U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 23101, updated on 27-Nov-2024

    Summary

    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 active in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in brain (RPKM 2.9), bone marrow (RPKM 2.0) and 21 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MCF2L2 in Genome Data Viewer
    Location:
    3q27.1
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (183178041..183428619, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (185984948..186236035, complement)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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)

    NEW Try the new Transcript table

    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_015078.4NP_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:623820
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      smart00516
      Location:52190
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      cd00176
      Location:321523
      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:827956
      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

    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_011512585.3XP_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:270467
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd00176
      Location:2170
      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:504600
      PH; PH domain
      cl17171
      Location:474603
      PH-like; Pleckstrin homology-like domain
    2. XM_047447751.1XP_047303707.1  probable guanine nucleotide exchange factor MCF2L2 isoform X5

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

      UniProtKB/TrEMBL
      A0A2X0U2L0
      Conserved Domains (4) summary
      smart00325
      Location:623820
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      smart00516
      Location:52190
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      cd00176
      Location:321523
      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:827956
      PH-like; Pleckstrin homology-like domain
    4. XM_017005945.3XP_016861434.2  probable guanine nucleotide exchange factor MCF2L2 isoform X3

      Related
      ENSP00000388190.2, ENST00000447025.6
      Conserved Domains (2) summary
      smart00516
      Location:52190
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      cd00176
      Location:321523
      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_017005946.3XP_016861435.2  probable guanine nucleotide exchange factor MCF2L2 isoform X3

      Related
      ENSP00000414131.2, ENST00000414362.6
      Conserved Domains (2) summary
      smart00516
      Location:52190
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      cd00176
      Location:321523
      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_017005944.3XP_016861433.2  probable guanine nucleotide exchange factor MCF2L2 isoform X2

      Conserved Domains (2) summary
      smart00516
      Location:52190
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      cd00176
      Location:321523
      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_054345762.1XP_054201737.1  probable guanine nucleotide exchange factor MCF2L2 isoform X4

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

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

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

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

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