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PPP1R12B protein phosphatase 1 regulatory subunit 12B [ Homo sapiens (human) ]

Gene ID: 4660, updated on 9-Dec-2024

Summary

Official Symbol
PPP1R12Bprovided by HGNC
Official Full Name
protein phosphatase 1 regulatory subunit 12Bprovided by HGNC
Primary source
HGNC:HGNC:7619
See related
Ensembl:ENSG00000077157 MIM:603768; AllianceGenome:HGNC:7619
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MYPT2; PP1bp55
Summary
Myosin phosphatase is a protein complex comprised of three subunits: a catalytic subunit (PP1c-delta, protein phosphatase 1, catalytic subunit delta), a large regulatory subunit (MYPT, myosin phosphatase target) and small regulatory subunit (sm-M20). Two isoforms of MYPT have been isolated--MYPT1 and MYPT2, the first of which is widely expressed, and the second of which may be specific to heart, skeletal muscle, and brain. Each of the MYPT isoforms functions to bind PP1c-delta and increase phosphatase activity. This locus encodes both MYTP2 and M20. Alternatively spliced transcript variants encoding different isoforms have been identified. Related pseudogenes have been defined on the Y chromosome. [provided by RefSeq, Oct 2011]
Expression
Broad expression in heart (RPKM 45.5), endometrium (RPKM 24.6) and 17 other tissues See more
Orthologs
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Genomic context

See PPP1R12B in Genome Data Viewer
Location:
1q32.1
Exon count:
33
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (202348699..202592702)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (201610813..201854508)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (202317827..202561830)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929388 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:202204747-202205439 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2333 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:202210709-202211209 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2334 Neighboring gene leucine rich repeat containing G protein-coupled receptor 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:202233148-202233648 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:202287549-202287709 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:202305669-202306193 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:202306194-202306717 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:202310134-202310759 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1701 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:202317574-202318114 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:202328014-202328965 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:202330368-202331110 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:202331111-202331852 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:202333448-202334185 Neighboring gene MPRA-validated peak653 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:202347411-202347912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:202347913-202348412 Neighboring gene NANOG hESC enhancer GRCh37_chr1:202348949-202349479 Neighboring gene ubiquitin conjugating enzyme E2 T Neighboring gene ReSE screen-validated silencer GRCh37_chr1:202368272-202368533 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:202388755-202389318 Neighboring gene CYCS pseudogene 4 Neighboring gene MPRA-validated peak654 silencer Neighboring gene FKBP prolyl isomerase 8 pseudogene Neighboring gene RNA, U6 small nuclear 89, pseudogene Neighboring gene MPRA-validated peak655 silencer Neighboring gene Sharpr-MPRA regulatory region 7043 Neighboring gene Sharpr-MPRA regulatory region 4568 Neighboring gene ribosomal protein S27 pseudogene 8 Neighboring gene Sharpr-MPRA regulatory region 13016 Neighboring gene small nucleolar RNA SNORA70 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:202536800-202537472 Neighboring gene Sharpr-MPRA regulatory region 13308 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:202557917-202559116 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:202560242-202561068 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:202591842-202592466 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:202606743-202607308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:202611908-202612840 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:202626482-202626641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:202627175-202627676 Neighboring gene synaptotagmin 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:202640443-202640943 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:202645972-202646140 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:202671295-202671794 Neighboring gene lysine demethylase 5B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:202764986-202765486 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:202765487-202765987 Neighboring gene COX7C pseudogene 2 Neighboring gene solute carrier family 25 member 39 pseudogene 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

EBI GWAS Catalog

Description
A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog
RTN4 and FBXL17 Genes are Associated with Coronary Heart Disease in Genome-Wide Association Analysis of Lithuanian Families.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ40942, MGC87886, MGC131980

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables enzyme activator activity TAS
Traceable Author Statement
more info
PubMed 
enables enzyme inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables myosin phosphatase regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in neuron projection morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in regulation of muscle contraction TAS
Traceable Author Statement
more info
PubMed 
involved_in signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in A band IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in A band ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in Z disc IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in Z disc ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in stress fiber IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein phosphatase 1 regulatory subunit 12B
Names
myosin phosphatase target subunit 2
myosin phosphatase-targeting subunit 2
protein phosphatase 1, regulatory (inhibitor) subunit 12B
NP_001161329.1
NP_001161330.1
NP_001184060.1
NP_001317958.1
NP_001397212.1
NP_002472.2
NP_115286.1
NP_115287.1
XP_005245263.1
XP_016856831.1
XP_016856832.1
XP_016856834.1
XP_016856841.1
XP_016856844.1
XP_047277165.1
XP_047277166.1
XP_054192710.1
XP_054192711.1
XP_054192712.1
XP_054192713.1
XP_054192714.1
XP_054192715.1
XP_054192716.1
XP_054192717.1

