1. Gene
  2. TMEM43 - transmembrane protein 43 Gene

TMEM43 - transmembrane protein 43 Gene

Homo sapiens

Also known as LUMA; ARVC5; ARVD5; AUNA3; EDMD7; EDMD7; AUNA2

Gene ID: 79188 | Gene type: protein coding

About TMEM43

Cytogenetic location: 3p25.1 Genomic coordinates (GRCh38): 3:14,125,052-14,143,680 (from NCBI)

This gene has 2 transcripts (splice variants), 193 orthologues and is associated with 8 phenotypes. Ubiquitous expression in skin (RPKM 47.7), ovary (RPKM 42.5) and 25 other tissues.

Summary

This gene belongs to the TMEM43 family. Defects in this gene are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right ventricular dysplasia is an inherited disorder, often involving both ventricles, and is characterized by ventricular tachycardia, heart failure, sudden cardiac death, and fibrofatty replacement of cardiomyocytes. This gene contains a response element for PPAR gamma (an adipogenic transcription factor), which may explain the fibrofatty replacement of the myocardium, a characteristic pathological finding in ARVC. [provided by RefSeq, Oct 2008]

TMEM43 Products(8)

mRNA Protein Name
NM_001407274.1 NP_001394203.1 transmembrane protein 43 isoform 2
NM_001407275.1 NP_001394204.1 transmembrane protein 43 isoform 3
NM_001407276.1 NP_001394205.1 transmembrane protein 43 isoform 4
NM_001407277.1 NP_001394206.1 transmembrane protein 43 isoform 5
NM_001407278.1 NP_001394207.1 transmembrane protein 43 isoform 6
NM_001407279.1 NP_001394208.1 transmembrane protein 43 isoform 7
NM_001407280.1 NP_001394209.1 transmembrane protein 43 isoform 8
NM_024334.3 NP_077310.1 transmembrane protein 43 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
21391237 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21391237 GOA
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within nuclear membrane organization IDA
IDA: Inferred from direct assay
18230648 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TMEM43 Protein Structure

TMEM43

TMEM43: Transmembrane protein 43 (121 - 373)

