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Aliases for ABLIM2 Gene

Aliases for ABLIM2 Gene

  • Actin Binding LIM Protein Family Member 2 2 3 5
  • AbLIM-2 3 4
  • Testis Tissue Sperm-Binding Protein Li 35a 3
  • Actin Binding LIM Protein Family, Member 2 2
  • Actin-Binding LIM Protein Family Member 2 4
  • Actin-Binding LIM Protein 2 3
  • Actin Binding LIM Protein 2 2
  • KIAA1808 4

External Ids for ABLIM2 Gene

Previous GeneCards Identifiers for ABLIM2 Gene

  • GC04M007934
  • GC04M008116
  • GC04M008159
  • GC04M008085
  • GC04M008017

Summaries for ABLIM2 Gene

GeneCards Summary for ABLIM2 Gene

ABLIM2 (Actin Binding LIM Protein Family Member 2) is a Protein Coding gene. Among its related pathways are Developmental Biology and Netrin Signaling. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is ABLIM1.

UniProtKB/Swiss-Prot for ABLIM2 Gene

  • May act as scaffold protein. May stimulate ABRA activity and ABRA-dependent SRF transcriptional activity.

Additional gene information for ABLIM2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABLIM2 Gene

Genomics for ABLIM2 Gene

GeneHancer (GH) Regulatory Elements for ABLIM2 Gene

Promoters and enhancers for ABLIM2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J008158 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 656 -0.3 -278 1.8 PKNOX1 ATF1 ARID4B SIN3A DMAP1 ZNF48 ETS1 ZNF766 ZNF207 ZNF143 ABLIM2 GC04M008101
GH04J008089 Enhancer 0.6 ENCODE dbSUPER 18.3 +68.4 68385 1 JUN ZBTB40 ABLIM2 ENSG00000251460 PIR33629 GC04M008072 GC04P008069
GH04J008100 Enhancer 0.9 ENCODE dbSUPER 11.5 +57.4 57422 2.2 BCOR ZNF768 MXI1 MAX KLF17 ZMYM3 ZKSCAN1 E2F1 POLR2A RCOR1 ABLIM2 PIR33629 GC04P008069 GC04M008101
GH04J008131 Enhancer 0.4 dbSUPER 18.3 +23.8 23770 6.5 ATF2 ZIC2 NR2F2 ABLIM2 GMPSP1 SH3TC1 ENSG00000251186 TRMT44 GPR78 GC04M008101 PIR33629
GH04J008098 Enhancer 0.7 ENCODE dbSUPER 8.4 +59.7 59673 0.9 BCOR PTBP1 ZFP36 ZMYM3 ABLIM2 PIR33629 GC04P008069
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABLIM2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABLIM2 gene promoter:
  • IRF-7A
  • YY1
  • AML1a
  • Nkx6-1
  • POU3F2
  • CUTL1
  • Egr-3
  • CREB
  • POU6F1 (c2)
  • Sox9

Genomic Locations for ABLIM2 Gene

Genomic Locations for ABLIM2 Gene
chr4:7,965,310-8,158,832
(GRCh38/hg38)
Size:
193,523 bases
Orientation:
Minus strand
chr4:7,967,037-8,160,559
(GRCh37/hg19)
Size:
193,523 bases
Orientation:
Minus strand

Genomic View for ABLIM2 Gene

Genes around ABLIM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABLIM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABLIM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABLIM2 Gene

Proteins for ABLIM2 Gene

  • Protein details for ABLIM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6H8Q1-ABLM2_HUMAN
    Recommended name:
    Actin-binding LIM protein 2
    Protein Accession:
    Q6H8Q1
    Secondary Accessions:
    • E9PF39
    • Q08E71
    • Q19VH0
    • Q6H8Q0
    • Q6NX73
    • Q8N3C5
    • Q8N9E9
    • Q8N9G2
    • Q96JL7

    Protein attributes for ABLIM2 Gene

    Size:
    611 amino acids
    Molecular mass:
    67812 Da
    Quaternary structure:
    • Interacts with F-actin and ABRA.
    SequenceCaution:
    • Sequence=AAH67214.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ABLIM2 Gene

    Alternative splice isoforms for ABLIM2 Gene

neXtProt entry for ABLIM2 Gene

Post-translational modifications for ABLIM2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ABLIM2 Gene

Domains & Families for ABLIM2 Gene

Gene Families for ABLIM2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ABLIM2 Gene

Suggested Antigen Peptide Sequences for ABLIM2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ABLIM2: view

No data available for UniProtKB/Swiss-Prot for ABLIM2 Gene

Function for ABLIM2 Gene

Molecular function for ABLIM2 Gene

UniProtKB/Swiss-Prot Function:
May act as scaffold protein. May stimulate ABRA activity and ABRA-dependent SRF transcriptional activity.

