MAMSTR

Summary

MAMSTR (MEF2 activating motif and SAP domain containing transcriptional regulator, HGNC:26689) is a protein-coding gene on chromosome 19q13.33, encoding MEF2-activating motif and SAP domain-containing transcriptional regulator (Q6ZN01). Transcriptional coactivator.

Predicted to enable transcription coregulator activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive regulation of myotube differentiation and positive regulation of transcription by RNA polymerase II. Predicted to be active in nucleus.

Source: NCBI Gene 284358 — RefSeq curated summary.

At a glance

• GWAS associations: 44
• Clinical variants (ClinVar): 58 total
• MANE Select transcript: NM_001130915

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26689
Approved symbol	MAMSTR
Name	MEF2 activating motif and SAP domain containing transcriptional regulator
Location	19q13.33
Locus type	gene with protein product
Status	Approved
Aliases	MASTR, FLJ36070
Ensembl gene	ENSG00000176909
Ensembl biotype	protein_coding
OMIM	610349
Entrez	284358

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 5 protein_coding, 1 retained_intron

ENST00000318083, ENST00000356751, ENST00000594582, ENST00000595591, ENST00000599703, ENST00000850646

RefSeq mRNA: 3 — MANE Select: NM_001130915 NM_001130915, NM_001297753, NM_182574

CCDS: CCDS12730, CCDS46137, CCDS74415

Canonical transcript exons

ENST00000318083 — 10 exons

Exon	Start	End
ENSE00001634258	48719679	48719725
ENSE00003082990	48714806	48714908
ENSE00003214633	48712725	48713550
ENSE00003477471	48715625	48715767
ENSE00003491223	48715262	48715446
ENSE00003610324	48716705	48716743
ENSE00003623851	48718974	48719052
ENSE00004282446	48713860	48714045
ENSE00004282447	48714366	48714560
ENSE00004282448	48713716	48713770

Expression profiles

Bgee: expression breadth ubiquitous, 176 present calls, max score 93.63.

FANTOM5 (CAGE): breadth broad, TPM avg 2.2294 / max 165.8277, expressed in 654 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
181913	1.3434	543
181915	0.4736	115
181914	0.2113	90
181912	0.1319	72
181916	0.0692	21

Top tissues by expression

223 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
hindlimb stylopod muscle	UBERON:0004252	93.63	gold quality
right adrenal gland cortex	UBERON:0035827	91.57	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	91.41	gold quality
right adrenal gland	UBERON:0001233	91.27	gold quality
gastrocnemius	UBERON:0001388	89.89	gold quality
muscle of leg	UBERON:0001383	89.52	gold quality
left adrenal gland	UBERON:0001234	89.06	gold quality
left adrenal gland cortex	UBERON:0035825	88.92	gold quality
adrenal cortex	UBERON:0001235	88.15	gold quality
adrenal gland	UBERON:0002369	86.35	gold quality
skeletal muscle tissue	UBERON:0001134	81.83	gold quality
muscle tissue	UBERON:0002385	80.81	gold quality
quadriceps femoris	UBERON:0001377	80.70	gold quality
sperm	CL:0000019	80.53	gold quality
vastus lateralis	UBERON:0001379	80.50	gold quality
adrenal tissue	UBERON:0018303	79.56	gold quality
biceps brachii	UBERON:0001507	78.85	gold quality
body of uterus	UBERON:0009853	78.61	gold quality
right ovary	UBERON:0002118	78.06	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	77.55	gold quality
sural nerve	UBERON:0015488	77.42	gold quality
ventricular zone	UBERON:0003053	77.40	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	77.06	gold quality
right hemisphere of cerebellum	UBERON:0014890	77.06	gold quality
left uterine tube	UBERON:0001303	76.87	gold quality
cerebellar cortex	UBERON:0002129	76.78	gold quality
cerebellar hemisphere	UBERON:0002245	76.78	gold quality
cerebellum	UBERON:0002037	76.43	gold quality
left ovary	UBERON:0002119	75.51	gold quality
endothelial cell	CL:0000115	75.06	silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.99

