SHROOM4 - shroom family member 4 Gene

Homo sapiens

Also known as SHAP; shrm4; MRXSSDS

Gene ID: 57477 | Gene type: protein coding

About SHROOM4

Cytogenetic location: Xp11.22 Genomic coordinates (GRCh38): X:50,575,534-50,814,194 (from NCBI)

This gene has 5 transcripts (splice variants), 254 orthologues, 3 paralogues and is associated with 2 phenotypes. Broad expression in lung (RPKM 5.3), fat (RPKM 2.8) and 19 other tissues.

Summary

This gene encodes a member of the APX/Shroom family, which contain an N-terminal PDZ domain and a C-terminal ASD2 motif. The encoded protein may play a role in cytoskeletal architecture. Mutations in this gene have been linked to the X-linked Stocco dos Santos syndrome characterized by cognitive disabilities. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2017]

SHROOM4 Products(1)

mRNA	Protein	Name
NM_020717.5	NP_065768.2	protein Shroom4

SHROOM4 Protein Structure

PDZ

ASD2

0
300
600
900
1200
1493 a.a.

Protein Preferred Names

Protein Names

protein Shroom4

second homolog of apical protein

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type

Stocco Dos Santos X-Linked Mental Retardation Syndrome	SDSX
Mental Retardation, X-Linked, Syndromic, Stocco Dos Santos Type	Mrxsds
Intellectual Developmental Disorder, X-Linked Syndromic, Stocco Dos Santos Type	Intellectual Deficit X-Linked Stocco Dos Santos Type
Stocco Dos Santos Syndrome

Stocco Dos Santos Type X-Linked Intellectual Disability

X-Linked Intellectual Disability, Stocco Dos Santos Type	Stocco Dos Santos Syndrome
Sdsx	Stocco Dos Santos X-Linked Mental Retardation Syndrome

Santos Syndrome

Fibular Agenesis/Hypoplasia, Oligodactylous Clubfeet, And Anonychia/Nail Hypoplasia Syndrome

Atrial Septal Defect 2

ASD2	Atrial Heart Septal Defect 2
Atrial Septal Defect-2	Asd Ii
Septal Defect, Atrial, Type 2

Syndromic X-Linked Intellectual Disability Siderius Type

Mrxssd	Siderius-Hamel Syndrome
Siderius X-Linked Mental Retardation Syndrome

Chromosome Xp11.22 Duplication Syndrome

Mrx17	Mental Retardation, X-Linked 31
Mrx31	Xp11.22 Microduplication Syndrome
X-Linked Mental Retardation 31	Mental Retardation, X-Linked 17

Nephronophthisis 1

NPHP1	Nephronophthisis, Familial Juvenile
Nph1	Nephronophthisis 1, Juvenile
Juvenile Nephronophthisis 1	Familial Juvenile Nephronophthisis 1
Nephronophthisis, Type 1

Parkinsonism With Spasticity, X-Linked

X-Linked Parkinsonism-Spasticity Syndrome	XPDS
X-Linked Parkinsonism With Spasticity

Rett Syndrome

Atypical Rett Syndrome	RTT
Rett Disorder	Rts
Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use	Rett Syndrome, Preserved Speech Variant
Rett Syndrome, Atypical	Rett'S Disorder
Rett Syndrome Variant	Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome
Cerebroatrophic Hyperammonemia	Rett Like Syndrome
Rett'S Syndrome	Atypical Rtt
Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use	Rett Syndrome Preserved Speech Variant
Rett Syndrome Zappella Variant	Rett Syndrome, Zappella Variant

Syndromic Intellectual Disability

Syndromic X-Linked Intellectual Disability

X-Linked Syndromic Intellectual Disability

Atrial Heart Septal Defect

Atrial Septal Defect	Atrial Septal Defects
Atrioseptal Defect	Auricular Septal Defect
Congenital Atrial Septal Defect	Interatrial Septal Defect
Interauricular Septal Defect	Heart Septal Defects, Atrial
Septal Defect, Atrial

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-RS12887	SHROOM4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SHROOM4	VGNC	VGNC:34610
Canis familiaris	SHROOM4	VGNC	VGNC:46159
Rattus norvegicus	SHROOM4	RGD	RGD:1563434
Macaca mulatta	SHROOM4	VGNC	VGNC:77331
Mus musculus	SHROOM4	MGD	MGI:2685570
Felis catus	SHROOM4	VGNC	VGNC:65135

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