  • 0
  • 100
  • 200
  • 300
  • 400 a.a.
Protein Preferred Names Protein Names

transmembrane protein 43

TMEM43 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
TMEM43 Q9BTV4 CISD2 Homo sapiens Q8N5K1
Y2H Array
32296183
Intra
TMEM43 Q9BTV4 CISD2 Homo sapiens Q8N5K1
Y2H Prey Pooling
32296183
Intra
TMEM43 Q9BTV4 ARL13B Homo sapiens Q3SXY8
Y2H Prey Pooling
32296183
Intra
TMEM43 Q9BTV4 ARL13B Homo sapiens Q3SXY8
Y2H Array
32296183
Intra
TMEM43 Q9BTV4 SIAH1 Homo sapiens Q8IUQ4-2
Validated Y2H
25910212
Intra
TMEM43 Q9BTV4 SIAH1 Homo sapiens Q8IUQ4-2
Y2H Array
25910212
Intra
TMEM43 Q9BTV4 SIAH1 Homo sapiens Q8IUQ4-2
Y2H Bait-Prey Pool
25910212
Intra
TMEM43 Q9BTV4 PCYT1B Homo sapiens Q9Y5K3-3
Validated Y2H
32296183
Intra
TMEM43 Q9BTV4 PCYT1B Homo sapiens Q9Y5K3-3
Y2H Prey Pooling
32296183
Intra
TMEM43 Q9BTV4 PCYT1B Homo sapiens Q9Y5K3-3
Y2H Array
32296183
Intra
TMEM43 Q9BTV4 FAM209A Homo sapiens Q5JX71
Y2H Prey Pooling
32296183
Intra
TMEM43 Q9BTV4 FAM209A Homo sapiens Q5JX71
Y2H Array
32296183
Intra
TMEM43 Q9BTV4 USP25 Homo sapiens Q9UHP3
Y2H Prey Pooling
32296183
Intra
TMEM43 Q9BTV4 USP25 Homo sapiens Q9UHP3
Validated Y2H
32296183
Intra
TMEM43 Q9BTV4 USP25 Homo sapiens Q9UHP3
Y2H Array
32296183
Intra
TMEM43 Q9BTV4 GRAMD2B Homo sapiens Q96HH9
Y2H Prey Pooling
26871637
Intra
TMEM43 Q9BTV4 GRAMD2B Homo sapiens Q96HH9
Y2H Prey Pooling
32296183
Intra
TMEM43 Q9BTV4 GRAMD2B Homo sapiens Q96HH9
Validated Y2H
26871637
Intra
TMEM43 Q9BTV4 GRAMD2B Homo sapiens Q96HH9
Y2H Array
26871637
Intra
TMEM43 Q9BTV4 GRAMD2B Homo sapiens Q96HH9
Y2H Array
32296183
Intra
TMEM43 Q9BTV4 APOA5 Homo sapiens Q6Q788
Y2H Array
32296183
Intra
TMEM43 Q9BTV4 APOA5 Homo sapiens Q6Q788
Y2H Prey Pooling
32296183
Intra
TMEM43 Q9BTV4 EMD Homo sapiens P50402
Anti Bait CoIP
21391237
Intra
TMEM43 Q9BTV4 EMD Homo sapiens P50402
Anti Tag CoIP
21391237
Intra
TMEM43 Q9BTV4 EMD Homo sapiens P50402
IF
21391237
Intra
TMEM43 Q9BTV4 SYNDIG1 Homo sapiens Q9H7V2
Y2H Prey Pooling
32296183
Intra
TMEM43 Q9BTV4 SYNDIG1 Homo sapiens Q9H7V2
Validated Y2H
32296183
Intra
TMEM43 Q9BTV4 SYNDIG1 Homo sapiens Q9H7V2
Y2H Array
32296183
Intra
TMEM43 Q9BTV4 SIAH1 Homo sapiens Q8IUQ4
Validated Y2H
25416956
Intra
TMEM43 Q9BTV4 SIAH1 Homo sapiens Q8IUQ4
Y2H Array
25416956
Intra
TMEM43 Q9BTV4 SIAH1 Homo sapiens Q8IUQ4
Y2H Prey Pooling
25416956
Intra
TMEM43 Q9BTV4 ZCCHC12 Homo sapiens Q6PEW1
Y2H Prey Pooling
32296183
Intra
TMEM43 Q9BTV4 ZCCHC12 Homo sapiens Q6PEW1
Y2H Array
32296183
Intra
TMEM43 Q9BTV4 FGA Homo sapiens P02671-2
Y2H Array
32296183
Intra
TMEM43 Q9BTV4 FGA Homo sapiens P02671-2
Y2H Prey Pooling
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

Arrhythmogenic Right Ventricular Dysplasia 5

ARVD5

Arrhythmogenic Right Ventricular Cardiomyopathy 5

Arvc5

Familial Arrhythmogenic Right Ventricular Dysplasia 5

Dysplasia, Ventricular, Right, Arrhythmogenic, Type 5

Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant

EDMD7

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 7

Emery-Dreifuss Muscular Dystrophy 7, Ad

Emd7

Dystrophy, Muscular, Emery-Dreifuss, Type 7, Autosomal Dominant

Auditory Neuropathy, Autosomal Dominant 3

AUNA3

Autosomal Dominant Auditory Neuropathy 3

Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic Right Ventricular Dysplasia

