Q86YR7 (MF2L2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 81.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | 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 names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1114 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence 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. |
| 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 diversity | Alternative splicing Polymorphism |
| Disease | Diabetes mellitus |
| Molecular function | Guanine-nucleotide releasing factor |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | regulation of Rho protein signal transduction Inferred from electronic annotation. Source: InterPro |
| Cellular_component | intracellular Inferred from electronic annotation. Source: InterPro |
| Molecular_function | Rho guanyl-nucleotide exchange factor activity Inferred from electronic annotation. Source: InterPro phospholipid bindingInferred 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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1114 | 1114 | Probable guanine nucleotide exchange factor MCF2L2 | PRO_0000337087 | |||||
Regions | |||||||||
| Domain | 11 – 193 | 183 | CRAL-TRIO | ||||||
| Repeat | 323 – 428 | 106 | Spectrin | ||||||
| Domain | 619 – 822 | 204 | DH | ||||||
| Domain | 834 – 954 | 121 | PH | ||||||
Natural variations | |||||||||
| Alternative sequence | 622 – 628 | 7 | RIIRDLL → YSSQYFK in isoform 3. | VSP_033872 | |||||
| Alternative sequence | 629 – 1114 | 486 | Missing in isoform 3. | VSP_033873 | |||||
| Alternative sequence | 706 – 711 | 6 | KEDLQI → VSLYSQ in isoform 2. | VSP_033874 | |||||
| Alternative sequence | 712 – 1114 | 403 | Missing in isoform 2. | VSP_033875 | |||||
| Alternative sequence | 1075 – 1114 | 40 | Missing in isoform 4. | VSP_033876 | |||||
| Natural variant | 159 | 1 | T → M. Ref.5 Corresponds to variant rs12632177 [ dbSNP | Ensembl ]. | VAR_043587 | |||||
| Natural variant | 254 | 1 | L → P in a colorectal cancer sample; somatic mutation. Ref.7 | VAR_043588 | |||||
| Natural variant | 277 | 1 | N → S. Corresponds to variant rs13082605 [ dbSNP | Ensembl ]. | VAR_043589 | |||||
| Natural variant | 359 | 1 | I → L. Ref.1 Corresponds to variant rs7639705 [ dbSNP | Ensembl ]. | VAR_043590 | |||||
| Natural variant | 378 | 1 | Q → L. Ref.3 Corresponds to variant rs2293203 [ dbSNP | Ensembl ]. | VAR_043591 | |||||
| Natural variant | 589 | 1 | F → S. Ref.3 Corresponds to variant rs3732602 [ dbSNP | Ensembl ]. | VAR_043592 | |||||
| Natural variant | 622 | 1 | R → H in a colorectal cancer sample; somatic mutation. Ref.7 | VAR_043593 | |||||
| Natural variant | 772 | 1 | F → L. Corresponds to variant rs9826325 [ dbSNP | Ensembl ]. | VAR_043594 | |||||
| Natural variant | 902 | 1 | T → A. Ref.3 Ref.4 Ref.5 Corresponds to variant rs6804951 [ dbSNP | Ensembl ]. | VAR_043595 | |||||
| Natural variant | 1015 | 1 | M → T. Corresponds to variant rs35070271 [ dbSNP | Ensembl ]. | VAR_043596 | |||||
| Natural variant | 1039 | 1 | L → F in a breast cancer sample; somatic mutation. Ref.7 | VAR_043597 | |||||
Experimental info | |||||||||
| Sequence conflict | 373 | 1 | P → S in AAO19651. Ref.4 | ||||||
| Sequence conflict | 373 | 1 | P → S in BAA74884. Ref.5 | ||||||
Sequences
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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. 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. 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. 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. |
| IPI | IPI00175989. IPI00792233. IPI00792687. IPI00893924. |
| RefSeq | NP_055893.2. NM_015078.2. |
| UniGene | Hs.208267. |
3D structure databases | |
| HSSP | HSSP built from PDB template 1RJ2 based on UniProtKB Q63406. |
| ProteinModelPortal | Q86YR7. |
| SMR | Q86YR7. Positions 318-424, 620-956. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q86YR7. 3 interactions. |
| STRING | 9606.ENSP00000328118. |
PTM databases | |
| PhosphoSite | Q86YR7. |
Polymorphism databases | |
| DMDM | 189081807. |
Proteomic databases | |
| PaxDb | Q86YR7. |
| PRIDE | Q86YR7. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000328913; ENSP00000328118; ENSG00000053524. ENST00000414362; ENSP00000414131; ENSG00000053524. ENST00000447025; ENSP00000388190; ENSG00000053524. ENST00000473233; ENSP00000420070; ENSG00000053524. |
| GeneID | 23101. |
| KEGG | hsa:23101. |
| UCSC | uc003fli.1. human. uc003flj.1. human. |
Organism-specific databases | |
| CTD | 23101. |
| GeneCards | GC03M182895. |
| HGNC | HGNC:30319. MCF2L2. |
| HPA | HPA038946. HPA038947. |
| MIM | 125853. phenotype. |
| neXtProt | NX_Q86YR7. |
| PharmGKB | PA134863801. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG315020. |
| HOGENOM | HOG000231361. |
| HOVERGEN | HBG062385. |
| InParanoid | Q86YR7. |
| OMA | CIQEPAT. |
| OrthoDB | EOG48SGS7. |
| PhylomeDB | Q86YR7. |
Gene expression databases | |
| ArrayExpress | Q86YR7. |
| Bgee | Q86YR7. |
| CleanEx | HS_MCF2L2. |
| Genevestigator | Q86YR7. |
Family and domain databases | |
| Gene3D | 1.20.900.10. 1 hit. 2.30.29.30. 1 hit. |
| InterPro | IPR001251. CRAL-TRIO_dom. IPR000219. DH-domain. IPR011993. PH_like_dom. IPR001849. Pleckstrin_homology. IPR018159. Spectrin/alpha-actinin. [Graphical view] |
| Pfam | PF00621. RhoGEF. 1 hit. [Graphical view] |
| SMART | SM00233. PH. 1 hit. SM00325. RhoGEF. 1 hit. SM00516. SEC14. 1 hit. SM00150. SPEC. 1 hit. [Graphical view] |
| SUPFAM | SSF48065. DH-domain. 1 hit. |
| PROSITE | PS50191. CRAL_TRIO. 1 hit. PS00741. DH_1. False negative. PS50010. DH_2. 1 hit. PS50003. PH_DOMAIN. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | MCF2L2. human. |
| GenomeRNAi | 23101. |
| NextBio | 44281. |
| SOURCE | Search... |
Entry information
| Entry name | MF2L2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q86YR7 Secondary accession number(s): O94942 Q8N318 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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
| Human chromosome 3 Human chromosome 3: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