NCBI Reference Sequences (RefSeq)

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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_001167857.2NP_001161329.1  protein phosphatase 1 regulatory subunit 12B isoform e

    See identical proteins and their annotated locations for NP_001161329.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 3' coding region and 3' UTR, compared to variant 8. The resulting isoform (e) is shorter than isoform h.
    Source sequence(s)
    AL356953, BC110907, DA075060
    Consensus CDS
    CCDS53458.1
    UniProtKB/Swiss-Prot
    O60237
    Related
    ENSP00000417159.1, ENST00000480184.5
    Conserved Domains (3) summary
    cd00204
    Location:85269
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:90121
    ANK; ANK repeat [structural motif]
    cl26073
    Location:65348
    Ank_2; Ankyrin repeats (3 copies)
  2. NM_001167858.2NP_001161330.1  protein phosphatase 1 regulatory subunit 12B isoform f

    See identical proteins and their annotated locations for NP_001161330.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 3' coding region and 3' UTR, compared to variant 8. The resulting isoform (f) has a distinct C-terminus and is shorter than isoform h.
    Source sequence(s)
    AL356953, BC034430, DA075060
    Consensus CDS
    CCDS53459.1
    UniProtKB/TrEMBL
    A0A0S2Z473
    Related
    ENSP00000349206.2, ENST00000356764.6
    Conserved Domains (3) summary
    cd00204
    Location:85269
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:90121
    ANK; ANK repeat [structural motif]
    cl26073
    Location:65348
    Ank_2; Ankyrin repeats (3 copies)
  3. NM_001197131.1NP_001184060.1  protein phosphatase 1 regulatory subunit 12B isoform g

    See identical proteins and their annotated locations for NP_001184060.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 8. The encoded isoform (g) has a distinct N-terminus and is shorter than isoform h.
    Source sequence(s)
    AB588820, AF324888, BC144699
    Consensus CDS
    CCDS73005.1
    UniProtKB/TrEMBL
    E1CKY7
    Related
    ENSP00000488930.1, ENST00000634903.1
    Conserved Domains (1) summary
    pfam15898
    Location:85185
    PRKG1_interact; cGMP-dependent protein kinase interacting domain
  4. NM_001331029.2NP_001317958.1  protein phosphatase 1 regulatory subunit 12B isoform h

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) represents the longest transcript and encodes the longest isoform (h).
    Source sequence(s)
    AC099336, AC118556, AL356953, AL589762
    Consensus CDS
    CCDS81416.1
    Related
    ENSP00000375821.5, ENST00000391959.5
  5. NM_001410283.1NP_001397212.1  protein phosphatase 1 regulatory subunit 12B isoform b

    Status: REVIEWED

    Source sequence(s)
    AC099336, AC118556, AL356953, AL589762
    Consensus CDS
    CCDS30973.1
    UniProtKB/TrEMBL
    A0A994J7P4
    Related
    ENSP00000516058.1, ENST00000704899.1
  6. NM_002481.4NP_002472.2  protein phosphatase 1 regulatory subunit 12B isoform a

    See identical proteins and their annotated locations for NP_002472.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an alternate in-frame exon compared to variant 8. The resulting isoform (a, also known as the large myosin binding subunit) has the same N- and C-termini but is shorter compared to isoform h.
    Source sequence(s)
    AC099336, AC118556, AF324888, AK307591, AL356953, BC144699
    Consensus CDS
    CCDS1426.1
    UniProtKB/Swiss-Prot
    A0A0A0MS24, A8MYF5, B7ZMN6, O60237, Q2TAI8, Q5T506, Q5VUK2, Q8N179, Q9HCB7, Q9HCB8
    Related
    ENSP00000476755.1, ENST00000608999.6
    Conserved Domains (5) summary
    cd00204
    Location:85269
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:65154
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:219269
    Ank_4; Ankyrin repeats (many copies)
    pfam15898
    Location:881981
    PRKG1_interact; cGMP-dependent protein kinase interacting domain
    sd00045
    Location:90121
    ANK; ANK repeat [structural motif]
  7. NM_032103.3NP_115286.1  protein phosphatase 1 regulatory subunit 12B isoform c