Arvc

Arvd

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Arvc Cardiomyopathy

Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia

Arvd/C

Right Ventricular Dysplasia, Arrhythmogenic

Ventricular Dysplasia, Right, Arrhythmogenic

Cardiomyopathy, Ventricular, Right, Arrhythmogenic

Dysplasia, Arrhythmogenic Right Ventricular

Familial Isolated Arrhythmogenic Right Ventricular Dysplasia

Familial Isolated Arvc

Familial Isolated Arvd

Familial Isolated Arrhythmogenic Right Ventricular Cardiomyopathy

Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy

Familial Isolated Arrhythmogenic Ventricular Dysplasia

Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

EDMD2

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy

Emd2

Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant

Scapuloilioperoneal Atrophy With Cardiopathy

Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant

Hauptmann-Thannhauser Muscular Dystrophy

Cardiomyopathy, Dilated, With Quadriceps Myopathy

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2

Muscular Dystrophy, Limb-Girdle, Type 1b

Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly

Lgmd1b, Formerly

Muscular Dystrophy, Proximal, Type 1b, Formerly

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b

Lgmd1b

Limb-Girdle Muscular Dystrophy 1b

Muscular Dystrophy, Proximal, Type 1b

Muscular Dystrophy With Early Contractures And Cardiomyopathy Autosomal Dominant

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form

Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Biventricular Form

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form

Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Left Dominant Form

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form

Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Classic Form

Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Right Dominant Form

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Classic Form

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

Emery-Dreifuss Muscular Dystrophy

Edmd

Emery-Dreifuss Syndrome

Muscular Dystrophy, Emery-Dreifuss

Humeroperoneal Neuromuscular Disease

Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures

Scapuloperoneal Syndrome, X-Linked

Benign Scapuloperoneal Muscular Dystrophy With Early Contractures

Muscular Dystrophy, Emery-Dreifuss Type

Muscular Dystrophy Emery-Dreifuss

Dystrophy, Muscular, Emery-Dreifuss

Emd - [Emery-Dreifuss Muscular Dystrophy]

Cardiac Tuberculosis

Tuberculosis, Cardiovascular

Cardiovascular Tuberculosis

Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

Arrhythmogenic Right Ventricular Dysplasia 12

ARVD12

Arrhythmogenic Right Ventricular Cardiomyopathy 12

Arvc12

Familial Arrhythmogenic Right Ventricular Dysplasia 12

Dysplasia, Ventricular, Right, Arrhythmogenic, Type 12

Myopathy, X-Linked, With Postural Muscle Atrophy

Emery-Dreifuss Muscular Dystrophy 6, X-Linked

XMPMA

X-Linked Myopathy With Postural Muscle Atrophy

X-Linked Emery-Dreifuss Muscular Dystrophy 6

EDMD6

Emd6

Arrhythmogenic Right Ventricular Dysplasia, Familial, 6

Arrhythmogenic Right Ventricular Dysplasia 6

ARVD6

Arrhythmogenic Right Ventricular Cardiomyopathy 6

Arvc6

Familial Arrhythmogenic Right Ventricular Dysplasia 6

Arrhythmogenic Right Ventricular Dysplasia-6

Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

EDMD3

Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 3

Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

Emery-Dreifuss Muscular Dystrophy Atypical Autosomal Recessive

Dystrophy, Muscular, Emery-Dreifuss, Type 3, Autosomal Recessive

Emery-Dreifuss Muscular Dystrophy 3

Arrhythmogenic Right Ventricular Dysplasia, Familial, 4

Arrhythmogenic Right Ventricular Dysplasia 4

ARVD4

Arrhythmogenic Right Ventricular Cardiomyopathy 4

Arvc4

Familial Arrhythmogenic Right Ventricular Dysplasia 4

Arrhythmogenic Right Ventricular Dysplasia-4

Naxos Disease

Mal De Naxos

NXD

Cardiomyopathy, Arrhythmogenic Right Ventricular, With Skin, Hair, And Nail Abnormalities

Woolly Hair, Palmoplantar Keratoderma, And Cardiac Abnormalities

Palmoplantar Keratoderma With Arrhythmogenic Right Ventricular Cardiomyopathy And Woolly Hair

