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  2. DENND4A - DENN domain containing 4A Gene

DENND4A - DENN domain containing 4A Gene

Homo sapiens

Also known as IRLB; MYCPBP

Gene ID: 10260 | Gene type: protein coding

About DENND4A

Cytogenetic location: 15q22.31 Genomic coordinates (GRCh38): 15:65,659,123-65,792,293 (from NCBI)

This gene has 9 transcripts (splice variants), 201 orthologues and 3 paralogues. Ubiquitous expression in bone marrow (RPKM 7.2), lymph node (RPKM 6.2) and 25 other tissues.

Summary

This gene encodes a DENN domain-containing protein that may function as a guanine nucleotide exchange factor that specifically activates ras-related protein Rab-10. This protein also contains a interferon stimulated response element-binding domain and may be involved in regulating the v-myc avian myelocytomatosis viral (MYC) oncogene. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8. [provided by RefSeq, Mar 2016]

DENND4A Products(5)

mRNA Protein Name
NM_001144823.2 NP_001138295.1 C-myc promoter-binding protein isoform 1
NM_001320835.1 NP_001307764.1 C-myc promoter-binding protein isoform 3
NM_001376919.1 NP_001363848.1 C-myc promoter-binding protein isoform 2
NM_001376920.1 NP_001363849.1 C-myc promoter-binding protein isoform 2
NM_005848.4 NP_005839.3 C-myc promoter-binding protein isoform 2

DENND4A Protein Structure

uDENN

uDENN: uDENN domain (212 - 276)

DENN

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

dDENN

dDENN: dDENN domain (559 - 632)

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  • 1863 a.a.
Protein Preferred Names Protein Names

C-myc promoter-binding protein

DENN domain-containing protein 4A

Related Diseases

Diseases Alias
Trichohepatoenteric Syndrome 1

Trichohepatoenteric Syndrome

Syndromic Diarrhea

Tricho-Hepato-Enteric Syndrome

Sd/The

Syndromic Diarrhea/Tricho-Hepato-Enteric Syndrome

THES1

Phenotypic Diarrhea

Thes

Phenotypic Diarrhea Of Infancy

Diarrhea, Syndromic

Diarrhea, Fatal Infantile, With Trichorrhexis Nodosa

Intractable Diarrhea With Phenotypic Anomalies

Syndromatic Diarrhea

Fatal Infantile Diarrhea With Trichorrhexis Nodosa

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

Folic Acid Deficiency Anemia

Folate Deficiency Anaemia

Folic Acid Deficiency Anaemia

Folate Deficiency Anemia

Folate-Deficiency Anaemia

Folate-Deficiency Anemia

Folate-Deficient Megaloblastic Anaemia

Megaloblastic Anemia Due To Folate Deficiency

Anaemia Of Folate Deficiency

Folate Or Folic Acid Deficiency Anaemia Nos

Folic Acid Deficiency Anaemia Nos

Acquired Megaloblastic Anaemia Due To Nutritional Folate Deficiency

Dietary Folic Acid Deficiency Anaemia

Dietary Folate Deficiency Anaemia

Folate Deficiency Anaemia Due To Dietary Causes

Goat'S Milk Anaemia

Acquired Megaloblastic Anaemia Due To Folate Deficiency Secondary To Increased Requirement

Megaloblastic Anaemia Due To Increased Requirements Of Folate

Acquired Megaloblastic Anaemia Due To Folate Deficiency Secondary To Intestinal Disorders

Acquired Megaloblastic Anaemia Due To Decreased Intestinal Absorption Of Folate

Megaloblastic Anaemia Due To Decreased Intestinal Absorption Of Folate

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 DENND4A VGNC VGNC:39890
Felis catus DENND4A VGNC VGNC:61437
Mus musculus DENND4A MGD MGI:2142979
Bos taurus DENND4A VGNC VGNC:27999
Macaca mulatta DENND4A VGNC VGNC:71697
Rattus norvegicus DENND4A RGD RGD:1562639