DEF8 - differentially expressed in FDCP 8 homolog Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 54849

About DEF8

This gene has 29 transcripts (splice variants), 197 orthologues and 4 paralogues. Ubiquitous expression in lymph node (RPKM 14.4), appendix (RPKM 9.2) and 25 other tissues.

Summary

Predicted to enable metal ion binding activity. Predicted to be involved in lysosome localization; positive regulation of bone resorption; and positive regulation of ruffle assembly. [provided by Alliance of Genome Resources, Apr 2022]

DEF8 Products (9)

mRNA Protein Name
NM_001242816.2 NP_001229745.1 differentially expressed in FDCP 8 homolog isoform 3
NM_001242817.2 NP_001229746.1 differentially expressed in FDCP 8 homolog isoform 4
NM_001242818.2 NP_001229747.1 differentially expressed in FDCP 8 homolog isoform 5
NM_001242819.1 NP_001229748.1 differentially expressed in FDCP 8 homolog isoform 6
NM_001242820.2 NP_001229749.1 differentially expressed in FDCP 8 homolog isoform 5
NM_001242821.2 NP_001229750.1 differentially expressed in FDCP 8 homolog isoform 2
NM_001242822.2 NP_001229751.1 differentially expressed in FDCP 8 homolog isoform 2
NM_017702.4 NP_060172.1 differentially expressed in FDCP 8 homolog isoform 2
NM_207514.3 NP_997397.1 differentially expressed in FDCP 8 homolog isoform 1

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DEF8 Protein Structure

C1_1

C1_1: Phorbol esters/diacylglycerol binding domain (C1 domain) (200 - 251)

zf-RING_9

zf-RING_9: Putative zinc-RING and/or ribbon (295 - 498)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 512 a.a.
Protein Preferred Names Protein Names

differentially expressed in FDCP 8 homolog

  • DEF-8

Related Diseases

Diseases Alias
Photoallergic Dermatitis

  • Dermatitis, Photoallergic

  • Photoallergic Contact Dermatitis

  • Photoallergic Eczema

  • Photo-Allergic Contact Eczema
Fanconi Anemia, Complementation Group A

  • Fanconi Anemia

  • Fanconi Pancytopenia

  • Fanconi Anemia Complementation Group A

  • FANCA

  • Fa

  • Fanconi Panmyelopathy

  • Fanconi'S Anemia

  • Fanconi Anaemia

  • Fanconi'S Anaemia

  • Fanconi Hypoplastic Anemia

  • Estren-Dameshek Variant Of Fanconi Anemia

  • Estren-Dameshek Variant Of Fanconi Pancytopenia

  • Fanconi Anemia Estren-Dameshek Variant

  • Fanconis Anemia
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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS03672 DEF8 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta DEF8 VGNC VGNC:71712
Bos taurus DEF8 VGNC VGNC:27987
Felis catus DEF8 VGNC VGNC:61426
Rattus norvegicus DEF8 RGD RGD:1309008
Mus musculus DEF8 MGD MGI:1346331
Canis familiaris DEF8 VGNC VGNC:39875
Others DEF8 NCBI