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

22 targeting MAMSTR, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-940	99.37	66.14	2064
HSA-MIR-6808-5P	99.31	66.23	2150
HSA-MIR-6893-5P	99.31	66.25	2119
HSA-MIR-593-3P	99.22	67.28	1327
HSA-MIR-4695-5P	99.06	64.87	1151
HSA-MIR-922	99.02	67.23	1838
HSA-MIR-3619-5P	99.00	68.87	2308
HSA-MIR-214-3P	98.71	68.12	2128
HSA-MIR-761	98.71	68.07	2051
HSA-MIR-6806-5P	96.37	68.74	587

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	mtdhb	ENSDARG00000004939
danio_rerio	mtdha	ENSDARG00000014159
mus_musculus	Mamstr	ENSMUSG00000042918
rattus_norvegicus	Mamstr	ENSRNOG00000024580

Paralogs (1): MTDH (ENSG00000147649)

Protein

Protein identifiers

MEF2-activating motif and SAP domain-containing transcriptional regulator — Q6ZN01 (reviewed: Q6ZN01)

Alternative names: MEF2-activating SAP transcriptional regulatory protein

All UniProt accessions (3): M0QXF1, Q6ZN01, M0QY28

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional coactivator. Stimulates the transcriptional activity of MEF2C. Stimulates MYOD1 activity in part via MEF2, resulting in an enhancement of skeletal muscle differentiation.

Subunit / interactions. Interacts with MEF2C.

Subcellular location. Nucleus.

Tissue specificity. Expressed in skeletal muscle, brain, placenta and spleen.

Isoforms (3)

UniProt ID	Names	Canonical?
Q6ZN01-1	1	yes
Q6ZN01-2	2
Q6ZN01-3	3

RefSeq proteins (3): NP_001124387, NP_001284682, NP_872380 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003034	SAP_dom	Domain
IPR036361	SAP_dom_sf	Homologous_superfamily
IPR052305	TransReg_TumorExp	Family

Pfam: PF02037

UniProt features (19 total): compositionally biased region 10, region of interest 3, splice variant 2, chain 1, domain 1, sequence conflict 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZN01-F1	58.33	0.11

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 54 (showing top): GOBP_POSITIVE_REGULATION_OF_MYOTUBE_DIFFERENTIATION, RNGTGGGC_UNKNOWN, MYOGENIN_Q6, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOBP_POSITIVE_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, MYOD_Q6, GOBP_REGULATION_OF_MYOTUBE_DIFFERENTIATION, GOBP_MYOTUBE_DIFFERENTIATION, E12_Q6

GO Biological Process (3): regulation of transcription by RNA polymerase II (GO:0006357), positive regulation of myotube differentiation (GO:0010831), positive regulation of transcription by RNA polymerase II (GO:0045944)

GO Molecular Function (1): transcription coregulator activity (GO:0003712)

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transcription by RNA polymerase II	2
regulation of DNA-templated transcription	1
regulation of myotube differentiation	1
myotube differentiation	1
positive regulation of striated muscle cell differentiation	1
regulation of transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
transcription regulator activity	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1943 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MAMSTR	MEF2C	Q06413	682
MAMSTR	SRF	P11831	588
MAMSTR	MYF5	P13349	531
MAMSTR	MRTFB	Q9ULH7	465
MAMSTR	CPED1	A4D0V7	442
MAMSTR	MYOCD	Q8IZQ8	415
MAMSTR	RBM47	A0AV96	407
MAMSTR	BRCA2	P51587	397
MAMSTR	RASIP1	Q5U651	391
MAMSTR	BRCA1	P38398	370
MAMSTR	MRTFA	Q969V6	366
MAMSTR	KCNE2	Q9Y6J6	365
MAMSTR	PMS2	P54278	290
MAMSTR	STPG2	Q8N412	290
MAMSTR	MYOD1	P15172	289

IntAct

2 interactions, top by confidence:

