1. Gene
  2. SHROOM3 - shroom family member 3 Gene

SHROOM3 - shroom family member 3 Gene

Homo sapiens

Also known as SHRM; APXL3; ShrmL; MSTP013

Gene ID: 57619 | Gene type: protein coding

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

PDZ: PDZ domain (Also known as DHR or GLGF) (34 - 106)

ASD1

ASD1: Apx/Shroom domain ASD1 (883 - 1066)

ASD2

ASD2: Apx/Shroom domain ASD2 (1671 - 1956)

  • 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

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