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MRTFB myocardin related transcription factor B [ Homo sapiens (human) ]

Gene ID: 57496, updated on 11-Jun-2021

Summary

Official Symbol
MRTFBprovided by HGNC
Official Full Name
myocardin related transcription factor Bprovided by HGNC
Primary source
HGNC:HGNC:29819
See related
Ensembl:ENSG00000186260 MIM:609463
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MKL2; MRTF-B; NPD001
Expression
Ubiquitous expression in brain (RPKM 11.0), testis (RPKM 5.1) and 24 other tissues See more
Orthologs
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Genomic context

See MRTFB in Genome Data Viewer
Location:
16p13.12
Exon count:
25
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (14071062..14266779)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (14164919..14360636)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2185 Neighboring gene long intergenic non-protein coding RNA 2186 Neighboring gene TVP23C pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 5476 Neighboring gene tRNA-Thr (anticodon CGT) 2-1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
GeneReviews: Not available
Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty.
GeneReviews: Not available
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
GeneReviews: Not available
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
GeneReviews: Not available
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
GeneReviews: Not available
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
integrase gag-pol Analysis of HIV-1 proviral integration sites in antiretroviral treatment patients indicates that MKL2 gene favors HIV-1 integration for expansion and persistence of infected cells, suggesting HIV-1 IN interacts with MKL2 PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ31823, FLJ45623, DKFZp686J1745

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cadherin binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transcription coactivator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IC
Inferred by Curator
more info
PubMed 

General protein information

Preferred Names
myocardin-related transcription factor B
Names
CTA-276F8.1
MKL and myocardin family member 2
MKL/myocardin like 2
MKL/myocardin-like protein 2
MKL1/myocardin like 2
megakaryoblastic leukemia 2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001308142.2NP_001295071.1  myocardin-related transcription factor B isoform 1