A	B	Type	Score
MAMSTR		psi-mi:“MI:0915”(physical association)	0.000

ESM2 similar proteins: A0A1B0GUS0, A0A5F9ZHS7, A7E346, A7MB34, A8MZG2, B2RU40, D4A9R4, O08574, O75593, P0C1Z6, P0CG20, Q0VG99, Q0ZCJ7, Q17QH7, Q29RM2, Q2KIS6, Q2M2S6, Q2M3G4, Q2NL68, Q32LE6, Q3U1J1, Q5JXC2, Q5R815, Q5SW24, Q61660, Q63247, Q6NZ36, Q6PBC9, Q6ZN01, Q6ZRI6, Q7TN08, Q7Z591, Q80VF6, Q86WR7, Q8BG26, Q8BP99, Q8BXQ8, Q8IYS4, Q8N9Y4, Q8NAV2

Diamond homologs: A7E346, Q0ZCJ7, Q6ZN01, Q7YR76, Q8IZQ8, Q8R5I7, Q8VIM5, Q9ULH7, P59759, Q8AYC1, Q8K4J6, Q969V6, Q8AYC2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

58 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	48
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1281 predictions. Top by Δscore:

Variant	Effect	Δscore
19:48713766:AGCAA:A	acceptor_gain	1.0000
19:48713767:GCAA:G	acceptor_gain	1.0000
19:48713768:CAA:C	acceptor_gain	1.0000
19:48713768:CAAC:C	acceptor_gain	1.0000
19:48713769:AA:A	acceptor_gain	1.0000
19:48713769:AAC:A	acceptor_loss	1.0000
19:48713770:AC:A	acceptor_loss	1.0000
19:48713771:C:A	acceptor_loss	1.0000
19:48713771:C:CC	acceptor_gain	1.0000
19:48713772:T:A	acceptor_loss	1.0000
19:48713857:TA:T	donor_loss	1.0000
19:48713858:A:AC	donor_gain	1.0000
19:48713859:C:CC	donor_gain	1.0000
19:48713859:C:CT	donor_loss	1.0000
19:48713859:CCTG:C	donor_gain	1.0000
19:48713879:T:TA	donor_gain	1.0000
19:48714046:CT:C	acceptor_loss	1.0000
19:48714368:AGC:A	donor_gain	1.0000
19:48715444:CTC:C	acceptor_gain	1.0000
19:48716701:TTAC:T	donor_loss	1.0000
19:48716702:TACTC:T	donor_loss	1.0000
19:48716703:A:AC	donor_gain	1.0000
19:48716704:C:CG	donor_gain	1.0000
19:48716704:CT:C	donor_gain	1.0000
19:48716704:CTCTG:C	donor_gain	1.0000
19:48713551:C:CC	acceptor_gain	0.9900
19:48713712:CTACC:C	donor_loss	0.9900
19:48713714:A:AC	donor_gain	0.9900
19:48713714:ACC:A	donor_loss	0.9900
19:48713715:C:CC	donor_gain	0.9900

AlphaMissense

2613 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:48714511:C:T	G193E	0.999
19:48714538:A:G	L184P	0.999
19:48714550:A:G	L180P	0.999
19:48714550:A:T	L180H	0.999
19:48718982:A:G	F17S	0.999
19:48714496:A:T	L198H	0.998
19:48714504:C:A	K195N	0.998
19:48714504:C:G	K195N	0.998
19:48714512:C:A	G193W	0.998
19:48714810:A:G	L175P	0.998
19:48718981:G:C	F17L	0.998
19:48718981:G:T	F17L	0.998
19:48718983:A:G	F17L	0.998
19:48714505:T:A	K195M	0.997
19:48714506:T:C	K195E	0.997
19:48714512:C:G	G193R	0.997
19:48714512:C:T	G193R	0.997
19:48714536:G:T	R185S	0.997
19:48718982:A:C	F17C	0.997
19:48713877:C:G	A298P	0.996
19:48714488:G:T	R201S	0.996
19:48714496:A:G	L198P	0.996
19:48714506:T:G	K195Q	0.996
19:48714511:C:A	G193V	0.996
19:48714523:A:G	L189P	0.996
19:48714548:G:C	R181G	0.996
19:48716740:A:G	L21P	0.996
19:48713885:A:G	L295P	0.995
19:48714517:A:T	V191E	0.995
19:48714547:C:G	R181P	0.995

