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Q86YR7 (MF2L2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 92. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:MCF2L2
Synonyms:DRG, KIAA0861
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1114 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Probably functions as a guanine nucleotide exchange factor By similarity.

Tissue specificity

Significantly expressed in brain and modestly in pancreas, brain and testis. Ref.6

Involvement in disease

Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A 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.
Note: Disease susceptibility may be associated with variations affecting the gene represented in this entry.

Sequence similarities

Belongs to the MCF2 family.

Contains 1 CRAL-TRIO domain.

Contains 1 DH (DBL-homology) domain.

Contains 1 PH domain.

Contains 1 spectrin repeat.

Sequence caution

The sequence AAO19651.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDiabetes mellitus
   Molecular functionGuanine-nucleotide releasing factor
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Molecular_functionRho guanyl-nucleotide exchange factor activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q86YR7-1)

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.
Isoform 2 (identifier: Q86YR7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     706-711: KEDLQI → VSLYSQ
     712-1114: Missing.
Isoform 3 (identifier: Q86YR7-3)

The sequence of this isoform differs from the canonical sequence as follows:
     622-628: RIIRDLL → YSSQYFK
     629-1114: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q86YR7-4)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 11141114Probable guanine nucleotide exchange factor MCF2L2
PRO_0000337087

Regions

Domain11 – 193183CRAL-TRIO
Repeat323 – 428106Spectrin
Domain619 – 822204DH
Domain834 – 954121PH

Natural variations

Alternative sequence622 – 6287RIIRDLL → YSSQYFK in isoform 3.
VSP_033872
Alternative sequence629 – 1114486Missing in isoform 3.
VSP_033873
Alternative sequence706 – 7116KEDLQI → VSLYSQ in isoform 2.
VSP_033874
Alternative sequence712 – 1114403Missing in isoform 2.
VSP_033875
Alternative sequence1075 – 111440Missing in isoform 4.
VSP_033876
Natural variant1591T → M. Ref.5
Corresponds to variant rs12632177 [ dbSNP | Ensembl ].
VAR_043587
Natural variant2541L → P in a colorectal cancer sample; somatic mutation. Ref.7
VAR_043588
Natural variant2771N → S.
Corresponds to variant rs13082605 [ dbSNP | Ensembl ].
VAR_043589
Natural variant3591I → L. Ref.1
Corresponds to variant rs7639705 [ dbSNP | Ensembl ].
VAR_043590
Natural variant3781Q → L. Ref.3
Corresponds to variant rs2293203 [ dbSNP | Ensembl ].
VAR_043591
Natural variant5891F → S. Ref.3
Corresponds to variant rs3732602 [ dbSNP | Ensembl ].
VAR_043592
Natural variant6221R → H in a colorectal cancer sample; somatic mutation. Ref.7
VAR_043593
Natural variant7721F → L.
Corresponds to variant rs9826325 [ dbSNP | Ensembl ].
VAR_043594
Natural variant9021T → A. Ref.3 Ref.4 Ref.5
Corresponds to variant rs6804951 [ dbSNP | Ensembl ].
VAR_043595
Natural variant10151M → T.
Corresponds to variant rs35070271 [ dbSNP | Ensembl ].
VAR_043596
Natural variant10391L → F in a breast cancer sample; somatic mutation. Ref.7
VAR_043597

Experimental info

Sequence conflict3731P → S in AAO19651. Ref.4
Sequence conflict3731P → S in BAA74884. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 11, 2011. Version 3.
Checksum: CB1F04EC485C746D

FASTA1,114126,993
        10         20         30         40         50         60 
MLSCLKEEMP PQELTRRLAT VITHVDEIMQ QEVRPLMAVE IIEQLHRQFA ILSGGRGEDG 

        70         80         90        100        110        120 
APIITFPEFS GFKHIPDEDF LNVMTYLTSI PSVEAASIGF IVVIDRRRDK WSSVKASLTR 

