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    FHL2 four and a half LIM domains 2 [ Homo sapiens (human) ]

    Gene ID: 2274, updated on 27-Nov-2024

    Summary

    Official Symbol
    FHL2provided by HGNC
    Official Full Name
    four and a half LIM domains 2provided by HGNC
    Primary source
    HGNC:HGNC:3703
    See related
    Ensembl:ENSG00000115641 MIM:602633; AllianceGenome:HGNC:3703
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DRAL; AAG11; FHL-2; SLIM3; SLIM-3
    Summary
    This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. This protein is thought to have a role in the assembly of extracellular membranes. Also, this gene is down-regulated during transformation of normal myoblasts to rhabdomyosarcoma cells and the encoded protein may function as a link between presenilin-2 and an intracellular signaling pathway. Multiple alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2016]
    Expression
    Biased expression in heart (RPKM 149.2), ovary (RPKM 139.8) and 13 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FHL2 in Genome Data Viewer
    Location:
    2q12.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (105357712..105438529, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (105818881..105899699, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (105974169..106054986, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:105866724-105867602 Neighboring gene transforming growth factor beta receptor associated protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16313 Neighboring gene Sharpr-MPRA regulatory region 6730 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11837 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16314 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16315 Neighboring gene C2orf49 divergent transcript Neighboring gene chromosome 2 open reading frame 49 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:105985867-105986368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:105986369-105986868 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16316 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:106015289-106016111 Neighboring gene NANOG hESC enhancer GRCh37_chr2:106043866-106044367 Neighboring gene uncharacterized LOC105373529 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:106093757-106093969 Neighboring gene VISTA enhancer hs2590 Neighboring gene uncharacterized LOC105375311

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables bHLH transcription factor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription corepressor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables transcription corepressor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in Z disc IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in focal adhesion HDA PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    four and a half LIM domains protein 2
    Names
    LIM domain protein DRAL
    aging-associated gene 11
    down-regulated in rhabdomyosarcoma LIM protein
    skeletal muscle LIM-protein 3

    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.

    Genomic

    1. NG_008844.2 RefSeqGene

      Range
      5261..82948
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_740

    mRNA and Protein(s)

