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Protein

Probable guanine nucleotide exchange factor MCF2L2

Gene

MCF2L2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

Probably functions as a guanine nucleotide exchange factor.By similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Guanine-nucleotide releasing factor

Names & Taxonomyi

Protein namesi
Recommended name:
Probable guanine nucleotide exchange factor MCF2L2
Alternative name(s):
Dbs-related Rho family guanine nucleotide exchange factor
MCF2-transforming sequence-like protein 2
Gene namesi
Name:MCF2L2
Synonyms:DRG, KIAA0861
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:30319. MCF2L2.

Pathology & Biotechi

Involvement in diseasei

Diabetes mellitus, non-insulin-dependent (NIDDM)1 Publication
Disease susceptibility may be associated with variations affecting the gene represented in this entry.
Disease descriptionA multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
See also OMIM:125853

Keywords - Diseasei

Diabetes mellitus

Organism-specific databases

DisGeNETi23101.
MIMi125853. phenotype.
OpenTargetsiENSG00000053524.
PharmGKBiPA134863801.

Polymorphism and mutation databases

DMDMi317373423.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003370871 – 1114Probable guanine nucleotide exchange factor MCF2L2Add BLAST1114

Proteomic databases

PaxDbiQ86YR7.
PRIDEiQ86YR7.

PTM databases

iPTMnetiQ86YR7.
PhosphoSitePlusiQ86YR7.

Expressioni

Tissue specificityi

Significantly expressed in brain and modestly in pancreas, brain and testis.1 Publication

Gene expression databases

BgeeiENSG00000053524.
CleanExiHS_MCF2L2.
ExpressionAtlasiQ86YR7. baseline and differential.
GenevisibleiQ86YR7. HS.

Organism-specific databases

HPAiHPA038946.
HPA038947.

Interactioni

Protein-protein interaction databases

BioGridi116728. 4 interactors.
IntActiQ86YR7. 3 interactors.
STRINGi9606.ENSP00000328118.

Structurei

3D structure databases

ProteinModelPortaliQ86YR7.
SMRiQ86YR7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini11 – 193CRAL-TRIOPROSITE-ProRule annotationAdd BLAST183
Repeati323 – 428SpectrinAdd BLAST106
Domaini619 – 822DHPROSITE-ProRule annotationAdd BLAST204
Domaini834 – 954PHPROSITE-ProRule annotationAdd BLAST121

Sequence similaritiesi

Belongs to the MCF2 family.Curated
Contains 1 CRAL-TRIO domain.PROSITE-ProRule annotation
Contains 1 DH (DBL-homology) domain.PROSITE-ProRule annotation
Contains 1 PH domain.PROSITE-ProRule annotation
Contains 1 spectrin repeat.Curated

Phylogenomic databases

eggNOGiKOG4240. Eukaryota.
ENOG410XPCA. LUCA.
GeneTreeiENSGT00760000119030.
HOGENOMiHOG000231361.
HOVERGENiHBG062385.
InParanoidiQ86YR7.
KOiK20685.
OMAiRPRCVEL.
OrthoDBiEOG091G04A2.
PhylomeDBiQ86YR7.
TreeFamiTF318080.

