PLEKHA7 - pleckstrin homology domain containing A7 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 144100

About PLEKHA7

Cytogenetic location: 11p15.2-p15.1 Genomic coordinates (GRCh38): 11:16,777,297-17,014,414 (from NCBI)

This gene has 21 transcripts (splice variants), 277 orthologues and 3 paralogues. Ubiquitous expression in esophagus (RPKM 8.9), duodenum (RPKM 8.8) and 24 other tissues.

Summary

Enables delta-catenin binding activity. Involved in epithelial cell-cell adhesion; pore complex assembly; and zonula adherens maintenance. Located in several cellular components, including centrosome; nucleoplasm; and zonula adherens. Part of pore complex. [provided by Alliance of Genome Resources, Apr 2022]

PLEKHA7 Products (4)

mRNA	Protein	Name
NM_001329630.2	NP_001316559.1	pleckstrin homology domain-containing family A member 7 isoform 1
NM_001329631.2	NP_001316560.1	pleckstrin homology domain-containing family A member 7 isoform 3
NM_001410960.1	NP_001397889.1	pleckstrin homology domain-containing family A member 7 isoform 4
NM_175058.5	NP_778228.3	pleckstrin homology domain-containing family A member 7 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables delta-catenin binding	IDA IDA: Inferred from direct assay	19041755	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	28877994	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in epithelial cell-cell adhesion	IMP IMP: Inferred from mutant phenotype	19041755	GOA
involved in pore complex assembly	IMP IMP: Inferred from mutant phenotype	30463011	GOA
involved in zonula adherens maintenance	IMP IMP: Inferred from mutant phenotype	19041755	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in centrosome	IDA IDA: Inferred from direct assay	19041755	GOA
part of pore complex	IMP IMP: Inferred from mutant phenotype	30463011	GOA
located in zonula adherens	IDA IDA: Inferred from direct assay	19041755	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

PLEKHA7 Protein Structure

PH

0
200
400
600
800
1000
1121 a.a.

Protein Preferred Names	Protein Names
pleckstrin homology domain-containing family A member 7	PH domain-containing family A member 7

PLEKHA7 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	PLEKHA7	Q6IQ23	YWHAE	Homo sapiens	P62258	Crosslink	36931259
Intra	PLEKHA7	Q6IQ23	YWHAE	Homo sapiens	P62258	Anti Bait CoIP	28877994
Intra	PLEKHA7	Q6IQ23	AGO2	Homo sapiens	Q9UKV8	Anti Bait CoIP	28877994

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Cleft Lip With Or Without Cleft Palate	Tessier Cleft Number 1,2
Primary Angle-Closure Glaucoma	Primary Angle Closure Glaucoma Angle Closure Glaucoma Acg - [Angle Closure Glaucoma] Angle-Closure Glaucoma Closed Angle Glaucoma Acute Glaucoma Prodromal Angle Closure Glaucoma
Purulent Acute Otitis Media	Acute Suppurative Otitis Media Acute Or Subacute Suppurative Otitis Media Acute Or Subacute Purulent Otitis Media
Marshall Syndrome	MRSHS Deafness, Myopia, Cataract, Saddle Nose-Marshall Type Periodic Fever, Aphthous Stomatitis, Pharyngitis And Adenitis Pfapa Syndrome Pfapa Marshall Syndrome With Periodic Fever Periodic Fever-Aphtous Stomatitis-Pharyngitis-Adenopathy Syndrome
Metanephric Adenoma
Renal Adenoma	Renal Cell Adenoma
Chronic Closed-Angle Glaucoma	Anatomical Narrow Angle Glaucoma Chronic Angle-Closure Glaucoma Chronic Narrow Angle Glaucoma Secondary Angle-Closure Glaucoma - Synechial
Blepharocheilodontic Syndrome 1	Blepharocheilodontic Syndrome Bcd Syndrome Elschnig Syndrome Clefting, Ectropion, And Conical Teeth Lagophthalmia With Bilateral Cleft Lip And Palate Blepharo-Cheilo-Odontic Syndrome Bcds Ectropion, Inferior, With Cleft Lip And/Or Palate Blepharo-Cheilo-Dontic Syndrome BCDS1 Ectropion Inferior Cleft Lip And Or Palate Clefting-Ectropion-Conical Teeth Syndrome Ectropion Inferior-Cleft Lip And/Or Palate Syndrome Lagophthalmia-Cleft Lip And Palate Syndrome Blepharocheilodontic Syndrome, Type 1
Stickler Syndrome	Arthroophthalmopathy Hereditary Arthro-Ophthalmo-Dystrophy Hereditary Arthro-Ophthalmopathy Stickler Dysplasia Hereditary Progressive Arthroophthalmopathy Stickler Syndrome, Type 1
Nanophthalmos	Nanophthalmia
Glaucoma, Primary Open Angle	Glaucoma 1, Open Angle, E Primary Open Angle Glaucoma POAG Adult-Onset Primary Open Angle Glaucoma Chronic Simple Glaucoma GLC1E Primary Open Angle Glaucoma 1e Glaucoma, Open Angle, Primary
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate

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)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS10684	PLEKHA7 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PLEKHA7	MGD	MGI:2445094
Macaca mulatta	PLEKHA7	VGNC	VGNC:76121
Bos taurus	PLEKHA7	VGNC	VGNC:33008
Felis catus	PLEKHA7	VGNC	VGNC:64220
Rattus norvegicus	PLEKHA7	RGD	RGD:1598216
Canis familiaris	PLEKHA7	VGNC	VGNC:44671
Others	PLEKHA7	NCBI