    1. NM_001039492.3NP_001034581.1  four and a half LIM domains protein 2 isoform a

      See identical proteins and their annotated locations for NP_001034581.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 2. Variants 1, 2, 4, 5, 6, 7, 8 and 12 all encode the same isoform (a).
      Source sequence(s)
      AC012360, AC108058, DQ266432, L42176
      Consensus CDS
      CCDS2070.1
      UniProtKB/Swiss-Prot
      Q13229, Q13644, Q14192, Q2I5I4, Q5TM15, Q9P294
      UniProtKB/TrEMBL
      D3DVK0, Q2TSB7, Q561W1, Q6I9R8
      Related
      ENSP00000322909.8, ENST00000322142.13
      Conserved Domains (5) summary
      cd09422
      Location:3697
      LIM1_FHL2; The first LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cd09426
      Location:101157
      LIM2_FHL2; The second LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cd09431
      Location:162218
      LIM3_Fhl2; The third LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cd09433
      Location:221278
      LIM4_FHL2; The fourth LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cl02475
      Location:533
      LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
    2. NM_001318894.1NP_001305823.1  four and a half LIM domains protein 2 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 2. Variants 1, 2, 4, 5, 6, 7, 8 and 12 all encode the same isoform (a).
      Source sequence(s)
      AC108058, CR936682, DQ266432
      Consensus CDS
      CCDS2070.1
      UniProtKB/Swiss-Prot
      Q13229, Q13644, Q14192, Q2I5I4, Q5TM15, Q9P294
      UniProtKB/TrEMBL
      D3DVK0, Q2TSB7, Q561W1, Q6I9R8
      Related
      ENSP00000386892.3, ENST00000409177.6
      Conserved Domains (5) summary
      cd09422
      Location:3697
      LIM1_FHL2; The first LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cd09426
      Location:101157
      LIM2_FHL2; The second LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cd09431
      Location:162218
      LIM3_Fhl2; The third LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cd09433
      Location:221278
      LIM4_FHL2; The fourth LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cl02475
      Location:533
      LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
    3. NM_001318895.3NP_001305824.1  four and a half LIM domains protein 2 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 2. Variants 1, 2, 4, 5, 6, 7, 8 and 12 all encode the same isoform (a).
      Source sequence(s)
      AC108058, DQ266432
      Consensus CDS
      CCDS2070.1
      UniProtKB/Swiss-Prot
      Q13229, Q13644, Q14192, Q2I5I4, Q5TM15, Q9P294
      UniProtKB/TrEMBL
      D3DVK0, Q2TSB7, Q561W1, Q6I9R8
      Related
      ENSP00000433567.2, ENST00000530340.6
      Conserved Domains (5) summary
      cd09422
      Location:3697
      LIM1_FHL2; The first LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cd09426
      Location:101157
      LIM2_FHL2; The second LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cd09431
      Location:162218
      LIM3_Fhl2; The third LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cd09433
      Location:221278
      LIM4_FHL2; The fourth LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cl02475
      Location:533
      LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
    4. NM_001318896.2NP_001305825.1  four and a half LIM domains protein 2 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 2. Variants 1, 2, 4, 5, 6, 7, 8 and 12 all encode the same isoform (a).
      Source sequence(s)
      AC012360, AL521653, DA682076, DQ266432
      Consensus CDS
      CCDS2070.1
      UniProtKB/Swiss-Prot
      Q13229, Q13644, Q14192, Q2I5I4, Q5TM15, Q9P294
      UniProtKB/TrEMBL
      D3DVK0, Q2TSB7, Q561W1, Q6I9R8
      Related
      ENSP00000386633.1, ENST00000408995.5
      Conserved Domains (5) summary
      cd09422
      Location:3697
      LIM1_FHL2; The first LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cd09426
      Location:101157
      LIM2_FHL2; The second LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cd09431
      Location:162218
      LIM3_Fhl2; The third LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cd09433
      Location:221278
      LIM4_FHL2; The fourth LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cl02475
      Location:533
      LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
    5. NM_001318897.2NP_001305826.1  four and a half LIM domains protein 2 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR and lacks an alternate exon compared to variant 2. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 9 and 10 both encode the same isoform (b).
      Source sequence(s)
      AB158503, AC012360, BP257466, DQ266432
      UniProtKB/TrEMBL
      Q53T40
      Conserved Domains (3) summary
      cd09431
      Location:48104
      LIM3_Fhl2; The third LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cd09433
      Location:107164
      LIM4_FHL2; The fourth LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cl02475
      Location:143
      LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
    6. NM_001318898.2NP_001305827.1  four and a half LIM domains protein 2 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) lacks two alternate exons compared to variant 2. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 9 and 10 both encode the same isoform (b).
      Source sequence(s)
      AC012360, BI562043, DQ266432
      UniProtKB/TrEMBL
      Q53T40
      Conserved Domains (3) summary
      cd09431
      Location:48104
      LIM3_Fhl2; The third LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cd09433
      Location:107164
      LIM4_FHL2; The fourth LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cl02475
      Location:143
      LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
    7. NM_001318899.2NP_001305828.1  four and a half LIM domains protein 2 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) differs in the 5' UTR and contains an alternate internal exon compared to variant 2. The resulting isoform (c) is shorter at the N-terminus compared to isoform a.
      Source sequence(s)
      AC012360, AC108058, BM559077, DA682076, DQ266432
      UniProtKB/TrEMBL
      Q53T40
      Conserved Domains (3) summary
      cd09431
      Location:54110
      LIM3_Fhl2; The third LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cd09433
      Location:113170
      LIM4_FHL2; The fourth LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cl02475
      Location:149
      LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
    8. NM_001374399.1NP_001361328.1  four and a half LIM domains protein 2 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) differs in the 5' UTR compared to variant 2. Variants 1, 2, 4, 5, 6, 7, 8 and 12 all encode the same isoform (a).
      Source sequence(s)
      AC012360, AC068273, AC108058
      Consensus CDS
      CCDS2070.1
      UniProtKB/Swiss-Prot
      Q13229, Q13644, Q14192, Q2I5I4, Q5TM15, Q9P294
      UniProtKB/TrEMBL
      D3DVK0, Q2TSB7, Q561W1, Q6I9R8
      Related
      ENSP00000386665.1, ENST00000409807.5
      Conserved Domains (5) summary
      cd09422
      Location:3697
      LIM1_FHL2; The first LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cd09426
      Location:101157
      LIM2_FHL2; The second LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cd09431
      Location:162218
      LIM3_Fhl2; The third LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cd09433
      Location:221278
      LIM4_FHL2; The fourth LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cl02475
      Location:533
      LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
    9. NM_001450.4NP_001441.4  four and a half LIM domains protein 2 isoform a