Family and domain databases

Gene3Di1.20.900.10. 1 hit.
2.30.29.30. 1 hit.
3.40.525.10. 1 hit.
InterProiIPR001251. CRAL-TRIO_dom.
IPR000219. DH-domain.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
IPR018159. Spectrin/alpha-actinin.
[Graphical view]
PfamiPF13716. CRAL_TRIO_2. 1 hit.
PF00621. RhoGEF. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
SM00325. RhoGEF. 1 hit.
SM00516. SEC14. 1 hit.
SM00150. SPEC. 1 hit.
[Graphical view]
SUPFAMiSSF48065. SSF48065. 1 hit.
SSF50729. SSF50729. 1 hit.
SSF52087. SSF52087. 1 hit.
PROSITEiPS50191. CRAL_TRIO. 1 hit.
PS50010. DH_2. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q86YR7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MLSCLKEEMP PQELTRRLAT VITHVDEIMQ QEVRPLMAVE IIEQLHRQFA
60 70 80 90 100
ILSGGRGEDG APIITFPEFS GFKHIPDEDF LNVMTYLTSI PSVEAASIGF
110 120 130 140 150
IVVIDRRRDK WSSVKASLTR IAVAFPGNLQ LIFILRPSRF IQRTFTDIGI
160 170 180 190 200
KYYRNEFKTK VPIIMVNSVS DLHGYIDKSQ LTRELGGTLE YRHGQWVNHR
210 220 230 240 250
TAIENFALTL KTTAQMLQTF GSCLATAELP RSMLSTEDLL MSHTRQRDKL
260 270 280 290 300
QDELKLLGKQ GTTLLSCIQE PATKCPNSKL NLNQLENVTT MERLLVQLDE
310 320 330 340 350
TEKAFSHFWS EHHLKLNQCL QLQHFEHDFC KAKLALDNLL EEQAEFTGIG
360 370 380 390 400
DSVMHVEQIL KEHKKLEEKS QEPLEKAQLL ALVGDQLIQS HHYAADAIRP
410 420 430 440 450
RCVELRHLCD DFINGNKKKW DILGKSLEFH RQLDKVSQWC EAGIYLLASQ
460 470 480 490 500
AVDKCQSREG VDIALNDIAT FLGTVKEYPL LSPKEFYNEF ELLLTLDAKA
510 520 530 540 550
KAQKVLQRLD DVQEIFHKRQ VSLMKLAAKQ TRPVQPVAPH PESSPKWVSS
560 570 580 590 600
KTSQPSTSVP LARPLRTSEE PYTETELNSR GKEDDETKFE VKSEEIFESH
610 620 630 640 650
HERGNPELEQ QARLGDLSPR RRIIRDLLET EEIYIKEIKS IIDGYITPMD
660 670 680 690 700
FIWLKHLIPD VLQNNKDFLF GNIRELYEFH NRTFLKELEK CAENPELLAH
710 720 730 740 750
CFLKRKEDLQ IYFKYHKNLP RARAIWQECQ DCAYFGVCQR QLDHNLPLFK
760 770 780 790 800
YLKGPSQRLI KYQMLLKGLL DFESPEDMEI DPGELGGSAK DGPKRTKDSA
810 820 830 840 850
FSTELQQALA VIEDLIKSCE LAVDLAAVTE CPDDIGKLGK LLLHGPFSVW
860 870 880 890 900
TIHKDRYKMK DLIRFKPSQR QIYLFERGIV FCKIRMEPGD QGLSPHYSFK
910 920 930 940 950
KTMKLMTLSI RQLGRGSHRK FEIASRNGLE KYILQAASKE IRDCWFSEIS
960 970 980 990 1000
KLLMEQQNNI KDQGNPQFEM STSKGSGAGS GPWIKNMERA TTSKEDPASS
1010 1020 1030 1040 1050
TGGIKGCSSR EFSSMDTFED CEGAEDMEKE SSALSLAGLF QSDDSHETCS
1060 1070 1080 1090 1100
SKSAFLERGE SSQGEKEERD EEETATRSTE EERAGASTGR LAPAGATAGF
1110
QARALRPRTS AQES
Length:1,114
Mass (Da):126,993
Last modified:January 11, 2011 - v3
Checksum:iCB1F04EC485C746D
GO
Isoform 2 (identifier: Q86YR7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     706-711: KEDLQI → VSLYSQ
     712-1114: Missing.

Show »
Length:711
Mass (Da):81,877
Checksum:iF3B6D2AB120CBB46
GO
Isoform 3 (identifier: Q86YR7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     622-628: RIIRDLL → YSSQYFK
     629-1114: Missing.

Note: No experimental confirmation available.
Show »
Length:628
Mass (Da):71,912
Checksum:i1BA4CEC31B366D69
GO
Isoform 4 (identifier: Q86YR7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1075-1114: Missing.

Show »
Length:1,074
Mass (Da):122,922
Checksum:iCF969FBCF6C4EC7D
GO

Sequence cautioni

The sequence AAO19651 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti373P → S in AAO19651 (Ref. 4) Curated1
Sequence conflicti373P → S in BAA74884 (PubMed:10048485).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_043587159T → M.1 PublicationCorresponds to variant rs12632177dbSNPEnsembl.1
Natural variantiVAR_043588254L → P in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_043589277N → S.Corresponds to variant rs13082605dbSNPEnsembl.1
Natural variantiVAR_043590359I → L.1 PublicationCorresponds to variant rs7639705dbSNPEnsembl.1
Natural variantiVAR_043591378Q → L.1 PublicationCorresponds to variant rs2293203dbSNPEnsembl.1
Natural variantiVAR_043592589F → S.1 PublicationCorresponds to variant rs3732602dbSNPEnsembl.1
Natural variantiVAR_043593622R → H in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant rs767614039dbSNPEnsembl.1
Natural variantiVAR_043594772F → L.Corresponds to variant rs9826325dbSNPEnsembl.1
Natural variantiVAR_043595902T → A.3 PublicationsCorresponds to variant rs6804951dbSNPEnsembl.1
Natural variantiVAR_0435961015M → T.Corresponds to variant rs35070271dbSNPEnsembl.1
Natural variantiVAR_0435971039L → F in a breast cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_033872622 – 628RIIRDLL → YSSQYFK in isoform 3. 1 Publication7
Alternative sequenceiVSP_033873629 – 1114Missing in isoform 3. 1 PublicationAdd BLAST486
Alternative sequenceiVSP_033874706 – 711KEDLQI → VSLYSQ in isoform 2. 1 Publication6
Alternative sequenceiVSP_033875712 – 1114Missing in isoform 2. 1 PublicationAdd BLAST403
Alternative sequenceiVSP_0338761075 – 1114Missing in isoform 4. 1 PublicationAdd BLAST40

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK124500 mRNA. Translation: BAC85866.1.
AC069417 Genomic DNA. No translation available.
AC092960 Genomic DNA. No translation available.
AC104641 Genomic DNA. No translation available.
AC112647 Genomic DNA. No translation available.
BC029074 mRNA. Translation: AAH29074.2.
BC064632 mRNA. Translation: AAH64632.1.
AY172737 mRNA. Translation: AAO19651.1. Different initiation.
AB020668 mRNA. Translation: BAA74884.1.
CCDSiCCDS3243.1. [Q86YR7-1]
RefSeqiNP_055893.3. NM_015078.3.
UniGeneiHs.208267.

