Format

Send to:

Choose Destination

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

Gene ID: 57496, updated on 6-Jan-2019

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

Genomic context

See MRTFB in Genome Data Viewer
Location:
16p13.12
Exon count:
25
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (14071072..14266779)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (14165178..14360633)

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 transfer RNA-Thr (CGT) 2-1 Neighboring gene MIR193B host gene Neighboring gene microRNA 193b

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
NHGRI GWA Catalog
Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty.
NHGRI GWA Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
NHGRI GWA Catalog
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
NHGRI GWA Catalog
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
NHGRI GWA Catalog

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
cadherin binding HDA PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
muscle organ development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of striated muscle tissue development IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
smooth muscle cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
nucleus IC
Inferred by Curator
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001308142.1NP_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)
    AI498641, AK294765, BX641041, DB114294
    Consensus CDS
    CCDS76823.1
    UniProtKB/Swiss-Prot
    Q9ULH7
    Related
    ENSP00000459626.1, ENST00000571589.5
    Conserved Domains (6) summary
    smart00707
    Location:139164
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02037
    Location:400433
    SAP; SAP domain
    pfam02755
    Location:96118
    RPEL; RPEL repeat
    cl26464
    Location:197410
    Atrophin-1; Atrophin-1 family
    cl26585
    Location:568605
    DUF2130; Uncharacterized protein conserved in bacteria (DUF2130)
    cl28312
    Location:192274
    UvrD; Superfamily I DNA or RNA helicase [Replication, recombination and repair]
  2. NM_001365411.1NP_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_001365412.1NP_001352341.1  myocardin-related transcription factor B isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC012626, AC040173, AC130650
    Conserved Domains (6) summary
    smart00707
    Location:139164
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02037
    Location:400433
    SAP; SAP domain
    pfam02755
    Location:96118
    RPEL; RPEL repeat
    cl26464
    Location:197410
    Atrophin-1; Atrophin-1 family
    cl26585
    Location:568605
    DUF2130; Uncharacterized protein conserved in bacteria (DUF2130)
    cl28312
    Location:192274
    UvrD; Superfamily I DNA or RNA helicase [Replication, recombination and repair]
  4. NM_001365413.1NP_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
    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)
    cl28312
    Location:121203
    UvrD; Superfamily I DNA or RNA helicase [Replication, recombination and repair]
  5. NM_001365414.1NP_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_001365415.1NP_001352344.1  myocardin-related transcription factor B isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC012626, AC040173, AC130650
    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_001365416.1NP_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_001365417.1NP_001352346.1  myocardin-related transcription factor B isoform 9

    Status: VALIDATED

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

    Status: VALIDATED

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

    Status: VALIDATED

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

    Status: VALIDATED

    Source sequence(s)
    AC130650
  12. NM_001365421.1NP_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 (7) summary
    smart00707
    Location:139164
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02037
    Location:400433
    SAP; SAP domain
    pfam02755
    Location:96118
    RPEL; RPEL repeat
    cl26464
    Location:197410
    Atrophin-1; Atrophin-1 family
    cl26585
    Location:568605
    DUF2130; Uncharacterized protein conserved in bacteria (DUF2130)
    cl28087
    Location:609796
    FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]
    cl28312
    Location:192274
    UvrD; Superfamily I DNA or RNA helicase [Replication, recombination and repair]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    14071072..14266779
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023501.2XP_016878990.1  MKL/myocardin-like protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q9ULH7
    Conserved Domains (6) summary
    smart00707
    Location:139164
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02037
    Location:400433
    SAP; SAP domain
    pfam02755
    Location:96118
    RPEL; RPEL repeat
    cl26464
    Location:197410
    Atrophin-1; Atrophin-1 family
    cl26585
    Location:568605
    DUF2130; Uncharacterized protein conserved in bacteria (DUF2130)
    cl28312
    Location:192274
    UvrD; Superfamily I DNA or RNA helicase [Replication, recombination and repair]
  2. XM_005255452.3XP_005255509.1  MKL/myocardin-like protein 2 isoform X1

    See identical proteins and their annotated locations for XP_005255509.1

    UniProtKB/Swiss-Prot
    Q9ULH7
    Conserved Domains (6) summary
    smart00707
    Location:139164
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02037
    Location:400433
    SAP; SAP domain
    pfam02755
    Location:96118
    RPEL; RPEL repeat
    cl26464
    Location:197410
    Atrophin-1; Atrophin-1 family
    cl26585
    Location:568605
    DUF2130; Uncharacterized protein conserved in bacteria (DUF2130)
    cl28312
    Location:192274
    UvrD; Superfamily I DNA or RNA helicase [Replication, recombination and repair]
  3. XM_006720913.2XP_006720976.1  MKL/myocardin-like protein 2 isoform X5

    Conserved Domains (6) summary
    smart00707
    Location:139164
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02037
    Location:400433
    SAP; SAP domain
    pfam02755
    Location:96118
    RPEL; RPEL repeat
    cl26464
    Location:197410
    Atrophin-1; Atrophin-1 family
    cl26585
    Location:568605
    DUF2130; Uncharacterized protein conserved in bacteria (DUF2130)
    cl28312
    Location:192274
    UvrD; Superfamily I DNA or RNA helicase [Replication, recombination and repair]
  4. XM_006720914.2XP_006720977.1  MKL/myocardin-like protein 2 isoform X6