      See identical proteins and their annotated locations for NP_001441.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 2. Variants 1, 2, 4, 5, 6, 7, 8 and 12 all encode the same isoform (a).
      Source sequence(s)
      AA758053, AC012360, BC014397, L42176
      Consensus CDS
      CCDS2070.1
      UniProtKB/Swiss-Prot
      Q13229, Q13644, Q14192, Q2I5I4, Q5TM15, Q9P294
      UniProtKB/TrEMBL
      D3DVK0, Q2TSB7, Q561W1, Q6I9R8
      Related
      ENSP00000377021.3, ENST00000393353.7
      Conserved Domains (5) summary
      cd09422
      Location:3697
      LIM1_FHL2; The first LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cd09426
      Location:101157
      LIM2_FHL2; The second LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cd09431
      Location:162218
      LIM3_Fhl2; The third LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cd09433
      Location:221278
      LIM4_FHL2; The fourth LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cl02475
      Location:533
      LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
    10. NM_201555.3NP_963849.1  four and a half LIM domains protein 2 isoform a

      See identical proteins and their annotated locations for NP_963849.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes isoform a. Variants 1, 2, 4, 5, 6, 7, 8 and 12 all encode the same isoform.
      Source sequence(s)
      BC014397, L42176
      Consensus CDS
      CCDS2070.1
      UniProtKB/Swiss-Prot
      Q13229, Q13644, Q14192, Q2I5I4, Q5TM15, Q9P294
      UniProtKB/TrEMBL
      D3DVK0, Q2TSB7, Q561W1, Q6I9R8
      Related
      ENSP00000344266.5, ENST00000344213.9
      Conserved Domains (5) summary
      cd09422
      Location:3697
      LIM1_FHL2; The first LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cd09426
      Location:101157
      LIM2_FHL2; The second LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cd09431
      Location:162218
      LIM3_Fhl2; The third LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cd09433
      Location:221278
      LIM4_FHL2; The fourth LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cl02475
      Location:533
      LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
    11. NM_201557.5NP_963851.2  four and a half LIM domains protein 2 isoform a

      See identical proteins and their annotated locations for NP_963851.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 2. Variants 1, 2, 4, 5, 6, 7, 8 and 12 all encode the same isoform (a).
      Source sequence(s)
      BP257466, DQ266432, U29332
      Consensus CDS
      CCDS2070.1
      UniProtKB/Swiss-Prot
      Q13229, Q13644, Q14192, Q2I5I4, Q5TM15, Q9P294
      UniProtKB/TrEMBL
      D3DVK0, Q2TSB7, Q561W1, Q6I9R8
      Related
      ENSP00000377020.3, ENST00000393352.7
      Conserved Domains (5) summary
      cd09422
      Location:3697
      LIM1_FHL2; The first LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cd09426
      Location:101157
      LIM2_FHL2; The second LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cd09431
      Location:162218
      LIM3_Fhl2; The third LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cd09433
      Location:221278
      LIM4_FHL2; The fourth LIM domain of Four and a half LIM domains protein 2 (FHL2)
      cl02475
      Location:533
      LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      105357712..105438529 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      105818881..105899699 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_201556.1: Suppressed sequence

      Description
      NM_201556.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.