MPDZ - multiple PDZ domain crumbs cell polarity complex component Gene

Homo sapiens

Also known as HYC2; MUPP1

Gene ID: 8777 | Gene type: protein coding

About MPDZ

Cytogenetic location: 9p23 Genomic coordinates (GRCh38): 9:13,105,707-13,279,692 (from NCBI)

This gene has 18 transcripts (splice variants), 207 orthologues, 5 paralogues and is associated with 3 phenotypes. Ubiquitous expression in liver (RPKM 12.7), fat (RPKM 10.5) and 23 other tissues.

Summary

The protein encoded by this gene has multiple PDZ domains, which are hallmarks of protein-protein interactions. The encoded protein is known to interact with the HTR2C receptor and may cause it to clump at the cell surface. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]

MPDZ Products(18)

mRNA	Protein	Name
NM_001261406.2	NP_001248335.1	multiple PDZ domain protein isoform 2
NM_001261407.2	NP_001248336.1	multiple PDZ domain protein isoform 3
NM_001330637.2	NP_001317566.1	multiple PDZ domain protein isoform 4
NM_001375413.1	NP_001362342.1	multiple PDZ domain protein isoform 5
NM_001375416.1	NP_001362345.1	multiple PDZ domain protein isoform 2
NM_001375417.1	NP_001362346.1	multiple PDZ domain protein isoform 2
NM_001375418.1	NP_001362347.1	multiple PDZ domain protein isoform 2
NM_001375419.1	NP_001362348.1	multiple PDZ domain protein isoform 3
NM_001375420.1	NP_001362349.1	multiple PDZ domain protein isoform 6
NM_001375421.1	NP_001362350.1	multiple PDZ domain protein isoform 6
NM_001375422.1	NP_001362351.1	multiple PDZ domain protein isoform 6
NM_001375423.1	NP_001362352.1	multiple PDZ domain protein isoform 6
NM_001375424.1	NP_001362353.1	multiple PDZ domain protein isoform 6
NM_001375425.1	NP_001362354.1	multiple PDZ domain protein isoform 7
NM_001375426.1	NP_001362355.1	multiple PDZ domain protein isoform 7
NM_001375427.1	NP_001362356.1	multiple PDZ domain protein isoform 8
NM_001378778.1	NP_001365707.1	multiple PDZ domain protein isoform 4
NM_003829.5	NP_003820.2	multiple PDZ domain protein isoform 1

MPDZ Protein Structure

L27_2

PDZ

0
400
800
1200
1600
2070 a.a.

Protein Preferred Names

Protein Names

multiple PDZ domain protein

multi-PDZ domain protein 1

Related Diseases

Diseases

Alias

Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies

Hydrocephalus, Nonsyndromic, Autosomal Recessive 2	HYC2
Hydrocephalus, Nonsyndromic, Autosomal Recessive 2, Formerly	Hydrocephalus, Non-Syndromic, Autosomal Recessive 2
Hydrocephalus	Hydrocephalus, Nonsyndromic, Autosomal Recessive 1

Congenital Communicating Hydrocephalus

Congenital Non-Obstructive Hydrocephalus

Congenital Hydrocephalus

Hydrocephalus	Hydrocephalus Adverse Event
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1	Hydrocephalus In Newborn
Congenital Hydrocephaly

Hydrocephalus

Hydrocephalus, Nonsyndromic, Autosomal Recessive	Hydrocephalus, X-Linked
Hydrocephalus Adverse Event	Hydrocephaly Nos

Ventriculomegaly With Cystic Kidney Disease

VMCKD	Cystic Kidney Disease With Ventriculomegaly
Ventriculomegaly-Cystic Kidney Disease	Ventriculomegaly - Cystic Kidney Disease
Congenital Nephrosis-Cerebral Ventriculomegaly Syndrome

Myasthenic Syndrome, Congenital, 1a, Slow-Channel

Congenital Myasthenic Syndrome 1a	Congenital Myasthenic Syndrome 2a
CMS1A	Cms Iia
Congenital Myasthenic Syndrome Type Iia	Cms2a
Myasthenic Syndrome, Congenital, Type Iia, Formerly	Cms2a, Formerly
Cms Iia, Formerly	Congenital Myasthenic Syndrome 1a, Slow-Channel
Congenital Myasthenic Syndrome 2a Slow-Channel	Congenital Myasthenic Syndrome Post-Synaptic Slow-Channel
Myasthenic Syndrome, Congenital, Slow-Channel	Sccms
Myasthenic Syndrome, Congenital, Type 1a, Slow-Channel	Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel
Myasthenic Syndromes, Congenital, Slow Channel

