PPP4R4 - protein phosphatase 4 regulatory subunit 4 Gene

Homo sapiens

Also known as PP4R4; CFAP14; KIAA1622

Gene ID: 57718 | Gene type: protein coding

About PPP4R4

Cytogenetic location: 14q32.12-q32.13 Genomic coordinates (GRCh38): 14:94,174,322-94,279,734 (from NCBI)

This gene has 6 transcripts (splice variants), 1 gene allele and 199 orthologues. Biased expression in brain (RPKM 8.5), testis (RPKM 5.4) and 3 other tissues.

Summary

The protein encoded by this gene is a HEAT-like repeat-containing protein. The HEAT repeat is a tandemly repeated, 37-47 amino acid long module occurring in a number of cytoplasmic proteins. Arrays of HEAT repeats form a rod-like helical structure and appear to function as protein-protein interaction surfaces. The repeat-containing region of this protein has some similarity to the constant regulatory domain of the protein Phosphatase 2A PR65/A subunit. The encoded protein binds protein serine/threonine Phosphatase 4c in the cytoplasm. [provided by RefSeq, Jan 2017]

PPP4R4 Products(6)

mRNA	Protein	Name
NM_001348142.2	NP_001335071.1	serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform 3
NM_001348143.2	NP_001335072.1	serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform 4
NM_001348144.2	NP_001335073.1	serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform 4
NM_001348145.2	NP_001335074.1	serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform 5
NM_020958.3	NP_066009.2	serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform 2
NM_058237.2	NP_478144.1	serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform 1

Protein Preferred Names

Protein Names

serine/threonine-protein phosphatase 4 regulatory subunit 4

HEAT-like repeat-containing protein

Related Diseases

Diseases

Alias

Spondylocarpotarsal Synostosis Syndrome

SCT	Spondylocarpotarsal Syndrome
Vertebral Fusion With Carpal Coalition	Congenital Scoliosis With Unilateral Unsegmented Bar
Congenital Synspondylism	Spondylocarpotarsal Synostosis
Synspondylism, Congenital	Scoliosis, Congenital, With Unilateral Unsegmented Bar
Scoliosis, Congenital With Unilateral Unsegmented Bar	Synspondylism Congenital
Sct Syndrome	Synspondylism

D-Bifunctional Protein Deficiency

Bifunctional Peroxisomal Enzyme Deficiency	17-Beta-Hydroxysteroid Dehydrogenase Iv Deficiency
Dbp Deficiency	Peroxisomal Bifunctional Enzyme Deficiency
Pbfe Deficiency	Bifunctional Enzyme Deficiency
Pseudo-Zellweger Syndrome	Zellweger-Like Syndrome
DBPD	Protein Deficiency, D-Bifunctional

Perrault Syndrome

Gonadal Dysgenesis, Xx Type, With Deafness	Ovarian Dysgenesis With Sensorineural Deafness
Gonadal Dysgenesis, Xx Type	Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance
Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance	Xx Gonodal Dysgenesis-Deafness Syndrome
Xx Gonodal Dysgenesis-Hearing Loss Syndrome	Gonadal Dysgenesis Xx Type Deafness

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-RS11031	PPP4R4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PPP4R4	MGD	MGI:1921771
Felis catus	PPP4R4	VGNC	VGNC:64331
Bos taurus	PPP4R4	VGNC	VGNC:53947
Canis familiaris	PPP4R4	VGNC	VGNC:44924
Macaca mulatta	PPP4R4	VGNC	VGNC:76306
Rattus norvegicus	PPP4R4	RGD	RGD:1560932

Name
Email *

	Sorry, but the email address you supplied was invalid.