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  2. PPP1R21 - protein phosphatase 1 regulatory subunit 21 Gene

PPP1R21 - protein phosphatase 1 regulatory subunit 21 Gene

Homo sapiens

Also known as KLRAQ1; CCDC128; NEDHFBA

Gene ID: 129285 | Gene type: protein coding

About PPP1R21

Cytogenetic location: 2p16.3 Genomic coordinates (GRCh38): 2:48,440,766-48,515,386 (from NCBI)

This gene has 9 transcripts (splice variants), 205 orthologues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 15.5), kidney (RPKM 15.1) and 25 other tissues.

Summary

Located in early endosome. [provided by Alliance of Genome Resources, Apr 2022]

PPP1R21 Products(3)

mRNA Protein Name
NM_001135629.3 NP_001129101.1 protein phosphatase 1 regulatory subunit 21 isoform 1
NM_001193475.2 NP_001180404.1 protein phosphatase 1 regulatory subunit 21 isoform 5
NM_152994.5 NP_694539.1 protein phosphatase 1 regulatory subunit 21 isoform 2

PPP1R21 Protein Structure

KLRAQ

KLRAQ: Predicted coiled-coil domain-containing protein (11 - 112)

TTKRSYEDQ

TTKRSYEDQ: Predicted coiled-coil domain-containing protein (255 - 771)

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  • 780 a.a.
Protein Preferred Names Protein Names

protein phosphatase 1 regulatory subunit 21

KLRAQ motif containing 1

Related Diseases

Diseases Alias
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities

NEDHFBA

Fissured Tongue

Furrowed Tongue

Plicated Tongue

Tongue, Fissured

Congenital Fissure Of Tongue

Congenital Plicated Tongue

Fissure Of Tongue

Fissure Of Tongue, Congenital

Geographic Tongue And Fissured Tongue

Lingua Plicata

Scrotal Tongue

Cerebellar Hypoplasia
Ceroid Lipofuscinosis, Neuronal, 10

Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency

Neuronal Ceroid Lipofuscinosis 10

CLN10

Cathepsin D Deficiency

Congenital Neuronal Ceroid Lipofuscinosis

Neuronal Ceroid Lipofuscinosis Cathepsin D-Deficient

Cln10 Disease

Ceroid Lipofuscinosis, Neuronal, Cathepsin D-Deficient

Cln10 Disease, Adult

Cln10 Disease, Congenital

Cln10 Disease, Juvenile

Cln10 Disease, Late Infantile

Ceroid Lipofuscinosis Neuronal Cathepsin D-Deficient

Cathepsin D Deficient Neuronal Ceroid Lipofuscinosis

Congenital Ncl

Lipofuscinosis, Ceroid, Neuronal, Type 10

Neuronal Ceroid Lipofuscinosis, Congenital

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
Bos taurus PPP1R21 VGNC VGNC:33236
Macaca mulatta PPP1R21 VGNC VGNC:76349
Mus musculus PPP1R21 MGD MGI:1921075
Rattus norvegicus PPP1R21 RGD RGD:1565310
Canis familiaris PPP1R21 VGNC VGNC:44889
Felis catus PPP1R21 VGNC VGNC:64322