Intraorbital Meningioma

Corneal Endothelial Dystrophy

Congenital Hereditary Endothelial Dystrophy Of Cornea	Chandler Syndrome
CHED	Chandler'S Syndrome
Endothelial Corneal Dystrophy	Ched2
Maumenee Corneal Dystrophy	Corneal Dystrophy, Congenital Hereditary Endothelial
Dystrophy Of Corneal Endothelium	Corneal Endothelial Dystrophy 2
Corneal Endothelial Dystrophy 2, Autosomal Recessive, Formerly	Ched2, Formerly
Corneal Endothelial Dystrophy, Autosomal Recessive	Endothelial Dystrophy
Posterior Membrane Corneal Dystrophy	Corneal Endothelial Dystrophy Type 2
Congenital Hereditary Endothelial Dystrophy Of The Cornea	Congenital Hereditary Endothelial Dystrophy Type Ii
Autosomal Recessive Ched	Autosomal Recessive Congenital Hereditary Endothelial Dystrophy
Chedii	Congenital Hereditary Endothelial Dystrophy Type 2
Infantile Hereditary Endothelial Dystrophy	Congenital Hereditary Endothelial Corneal Dystrophy
Corneal Endothelial Dystrophy 2, Autosomal Recessive	Iridocorneal Endothelial Syndrome
Dystrophy, Corneal, Endothelial	Corneal Endothelial Dystrophy 1, Autosomal Dominant

Keratoconus

Kc	Conical Cornea
Noninflammatory Corneal Thining	Bulging Cornea
Cornea Conical	Acquired Conus Of Cornea

Hyperekplexia 1

HKPX1	Exaggerated Startle Reaction
Sthe	Stiff-Baby Syndrome
Kok Disease	Startle Disease, Familial
Startle Reaction, Exaggerated	Stiff-Man Syndrome, Congenital
Stiff-Person Syndrome, Congenital	Congenital Stiff-Man Syndrome
Congenital Stiff-Person Syndrome	Familial Startle Disease
Hereditary Hyperexplexia 1	Hyperekplexia Hereditary 1 Autosomal Dominant Or Recessive
Hyperekplexia	Hereditary Hyperexplexia
Stiff-Person Syndrome

Cardiofaciocutaneous Syndrome 1

Cardiofaciocutaneous Syndrome	Cfc Syndrome
Cardio-Facio-Cutaneous Syndrome	CFC1
Cfcs	Cardio-Facial-Cutaneous Syndrome
Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities And Growth Failure	Cardiofaciocutaneous Syndrome, Type 1

Pettigrew Syndrome

PGS	Mrxs5
Mrx59	Mrxs21
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome	Mental Retardation, X-Linked, Syndromic 5
Mrxsf	Syndromic X-Linked Intellectual Disability 5
Fried Syndrome	Mental Retardation, X-Linked Syndromic 5
Mental Retardation, X-Linked, With Dandy-Walker Malformation, Basal Ganglia Disease, And Seizures	Mental Retardation, X-Linked, Syndromic, Fried Type
Mental Retardation, X-Linked, Syndromic 21	Syndromic X-Linked Mental Retardation 21
Syndromic X-Linked Mental Retardation Fried Type	X-Linked Metal Retardation With Dandy-Walker Malformation, Basal Ganglia Disease, And Seizures
Dandy-Walker Malformation With Intellectual Disability, Basal Ganglia Disease An	Dandy-Walker Malformation With Intellectual Disability, Basal Ganglia Disease And Seizures
X-Linked Syndromic Intellectual Disability 5	X-Linked Intellectual Disability With Dandy-Walker Malformation Basal Ganglia Disease And Seizures
X-Linked Intellectual Disability - Dandy-Walker Malformation - Basal Ganglia Disease - Seizures	X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Mental Retardation, X-Linked Syndromic, Fried Type	Dandy-Walker Malformation With Mental Retardation, Basal Ganglia Disease, And Seizures
Mental Retardation, X-Linked 59

Irregular Astigmatism

Obstructive Hydrocephalus

Communicating Hydrocephalus

Acquired Communicating Hydrocephalus

Dandy-Walker Syndrome

Dandy-Walker Malformation	DWS
Atresia Of Foramina Of Magendie And Luschka	Dandy-Walker Complex
Dandy-Walker Cyst	Dandy-Walker Deformity
Dandy Walker Cyst	Dw Complex
Dandy-Walker Syndrome Or Malformation	Dandy-Walker Variant
Mega Cisterna Magna	Dwm
Hydrocephalus, Internal, Dandy-Walker Type	Hydrocephalus, Noncommunicating, Dandy-Walker Type
Luschka-Magendie Foramina Atresia	Isolated Dandy-Walker Malformation
Mega-Cisterna Magna	Dandy Walker Variant
Atresia Of Foramen Of Luschka	Atresia Of Foramen Of Magendie
Congenital Blockage Of Foramen Magendie

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

Fuchs' Endothelial Dystrophy

Fuchs Endothelial Corneal Dystrophy	Fuchs Endothelial Dystrophy
Fuchs Dystrophy	Fced
Fuchs' Corneal Dystrophy	Fuchs' Endothelial Corneal Dystrophy
Fuchs Atrophy	Fuchs Corneal Dystrophy
Endoepithelial Corneal Dystrophy	Fecd
Late Hereditary Endothelial Dystrophy	Corneal Dystrophy, Fuchs Endothelial
Dystrophy, Corneal, Fuchs Endothelial	Corneal Dystrophy, Fuchs' Endothelial, 1

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08609	MPDZ Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	MPDZ	VGNC	VGNC:43332
Macaca mulatta	MPDZ	VGNC	VGNC:74914
Mus musculus	MPDZ	MGD	MGI:1343489
Felis catus	MPDZ	VGNC	VGNC:68305
Bos taurus	MPDZ	VGNC	VGNC:31572
Rattus norvegicus	MPDZ	RGD	RGD:3105