       130        140        150        160        170        180 
IAVAFPGNLQ LIFILRPSRF IQRTFTDIGI KYYRNEFKTK VPIIMVNSVS DLHGYIDKSQ 

       190        200        210        220        230        240 
LTRELGGTLE YRHGQWVNHR TAIENFALTL KTTAQMLQTF GSCLATAELP RSMLSTEDLL 

       250        260        270        280        290        300 
MSHTRQRDKL QDELKLLGKQ GTTLLSCIQE PATKCPNSKL NLNQLENVTT MERLLVQLDE 

       310        320        330        340        350        360 
TEKAFSHFWS EHHLKLNQCL QLQHFEHDFC KAKLALDNLL EEQAEFTGIG DSVMHVEQIL 

       370        380        390        400        410        420 
KEHKKLEEKS QEPLEKAQLL ALVGDQLIQS HHYAADAIRP RCVELRHLCD DFINGNKKKW 

       430        440        450        460        470        480 
DILGKSLEFH RQLDKVSQWC EAGIYLLASQ AVDKCQSREG VDIALNDIAT FLGTVKEYPL 

       490        500        510        520        530        540 
LSPKEFYNEF ELLLTLDAKA KAQKVLQRLD DVQEIFHKRQ VSLMKLAAKQ TRPVQPVAPH 

       550        560        570        580        590        600 
PESSPKWVSS KTSQPSTSVP LARPLRTSEE PYTETELNSR GKEDDETKFE VKSEEIFESH 

       610        620        630        640        650        660 
HERGNPELEQ QARLGDLSPR RRIIRDLLET EEIYIKEIKS IIDGYITPMD FIWLKHLIPD 

       670        680        690        700        710        720 
VLQNNKDFLF GNIRELYEFH NRTFLKELEK CAENPELLAH CFLKRKEDLQ IYFKYHKNLP 

       730        740        750        760        770        780 
RARAIWQECQ DCAYFGVCQR QLDHNLPLFK YLKGPSQRLI KYQMLLKGLL DFESPEDMEI 

       790        800        810        820        830        840 
DPGELGGSAK DGPKRTKDSA FSTELQQALA VIEDLIKSCE LAVDLAAVTE CPDDIGKLGK 

       850        860        870        880        890        900 
LLLHGPFSVW TIHKDRYKMK DLIRFKPSQR QIYLFERGIV FCKIRMEPGD QGLSPHYSFK 

       910        920        930        940        950        960 
KTMKLMTLSI RQLGRGSHRK FEIASRNGLE KYILQAASKE IRDCWFSEIS KLLMEQQNNI 

       970        980        990       1000       1010       1020 
KDQGNPQFEM STSKGSGAGS GPWIKNMERA TTSKEDPASS TGGIKGCSSR EFSSMDTFED 

      1030       1040       1050       1060       1070       1080 
CEGAEDMEKE SSALSLAGLF QSDDSHETCS SKSAFLERGE SSQGEKEERD EEETATRSTE 

      1090       1100       1110 
EERAGASTGR LAPAGATAGF QARALRPRTS AQES 

« Hide

Isoform 2 [UniParc].

Checksum: F3B6D2AB120CBB46
Show »

FASTA71181,877
Isoform 3 [UniParc].

Checksum: 1BA4CEC31B366D69
Show »

FASTA62871,912
Isoform 4 [UniParc].

