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    MCF2L2 MCF.2 cell line derived transforming sequence-like 2 [ Homo sapiens (human) ]

    Gene ID: 23101, updated on 11-Apr-2024

    Summary

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    Official Symbol
    MCF2L2provided by HGNC
    Official Full Name
    MCF.2 cell line derived transforming sequence-like 2provided by HGNC
    Primary source
    HGNC:HGNC:30319
    See related
    Ensembl:ENSG00000053524 MIM:619946; AllianceGenome:HGNC:30319
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ARHGEF22
    Summary
    Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of catalytic activity. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in brain (RPKM 2.9), bone marrow (RPKM 2.0) and 21 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    3q27.1
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (183178041..183428619, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (185984948..186236035, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (182895829..183146407, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene lysosomal associated membrane protein 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20885 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:182877289-182877788 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20886 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14937 Neighboring gene small nucleolar RNA, C/D box 3 pseudogene 4 Neighboring gene MPRA-validated peak4957 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr3:182951891-182952104 Neighboring gene uncharacterized LOC124906310 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:182980890-182981594 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:182983517-182984716 Neighboring gene RNA, 5S ribosomal pseudogene 151 Neighboring gene UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:183003113-183004312 Neighboring gene uncharacterized LOC107986160 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:183014350-183015174 Neighboring gene Sharpr-MPRA regulatory region 12547 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14938 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14939 Neighboring gene NANOG hESC enhancer GRCh37_chr3:183118178-183118679 Neighboring gene Sharpr-MPRA regulatory region 15184 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14940 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:183152219-183153159 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:183165063-183165598 Neighboring gene small nucleolar RNA SNORA81 Neighboring gene small nucleolar RNA, H/ACA box 63D Neighboring gene small nucleolar RNA host gene 33

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: 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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    Related articles in PubMed

    1. Family-based association study of the MCF2L2 gene and polycystic ovary syndrome. Zheng Q, et al. Gynecol Obstet Invest, 2009. PMID 19648752
    2. Effects of MCF2L2, ADIPOQ and SOX2 genetic polymorphisms on the development of nephropathy in type 1 Diabetes Mellitus. Zhang D, et al. BMC Med Genet, 2010 Jul 28. PMID 20667095, Free PMC Article
    3. Search for type 2 diabetes susceptibility genes on chromosomes 1q, 3q and 12q. Takeuchi F, et al. J Hum Genet, 2008. PMID 18259684
    4. Identification and characterization of proteins interacting with SIRT1 and SIRT3: implications in the anti-aging and metabolic effects of sirtuins. Law IK, et al. Proteomics, 2009 May. PMID 19343720
    5. Engagement of the G3BP2-TRIM25 Interaction by Nucleocapsid Protein Suppresses the Type I Interferon Response in SARS-CoV-2-Infected Cells. Yang Z, et al. Vaccines (Basel), 2022 Nov 29. PMID 36560452, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Effects of MCF2L2, ADIPOQ and SOX2 genetic polymorphisms on the development of nephropathy in type 1 Diabetes Mellitus.
    2. MCF2L2 Leu359Ile polymorphism is associated with decreased risk of diabetic nephropathy in female type 1 diabetes mellitus.
      Title: Effects of MCF2L2, ADIPOQ and SOX2 genetic polymorphisms on the development of nephropathy in type 1 Diabetes Mellitus.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. Results suggest that the genetic polymorphisms within MCF2L2 may confer an increased susceptibility to PCOS in the Chinese population. Data may provide a basis for further studies of the role of the MCF2L2 gene in the etiology of PCOS.
      Title: Family-based association study of the MCF2L2 gene and polycystic ovary syndrome.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Family-based association study of the MCF2L2 gene and polycystic ovary syndrome.
    Submit: New GeneRIF Correction

    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ42509, KIAA0861, DKFZp686H2395, DKFZp686K0690

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    probable guanine nucleotide exchange factor MCF2L2
    Names
    MCF2-transforming sequence-like protein 2
    dbs-related Rho family guanine nucleotide exchange factor

    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.

    mRNA and Protein(s)

    1. NM_015078.4 → NP_055893.4  probable guanine nucleotide exchange factor MCF2L2

      Status: VALIDATED

      Source sequence(s)
      AC069417, AC092960, AC104641, AC112647
      Consensus CDS
      CCDS3243.1
      UniProtKB/Swiss-Prot
      O94942, Q6P2B8, Q6ZVJ5, Q86YR7, Q8N318
      UniProtKB/TrEMBL
      A0A2X0U2L0
      Related
      ENSP00000328118.3, ENST00000328913.8
      Conserved Domains (4) summary
      smart00325
      Location:623 → 820
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      smart00516
      Location:52 → 190
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      cd00176
      Location:321 → 523
      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; ...
      cl17171
      Location:827 → 956
      PH-like; Pleckstrin homology-like domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      183178041..183428619 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011512585.3 → XP_011510887.1  probable guanine nucleotide exchange factor MCF2L2 isoform X4

      See identical proteins and their annotated locations for XP_011510887.1

      Conserved Domains (4) summary
      smart00325
      Location:270 → 467
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd00176
      Location:2 → 170
      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:504 → 600
      PH; PH domain
      cl17171
      Location:474 → 603
      PH-like; Pleckstrin homology-like domain

    2. XM_047447751.1 → XP_047303707.1  probable guanine nucleotide exchange factor MCF2L2 isoform X5

    3. XM_017005943.3 → XP_016861432.2  probable guanine nucleotide exchange factor MCF2L2 isoform X1

      UniProtKB/TrEMBL
      A0A2X0U2L0
      Conserved Domains (4) summary
      smart00325
      Location:623 → 820
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      smart00516
      Location:52 → 190
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      cd00176
      Location:321 → 523
      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; ...
      cl17171
      Location:827 → 956
      PH-like; Pleckstrin homology-like domain

    4. XM_017005945.3 → XP_016861434.2  probable guanine nucleotide exchange factor MCF2L2 isoform X3

      Related
      ENSP00000388190.2, ENST00000447025.6
      Conserved Domains (2) summary
      smart00516
      Location:52 → 190
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      cd00176
      Location:321 → 523
      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; ...

    5. XM_017005946.3 → XP_016861435.2  probable guanine nucleotide exchange factor MCF2L2 isoform X3

      Related
      ENSP00000414131.2, ENST00000414362.6
      Conserved Domains (2) summary
      smart00516
      Location:52 → 190
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      cd00176
      Location:321 → 523
      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; ...

    6. XM_017005944.3 → XP_016861433.2  probable guanine nucleotide exchange factor MCF2L2 isoform X2

      Conserved Domains (2) summary
      smart00516
      Location:52 → 190
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      cd00176
      Location:321 → 523
      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; ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      185984948..186236035 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345762.1 → XP_054201737.1  probable guanine nucleotide exchange factor MCF2L2 isoform X4

    2. XM_054345763.1 → XP_054201738.1  probable guanine nucleotide exchange factor MCF2L2 isoform X5

    3. XM_054345758.1 → XP_054201733.1  probable guanine nucleotide exchange factor MCF2L2 isoform X1

    4. XM_054345760.1 → XP_054201735.1  probable guanine nucleotide exchange factor MCF2L2 isoform X3

    5. XM_054345761.1 → XP_054201736.1  probable guanine nucleotide exchange factor MCF2L2 isoform X3

    6. XM_054345759.1 → XP_054201734.1  probable guanine nucleotide exchange factor MCF2L2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86YR7.3 GenPept UniProtKB/Swiss-Prot:Q86YR7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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