DNMBP - dynamin binding protein Gene

Also Known as TUBA; CTRCT48; ARHGEF36

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23268

About DNMBP

Cytogenetic location: 10q24.2 Genomic coordinates (GRCh38): 10:99,875,571-100,009,947 (from NCBI)

This gene has 4 transcripts (splice variants), 205 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in small intestine (RPKM 10.7), duodenum (RPKM 8.5) and 25 other tissues.

Summary

This gene encodes a protein belonging to the guanine nucleotide exchange factor family, and which regulates the configuration of cell junctions. It contains multiple binding sites for Dynamin and thus links Dynamin to actin regulatory proteins. Polymorphisms in this gene have been linked to Alzheimer's disease in some populations, though there are conflicting reports of such linkages in Other populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

DNMBP Products (3)

mRNA Protein Name
NM_001318326.2 NP_001305255.1 dynamin-binding protein isoform b
NM_001318327.1 NP_001305256.1 dynamin-binding protein isoform c
NM_015221.4 NP_056036.1 dynamin-binding protein isoform a

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables guanyl-nucleotide exchange factor activity IDA
IDA: Inferred from direct assay
17015620 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16413298 GOA
Biological Process GO Annotation Evidence References Source
involved in regulation of cell shape IMP
IMP: Inferred from mutant phenotype
17015620 GOA
Cellular Component GO Annotation Evidence References Source
located in cell-cell junction IDA
IDA: Inferred from direct assay
17015620 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

DNMBP Protein Structure

SH3_1

SH3_1: SH3 domain (8 - 53)

SH3_2

SH3_2: Variant SH3 domain (71 - 123)

SH3_9

SH3_9: Variant SH3 domain (158 - 200)

SH3_1

SH3_1: SH3 domain (249 - 293)

RhoGEF

RhoGEF: RhoGEF domain (788 - 966)

BAR

BAR: BAR domain (998 - 1204)

SH3_9

SH3_9: Variant SH3 domain (1520 - 1571)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1577 a.a.
Protein Preferred Names Protein Names

dynamin-binding protein

  • scaffold protein TUBA

DNMBP Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
DNMBP Q6XZF7 BIN3 Homo sapiens Q9NQY0
Anti Tag CoIP
18654987
Intra
DNMBP Q6XZF7 BIN3 Homo sapiens Q9NQY0
Y2H
18654987
Cross
DNMBP Q6XZF7 Dnm1 Rattus norvegicus P21575
Pull Down
16413298
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Cataract 48

  • CTRCT48
Cataract 44

  • CTRCT44

  • Total Early-Onset Cataract

  • Cataract 44 And Hypotrichosis

  • Cataract And Hypotrichosis

  • Cataract, Type 44
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction

  • VETD

  • Heterozygotes For Tbx2 Variants
Epithelial Recurrent Erosion Dystrophy

  • ERED

  • Corneal Erosions, Recurring Hereditary

  • Col17a1

  • Dystrophia Helsinglandica

  • Dystrophia Smolandiensis

  • Recurrent Hereditary Corneal Erosions

  • Rces

  • Recurrent Corneal Erosion Syndrome

  • Recurrent Erosion Of Cornea
Cataract 18

  • Cataract, Autosomal Recessive Congenital 2

  • Catc2

  • CTRCT18

  • Autosomal Recessive Congenital Cataract 2

  • Cataract 18, Autosomal Recessive

  • Cataract 18 Autosomal Recessive

  • Cataract, Type 18
Facial Neuralgia
Neurilemmoma Of The Fifth Cranial Nerve

  • Trigeminal Schwannoma

  • Trigeminal Neurilemmoma
Trigeminal Nerve Neoplasm

  • Neoplasm Of Trigeminal Nerve

  • Tumor Of Trigeminal Nerve
Renal Glucosuria

  • Renal Glycosuria

  • Familial Renal Glucosuria

  • GLYS

  • Glys1

  • Glycosuria, Renal

  • Glucosuria, Renal

  • Renal Diabetes

  • Familial Renal Glycosuria

  • Sglt2 Deficiency

  • Gly

  • Diabetes Renal
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-RS03907 DNMBP Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta DNMBP VGNC VGNC:106035
Bos taurus DNMBP VGNC VGNC:28144
Canis familiaris DNMBP VGNC VGNC:40035
Rattus norvegicus DNMBP RGD RGD:1583840
Mus musculus DNMBP MGD MGI:1917352
Others DNMBP NCBI