MCF2L - MCF.2 cell line derived transforming sequence like Gene

Homo sapiens

Also known as DBS; OST; ARHGEF14

Gene ID: 23263 | Gene type: protein coding

About MCF2L

Cytogenetic location: 13q34 Genomic coordinates (GRCh38): 13:112,894,335-113,099,742 (from NCBI)

This gene has 33 transcripts (splice variants), 263 orthologues and 22 paralogues. Ubiquitous expression in fat (RPKM 8.1), brain (RPKM 8.0) and 22 other tissues.

Summary

This gene encodes a guanine nucleotide exchange factor that interacts specifically with the GTP-bound Rac1 and plays a role in the Rho/Rac signaling pathways. A variant in this gene was associated with osteoarthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

MCF2L Products(8)

mRNA	Protein	Name
NM_001112732.3	NP_001106203.2	guanine nucleotide exchange factor DBS isoform a
NM_001320815.2	NP_001307744.1	guanine nucleotide exchange factor DBS isoform c precursor
NM_001320816.2	NP_001307745.1	guanine nucleotide exchange factor DBS isoform d
NM_001320817.2	NP_001307746.1	guanine nucleotide exchange factor DBS isoform e precursor
NM_001366644.2	NP_001353573.1	guanine nucleotide exchange factor DBS isoform f
NM_001366645.2	NP_001353574.1	guanine nucleotide exchange factor DBS isoform g
NM_001366646.2	NP_001353575.1	guanine nucleotide exchange factor DBS isoform h
NM_024979.4	NP_079255.4	guanine nucleotide exchange factor DBS isoform b precursor

MCF2L Protein Structure

CRAL_TRIO_2

Spectrin

RhoGEF

SH3_2

0
200
400
600
800
1000
1137 a.a.

Protein Preferred Names

Protein Names

guanine nucleotide exchange factor DBS

DBL's big sister

Related Diseases

Diseases

Alias

Osteoarthritis

Osteoarthrosis	Degenerative Joint Disease
Hypertrophic Arthritis	Arthropathy
Degenerative Polyarthritis	Degenerative Arthritis
Osteoarthrosis And Allied Disorder	Arthritis, Degenerative
Oa	Osteoarthritis Deformans
Osteoarthrosis Deformans	Kashin-Beck Disease

Hypoparathyroidism, X-Linked

HYPX	X-Linked Hypoparathyroidism
Parathyroid Glands, Agenesis Of	Agenesis Of Parathyroid Glands
Hypoparathyroidism X-Linked	Hypoparathyroidism - X-Linked

Brain Small Vessel Disease 2

Porencephaly 2	BSVD2
Gould Syndrome 2	Porencephaly 2, Formerly
Poren2, Formerly	Poren2

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-RS08223	MCF2L Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	MCF2L	VGNC	VGNC:31302
Canis familiaris	MCF2L	VGNC	VGNC:43074
Felis catus	MCF2L	VGNC	VGNC:63411
Macaca mulatta	MCF2L	VGNC	VGNC:106270
Rattus norvegicus	MCF2L	RGD	RGD:619782
Mus musculus	MCF2L	MGD	MGI:103263

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