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

Gene ID: 23101, updated on 26-Nov-2022

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 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
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Genomic context

Location:
3q27.1
Exon count:
34
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (183178041..183428619, complement)
110 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 small nucleolar RNA, C/D box 3 pseudogene 4 Neighboring gene uncharacterized LOC124906310 Neighboring gene RNA, 5S ribosomal pseudogene 151 Neighboring gene UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 Neighboring gene uncharacterized LOC107986160 Neighboring gene Sharpr-MPRA regulatory region 12547 Neighboring gene Sharpr-MPRA regulatory region 15184 Neighboring gene small nucleolar RNA SNORA81 Neighboring gene long intergenic non-protein coding RNA 888 Neighboring gene small nucleolar RNA, H/ACA box 63D

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

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
PubMed 
Process Evidence Code Pubs
involved_in regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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
    Q8N318
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

    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)