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

Gene ID: 2274, updated on 9-Dec-2018

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
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

Genomic context

See FHL2 in Genome Data Viewer
Location:
2q12.2
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (105360826..105438773, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (105977272..106055230, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene transforming growth factor beta receptor associated protein 1 Neighboring gene uncharacterized LOC100506473 Neighboring gene chromosome 2 open reading frame 49 Neighboring gene uncharacterized LOC105373529 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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
androgen receptor binding NAS
Non-traceable Author Statement
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription coactivator activity NAS
Non-traceable Author Statement
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
androgen receptor signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
atrial cardiac muscle cell development IEA
Inferred from Electronic Annotation
more info
 
heart trabecula formation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of calcineurin-NFAT signaling cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
regulation of lipid metabolic process TAS
Traceable Author Statement
more info
 
response to hormone IMP
Inferred from Mutant Phenotype
more info
PubMed 
ventricular cardiac muscle cell development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
M band IEA
Inferred from Electronic Annotation
more info
 
Z disc IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
focal adhesion HDA PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

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
    5001..82948
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001039492.2NP_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, and 8 all encode the same isoform (a).
    Source sequence(s)
    AC108058, BM836767, DQ266432, L42176
    Consensus CDS
    CCDS2070.1
    UniProtKB/Swiss-Prot
    Q14192
    UniProtKB/TrEMBL
    Q2XQU9, Q6I9R8
    Related
    ENSP00000322909.8, ENST00000322142.12
    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, and 8 all encode the same isoform (a).
    Source sequence(s)
    AC108058, CR936682, DQ266432
    Consensus CDS
    CCDS2070.1
    UniProtKB/Swiss-Prot
    Q14192
    UniProtKB/TrEMBL
    Q2XQU9, Q6I9R8
    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_001318895.1NP_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, and 8 all encode the same isoform (a).
    Source sequence(s)
    AC108058, DQ266432
    Consensus CDS
    CCDS2070.1
    UniProtKB/Swiss-Prot
    Q14192
    UniProtKB/TrEMBL
    Q2XQU9, Q6I9R8
    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_001318896.1NP_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, and 8 all encode the same isoform (a).
    Source sequence(s)
    AL521653, BM836767, DA682076, DQ266432
    Consensus CDS
    CCDS2070.1
    UniProtKB/Swiss-Prot
    Q14192
    UniProtKB/TrEMBL
    Q2XQU9, 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_001318897.1NP_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, BP257466, DQ266432
    UniProtKB/Swiss-Prot
    Q14192
    UniProtKB/TrEMBL
    Q2XQU9
    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_001318898.1NP_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)
    BI562043, DQ266432
    UniProtKB/TrEMBL
    Q2XQU9
    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_001318899.1NP_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)
    AC108058, BM559077, BM836767, DA682076, DQ266432
    UniProtKB/TrEMBL
    Q2XQU9
    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_001450.3NP_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, and 8 all encode the same isoform (a).
    Source sequence(s)
    AA758053, BC014397, L42176
    Consensus CDS
    CCDS2070.1
    UniProtKB/Swiss-Prot
    Q14192
    UniProtKB/TrEMBL
    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
  9. NM_201555.1NP_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) represents the longest transcript. Variants 1, 2, 4, 5, 6, 7, and 8 all encode the same isoform (a).
    Source sequence(s)
    AA758053, BC014397, L42176
    Consensus CDS
    CCDS2070.1
    UniProtKB/Swiss-Prot
    Q14192
    UniProtKB/TrEMBL
    Q6I9R8
    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_201557.3NP_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, and 8 all encode the same isoform (a).
    Source sequence(s)
    BP257466, DQ266432, U29332
    Consensus CDS
    CCDS2070.1
    UniProtKB/Swiss-Prot
    Q14192
    UniProtKB/TrEMBL
    Q2XQU9, 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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    105360826..105438773 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510798.2XP_011509100.1  four and a half LIM domains protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011509100.1

    UniProtKB/Swiss-Prot
    Q14192
    UniProtKB/TrEMBL
    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

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.
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