    See identical proteins and their annotated locations for XP_006720977.1

    UniProtKB/Swiss-Prot
    Q9ULH7
    Conserved Domains (7) summary
    smart00707
    Location:139164
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02037
    Location:400433
    SAP; SAP domain
    pfam02755
    Location:96118
    RPEL; RPEL repeat
    cl26464
    Location:197410
    Atrophin-1; Atrophin-1 family
    cl26585
    Location:568605
    DUF2130; Uncharacterized protein conserved in bacteria (DUF2130)
    cl28087
    Location:609796
    FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]
    cl28312
    Location:192274
    UvrD; Superfamily I DNA or RNA helicase [Replication, recombination and repair]
  5. XM_006720909.4XP_006720972.1  MKL/myocardin-like protein 2 isoform X1

    See identical proteins and their annotated locations for XP_006720972.1

    UniProtKB/Swiss-Prot
    Q9ULH7
    Conserved Domains (6) summary
    smart00707
    Location:139164
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02037
    Location:400433
    SAP; SAP domain
    pfam02755
    Location:96118
    RPEL; RPEL repeat
    cl26464
    Location:197410
    Atrophin-1; Atrophin-1 family
    cl26585
    Location:568605
    DUF2130; Uncharacterized protein conserved in bacteria (DUF2130)
    cl28312
    Location:192274
    UvrD; Superfamily I DNA or RNA helicase [Replication, recombination and repair]
  6. XM_011522568.2XP_011520870.1  MKL/myocardin-like protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011520870.1

    UniProtKB/Swiss-Prot
    Q9ULH7
    Conserved Domains (6) summary
    smart00707
    Location:139164
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02037
    Location:400433
    SAP; SAP domain
    pfam02755
    Location:96118
    RPEL; RPEL repeat
    cl26464
    Location:197410
    Atrophin-1; Atrophin-1 family
    cl26585
    Location:568605
    DUF2130; Uncharacterized protein conserved in bacteria (DUF2130)
    cl28312
    Location:192274
    UvrD; Superfamily I DNA or RNA helicase [Replication, recombination and repair]
  7. XM_017023502.1XP_016878991.1  MKL/myocardin-like protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q9ULH7
    Conserved Domains (6) summary
    smart00707
    Location:139164
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02037
    Location:400433
    SAP; SAP domain
    pfam02755
    Location:96118
    RPEL; RPEL repeat
    cl26464
    Location:197410
    Atrophin-1; Atrophin-1 family
    cl26585
    Location:568605
    DUF2130; Uncharacterized protein conserved in bacteria (DUF2130)
    cl28312
    Location:192274
    UvrD; Superfamily I DNA or RNA helicase [Replication, recombination and repair]
  8. XM_006720908.4XP_006720971.1  MKL/myocardin-like protein 2 isoform X1

    See identical proteins and their annotated locations for XP_006720971.1

    UniProtKB/Swiss-Prot
    Q9ULH7
    Conserved Domains (6) summary
    smart00707
    Location:139164
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02037
    Location:400433
    SAP; SAP domain
    pfam02755
    Location:96118
    RPEL; RPEL repeat
    cl26464
    Location:197410
    Atrophin-1; Atrophin-1 family
    cl26585
    Location:568605
    DUF2130; Uncharacterized protein conserved in bacteria (DUF2130)
    cl28312
    Location:192274
    UvrD; Superfamily I DNA or RNA helicase [Replication, recombination and repair]
  9. XM_005255453.5XP_005255510.1  MKL/myocardin-like protein 2 isoform X1

    See identical proteins and their annotated locations for XP_005255510.1

    UniProtKB/Swiss-Prot
    Q9ULH7
    Conserved Domains (6) summary
    smart00707
    Location:139164
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02037
    Location:400433
    SAP; SAP domain
    pfam02755
    Location:96118
    RPEL; RPEL repeat
    cl26464
    Location:197410
    Atrophin-1; Atrophin-1 family
    cl26585
    Location:568605
    DUF2130; Uncharacterized protein conserved in bacteria (DUF2130)
    cl28312
    Location:192274
    UvrD; Superfamily I DNA or RNA helicase [Replication, recombination and repair]
  10. XM_017023503.2XP_016878992.1  MKL/myocardin-like protein 2 isoform X4

  11. XM_017023505.2XP_016878994.1  MKL/myocardin-like protein 2 isoform X9

  12. XM_006720912.4XP_006720975.1  MKL/myocardin-like protein 2 isoform X3

    Conserved Domains (5) summary
    smart00707
    Location:110135
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02037
    Location:371404
    SAP; SAP domain
    pfam02755
    Location:6889
    RPEL; RPEL repeat
    pfam04929
    Location:175280
    Herpes_DNAp_acc; Herpes DNA replication accessory factor
    pfam09903
    Location:539576
    DUF2130; Uncharacterized protein conserved in bacteria (DUF2130)
  13. XM_005255455.3XP_005255512.1  MKL/myocardin-like protein 2 isoform X2

    UniProtKB/Swiss-Prot
    Q9ULH7
    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)
  14. XM_017023504.1XP_016878993.1  MKL/myocardin-like protein 2 isoform X7

  15. XM_011522569.2XP_011520871.1  MKL/myocardin-like protein 2 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
    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)
    cl28312
    Location:121203
    UvrD; Superfamily I DNA or RNA helicase [Replication, recombination and repair]
Support Center