Checksum: CF969FBCF6C4EC7D
Show »

FASTA1,074122,922

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT LEU-359.
Tissue: Cerebellum.
[2]"The DNA sequence, annotation and analysis of human chromosome 3."
Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. expand/collapse author list , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 804-1114 (ISOFORM 4), VARIANTS LEU-378; SER-589 AND ALA-902.
Tissue: Brain and Pancreas.
[4]"DRG, a novel guanine-nucleotide exchange factor for Rho family."
Yamauchi J., Miyamoto Y., Itoh H.
Submitted (NOV-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 57-1114 (ISOFORM 1), VARIANT ALA-902.
[5]"Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
DNA Res. 5:355-364(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 133-1114 (ISOFORM 1), VARIANTS MET-159 AND ALA-902.
Tissue: Brain.
[6]"Search for type 2 diabetes susceptibility genes on chromosomes 1q, 3q and 12q."
Takeuchi F., Ochiai Y., Serizawa M., Yanai K., Kuzuya N., Kajio H., Honjo S., Takeda N., Kaburagi Y., Yasuda K., Shirasawa S., Sasazuki T., Kato N.
J. Hum. Genet. 53:314-324(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN NONINSULIN-DEPENDENT DIABETES MELLITUS, TISSUE SPECIFICITY.
[7]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] PRO-254; HIS-622 AND PHE-1039.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS3243.1. [Q86YR7-1]
RefSeqNP_055893.3. NM_015078.3.
UniGeneHs.208267.

3D structure databases

ProteinModelPortalQ86YR7.
SMRQ86YR7. Positions 620-956.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116728. 1 interaction.
IntActQ86YR7. 3 interactions.
STRING9606.ENSP00000328118.

PTM databases

PhosphoSiteQ86YR7.

Polymorphism databases

DMDM317373423.

Proteomic databases

PaxDbQ86YR7.
PRIDEQ86YR7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000328913; ENSP00000328118; ENSG00000053524. [Q86YR7-1]
ENST00000414362; ENSP00000414131; ENSG00000053524. [Q86YR7-3]
ENST00000447025; ENSP00000388190; ENSG00000053524. [Q86YR7-2]
ENST00000473233; ENSP00000420070; ENSG00000053524. [Q86YR7-4]
GeneID23101.
KEGGhsa:23101.
UCSCuc003fli.1. human. [Q86YR7-1]
uc003flj.1. human. [Q86YR7-2]

Organism-specific databases

CTD23101.
GeneCardsGC03M182895.
HGNCHGNC:30319. MCF2L2.
HPAHPA038946.
HPA038947.
MIM125853. phenotype.
neXtProtNX_Q86YR7.
PharmGKBPA134863801.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG315020.
HOGENOMHOG000231361.
HOVERGENHBG062385.
InParanoidQ86YR7.
OMAPRCVELR.
OrthoDBEOG7KQ210.
PhylomeDBQ86YR7.
TreeFamTF318080.

Gene expression databases

ArrayExpressQ86YR7.
BgeeQ86YR7.
CleanExHS_MCF2L2.
GenevestigatorQ86YR7.

Family and domain databases

Gene3D1.20.900.10. 1 hit.
2.30.29.30. 1 hit.
InterProIPR001251. CRAL-TRIO_dom.
IPR000219. DH-domain.
IPR011993. PH_like_dom.
IPR001849. Pleckstrin_homology.
IPR018159. Spectrin/alpha-actinin.
[Graphical view]
PfamPF13716. CRAL_TRIO_2. 1 hit.
PF00621. RhoGEF. 1 hit.
[Graphical view]
SMARTSM00233. PH. 1 hit.
SM00325. RhoGEF. 1 hit.
SM00516. SEC14. 1 hit.
SM00150. SPEC. 1 hit.
[Graphical view]
SUPFAMSSF48065. SSF48065. 1 hit.
SSF52087. SSF52087. 1 hit.
PROSITEPS50191. CRAL_TRIO. 1 hit.
PS50010. DH_2. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSMCF2L2. human.
GenomeRNAi23101.
NextBio44281.
PROQ86YR7.
SOURCESearch...

Entry information

Entry nameMF2L2_HUMAN
AccessionPrimary (citable) accession number: Q86YR7
Secondary accession number(s): O94942 expand/collapse secondary AC list , Q6P2B8, Q6ZVJ5, Q8N318
Entry history
Integrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: January 11, 2011
Last modified: July 9, 2014
This is version 92 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM