDEiQ9ULH7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000318282; ENSP00000339086; ENSG00000186260. [Q9ULH7-4]
ENST00000571589; ENSP00000459626; ENSG00000186260. [Q9ULH7-5]
ENST00000573051; ENSP00000460589; ENSG00000186260. [Q9ULH7-2]
ENST00000574045; ENSP00000459205; ENSG00000186260. [Q9ULH7-4]
GeneIDi57496.
KEGGihsa:57496.
UCSCiuc002dcg.4. human. [Q9ULH7-1]

Organism-specific databases

CTDi57496.
DisGeNETi57496.
GeneCardsiMKL2.
H-InvDBHIX0012829.
HGNCiHGNC:29819. MKL2.
HPAiHPA011286.
MIMi609463. gene.
neXtProtiNX_Q9ULH7.
OpenTargetsiENSG00000186260.
PharmGKBiPA134981329.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFJX. Eukaryota.
ENOG41101AM. LUCA.
GeneTreeiENSGT00530000063195.
HOGENOMiHOG000038001.
HOVERGENiHBG036493.
InParanoidiQ9ULH7.
OMAiKPYQEVN.
OrthoDBiEOG091G01ZY.
PhylomeDBiQ9ULH7.
TreeFamiTF326024.

Enzyme and pathway databases

SIGNORiQ9ULH7.

Miscellaneous databases

ChiTaRSiMKL2. human.
GeneWikiiMKL2.
GenomeRNAii57496.
PMAP-CutDBQ9ULH7.
PROiQ9ULH7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000186260.
CleanExiHS_MKL2.
ExpressionAtlasiQ9ULH7. baseline and differential.
GenevisibleiQ9ULH7. HS.

Family and domain databases

Gene3Di1.10.720.30. 1 hit.
InterProiIPR004018. RPEL_repeat.
IPR003034. SAP_dom.
[Graphical view]
PfamiPF02755. RPEL. 2 hits.
PF02037. SAP. 1 hit.
[Graphical view]
SMARTiSM00707. RPEL. 3 hits.
SM00513. SAP. 1 hit.
[Graphical view]
PROSITEiPS51073. RPEL. 3 hits.
PS50800. SAP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMKL2_HUMAN
AccessioniPrimary (citable) accession number: Q9ULH7
Secondary accession number(s): A6ND53
, B4DGT8, Q68CT1, Q6UB16, Q86WW2, Q8N226
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 27, 2003
Last sequence update: June 27, 2003
Last modified: November 2, 2016
This is version 139 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.