MLIP

protein-coding

muscular LMNA interacting protein

Gene summary

Predicted to enable lamin binding activity and transcription corepressor activity. Predicted to be involved in negative regulation of cardiac muscle hypertrophy in response to stress; negative regulation of transcription by RNA polymerase II; and positive regulation of transcription by RNA polymerase II. Predicted to be located in PML body; nuclear envelope; and sarcolemma. Implicated in myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C6orf142

MANE transcript

NM_001281747.2

Inheritance

ClinVar variants

P:18U:57B:18

Top phenotype

Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1

gnomAD constraint

pLI —, LoF o/e 0.99

Max pathogenic AF

—

Genomic locus

chr6:53,929,982-54,266,280

External References & Databases

Ensembl (ENSG00000146147)

Transcript & Mutation Effects

hg38 • Region Span ~336.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1STRONG

Inheritance Pattern: AR

Disease ID:MONDO:0859322

Submitter: Ambry Genetics

myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1STRONG

Inheritance Pattern: AR

Disease ID:MONDO:0859322

Submitter: PanelApp Australia

myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1STRONG

Inheritance Pattern: AR

Disease ID:MONDO:0859322

Submitter: Labcorp Genetics (formerly Invitae)

Clinical Genomic Database (CGD)

Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1AR

Manifestation: Cardiovascular; Musculoskeletal

Intervention: Cardiovascular; Musculoskeletal

Rationale: The condition can involve cardiomyopathy and/or arrhythmia, and awareness may allow prompt diagnosis and mangement; Individuals may be at risk of rhabdomyolysis, and awareness may allow avoidance of precipitating factors, and prompt treatment of episodes

Refs: 34581780; 34935254; 35672413; 35915960

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MLIP variants in ClinVar

7 Conditions Cataloged

Inborn genetic diseasesTotal: 50

not providedTotal: 19

MLIP-related disorderTotal: 16

Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysisTotal: 12

not specifiedTotal: 5

Intellectual developmental disorder, autosomal dominant 64Total: 1

Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1Total: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001281747.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				7 clinvar	1 clinvar	8
missense			56 clinvar	8 clinvar	2 clinvar	66
nonsense	5 clinvar					5
start loss						0
frameshift	5 clinvar	6 clinvar				11
splice donor/acceptor (+/-2bp)		2 clinvar	1 clinvar			3
Total	10	8	57	15	3	93

Highest pathogenic variant AF is 0.0002092428

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 43 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001281747.2	RefSeq	NP_001268676.1	14	MANE Select
ENST00000502396.6	Ensembl	ENSP00000426290.1	14	MANE Select
NM_001281746.2	RefSeq	NP_001268675.1	12	Standard
NM_138569.3	RefSeq	NP_612636.2	13	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

negative regulation of transcription by RNA polymerase II
negative regulation of cardiac muscle hypertrophy
positive regulation of transcription by RNA polymerase II
negative regulation of cardiac muscle hypertrophy in response to stress

Cellular Component

nucleus
nuclear envelope
PML body
nuclear lumen
sarcolemma

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000274897
Coding exons: 13
Length: 336299
Individuals with no LoFs: 125703
Homozygous LoFs: 0
Heterozygous LoFs: 44
Defined: 125747
p: 0.000175

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.710	266	235	1.13	0.0000114	2964
Missense (PolyPhen)		84	88.341	0.95086		1145
Synonymous	-0.613	97	89.6	1.08	0.00000462	895
Loss of Function	0.0556	24	24.3	0.988	0.00000108	320

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00032	0.00031	rare
Latino/Admixed American	0.00029	0.00026	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00016	0.00016	rare
South Asian	0.00033	0.00033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Required for precocious cardiac adaptation to stress through integrated regulation of the AKT/mTOR pathways and FOXO1. Regulates cardiac homeostasis and plays an important role in protection against cardiac hypertrophy. Acts as a transcriptional cofactor, represses transactivator activity of ISL1 and MYOCD. {ECO:0000250|UniProtKB:A0A096MK47, ECO:0000250|UniProtKB:Q5FW52}.;

Intolerance Scores

RVIS EVS: 0.24
RVIS percentile EVS: 69.51

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium