MCF2 MCF.2 cell line derived transforming sequence [Homo sapiens (human)] - Gene

Summary

Official Symbol: MCF2provided by HGNC
Official Full Name: MCF.2 cell line derived transforming sequenceprovided by HGNC
Primary source: HGNC:HGNC:6940
See related: Ensembl:ENSG00000101977 MIM:311030; AllianceGenome:HGNC:6940
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DBL; ARHGEF21
Summary: The oncogenic protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that exerts control over some members of the Rho family of small GTPases. Several transcript variants encoding different isoforms have been found for this gene. These isoforms exhibit different expression patterns and varying levels of GEF activity.[provided by RefSeq, Jan 2010]
Expression: Biased expression in adrenal (RPKM 10.3), testis (RPKM 7.9) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq27.1

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (139581770..139708167, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (137890836..138020159, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (138663929..138790326, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

we elucidate a mechanism through which the DBL family members MCF2 and VAV1 act to drive drug resistance in human BRAFV600E-mutant melanoma cells
Title: Src-Dependent DBL Family Members Drive Resistance to Vemurafenib in Human Melanoma.
Results support a role for Dbl oncogene in mammary epithelial cell differentiation and transformation and suggest the relevance of GEF deregulation in tumor onset and progression.
Title: Dbl oncogene expression in MCF-10 A epithelial cells disrupts mammary acinar architecture, induces EMT and angiogenic factor secretion.
Phosphoinositide 3-kinase C2beta regulates RhoA and the actin cytoskeleton through an interaction with Dbl
Title: Phosphoinositide 3-kinase C2β regulates RhoA and the actin cytoskeleton through an interaction with Dbl.
Dbl is regulated by hamartin through association with ezrin.
Title: The tumor suppressor hamartin enhances Dbl protein transforming activity through interaction with ezrin.
proto-oncogene dbl is not a major target for sporadic testicular germ cell tumors
Title: Mutational analysis of proto-oncogene Dbl on Xq27 in testicular germ cell tumors reveals a rare SNP in a patient with bilateral undescended testis.
Observational study of gene-disease association. (HuGE Navigator)
Title: Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
Nm23-H1 can negatively regulate cell migration and tumor metastasis by modulating the activity of Cdc42 and possibly other Rho family members through interaction with Dbl-1
Title: The suppressor of metastasis Nm23-H1 interacts with the Cdc42 Rho family member and the pleckstrin homology domain of oncoprotein Dbl-1 to suppress cell migration.
Galphaq directly activates p63RhoGEF and Trio via a conserved extension of the Dbl homology-associated pleckstrin homology domain
Title: Galphaq directly activates p63RhoGEF and Trio via a conserved extension of the Dbl homology-associated pleckstrin homology domain.
These data suggest a mechanism whereby precise spatial guanine nucleotide exchange of Cdc42 by Dbl is dependent on functional ERM proteins and is important for directional cell migration.
Title: Activated ezrin promotes cell migration through recruitment of the GEF Dbl to lipid rafts and preferential downstream activation of Cdc42.
data describe 4 splicing variants of the human DBL (MCF-2) proto-oncogene that show different tissue distributions and guanine nucleotide exchange factor specificities
Title: Alternative splicing variants of the human DBL (MCF-2) proto-oncogene.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-X12556 (e-PCR)
- UniSTS:35848

AL032612 (e-PCR)
- UniSTS:93221

AL032592 (e-PCR)
- UniSTS:93274

WI-14785 (e-PCR)
- UniSTS:83415

DXS9752 (e-PCR)
- UniSTS:82913

NoName (e-PCR)
- UniSTS:99307

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables guanyl-nucleotide exchange factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables guanyl-nucleotide exchange factor activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to leukemia inhibitory factor	IEA Inferred from Electronic Annotation more info
involved_in dendrite development	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular signal transduction	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of axonogenesis	TAS Traceable Author Statement more info
involved_in regulation of small GTPase mediated signal transduction	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoskeleton	TAS Traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
is_active_in extrinsic component of membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: proto-oncogene DBL

Names: Oncogene MCF2 (oncogene DBL); proto-oncogene MCF-2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016439.2 RefSeqGene

Range

5000..131397

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001099855.2 → NP_001093325.1 proto-oncogene DBL isoform a

See identical proteins and their annotated locations for NP_001093325.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) lacks an alternate in-frame exon compared to variant 3. The resulting isoform (a) has the same N- and C-termini but is shorter compared to isoform c.

Source sequence(s)

AL033403, AL117234, DC298193

Consensus CDS

CCDS48175.1

UniProtKB/TrEMBL

A0A2X0SZ10

Related

ENSP00000397055.1, ENST00000414978.5

Conserved Domains (5) summary

smart00516
Location:5 → 145

SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)

cd00160
Location:556 → 733

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd00176
Location:285 → 476

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00169
Location:783 → 868

PH; PH domain

cl17171
Location:740 → 871

PH-like; Pleckstrin homology-like domain
NM_001171876.2 → NP_001165347.1 proto-oncogene DBL isoform c

See identical proteins and their annotated locations for NP_001165347.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (c).

Source sequence(s)

AK316416, AL033403, AL117234, DC298193

Consensus CDS

CCDS55517.1

UniProtKB/TrEMBL

A0A2X0SZ10

Related

ENSP00000430276.1, ENST00000519895.6

Conserved Domains (5) summary

smart00516
Location:5 → 145

SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)

cd00160
Location:572 → 749

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd00176
Location:285 → 476

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00169
Location:799 → 884

PH; PH domain

cl17171
Location:756 → 887

PH-like; Pleckstrin homology-like domain
NM_001171877.2 → NP_001165348.1 proto-oncogene DBL isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence and lacks several exons compared to variant 3. The resulting isoform (d) has shorter and distinct N- and C-termini and lacks two segments compared to isoform c.

Source sequence(s)

AL033403

Consensus CDS

CCDS55514.1

UniProtKB/TrEMBL

B2R9S6

Related

ENSP00000438155.1, ENST00000536274.5

Conserved Domains (5) summary

cd00160
Location:457 → 634

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd00176
Location:186 → 377

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00169
Location:684 → 769

PH; PH domain

pfam13716
Location:2 → 91

CRAL_TRIO_2; Divergent CRAL/TRIO domain

cl17171
Location:641 → 772

PH-like; Pleckstrin homology-like domain
NM_001171878.2 → NP_001165349.1 proto-oncogene DBL isoform e

See identical proteins and their annotated locations for NP_001165349.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence and lacks several exons compared to variant 3. The resulting isoform (e) has shorter and distinct N- and C-termini and lacks a segment compared to isoform c.

Source sequence(s)

AL033403

Consensus CDS

CCDS55515.1

UniProtKB/TrEMBL

B2R9S6

Related

ENSP00000359605.4, ENST00000370573.8

Conserved Domains (5) summary

cd00160
Location:496 → 673

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd00176
Location:225 → 416

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00169
Location:723 → 808

PH; PH domain

cl15787
Location:20 → 85

SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...

cl17171
Location:680 → 811

PH-like; Pleckstrin homology-like domain
NM_001171879.2 → NP_001165350.1 proto-oncogene DBL isoform f

See identical proteins and their annotated locations for NP_001165350.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence compared to variant 3. The resulting isoform (f) has a shorter and distinct N-terminus compared to isoform c.

Source sequence(s)

AL033403

Consensus CDS

CCDS55516.1

UniProtKB/TrEMBL

B2R9S6

Related

ENSP00000342204.6, ENST00000338585.6

Conserved Domains (5) summary

cd00160
Location:512 → 689

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd00176
Location:225 → 416

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00169
Location:739 → 824

PH; PH domain

cl15787
Location:20 → 85

SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...

cl17171
Location:696 → 827

PH-like; Pleckstrin homology-like domain
NM_005369.6 → NP_005360.3 proto-oncogene DBL isoform b

See identical proteins and their annotated locations for NP_005360.3

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 3. The resulting isoform (b) lacks an internal segment and has a shorter and distinct N-terminus compared to isoform c.

Source sequence(s)

AL033403

Consensus CDS

CCDS14667.1

UniProtKB/Swiss-Prot

B7Z3Y5, B7Z869, B7ZAV1, E9PH77, F5H091, P10911, P14919, Q5JYJ2, Q5JYJ3, Q5JYJ4, Q8IUF3, Q8IUF4, Q9UJB3

UniProtKB/TrEMBL

B2R9S6

Related

ENSP00000359608.4, ENST00000370576.9

Conserved Domains (5) summary

cd00160
Location:496 → 673

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd00176
Location:225 → 416

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00169
Location:723 → 808

PH; PH domain

cl15787
Location:20 → 85

SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...

cl17171
Location:680 → 811

PH-like; Pleckstrin homology-like domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

139581770..139708167 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047442112.1 → XP_047298068.1 proto-oncogene DBL isoform X5
XM_005262413.5 → XP_005262470.1 proto-oncogene DBL isoform X1

UniProtKB/TrEMBL

A0A2U3TZL4

Related

ENSP00000427745.2, ENST00000520602.6

Conserved Domains (5) summary

smart00516
Location:48 → 188

SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)

cd00160
Location:615 → 792

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd00176
Location:328 → 519

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00169
Location:842 → 927

PH; PH domain

cl17171
Location:799 → 930

PH-like; Pleckstrin homology-like domain
XM_017029529.2 → XP_016885018.1 proto-oncogene DBL isoform X2

UniProtKB/TrEMBL

A0A2U3TZL4

Conserved Domains (5) summary

smart00516
Location:48 → 188

SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)

cd00160
Location:615 → 792

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd00176
Location:328 → 519

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00169
Location:842 → 927

PH; PH domain

cl17171
Location:799 → 930

PH-like; Pleckstrin homology-like domain
XM_011531339.3 → XP_011529641.1 proto-oncogene DBL isoform X4

See identical proteins and their annotated locations for XP_011529641.1

UniProtKB/TrEMBL

A0A2X0SZ10

Conserved Domains (5) summary

smart00516
Location:5 → 145

SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)

cd00160
Location:572 → 749

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd00176
Location:285 → 476

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00169
Location:799 → 884

PH; PH domain

cl17171
Location:756 → 887

PH-like; Pleckstrin homology-like domain
XM_047442111.1 → XP_047298067.1 proto-oncogene DBL isoform X3
XM_017029531.2 → XP_016885020.1 proto-oncogene DBL isoform X4

UniProtKB/TrEMBL

A0A2X0SZ10

Conserved Domains (5) summary

smart00516
Location:5 → 145

SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)

cd00160
Location:572 → 749

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd00176
Location:285 → 476

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00169
Location:799 → 884

PH; PH domain

cl17171
Location:756 → 887

PH-like; Pleckstrin homology-like domain
XM_047442113.1 → XP_047298069.1 proto-oncogene DBL isoform X7
XM_017029532.3 → XP_016885021.1 proto-oncogene DBL isoform X6

UniProtKB/TrEMBL

B2R9S6
XM_047442114.1 → XP_047298070.1 proto-oncogene DBL isoform X8

Related

ENSP00000405848.1, ENST00000446225.5