2. Gene
  3. PLEKHA7 - pleckstrin homology domain containing A7 Gene

PLEKHA7 - pleckstrin homology domain containing A7 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens
Gene ID: 144100 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

PH: PH domain (166 - 280)

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  • 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 Reference
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS10684 PLEKHA7 Human Pre-designed siRNA Set A Pre-designed Sets / 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