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SHROOM3 - shroom family member 3 Gene

Also Known as SHRM; APXL3; ShrmL; MSTP013

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57619

About SHROOM3

Cytogenetic location: 4q21.1 Genomic coordinates (GRCh38): 4:76,435,229-76,783,253 (from NCBI)

This gene has 13 transcripts (splice variants), 220 orthologues, 3 paralogues and is associated with 1 phenotype. Broad expression in colon (RPKM 6.8), gall bladder (RPKM 5.4) and 20 other tissues.

Summary

This gene encodes a PDZ-domain-containing protein that belongs to a family of Shroom-related proteins. This protein may be involved in regulating cell shape in certain tissues. A similar protein in mice is required for proper neurulation. [provided by RefSeq, Jan 2011]

SHROOM3 Products (1)

mRNA	Protein	Name
NM_020859.4	NP_065910.3	protein Shroom3

SHROOM3 Protein Structure

PDZ

ASD1

ASD2

0
400
800
1200
1600
1996 a.a.

Protein Preferred Names	Protein Names
protein Shroom3	F-actin-binding protein

Related Diseases

Diseases	Alias
Neutrophil Actin Dysfunction	NAD
Anencephaly	Aprosencephaly Anencephalus Congenital Absence Of Brain Absence Of A Large Part Of The Brain And The Skull Anencephalia Anencephalic Monster Brain Absence Brain Agenesis Brain Aplasia Absent Brain Anencephalic Congenital Absence Of Cerebrum Congenital Hemicrania Incomplete Anencephaly
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Spondyloepimetaphyseal Dysplasia, Pakistani Type Spondyloepimetaphyseal Dysplasia, Papss2 Type BCYM4 Semd, Pakistani Type Spondylodysplasia And Premature Pubarche Brachyolmia 4 With Mild Epiphyseal And Metaphyseal Changes Spondyloepimetaphyseal Dysplasia Pakistani Type Semd Pakistani Type Spondylometaepiphyseal Dysplasia Pakistani Type Brachyolmia, Type 4, With Mild Epiphyseal And Metaphyseal Changes
Spina Bifida Occulta
Atrial Septal Defect 2	ASD2 Atrial Heart Septal Defect 2 Atrial Septal Defect-2 Asd Ii Septal Defect, Atrial, Type 2
Developmental And Epileptic Encephalopathy 94	Epileptic Encephalopathy, Childhood-Onset Eeoc DEE94 Childhood Onset Epileptic Encephalopathy Encephalopathy, Epileptic, Childhood-Onset
Leukoencephalopathy, Cystic, Without Megalencephaly	Cystic Leukoencephalopathy Without Megalencephaly Rnaset2-Deficient Cystic Leukoencephalopathy Rnase T2-Deficient Leukoencephalopathy Clwm Leukoencephalopathy With Bilateral Anterior Temporal Lobe Cysts Infantile-Onset Rnaset2 Deficient Cystic Leukoencephalopathy Lbatc LCWM
Myelomeningocele	Meningomyelocele
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Familial Juvenile Hyperuricemic Nephropathy Mckd2 Familial Juvenile Hyperuricemic Nephropathy Type 1 Fjhn Medullary Cystic Kidney Disease 2 Uromodulin-Associated Kidney Disease Medullary Cystic Kidney Disease Type 2 ADTKD1 Hnfj1 Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria Adtkd-Umod Familial Juvenile Hyperuricemic Nephropathy 1 Umod-Related Adtkd Umod-Related Autosomal Dominant Tubulointerstitial Kidney Disease Hyperuricemic Nephropathy, Familial Juvenile, 1 Gouty Nephropathy, Familial Juvenile Medullary Cystic Kidney Disease 2, Autosomal Dominant Admckd2 Autosomal Dominant Tubulointerstitial Kidney Disease Due To Umod Mutations Adtkd Due To Umod Mutations Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related Autosomal Dominant Medullary Cystic Kidney Disease Type 2 Umod-Associated Kidney Disease Uromodulin Kidney Disease Familial Gout-Kidney Disease Familial Gouty Nephropathy Umak Umod-Related Kidney Disease Uromodulin Storage Disease Fjhn1 Gouty Nephropathy Familial Juvenile Nephropathy Familial With Gout Hyperuricemic Nephropathy, Familial Juvenile 1 Hyperuricemic Nephropathy, Familial Juvenile Kidney Disease, Glomerulocystic, With Hyperuricemia And Isosthenuria Nephropathy, Hyperuricemic, Juvenile, Familial, Type 1 Kidney Disease, Cystic, Medullary, Type 2 Medullary Cystic Kidney Disease Type Ii Familial Juvenile Gout
Cystinuria	CSNU Cystinuria Type B Cystinuria Type A Cystinuria, Type I, Formerly Csnu1, Formerly Cystinuria, Type Ii, Formerly Cystinuria, Type Iii, Formerly Csnu3, Formerly Cystinuria, Type Non-I, Formerly Cystinuria-Lysinuria Cystinuria-Lysinuria Syndrome Csnu1 Csnu3 Cystinuria 1 Cystinuria Type A/B Cystinuria Type I Cystinuria Type Ii Cystinuria Type Iii Cystinuria Type Non-I Cystinuria, Type A/B Cystinuria Type 1 Cystinuria - Lysinuria Csnu - [Cystinuria] Cystine Disease
Meckel Syndrome, Type 1	Meckel-Gruber Syndrome Meckel Syndrome Dysencephalia Splanchnocystica Meckel Syndrome 1 MKS1 Mks Gruber Syndrome Meckel-Gruber Syndrome, Type 1 Mes Dysencephalia Splachnocystica Meckel Gruber Syndrome Meckel Syndrome Type 1
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

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-RS12886	SHROOM3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SHROOM3	MGD	MGI:1351655
Macaca mulatta	SHROOM3	VGNC	VGNC:77352
Rattus norvegicus	SHROOM3	RGD	RGD:1310470
Canis familiaris	SHROOM3	VGNC	VGNC:46158
Felis catus	SHROOM3	VGNC	VGNC:65134
Bos taurus	SHROOM3	VGNC	VGNC:34609