Genome annotation databases

EnsembliENST00000328913; ENSP00000328118; ENSG00000053524. [Q86YR7-1]
ENST00000414362; ENSP00000414131; ENSG00000053524. [Q86YR7-3]
ENST00000447025; ENSP00000388190; ENSG00000053524. [Q86YR7-2]
ENST00000473233; ENSP00000420070; ENSG00000053524. [Q86YR7-4]
GeneIDi23101.
KEGGihsa:23101.
UCSCiuc003fli.3. human. [Q86YR7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK124500 mRNA. Translation: BAC85866.1.
AC069417 Genomic DNA. No translation available.
AC092960 Genomic DNA. No translation available.
AC104641 Genomic DNA. No translation available.
AC112647 Genomic DNA. No translation available.
BC029074 mRNA. Translation: AAH29074.2.
BC064632 mRNA. Translation: AAH64632.1.
AY172737 mRNA. Translation: AAO19651.1. Different initiation.
AB020668 mRNA. Translation: BAA74884.1.
CCDSiCCDS3243.1. [Q86YR7-1]
RefSeqiNP_055893.3. NM_015078.3.
UniGeneiHs.208267.

3D structure databases

ProteinModelPortaliQ86YR7.
SMRiQ86YR7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116728. 4 interactors.
IntActiQ86YR7. 3 interactors.
STRINGi9606.ENSP00000328118.

PTM databases

iPTMnetiQ86YR7.
PhosphoSitePlusiQ86YR7.

Polymorphism and mutation databases

DMDMi317373423.

Proteomic databases

PaxDbiQ86YR7.
PRIDEiQ86YR7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000328913; ENSP00000328118; ENSG00000053524. [Q86YR7-1]
ENST00000414362; ENSP00000414131; ENSG00000053524. [Q86YR7-3]
ENST00000447025; ENSP00000388190; ENSG00000053524. [Q86YR7-2]
ENST00000473233; ENSP00000420070; ENSG00000053524. [Q86YR7-4]
GeneIDi23101.
KEGGihsa:23101.
UCSCiuc003fli.3. human. [Q86YR7-1]

Organism-specific databases

CTDi23101.
DisGeNETi23101.
GeneCardsiMCF2L2.
HGNCiHGNC:30319. MCF2L2.
HPAiHPA038946.
HPA038947.
MIMi125853. phenotype.
neXtProtiNX_Q86YR7.
OpenTargetsiENSG00000053524.
PharmGKBiPA134863801.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4240. Eukaryota.
ENOG410XPCA. LUCA.
GeneTreeiENSGT00760000119030.
HOGENOMiHOG000231361.
HOVERGENiHBG062385.
InParanoidiQ86YR7.
KOiK20685.
OMAiRPRCVEL.
OrthoDBiEOG091G04A2.
PhylomeDBiQ86YR7.
TreeFamiTF318080.

Miscellaneous databases

ChiTaRSiMCF2L2. human.
GenomeRNAii23101.
PROiQ86YR7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000053524.
CleanExiHS_MCF2L2.
ExpressionAtlasiQ86YR7. baseline and differential.
GenevisibleiQ86YR7. HS.

Family and domain databases

Gene3Di1.20.900.10. 1 hit.
2.30.29.30. 1 hit.
3.40.525.10. 1 hit.
InterProiIPR001251. CRAL-TRIO_dom.
IPR000219. DH-domain.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
IPR018159. Spectrin/alpha-actinin.
[Graphical view]
PfamiPF13716. CRAL_TRIO_2. 1 hit.
PF00621. RhoGEF. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
SM00325. RhoGEF. 1 hit.
SM00516. SEC14. 1 hit.
SM00150. SPEC. 1 hit.
[Graphical view]
SUPFAMiSSF48065. SSF48065. 1 hit.
SSF50729. SSF50729. 1 hit.
SSF52087. SSF52087. 1 hit.
PROSITEiPS50191. CRAL_TRIO. 1 hit.
PS50010. DH_2. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMF2L2_HUMAN
AccessioniPrimary (citable) accession number: Q86YR7
Secondary accession number(s): O94942
, Q6P2B8, Q6ZVJ5, Q8N318
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: January 11, 2011
Last modified: November 30, 2016
This is version 109 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.