1. Gene
  2. PDCD6 - programmed cell death 6 Gene

PDCD6 - programmed cell death 6 Gene

Homo sapiens

Also known as ALG2; ALG-2; PEF1B

Gene ID: 10016 | Gene type: protein coding

About PDCD6

Cytogenetic location: 5p15.33 Genomic coordinates (GRCh38): 5:271,646-314,974 (from NCBI)

This gene has 12 transcripts (splice variants), 189 orthologues and 20 paralogues. Ubiquitous expression in colon (RPKM 23.5), adrenal (RPKM 21.4) and 25 other tissues.

Summary

This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. Calcium binding is important for homodimerization and for conformational changes required for binding to other protein partners. This gene product participates in T cell receptor-, Fas-, and glucocorticoid-induced programmed cell death. In mice deficient for this gene product, however, Apoptosis was not blocked suggesting this gene product is functionally redundant. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is also located on the short arm of chromosome 5. [provided by RefSeq, May 2012]

PDCD6 Products(5)

mRNA Protein Name
NM_001267556.2 NP_001254485.1 programmed cell death protein 6 isoform 2
NM_001267557.2 NP_001254486.1 programmed cell death protein 6 isoform 3
NM_001267558.2 NP_001254487.1 programmed cell death protein 6 isoform 4
NM_001267559.2 NP_001254488.1 programmed cell death protein 6 isoform 5
NM_013232.4 NP_037364.1 programmed cell death protein 6 isoform 1

PDCD6 Protein Structure

EF-hand_8

EF-hand_8: EF-hand domain pair (40 - 89)

EF-hand_7

EF-hand_7: EF-hand domain pair (96 - 154)

  • 0
  • 100
  • 191 a.a.
Protein Preferred Names Protein Names

programmed cell death protein 6

apoptosis-linked gene 2 protein homolog

Related Diseases

Diseases Alias
Ocular Melanoma

Intraocular Melanoma

Uveal Melanoma

Eye Melanoma

Melanoma Of Eye

Melanoma Of The Uvea

Malignant Melanoma Of Eye

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 PDCD6 VGNC VGNC:32663
Canis familiaris PDCD6 VGNC VGNC:44340
Rattus norvegicus PDCD6 RGD RGD:1311239
Felis catus PDCD6 VGNC VGNC:102284
Mus musculus PDCD6 MGD MGI:109283
Others PDCD6 NCBI