DENND4C - DENN domain containing 4C Gene

Also Known as C9orf55; C9orf55B; RAB10GEF; bA513M16.3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55667

About DENND4C

This gene has 9 transcripts (splice variants), 210 orthologues and 3 paralogues. Ubiquitous expression in duodenum (RPKM 11.5), skin (RPKM 11.0) and 25 other tissues.

Summary

Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in cellular response to Insulin stimulus; protein localization to plasma membrane; and regulation of Rab protein signal transduction. Located in Golgi apparatus and cytosol. [provided by Alliance of Genome Resources, Apr 2022]

DENND4C Products (21)

mRNA Protein Name
NM_001330640.2 NP_001317569.1 DENN domain-containing protein 4C isoform 2
NM_001386026.2 NP_001372955.1 DENN domain-containing protein 4C isoform 5
NM_001386030.1 NP_001372959.1 DENN domain-containing protein 4C isoform 6
NM_001386031.1 NP_001372960.1 DENN domain-containing protein 4C isoform 7
NM_001386032.1 NP_001372961.1 DENN domain-containing protein 4C isoform 4
NM_001386034.1 NP_001372963.1 DENN domain-containing protein 4C isoform 4
NM_001386035.1 NP_001372964.1 DENN domain-containing protein 4C isoform 8
NM_001386036.1 NP_001372965.1 DENN domain-containing protein 4C isoform 9
NM_001386037.1 NP_001372966.1 DENN domain-containing protein 4C isoform 10
NM_001386038.1 NP_001372967.1 DENN domain-containing protein 4C isoform 11
NM_001386039.1 NP_001372968.1 DENN domain-containing protein 4C isoform 12
NM_001386040.1 NP_001372969.1 DENN domain-containing protein 4C isoform 13
NM_001386041.1 NP_001372970.1 DENN domain-containing protein 4C isoform 14
NM_001386042.1 NP_001372971.1 DENN domain-containing protein 4C isoform 15
NM_001386043.1 NP_001372972.1 DENN domain-containing protein 4C isoform 3
NM_001386044.1 NP_001372973.1 DENN domain-containing protein 4C isoform 3
NM_001386045.1 NP_001372974.1 DENN domain-containing protein 4C isoform 16
NM_001386046.1 NP_001372975.1 DENN domain-containing protein 4C isoform 17
NM_001386047.1 NP_001372976.1 DENN domain-containing protein 4C isoform 2
NM_001386048.1 NP_001372977.1 DENN domain-containing protein 4C isoform 3
NM_017925.7 NP_060395.5 DENN domain-containing protein 4C isoform 1
Molecular Function GO Annotation Evidence References 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

DENND4C Protein Structure

uDENN

uDENN: uDENN domain (210 - 276)

DENN

DENN: DENN (AEX-3) domain (309 - 492)

dDENN

dDENN: dDENN domain (559 - 632)

  • 0
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  • 1200
  • 1500
  • 1800
  • 1909 a.a.
Protein Preferred Names Protein Names

DENN domain-containing protein 4C

  • DENN/MADD domain containing 4A pseudogene

Related Diseases

Diseases Alias
Alkuraya-Kucinskas Syndrome
  • ALKKUCS

  • Kiaa1109-Related Early Lethal Congenital Brain Malformations-Arthrogryposis Syndrome

  • Arthrogryposis

Spastic Paraplegia 39, Autosomal Recessive
  • SPG39

  • Ntemnd

  • Hereditary Spastic Paraplegia 39

  • Nte-Related Motor Neuron Disorder

  • Autosomal Recessive Spastic Paraplegia Type 39

  • Spastic Paraplegia Due To Neuropathy Target Esterase Mutation

  • Spastic Paraplegia Due To Nte Mutation

  • Spastic Paraplegia 39

  • Autosomal Recessive Spastic Paraplegia 39

  • Nte Related Motor Neuron Disorder

  • Paraplegia, Spastic, Type 39

Lissencephaly 8
  • LIS8

Early Infantile Epileptic Encephalopathy
  • Early Infantile Epileptic Encephalopathy With Burst-Suppression

  • Early Infantile Epileptic Encephalopathy With Suppression Bursts

  • Eiee

  • Early Infantile Epileptic Encephalopathy With Suppression-Bursts

  • Ohtahara Syndrome

  • Encephalopathy, Epileptic, Early Infantile

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 DENND4C VGNC VGNC:71715
Felis catus DENND4C VGNC VGNC:61438
Rattus norvegicus DENND4C RGD RGD:1308489
Bos taurus DENND4C VGNC VGNC:28001
Mus musculus DENND4C MGD MGI:1914769
Canis familiaris DENND4C VGNC VGNC:39892