SMPX - small muscle protein X-linked Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23676

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

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 Set	/	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
Others	SMPX	NCBI