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  2. PPP4R4 - protein phosphatase 4 regulatory subunit 4 Gene

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

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