    See identical proteins and their annotated locations for NP_001295071.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC012626, AC040173, AC130650
    Consensus CDS
    CCDS76823.1
    UniProtKB/Swiss-Prot
    Q9ULH7
    Related
    ENSP00000459626.2, ENST00000571589.6
    Conserved Domains (6) summary
    PHA03247
    Location:197410
    PHA03247; large tegument protein UL36; Provisional
    pfam02037
    Location:400433
    SAP; SAP domain
    pfam02755
    Location:141163
    RPEL; RPEL repeat
    pfam09903
    Location:568628
    DUF2130; Uncharacterized protein conserved in bacteria (DUF2130)
    cl29414
    Location:5276
    RPEL; RPEL repeat
    cl41773
    Location:649826
    SP1-4_N; N-terminal domain of transcription factor Specificity Proteins (SP) 1-4
  2. NM_001365411.2NP_001352340.1  myocardin-related transcription factor B isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC012626, AC040173, AC130650
    Conserved Domains (5) summary
    smart00707
    Location:128153
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02037
    Location:389422
    SAP; SAP domain
    pfam02755
    Location:85107
    RPEL; RPEL repeat
    cl26464
    Location:186399
    Atrophin-1; Atrophin-1 family
    cl26585
    Location:557594
    DUF2130; Uncharacterized protein conserved in bacteria (DUF2130)
  3. NM_001365412.2NP_001352341.1  myocardin-related transcription factor B isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC012626, AC040173, AC130650
    Conserved Domains (6) summary
    PHA03247
    Location:197410
    PHA03247; large tegument protein UL36; Provisional
    pfam02037
    Location:400433
    SAP; SAP domain
    pfam02755
    Location:141163
    RPEL; RPEL repeat
    pfam09903
    Location:568628
    DUF2130; Uncharacterized protein conserved in bacteria (DUF2130)
    cl29414
    Location:5276
    RPEL; RPEL repeat
    cl41773
    Location:649826
    SP1-4_N; N-terminal domain of transcription factor Specificity Proteins (SP) 1-4
  4. NM_001365413.2NP_001352342.1  myocardin-related transcription factor B isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC012626, AC040173, AC130650
    Conserved Domains (6) summary
    smart00707
    Location:6893
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    PHA03247
    Location:126339
    PHA03247; large tegument protein UL36; Provisional
    TIGR02784
    Location:121203
    addA_alphas; double-strand break repair helicase AddA, alphaproteobacterial type
    pfam02037
    Location:332362
    SAP; SAP domain
    pfam02755
    Location:2548
    RPEL; RPEL repeat
    pfam09903
    Location:497534
    DUF2130; Uncharacterized protein conserved in bacteria (DUF2130)
  5. NM_001365414.2NP_001352343.1  myocardin-related transcription factor B isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC012626, AC040173, AC130650
    Conserved Domains (7) summary
    smart00707
    Location:6893
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02037
    Location:329362
    SAP; SAP domain
    pfam02755
    Location:2547
    RPEL; RPEL repeat
    cl26464
    Location:126339
    Atrophin-1; Atrophin-1 family
    cl26585
    Location:497534
    DUF2130; Uncharacterized protein conserved in bacteria (DUF2130)
    cl28087
    Location:538725
    FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]
    cl28312
    Location:121203
    UvrD; Superfamily I DNA or RNA helicase [Replication, recombination and repair]
  6. NM_001365415.2NP_001352344.1  myocardin-related transcription factor B isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC012626, AC040173, AC130650
    Related
    ENSP00000459879.1, ENST00000572567.5
    Conserved Domains (3) summary
    smart00707
    Location:128153
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:85107
    RPEL; RPEL repeat
    cl26464
    Location:186310
    Atrophin-1; Atrophin-1 family
  7. NM_001365416.2NP_001352345.1  myocardin-related transcription factor B isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC012626, AC040173, AC130650
    Conserved Domains (3) summary
    smart00707
    Location:6893
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:2547
    RPEL; RPEL repeat
    cl28312
    Location:121203
    UvrD; Superfamily I DNA or RNA helicase [Replication, recombination and repair]
  8. NM_001365417.3NP_001352346.1  myocardin-related transcription factor B isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC130650
  9. NM_001365418.3NP_001352347.1  myocardin-related transcription factor B isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC130650
  10. NM_001365419.3NP_001352348.1  myocardin-related transcription factor B isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC130650
  11. NM_001365420.3NP_001352349.1  myocardin-related transcription factor B isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC130650
  12. NM_001365421.3NP_001352350.1  myocardin-related transcription factor B isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC130650
  13. NM_014048.4NP_054767.3  myocardin-related transcription factor B isoform 2

    See identical proteins and their annotated locations for NP_054767.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC040173, AC130650, AY374297, BC016293
    Consensus CDS
    CCDS32391.1
    UniProtKB/Swiss-Prot
    Q9ULH7
    Related
    ENSP00000459205.1, ENST00000574045.5
    Conserved Domains (8) summary
    smart00707
    Location:139164
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    PHA03247
    Location:197410
    PHA03247; large tegument protein UL36; Provisional
    PRK10263
    Location:609796
    PRK10263; DNA translocase FtsK; Provisional
    TIGR02784
    Location:192274
    addA_alphas; double-strand break repair helicase AddA, alphaproteobacterial type
    pfam02037
    Location:403433
    SAP; SAP domain
    pfam02755
    Location:96119
    RPEL; RPEL repeat
    pfam09903
    Location:568605
    DUF2130; Uncharacterized protein conserved in bacteria (DUF2130)
    cl29414
    Location:5276
    RPEL; RPEL repeat

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    14071062..14266779
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023501.2XP_016878990.1  myocardin-related transcription factor B isoform X1

