Multiple PDZ Domain Protein

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OMIM Number

603785

NCBI Gene ID

8777

Uniprot ID

O75970

Length

174,367 bases

No. of Exons

51

No. of isoforms

4

Protein Name

Multiple PDZ domain protein

Molecular Mass

221618 Da

Amino Acid Count

2070

Genomic Location

chr9:13,105,296-13,279,662

Gene Map Locus
9p23

Description

The MPDZ gene encodes a protein with multiple PDZ domains.  These PDZ domains are protein motifs known to mediate protein-protein interactions; specifically, they interact with the C-terminal tail sequences of certain ion channel subunits and G protein-coupled receptors.  The MPDZ protein is involved in cell adhesion and the viral process.  It is believed to interact with HTR2C (a G-protein-coupled receptor for serotonin) and induce its clustering at the cell surface.

The gene has been implicated in Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 (HYC2), a congenital communicating hydrocephalus resulting in macrocephaly, seizures and mildly decreased IQ. 

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001378778.1:c.4469delPalestineNC_000009.12:g.13126768delPathogenicPathogenicHydrocephalus, congenital, 2, with or without brain or eye anomalies NG_042810.1:g.157797del; NM_001378778.1:c.4469del; NP_001365707.1:p.Gln1490ArgfsTer19781251438548147
NM_001378778.1:c.5278G>AKuwaitNC_000009.12:g.13119603C>TUncertain SignificancePathogenicHydrocephalus, congenital, 2, with or without brain or eye anomalies NG_042810.1:g.164962G>A; NM_001378778.1:c.5278G>A; NP_001365707.1:p.Ala1760Thr1554644827548150
NM_001378778.1:c.628C>TSaudi ArabiaNC_000009.12:g.13222352G>APathogenicPathogenicHydrocephalus, congenital, 2, with or without brain or eye anomalies NG_042810.1:g.62213C>T; NM_001378778.1:c.628C>T; NP_001365707.1:p.Gln210Ter37212761050213
NM_003829.5:c.1744C>GUnited Arab EmiratesNC_000009.12:g.13193226G>ALikely PathogenicHydrocephalus, congenital, 2, with or without brain or eye anomalies NG_042810.1:g.91339C>G; NM_003829.5:c.1744C>G; NP_003820.2:p.Leu582Val201275925
NM_003829.5:c.394G>AUnited Arab EmiratesNC_000009.12:g.13223710C>TLikely Pathogenic, Uncertain SignificanceLikely PathogenicHydrocephalus, congenital, 2, with or without brain or eye anomalies NG_042810.1:g.60855G>A; NM_003829.5:c.394G>A; NP_003820.2:p.Gly132Ser201101621992337
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