Keratosis Palmoplantaris With Arrythmogenic Cardiomyopathy

Keratosis Palmoplantaris With Arrhythmogenic Cardiomyopathy

Keratosis Palmoplantaris Arrythmogenic Cardiomyopathy Woolly Hair

Woolly Hair Palmoplantar Keratoderma Cardiac Abnormalities

Kwwh Type I

Keratoderma With Woolly Hair Type I

Palmoplantar Hyperkeratosis With Arrythmogenic Cardiomyopathy

Palmoplantar Keratoderma With Arrythmogenic Cardiomyopathy

Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma

Carvajal Syndrome

Palmoplantar Keratoderma With Left Ventricular Cardiomyopathy And Woolly Hair

DCWHK

Dilated Cardiomyopathy With Woolly Hair And Keratoderma

Cardiomyopathy Dilated With Woolly Hair And Keratoderma

Kwwh Type Ii

Keratoderma With Woolly Hair Type Ii

Woolly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome

Woolly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome

Wooly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome

Wooly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome

Epidermolytic Palmoplantar Keratoderma Woolly Hair And Dilated Cardiomyopathy

Wooly Hair - Palmoplantar Keratoderma - Dilated Cardiomyopathy

Cardiomyopathy, Dilated With Woolly Hair And Keratoderma

Emery-Dreifuss Muscular Dystrophy 1, X-Linked

EDMD1

Emd1

Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures

X-Linked Emery-Dreifuss Muscular Dystrophy 1

Humeroperoneal Neuromuscular Disease

X-Linked Emery-Dreifuss Muscular Dystrophy

Scapuloperoneal Syndrome, X-Linked, Formerly

Humeroperoneal Neuromuscular Disease, Formerly

Scapuloperoneal Syndrome, X-Linked

Muscular Dystrophy Tardive Dreifuss-Emery Type With Contractures

Scapuloperoneal Syndrome X-Linked

X-Edmd

Dystrophy, Muscular, Emery-Dreifuss, Type 1, X-Linked

Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

Arrhythmogenic Right Ventricular Dysplasia 10

ARVD10

Arrhythmogenic Right Ventricular Cardiomyopathy 10

Arvc10

Familial Arrhythmogenic Right Ventricular Dysplasia 10

Dysplasia, Ventricular, Right, Arrhythmogenic, Type 10

Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

EDMD4

Emery-Dreifuss Muscular Dystrophy 4 With Variable Features

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4

Emd4

Dystrophy, Muscular, Emery-Dreifuss, Type 4, Autosomal Dominant

Emery-Dreifuss Muscular Dystrophy 4

Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Arrhythmogenic Right Ventricular Dysplasia 8

ARVD8

Arrhythmogenic Right Ventricular Cardiomyopathy 8

Arvc8

Familial Arrhythmogenic Right Ventricular Dysplasia 8

Dysplasia, Ventricular, Right, Arrhythmogenic, Type 8

Cardiac Sarcoidosis
Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy

Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

EDMD5

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 5

Emd5

Dystrophy, Muscular, Emery-Dreifuss, Type 5, Autosomal Dominant

Arrhythmogenic Right Ventricular Dysplasia, Familial, 1

Arrhythmogenic Right Ventricular Dysplasia 1

Uhl Anomaly

Arrhythmogenic Right Ventricular Cardiomyopathy 1

Arvc1

ARVD1

Cardiomyopathy Right Ventricular Dilated

Dysplasia, Arrhythmogenic Right Ventricular, Type 1

Arrhythmogenic Right Ventricular Dysplasia, Familial, 3

Arrhythmogenic Right Ventricular Dysplasia 3

ARVD3

Arrhythmogenic Right Ventricular Cardiomyopathy 3

Arvc3

Familial Arrhythmogenic Right Ventricular Dysplasia 3

Arrhythmogenic Right Ventricular Dysplasia-3

Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

Arrhythmogenic Right Ventricular Dysplasia 2

ARVD2

Arrhythmogenic Right Ventricular Cardiomyopathy 2

Arvc2

Familial Arrhythmogenic Right Ventricular Dysplasia 2

Dysplasia, Arrhythmogenic Right Ventricular, Type 2

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome

Sudden Unexplained Nocturnal Death Syndrome

Bangungut

Brugada Type Idiopathic Ventricular Fibrillation

Pokkuri Death Syndrome

Sunds

Idiopathic Ventricular Fibrillation, Brugada Type

Sudden Unexplained Death

Dream Disease

Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

Sudden Unexplained Death Syndrome

Suds

Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Palmoplantar Keratoderma, Nonepidermolytic