    UniProtKB/Swiss-Prot
    Q9ULH7
    Conserved Domains (6) summary
    PHA03247
    Location:197410
    PHA03247; large tegument protein UL36; Provisional
    pfam02037
    Location:400433
    SAP; SAP domain
    pfam02755
    Location:141163
    RPEL; RPEL repeat
    pfam09903
    Location:568628
    DUF2130; Uncharacterized protein conserved in bacteria (DUF2130)
    cl29414
    Location:5276
    RPEL; RPEL repeat
    cl41773
    Location:649826
    SP1-4_N; N-terminal domain of transcription factor Specificity Proteins (SP) 1-4
  2. XM_005255452.3XP_005255509.1  myocardin-related transcription factor B isoform X1

    See identical proteins and their annotated locations for XP_005255509.1

    UniProtKB/Swiss-Prot
    Q9ULH7
    Conserved Domains (6) summary
    PHA03247
    Location:197410
    PHA03247; large tegument protein UL36; Provisional
    pfam02037
    Location:400433
    SAP; SAP domain
    pfam02755
    Location:141163
    RPEL; RPEL repeat
    pfam09903
    Location:568628
    DUF2130; Uncharacterized protein conserved in bacteria (DUF2130)
    cl29414
    Location:5276
    RPEL; RPEL repeat
    cl41773
    Location:649826
    SP1-4_N; N-terminal domain of transcription factor Specificity Proteins (SP) 1-4
  3. XM_006720914.2XP_006720977.1  myocardin-related transcription factor B isoform X6

    See identical proteins and their annotated locations for XP_006720977.1

    UniProtKB/Swiss-Prot
    Q9ULH7
    Conserved Domains (8) summary
    smart00707
    Location:139164
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    PHA03247
    Location:197410
    PHA03247; large tegument protein UL36; Provisional
    PRK10263
    Location:609796
    PRK10263; DNA translocase FtsK; Provisional
    TIGR02784
    Location:192274
    addA_alphas; double-strand break repair helicase AddA, alphaproteobacterial type
    pfam02037
    Location:403433
    SAP; SAP domain
    pfam02755
    Location:96119
    RPEL; RPEL repeat
    pfam09903
    Location:568605
    DUF2130; Uncharacterized protein conserved in bacteria (DUF2130)
    cl29414
    Location:5276
    RPEL; RPEL repeat
  4. XM_006720909.4XP_006720972.1  myocardin-related transcription factor B isoform X1

    See identical proteins and their annotated locations for XP_006720972.1

    UniProtKB/Swiss-Prot
    Q9ULH7
    Conserved Domains (6) summary
    PHA03247
    Location:197410
    PHA03247; large tegument protein UL36; Provisional
    pfam02037
    Location:400433
    SAP; SAP domain
    pfam02755
    Location:141163
    RPEL; RPEL repeat
    pfam09903
    Location:568628
    DUF2130; Uncharacterized protein conserved in bacteria (DUF2130)
    cl29414
    Location:5276
    RPEL; RPEL repeat
    cl41773
    Location:649826
    SP1-4_N; N-terminal domain of transcription factor Specificity Proteins (SP) 1-4
  5. XM_011522568.2XP_011520870.1  myocardin-related transcription factor B isoform X1

    See identical proteins and their annotated locations for XP_011520870.1

    UniProtKB/Swiss-Prot
    Q9ULH7
    Conserved Domains (6) summary
    PHA03247
    Location:197410
    PHA03247; large tegument protein UL36; Provisional
    pfam02037
    Location:400433
    SAP; SAP domain
    pfam02755
    Location:141163
    RPEL; RPEL repeat
    pfam09903
    Location:568628
    DUF2130; Uncharacterized protein conserved in bacteria (DUF2130)
    cl29414
    Location:5276
    RPEL; RPEL repeat
    cl41773
    Location:649826
    SP1-4_N; N-terminal domain of transcription factor Specificity Proteins (SP) 1-4
  6. XM_017023502.1XP_016878991.1  myocardin-related transcription factor B isoform X1

