SMPX - small muscle protein X-linked Gene

Homo sapiens

Also known as Csl; DFN6; MPD7; DFNX4; Chisel

Gene ID: 23676 | Gene type: protein coding

About SMPX

Cytogenetic location: Xp22.12 Genomic coordinates (GRCh38): X:21,705,978-21,758,116 (from NCBI)

This gene has 3 transcripts (splice variants), 187 orthologues and is associated with 3 phenotypes. Restricted expression toward heart (RPKM 174.8).

Summary

This gene encodes a small protein that has no known functional domains. Mutations in this gene are a cause of X-linked deafness-4, and the encoded protein may play a role in the maintenance of inner ear cells subjected to mechanical stress. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2011]

SMPX Products(1)

mRNA	Protein	Name
NM_014332.3	NP_055147.1	small muscular protein

SMPX Protein Structure

Chisel

0
88 a.a.

Protein Preferred Names

Protein Names

small muscular protein

deafness, X-linked 6, sensorineural

Related Diseases

Diseases

Alias

Myopathy, Distal, 7, Adult-Onset, X-Linked

MPD7

Deafness, X-Linked 4

DFNX4	Dfn6
Deafness, Nonsyndromic Sensorineural Progressive 6	X-Linked Deafness 4
Deafness, X-Linked 6, Progressive	Nonsyndromic Sensorineural Progressive Deafness 6
X-Linked Progressive Deafness 6	Deafness, X-Linked, 4
Deafness Nonsyndromic Sensorineural Progressive 6	Deafness X-Linked 6 Progressive
Deafness, X-Linked, Type 4

X-Linked Nonsyndromic Deafness

X-Linked Deafness

Deafness, X-Linked

X-Linked Non-Syndromic Sensorineural Deafness Type Dfn

X-Linked Isolated Neurosensory Deafness Type Dfn	X-Linked Isolated Neurosensory Hearing Loss Type Dfn
X-Linked Isolated Sensorineural Deafness Type Dfn	X-Linked Isolated Sensorineural Hearing Loss Type Dfn
X-Linked Non-Syndromic Neurosensory Deafness Type Dfn	X-Linked Non-Syndromic Neurosensory Hearing Loss Type Dfn
X-Linked Non-Syndromic Sensorineural Hearing Loss Type Dfn

Hereditary Hearing Loss And Deafness

Deafness, X-Linked 6

DFNX6	X-Linked Deafness 6
Deafness, X-Linked, 6	Deafness, X-Linked, Type 6

Deafness, X-Linked 3

DFNX3	Dfn4
X-Linked Deafness 3	Deafness, X-Linked 4, Congenital Sensorineural
Congenital Sensorineural X-Linked Deafness 4

Deafness, X-Linked 5, With Peripheral Neuropathy

Deafness, X-Linked 5	DFNX5
Aunx1	Auditory Neuropathy, X-Linked, 1, With Peripheral Sensory Neuropathy
X-Linked Deafness 5	X-Linked Auditory Neuropathy With Peripheral Sensory Neuropathy Type 1
X-Linked Hsan With Deafness	X-Linked Auditory Neuropathy 1 With Peripheral Sensory Neuropathy
X-Linked Hereditary Sensory And Autonomic Neuropathy With Deafness	X-Linked Hsan With Hearing Loss
X-Linked Hereditary Sensory And Autonomic Neuropathy With Hearing Loss	Deafness, X-Linked, 5, With Peripheral Neuropathy
Deafness, X-Linked, Type 5

Deafness, Autosomal Dominant 5

DFNA5	Autosomal Dominant Nonsyndromic Deafness 5
Autosomal Dominant Deafness 5	Deafness, Autosomal Dominant, 5
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 5	Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 5
Deafness, Autosomal Dominant, Type 5

Deafness, X-Linked 2

Progressive Deafness With Stapes Fixation	DFNX2
Dfn3	Nance Deafness
Perilymphatic Gusher-Deafness Syndrome	Stapedo-Vestibular Ankylosis
Sensorineural Deafness, Profound, With Or Without A Conductive Component, Associated With A Unique Developmental Abnormality Of The Ear	X-Linked Deafness 2
X-Linked Mixed Conductive And Neurosensory Deafness	X-Linked Mixed Conductive And Sensorineural Deafness
Deafness 3 Conductive With Stapes Fixation	Deafness Conductive With Stapes Fixation
Deafness Mixed With Perilymphatic Gusher	Thies-Reis Syndrome
Deafness, Conductive, With Stapes Fixation	Deafness 3, Conductive, With Stapes Fixation
Deafness, Mixed, With Perilymphatic Gusher	Conductive Deafness 3 With Stapes Fixation
Conductive Deafness With Stapes Fixation	Mixed Deafness With Perilymphatic Gusher
X-Linked Deafness Type 2	X-Linked Mixed Conductive And Neurosensory Hearing Loss
X-Linked Mixed Conductive And Sensorineural Hearing Loss	X-Linked Sensorineural Deafness
X-Linked Stapes Gusher Syndrome	Deafness Mixed With Perilymphatic Gusher, X-Linked
Dfn 3 Nonsyndromic Hearing Loss And Deafness	Gusher Syndrome
Thies Reis Syndrome	Progressive Hearing Loss With Stapes Fixation
Deafness, X-Linked, 2	Deafness Mixed With Perilymph Gusher X-Linked
Deafness, X-Linked, Type 2	Progressive Hearing Loss Stapes Fixation