dbSNP variants (sampled 300 via entrez): RS1000039168 (19:48714038 G>A), RS1000039996 (19:48706675 A>G,T), RS1000350657 (19:48718911 C>G,T), RS1000402927 (19:48718649 A>T), RS1000483030 (19:48718500 G>A), RS1000687469 (19:48717729 G>C), RS1000711476 (19:48710746 G>A), RS1000755706 (19:48711107 G>A), RS1001431140 (19:48706377 C>A), RS1001939956 (19:48709643 C>T), RS1002001218 (19:48710960 T>G), RS1002076372 (19:48716578 T>C,G), RS1002175581 (19:48721673 C>T), RS1002222785 (19:48715585 T>C,G), RS1002482912 (19:48715867 C>T)

Disease associations

OMIM: gene MIM:610349 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

44 associations (top):

Study	Trait	p-value
GCST000760_12	Cholesterol, total	2.000000e-10
GCST000847_1	Retinal vascular caliber	2.000000e-25
GCST001198_29	Multiple sclerosis	2.000000e-06
GCST001241_6	Bipolar disorder	3.000000e-06
GCST001875_11	Pubertal anthropometrics	5.000000e-08
GCST002221_49	Cholesterol, total	1.000000e-16
GCST004131_128	Inflammatory bowel disease	5.000000e-06
GCST004132_59	Crohn’s disease	4.000000e-11
GCST006716_15	Alcohol use disorder (total score)	3.000000e-08
GCST008058_117	Estimated glomerular filtration rate	7.000000e-17
GCST008059_29	Estimated glomerular filtration rate	7.000000e-15
GCST008062_98	Blood urea nitrogen levels	3.000000e-07
GCST008074_132	Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	2.000000e-09
GCST008074_156	Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	4.000000e-10
GCST008077_26	LDL cholesterol levels	4.000000e-06
GCST008077_60	LDL cholesterol levels	5.000000e-11
GCST008078_5	LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	2.000000e-20
GCST008078_62	LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	2.000000e-26
GCST008079_11	LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	5.000000e-25
GCST008079_49	LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	3.000000e-30
GCST008083_18	Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	1.000000e-08
GCST008083_97	Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	4.000000e-09
GCST008086_20	LDL cholesterol levels in current drinkers	3.000000e-19
GCST008086_38	LDL cholesterol levels in current drinkers	5.000000e-14
GCST008087_7	Triglyceride levels in current drinkers	7.000000e-06
GCST008295_14	Number of decayed, missing and filled tooth surfaces or use of dentures	5.000000e-14
GCST008306_18	Dentures	3.000000e-14
GCST008747_159	Estimated glomerular filtration rate	1.000000e-09
GCST010132_5	Processed meat consumption	2.000000e-11
GCST010134_4	Non-oily fish consumption	3.000000e-16

EFO canonical traits (12, from GWAS)

EFO ID	Trait name
EFO:0004574	total cholesterol measurement
EFO:0004731	eye measurement
EFO:0009458	alcohol use disorder measurement
EFO:0004530	triglyceride measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004329	alcohol drinking
EFO:0010078	dentures
EFO:0008111	diet measurement
EFO:0600008	mitochondrial heteroplasmy measurement
EFO:0007614	asthma exacerbation measurement
EFO:0006925	lipoprotein A measurement
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

17 total (human), top 17 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects expression	1
butyraldehyde	increases expression	1
epigallocatechin gallate	increases expression	1
2-palmitoylglycerol	increases expression	1
abrine	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Benzo(a)pyrene	affects methylation, decreases methylation, increases methylation	1
Cisplatin	affects cotreatment, increases expression	1
Ozone	affects expression, increases abundance	1
Plant Extracts	affects cotreatment, decreases expression	1
Smoke	decreases expression	1
Valproic Acid	increases methylation	1
Cyclosporine	increases expression	1
Okadaic Acid	increases expression	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.