MPDZ - multiple PDZ domain crumbs cell polarity complex component Gene

Also Known as HYC2; MUPP1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8777

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

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11802782	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in apicolateral plasma membrane	IDA IDA: Inferred from direct assay	15364909	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	15364909	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

MPDZ Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MPDZ	O75970	PLEKHA1	Homo sapiens	Q9HB21	Pull Down	11802782
Intra	MPDZ	O75970	PLEKHA1	Homo sapiens	Q9HB21	Pull Down	14516276
Intra	MPDZ	O75970	PLEKHA1	Homo sapiens	Q9HB21	Y2H Pooling	11802782
Intra	MPDZ	O75970	SSTR3	Homo sapiens	P32745	Y2H	19071123
Intra	MPDZ	O75970	SSTR3	Homo sapiens	P32745	IF	19071123
Intra	MPDZ	O75970	OR2AG1	Homo sapiens	Q9H205	Anti Tag CoIP	19909339
Intra	MPDZ	O75970	OR2AG1	Homo sapiens	Q9H205	Pull Down	19909339
Cross	MPDZ	O75970	Plekha2	Mus musculus	Q9ERS5	Y2H Array	11802782
Cross	MPDZ	O75970	Plekha2	Mus musculus	Q9ERS5	Pull Down	11802782

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS07732	LNX1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS08609	MPDZ Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	MPDZ	NCBI