Deafness, X-Linked 7

X-Linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome	DFNX7
X-Linked Deafness 7	Deafness, X-Linked, 7

Deafness, Autosomal Recessive 79

DFNB79	Autosomal Recessive Nonsyndromic Deafness 79
Autosomal Recessive Deafness 79	Deafness, Autosomal Recessive, 79
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 79	Deafness, Autosomal Recessive, Type 79

Deafness, X-Linked 1

DFNX1	Dfn2
Deafness, X-Linked 2, Sensorineural Congenital	X-Linked Deafness 1
X-Linked Sensorineural Congenital Deafness 2	Deafness, X-Linked, 1
Congenital Sensorineural Deafness X-Linked 2	Deafness, X-Linked, Type 1

Mohr-Tranebjaerg Syndrome

Deafness-Dystonia-Optic Neuronopathy Syndrome	Jensen Syndrome
Deafness Dystonia Syndrome	MTS
Dds	Deafness-Dystonia-Optic Atrophy Syndrome
Deafness Syndrome, Progressive, With Blindness, Dystonia, Fractures, And Mental Deficiency	Opticoacoustic Nerve Atrophy With Dementia
Dystonia-Deafness Syndrome	Ddp
Ddon Syndrome	Mohr-Tranebjærg Syndrome
Deafness Dystonia Optic Atrophy Syndrome	Deafness Dystonia Optic Neuronopathy Syndrome
Dystonia Deafness Syndrome	Ddon
Deafness - Dystonia - Optic Neuronopathy Syndrome	Deafness-Dystonia-Optic Neuronopathy Syndrome
Hearing Loss-Dystonia-Optic Neuronopathy Syndrome	Dfn-1
X-Linked Progressive Deafness Type 1

Deafness, Autosomal Dominant 3b

DFNA3B	Autosomal Dominant Nonsyndromic Deafness 3b
Autosomal Dominant Deafness 3b	Deafness, Autosomal Dominant, 3b
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 3b	Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 3b
Deafness, Autosomal Dominant, Type 3b

Deafness, Autosomal Dominant 51

Chromosome 9q21.11 Duplication Syndrome	DFNA51
Autosomal Dominant Nonsyndromic Deafness 51	Autosomal Dominant Deafness 51
Deafness, Autosomal Dominant, Type 51

External Ear Disease

Diseases Of External Ear	Preauricular Cyst
Preauricular Sinus And Fistula	Preauricular Sinus Or Fistula

Osteopetrosis, Autosomal Recessive 3

Osteopetrosis With Renal Tubular Acidosis	Marble Brain Disease
OPTB3	Guibaud-Vainsel Syndrome
Carbonic Anhydrase Ii Deficiency	Osteopetrosis, Autosomal Recessive 3, With Renal Tubular Acidosis
Autosomal Recessive Osteopetrosis 3	Carbonic Anhydrase 2 Deficiency
Autosomal Recessive Osteopetrosis 3 With Renal Tubular Acidosis	Osteopetrosis Autosomal Recessive 3
Autosomal Recessive Osteopetrosis Type 3	Guibaud Vainsel Syndrome
Mixed Rta	Mixed Renal Tubular Acidosis
Renal Tubular Acidosis Type 3	Carbonic Anhydrase Ii Deficiency Syndrome
Carbonic Anhydrase Ii Variant	Osteopetrosis, Autosomal Recessive, Type 3
Carbonic Anhydrase 2

Otitis Externa

Swimmer'S Ear	Infective Otitis Externa
Acute Infective Otitis Externa

Auditory System Disease

Ear Diseases

Ear And Mastoid Disease

Autosomal Recessive Nonsyndromic Deafness

Deafness, Autosomal Recessive, Nonsyndromic

Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13453	SMPX Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SMPX	RGD	RGD:69233
Bos taurus	SMPX	VGNC	VGNC:50572
Mus musculus	SMPX	MGD	MGI:1913356
Canis familiaris	SMPX	VGNC	VGNC:54667

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