Nonepidermolytic Palmoplantar Keratoderma

NEPPK

Tylosis

Unna-Thost Syndrome

Keratoderma, Palmoplantar, Diffuse

Ppkne

Keratoderma, Nonepidermolytic Palmoplantar

Diffuse Nonepidermolytic Palmomplantar Keratoderma

Thost-Unna Syndrome

Non-Epidermolytic Palmoplantar Keratoderma

Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type

Diffuse Palmoplantar Keratoderma, Bothnian Type

Krt1-Related Diffuse Nonepidermolytic Keratoderma

Krt1-Related Diffuse Neppk

Keratoderma, Palmoplantar, Non-Epidermolytic

Nonepidermolytic Unna-Thost Disease

Non-Epidermolytic Unna-Thost Disease

Keratoderma, Palmoplantar, Nonepidermolytic

Hyperkeratosis

Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Arrhythmogenic Right Ventricular Dysplasia 9

ARVD9

Arrhythmogenic Right Ventricular Cardiomyopathy 9

Arvc9

Familial Arrhythmogenic Right Ventricular Dysplasia 9

Dysplasia, Arrhythmogenic Right Ventricular, Type 9

Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

Arrhythmogenic Right Ventricular Dysplasia 11

ARVD11

Arrhythmogenic Right Ventricular Cardiomyopathy 11

Arvc11

Arrhythmogenic Right Ventricular Dysplasia 11 With Mild Palmoplantar Keratoderma And Woolly Hair

Arrhythmogenic Right Ventricular Dysplasia, Familial, 11, With Mild Palmoplantar Keratoderma And Woolly Hair

Familial Arrhythmogenic Right Ventricular Dysplasia 11

Arrhythmogenic Right Ventricular Dysplasia 11, Familial, And Mild Palmoplantar Keratoderma And Woolly Hair

