DNMBP - dynamin binding protein Gene

Homo sapiens

Also known as TUBA; CTRCT48; ARHGEF36

Gene ID: 23268 | Gene type: protein coding

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

DNMBP Protein Structure

SH3_1

SH3_2

SH3_9

SH3_1

RhoGEF

BAR

SH3_9

0
300
600
900
1200
1577 a.a.

Protein Preferred Names

Protein Names

dynamin-binding protein

scaffold protein TUBA

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03907	DNMBP Human Pre-designed siRNA Set A		/	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

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