1. Gene
  2. DENND5B - DENN domain containing 5B Gene

DENND5B - DENN domain containing 5B Gene

Homo sapiens
Gene ID: 160518 | Gene type: protein coding

About DENND5B

Cytogenetic location: 12p11.21 Genomic coordinates (GRCh38): 12:31,382,226-31,591,136 (from NCBI)

This gene has 7 transcripts (splice variants), 188 orthologues and 10 paralogues. Broad expression in ovary (RPKM 8.9), testis (RPKM 6.8) and 21 other tissues.

Summary

Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in positive regulation of triglyceride transport and regulation of catalytic activity. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]

DENND5B Products(6)

mRNA Protein Name
NM_001308339.2 NP_001295268.1 DENN domain-containing protein 5B isoform 2
NM_001366890.1 NP_001353819.1 DENN domain-containing protein 5B isoform 3
NM_001366891.1 NP_001353820.1 DENN domain-containing protein 5B isoform 4
NM_001366892.1 NP_001353821.1 DENN domain-containing protein 5B isoform 5
NM_001366893.1 NP_001353822.1 DENN domain-containing protein 5B isoform 6
NM_144973.4 NP_659410.3 DENN domain-containing protein 5B isoform 1
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables guanyl-nucleotide exchange factor activity IDA
IDA: Inferred from direct assay
20937701 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

DENND5B Protein Structure

uDENN

uDENN: uDENN domain (56 - 120)

DENN

DENN: DENN (AEX-3) domain (187 - 375)

dDENN

dDENN: dDENN domain (498 - 574)

RUN

RUN: RUN domain (780 - 924)

PLAT

PLAT: PLAT/LH2 domain (953 - 1043)

RUN

RUN: RUN domain (1127 - 1262)

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  • 1274 a.a.
Protein Preferred Names Protein Names

DENN domain-containing protein 5B

DENN/MADD domain containing 5B

Related Diseases

Diseases Alias
Lissencephaly 8

LIS8

Spinocerebellar Ataxia, Autosomal Recessive 24

SCAR24

Autosomal Recessive Spinocerebellar Ataxia 24

Spinocerebellar Ataxia, Autosomal Recessive, 24

Ataxia, Spinocerebellar, Autosomal Recessive, Type 24

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
Canis familiaris DENND5B VGNC VGNC:39894
Rattus norvegicus DENND5B RGD RGD:2318606
Mus musculus DENND5B MGD MGI:2444273
Macaca mulatta DENND5B VGNC VGNC:71772
Bos taurus DENND5B VGNC VGNC:28002
Felis catus DENND5B VGNC VGNC:61440