ARVD11PK

Arvd And Mild Palmoplantar Keratoderma With Or Without Woolly Hair

Dysplasia, Ventricular, Right, Arrhythmogenic, Type 11

Left Bundle Branch Hemiblock

Left Bundle Branch Block

Left Bundle-Branch Block

Myopathy

Muscular Diseases

Myopathies

Familial Woolly Hair Syndrome

Wooly Hair

Familial Wooly Hair Syndrome

Hereditary Woolly Hair Syndrome

Hereditary Wooly Hair Syndrome

Woolly Hair

Syndrome With Woolly Hair

Wooly Hair Syndrome

Ehlers-Danlos Syndrome, Hypermobility Type

Ehlers-Danlos Syndrome, Type 3

Ehlers-Danlos Syndrome, Type Iii

EDSHMB

Eds Iii

Benign Hypermobility Syndrome

Ehlers-Danlos Syndrome Hypermobility Type

Eds3

Type Iii Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome Type 3

Es-D3

Muscular Dystrophy, Congenital, Lmna-Related

Congenital Muscular Dystrophy

Congenital Muscular Dystrophy Due To Lmna Mutation

MDCL

L-Cmd

Lmna-Related Congenital Muscular Dystrophy

Muscular Dystrophy, Congenital

Congenital Muscular Dystrophy Lmna-Related

Lmna-Related Cmd

Cmd

Mdc

Muscular Dystrophy Congenital Lmna-Related

Dystrophy, Muscular, Congenital, Lmna-Related

Dystrophy, Muscular, Congenital

Hereditary Muscular Dystrophy

Congenital Hereditary Muscular Dystrophy

Congenital Progressive Muscular Dystrophy

Hereditary Progressive Muscular Dystrophy

Palmoplantar Keratosis

Palmoplantar Keratoderma

Keratosis Palmaris Et Plantaris

Palmo-Plantar Keratodermas

Keratoderma, Palmoplantar

Keratoderma Palmoplantar

Keratoderma, Palmoplantar, Diffuse

Hyperkeratosis Of Palms And Soles

Palmoplantar Hyperkeratosis

Charcot-Marie-Tooth Disease, Axonal, Type 2b1

Charcot-Marie-Tooth Disease Type 2b1

Charcot-Marie-Tooth Disease, Type 2b1

CMT2B1

Autosomal Recessive Axonal Cmt4c1

Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b1

Charcot-Marie-Tooth Disease Neuronal Type 2b1

Charcot-Marie-Tooth Neuropathy Type 2b1

Charcot-Marie-Tooth Disease, Neuronal, Type 2b1

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b1

Charcot-Marie-Tooth Neuropathy, Type 2b1

Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b1

Ar-Cmt2b1

Charcot-Marie-Tooth Disease 2b1

Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B1

Charcot-Marie-Tooth Disease Axonal Type 2b1

Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

Catecholaminergic Polymorphic Ventricular Tachycardia

Cpvt

Catecholamine-Induced Polymorphic Ventricular Tachycardia

Familial Polymorphic Ventricular Tachycardia

Malignant Paroxysmal Ventricular Tachycardia

Multifocal Ventricular Premature Beats

Stress-Induced Polymorphic Ventricular Tachycardia

Bidirectional Tachycardia Induced By Catecholamine

Double Tachycardia Induced By Catecholamines

Polymorphic Catecholergic Ventricular Tachycardia

Syncopal Paroxysmal Tachycardia

Bidirectional Tachycardia Induced By Catecholamines

Fpvt

Bidirectional Ventricular Tachycardia Induced By Catecholamine

Polymorphic Ventricular Tachycardia Induced By Catecholamines

Ventricular Tachycardia, Catecholaminergic Polymorphic

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Familial Ventricular Tachycardia

Multifocal Pvcs

Multifocal Premature Ventricular Beats

Intrinsic Cardiomyopathy
Restrictive Cardiomyopathy

Familial Restrictive Cardiomyopathy

Cardiomyopathy, Restrictive

Cardiomyopathy, Constrictive

Primary Restrictive Cardiomyopathy

Rcm

Cardiomyopathy Restrictive

Cardiomyopathy, Dilated, 1a

Dilated Cardiomyopathy 1a

Cdcd1

CMD1A

Cardiomyopathy, Familial Idiopathic

Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation

Cardiomyopathy, Dilated, With Conduction Defect 1

Cardiomyopathy, Idiopathic Dilated

Cardiomyopathy, Congestive

Dilated Cardiomyopathy With Conduction Defect 1

Cardiomyopathy Dilated With Conduction Defect Type 1

Cardiomyopathy, Dilated 1a

Cardiomyopathy Dilated With Conduction Defect 1

Cardiomyopathy, Dilated, Type 1a

Left Ventricular Noncompaction

Noncompaction Cardiomyopathy

Left Ventricular Hypertrabeculation

Lvnc

Spongy Myocardium

Isolated Noncompaction Of The Ventricular Myocardium

Left Ventricular Myocardial Noncompaction Cardiomyopathy

Fetal Myocardium

Honeycomb Myocardium

Hypertrabeculation Syndrome

Left Ventricular Non-Compaction

Lvht

Non-Compaction Of The Left Ventricular Myocardium

Ventricular Noncompaction, Left

Non-Compaction Cardiomyopathy

Cardiomyopathy, Dilated, 1h

Dilated Cardiomyopathy 1h

Dilated Cardiomyopathy With Conduction Defect

CMD1H

Cardiomyopathy, Dilated, With Conduction Defect

Myofibrillar Myopathy

Desmin Related Myopathy

Myotilinopathy

Myopathy, Myofibrillar

Alpha Beta Crystallinopathy

Desmin Storage Myopathy

Desminopathy

Filaminopathy

Protein Surplus Myopathy

Zaspopathy

Myofibrillar Myopathies

Myopathy, Myofibrillar, Desmin-Related

Myopathy, Desmin Storage

Mfm - [Myofibrillar Myopathy]

Long Qt Syndrome

Romano-Ward Syndrome

Long Q-T Syndrome

Lqt

Qt Syndrome, Long

Congenital Long Qt Syndrome

Familial Long Qt Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus TMEM43 VGNC VGNC:80741
Bos taurus TMEM43 VGNC VGNC:99679
Macaca mulatta TMEM43 VGNC VGNC:82711
Mus musculus TMEM43 MGD MGI:1921372
Canis familiaris TMEM43 VGNC VGNC:99673
Rattus norvegicus TMEM43 RGD RGD:1549711