1. Gene
  2. PLEKHH2 - pleckstrin homology, MyTH4 and FERM domain containing H2 Gene

PLEKHH2 - pleckstrin homology, MyTH4 and FERM domain containing H2 Gene

Homo sapiens

Also known as PLEKHH1L

Gene ID: 130271 | Gene type: protein coding

About PLEKHH2

Cytogenetic location: 2p21 Genomic coordinates (GRCh38): 2:43,637,260-43,767,987 (from NCBI)

This gene has 8 transcripts (splice variants), 195 orthologues and 1 paralogue. Broad expression in lung (RPKM 15.4), endometrium (RPKM 10.8) and 21 other tissues.

Summary

Predicted to enable actin binding activity. Predicted to be involved in negative regulation of actin filament depolymerization. Located in several cellular components, including cytosol; lamellipodium; and nuclear body. [provided by Alliance of Genome Resources, Apr 2022]

PLEKHH2 Products(1)

mRNA Protein Name
NM_172069.4 NP_742066.2 pleckstrin homology domain-containing family H member 2
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasm IDA
IDA: Inferred from direct assay
22832517 GOA
located in lamellipodium IDA
IDA: Inferred from direct assay
22832517 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
22832517 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

PLEKHH2 Protein Structure

PH

PH: PH domain (705 - 796)

MyTH4

MyTH4: MyTH4 domain (999 - 1109)

FERM_M

FERM_M: FERM central domain (1235 - 1354)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1493 a.a.
Protein Preferred Names Protein Names

pleckstrin homology domain-containing family H member 2

pleckstrin homology domain containing, family H (with MyTH4 domain) member 2

Related Diseases

Diseases Alias
Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Focal Glomerulosclerosis

Fsgs

Segmental Glomerulosclerosis

Glomerulosclerosis, Focal Segmental

Fgs

Focal Glomerular Sclerosis

Familial Idiopathic Nephrotic Syndrome

Focal Sclerosis With Hyalinosis

Glomerulosclerosis, Focal

Glomerulosclerosis Focal

Glomerulosclerosis, Segmental, Focal

Focal Segmental Glomerulosclerosis, Not Otherwise Specified

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

Orthologs Information

Species Symbol Source ID
Canis familiaris PLEKHH2 VGNC VGNC:44683
Felis catus PLEKHH2 VGNC VGNC:64234
Bos taurus PLEKHH2 VGNC VGNC:33021
Macaca mulatta PLEKHH2 VGNC VGNC:76146
Mus musculus PLEKHH2 MGD MGI:2146813
Rattus norvegicus PLEKHH2 RGD RGD:1304935