    See identical proteins and their annotated locations for NP_115286.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 8. The encoded isoform (c, also known as sm-M20 or hHS-M21 A) is shorter than isoform h.
    Source sequence(s)
    AB050641, AC099336, AC118556, AF324888, BC144699, BX501884
    Consensus CDS
    CCDS44294.1
    UniProtKB/Swiss-Prot
    O60237
    Related
    ENSP00000480852.1, ENST00000491336.5
    Conserved Domains (1) summary
    pfam15898
    Location:107207
    PRKG1_interact; cGMP-dependent protein kinase interacting domain
  8. NM_032104.3NP_115287.1  protein phosphatase 1 regulatory subunit 12B isoform d

    See identical proteins and their annotated locations for NP_115287.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 8. The encoded isoform (d, also known as sm-M20 or hHS-M21 B) is shorter than isoform h.
    Source sequence(s)
    AB050642, AC099336, AC118556, AF324888, BC144699, BX501884
    Consensus CDS
    CCDS44295.1
    UniProtKB/Swiss-Prot
    O60237
    Related
    ENSP00000484005.1, ENST00000290419.9
    Conserved Domains (1) summary
    pfam15898
    Location:107213
    PRKG1_interact; cGMP-dependent protein kinase interacting domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    202348699..202592702
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001345.2XP_016856834.1  protein phosphatase 1 regulatory subunit 12B isoform X3

  2. XM_017001342.2XP_016856831.1  protein phosphatase 1 regulatory subunit 12B isoform X1

  3. XM_017001343.2XP_016856832.1  protein phosphatase 1 regulatory subunit 12B isoform X2

  4. XM_047421209.1XP_047277165.1  protein phosphatase 1 regulatory subunit 12B isoform X4

  5. XM_005245206.5XP_005245263.1  protein phosphatase 1 regulatory subunit 12B isoform X6

    Conserved Domains (4) summary
    cd00204
    Location:85269
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:65154
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:219269
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:90121
    ANK; ANK repeat [structural motif]
  6. XM_047421210.1XP_047277166.1  protein phosphatase 1 regulatory subunit 12B isoform X5

  7. XM_017001352.2XP_016856841.1  protein phosphatase 1 regulatory subunit 12B isoform X7

    UniProtKB/Swiss-Prot
    O60237
    Conserved Domains (1) summary
    pfam15898
    Location:107213
    PRKG1_interact; cGMP-dependent protein kinase interacting domain
  8. XM_017001355.3XP_016856844.1  protein phosphatase 1 regulatory subunit 12B isoform X8

    UniProtKB/TrEMBL
    E1CKY7
    Conserved Domains (1) summary
    pfam15898
    Location:85185
    PRKG1_interact; cGMP-dependent protein kinase interacting domain

RNA

  1. XR_001737195.2 RNA Sequence

  2. XR_007060689.1 RNA Sequence

  3. XR_007060690.1 RNA Sequence

  4. XR_007060691.1 RNA Sequence

  5. XR_001737199.2 RNA Sequence

  6. XR_001737201.3 RNA Sequence

  7. XR_001737196.3 RNA Sequence

  8. XR_007060692.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    201610813..201854508
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054336737.1XP_054192712.1  protein phosphatase 1 regulatory subunit 12B isoform X3

  2. XM_054336735.1XP_054192710.1  protein phosphatase 1 regulatory subunit 12B isoform X1

  3. XM_054336736.1XP_054192711.1  protein phosphatase 1 regulatory subunit 12B isoform X2

  4. XM_054336738.1XP_054192713.1  protein phosphatase 1 regulatory subunit 12B isoform X4

  5. XM_054336740.1XP_054192715.1  protein phosphatase 1 regulatory subunit 12B isoform X6

  6. XM_054336739.1XP_054192714.1  protein phosphatase 1 regulatory subunit 12B isoform X5

  7. XM_054336741.1XP_054192716.1  protein phosphatase 1 regulatory subunit 12B isoform X7

  8. XM_054336742.1XP_054192717.1  protein phosphatase 1 regulatory subunit 12B isoform X8

    UniProtKB/TrEMBL
    E1CKY7

RNA

  1. XR_008486051.1 RNA Sequence

  2. XR_008486053.1 RNA Sequence

  3. XR_008486054.1 RNA Sequence

  4. XR_008486056.1 RNA Sequence

  5. XR_008486055.1 RNA Sequence

  6. XR_008486057.1 RNA Sequence

  7. XR_008486052.1 RNA Sequence

  8. XR_008486058.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_032105.2: Suppressed sequence

    Description
    NM_032105.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.