1. Gene
  2. SCYL2 - SCY1 like pseudokinase 2 Gene

SCYL2 - SCY1 like pseudokinase 2 Gene

Homo sapiens

Also known as AMC4; AMCNACC; CVAK104

Gene ID: 55681 | Gene type: protein coding

About SCYL2

Cytogenetic location: 12q23.1 Genomic coordinates (GRCh38): 12:100,267,177-100,341,715 (from NCBI)

This gene has 11 transcripts (splice variants), 213 orthologues, 2 paralogues and is associated with 1 phenotype. Ubiquitous expression in colon (RPKM 12.7), esophagus (RPKM 10.5) and 25 other tissues.

Summary

The protein encoded by this gene associates with clathrin-coated complexes at the plasma membrane and with endocytic coated vesicles. The encoded protein phosphorylates the beta2 subunit of the plasma membrane adapter complex AP2 and interacts with clathrin, showing involvement in clathrin-dependent pathways between the trans-Golgi network and the endosomal system. In addition, this protein has a role in the Wnt signaling pathway by targeting Frizzled 5 (Fzd5) for lysosomal degradation. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2015]

SCYL2 Products(5)

mRNA Protein Name
NM_001317784.2 NP_001304713.1 SCY1-like protein 2 isoform 1
NM_001330253.2 NP_001317182.1 SCY1-like protein 2 isoform 2
NM_001330254.2 NP_001317183.1 SCY1-like protein 2 isoform 2
NM_001330256.2 NP_001317185.1 SCY1-like protein 2 isoform 3
NM_017988.6 NP_060458.3 SCY1-like protein 2 isoform 1

SCYL2 Protein Structure

Pkinase

Pkinase: Protein kinase domain (34 - 327)

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  • 929 a.a.
Protein Preferred Names Protein Names

SCY1-like protein 2

SCY1-like 2

Related Diseases

Diseases Alias
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum

Arthrogryposis Multiplex Congenita, Neurogenic, With Agenesis Of The Corpus Callosum

AMC4

Amcnacc

Zain Syndrome

Arthrogryposis Multiplex Congenita-4

Zain Syndrome

Geroderma Osteodysplasticum

Gerodermia Osteodysplastica

Geroderma Osteodysplastica

GO

Walt Disney Dwarfism

Type Of Gerodermia Osteodysplastica

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
Macaca mulatta SCYL2 VGNC VGNC:100102
Canis familiaris SCYL2 VGNC VGNC:45939
Bos taurus SCYL2 VGNC VGNC:34375
Mus musculus SCYL2 MGD MGI:1289172
Rattus norvegicus SCYL2 RGD RGD:1305665
Felis catus SCYL2 VGNC VGNC:64941
Others SCYL2 NCBI