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SHROOM4 - shroom family member 4 Gene

Also Known as SHAP; shrm4; MRXSSDS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57477

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

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 Set	/	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
Others	SHROOM4	NCBI