    UniProtKB/Swiss-Prot
    Q9ULH7
    Conserved Domains (6) summary
    PHA03247
    Location:197410
    PHA03247; large tegument protein UL36; Provisional
    pfam02037
    Location:400433
    SAP; SAP domain
    pfam02755
    Location:141163
    RPEL; RPEL repeat
    pfam09903
    Location:568628
    DUF2130; Uncharacterized protein conserved in bacteria (DUF2130)
    cl29414
    Location:5276
    RPEL; RPEL repeat
    cl41773
    Location:649826
    SP1-4_N; N-terminal domain of transcription factor Specificity Proteins (SP) 1-4
  7. XM_006720908.4XP_006720971.1  myocardin-related transcription factor B isoform X1

    See identical proteins and their annotated locations for XP_006720971.1

    UniProtKB/Swiss-Prot
    Q9ULH7
    Conserved Domains (6) summary
    PHA03247
    Location:197410
    PHA03247; large tegument protein UL36; Provisional
    pfam02037
    Location:400433
    SAP; SAP domain
    pfam02755
    Location:141163
    RPEL; RPEL repeat
    pfam09903
    Location:568628
    DUF2130; Uncharacterized protein conserved in bacteria (DUF2130)
    cl29414
    Location:5276
    RPEL; RPEL repeat
    cl41773
    Location:649826
    SP1-4_N; N-terminal domain of transcription factor Specificity Proteins (SP) 1-4
  8. XM_005255453.5XP_005255510.1  myocardin-related transcription factor B isoform X1

    See identical proteins and their annotated locations for XP_005255510.1

    UniProtKB/Swiss-Prot
    Q9ULH7
    Conserved Domains (6) summary
    PHA03247
    Location:197410
    PHA03247; large tegument protein UL36; Provisional
    pfam02037
    Location:400433
    SAP; SAP domain
    pfam02755
    Location:141163
    RPEL; RPEL repeat
    pfam09903
    Location:568628
    DUF2130; Uncharacterized protein conserved in bacteria (DUF2130)
    cl29414
    Location:5276
    RPEL; RPEL repeat
    cl41773
    Location:649826
    SP1-4_N; N-terminal domain of transcription factor Specificity Proteins (SP) 1-4
  9. XM_017023503.2XP_016878992.1  myocardin-related transcription factor B isoform X4

    Conserved Domains (7) summary
    smart00707
    Location:102127
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    PHA03247
    Location:160373
    PHA03247; large tegument protein UL36; Provisional
    TIGR02784
    Location:155237
    addA_alphas; double-strand break repair helicase AddA, alphaproteobacterial type
    pfam02037
    Location:366396
    SAP; SAP domain
    pfam02755
    Location:5982
    RPEL; RPEL repeat
    pfam09903
    Location:531568
    DUF2130; Uncharacterized protein conserved in bacteria (DUF2130)
    cl29414
    Location:1539
    RPEL; RPEL repeat
  10. XM_017023504.1XP_016878993.1  myocardin-related transcription factor B isoform X7

    Conserved Domains (6) summary
    smart00707
    Location:128153
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    PHA03247
    Location:186399
    PHA03247; large tegument protein UL36; Provisional
    PRK10263
    Location:598785
    PRK10263; DNA translocase FtsK; Provisional
    pfam02037
    Location:392422
    SAP; SAP domain
    pfam02755
    Location:85108
    RPEL; RPEL repeat
    pfam09903
    Location:557594
    DUF2130; Uncharacterized protein conserved in bacteria (DUF2130)
  11. XM_011522569.2XP_011520871.1  myocardin-related transcription factor B isoform X8

    See identical proteins and their annotated locations for XP_011520871.1

    Conserved Domains (6) summary
    smart00707
    Location:6893
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    PHA03247
    Location:126339
    PHA03247; large tegument protein UL36; Provisional
    TIGR02784
    Location:121203
    addA_alphas; double-strand break repair helicase AddA, alphaproteobacterial type
    pfam02037
    Location:332362
    SAP; SAP domain
    pfam02755
    Location:2548
    RPEL; RPEL repeat
    pfam09903
    Location:497534
    DUF2130; Uncharacterized protein conserved in bacteria (DUF2130)
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