Phenotypes From GWAS Catalog for ABLIM2 Gene

Gene Ontology (GO) - Molecular Function for ABLIM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0046872 metal ion binding IEA --
GO:0051015 actin filament binding IBA --
genes like me logo Genes that share ontologies with ABLIM2: view
genes like me logo Genes that share phenotypes with ABLIM2: view

Animal Model Products

CRISPR Products

miRNA for ABLIM2 Gene

miRTarBase miRNAs that target ABLIM2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABLIM2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ABLIM2 Gene

Localization for ABLIM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABLIM2 Gene

Cytoplasm. Note=In skeletal muscle, sarcomeric or cosarcomeric localization. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABLIM2 gene
Compartment Confidence
cytoskeleton 5
nucleus 3
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ABLIM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0015629 actin cytoskeleton IDA 17194709
genes like me logo Genes that share ontologies with ABLIM2: view

Pathways & Interactions for ABLIM2 Gene

genes like me logo Genes that share pathways with ABLIM2: view

Pathways by source for ABLIM2 Gene

1 KEGG pathway for ABLIM2 Gene
1 Qiagen pathway for ABLIM2 Gene

Gene Ontology (GO) - Biological Process for ABLIM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0007010 cytoskeleton organization IEA --
GO:0030032 lamellipodium assembly IBA --
GO:0030036 actin cytoskeleton organization IEA --
genes like me logo Genes that share ontologies with ABLIM2: view

No data available for SIGNOR curated interactions for ABLIM2 Gene

Drugs & Compounds for ABLIM2 Gene

No Compound Related Data Available

Transcripts for ABLIM2 Gene

Unigene Clusters for ABLIM2 Gene

Actin binding LIM protein family, member 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABLIM2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABLIM2 Gene

No ASD Table

Relevant External Links for ABLIM2 Gene

GeneLoc Exon Structure for
ABLIM2
ECgene alternative splicing isoforms for
ABLIM2

Expression for ABLIM2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ABLIM2 Gene

mRNA differential expression in normal tissues according to GTEx for ABLIM2 Gene

This gene is overexpressed in Muscle - Skeletal (x17.7).

Protein differential expression in normal tissues from HIPED for ABLIM2 Gene

This gene is overexpressed in Frontal cortex (26.2), Fetal Brain (17.5), and Retina (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ABLIM2 Gene



Protein tissue co-expression partners for ABLIM2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ABLIM2 Gene:

ABLIM2

SOURCE GeneReport for Unigene cluster for ABLIM2 Gene:

Hs.233404

mRNA Expression by UniProt/SwissProt for ABLIM2 Gene:

Q6H8Q1-ABLM2_HUMAN
Tissue specificity: Highly expressed in skeletal muscle.

Evidence on tissue expression from TISSUES for ABLIM2 Gene

  • Nervous system(4.6)
  • Heart(4.2)
  • Liver(4)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with ABLIM2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ABLIM2 Gene

Orthologs for ABLIM2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ABLIM2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABLIM2 34 33
  • 99.17 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ABLIM2 34 33
  • 90.7 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ABLIM2 34 33
  • 89.79 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ablim2 16 34 33
  • 87.47 (n)
rat
(Rattus norvegicus)
Mammalia Ablim2 33
  • 85.92 (n)
oppossum
(Monodelphis domestica)
Mammalia ABLIM2 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 44 (a)
ManyToMany
chicken
(Gallus gallus)
Aves ABLIM2 34 33
  • 76.9 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABLIM2 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ablim2 33
  • 72.12 (n)
zebrafish
(Danio rerio)
Actinopterygii ablim2 34 33
  • 69.35 (n)
OneToOne
Species where no ortholog for ABLIM2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ABLIM2 Gene

ENSEMBL:
Gene Tree for ABLIM2 (if available)
TreeFam:
Gene Tree for ABLIM2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABLIM2: view image

Paralogs for ABLIM2 Gene

Paralogs for ABLIM2 Gene

(9) SIMAP similar genes for ABLIM2 Gene using alignment to 7 proteins:

  • ABLM2_HUMAN
  • D6RAL0_HUMAN
  • F5GYR0_HUMAN
  • F5GZL6_HUMAN
  • F8W6D8_HUMAN
  • Q19VH1_HUMAN
  • Q4W5G4_HUMAN
genes like me logo Genes that share paralogs with ABLIM2: view

Variants for ABLIM2 Gene

Sequence variations from dbSNP and Humsavar for ABLIM2 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs757430763 A pancreatic ductal adenocarcinoma sample 8,061,051(-) C/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
VAR_062666 A pancreatic ductal adenocarcinoma sample p.Lys274Met
rs1000001034 -- 8,015,932(-) C/T intron_variant
rs1000031169 -- 8,109,652(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000041504 -- 8,074,833(-) T/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ABLIM2 Gene

Variant ID Type Subtype PubMed ID
dgv2930e59 CNV duplication 20981092
dgv643n27 CNV loss 19166990
esv1000260 CNV deletion 20482838
esv1632857 CNV deletion 17803354
esv23700 CNV loss 19812545
esv2659230 CNV deletion 23128226
esv2677688 CNV deletion 23128226
esv2727097 CNV deletion 23290073
esv2727098 CNV deletion 23290073
esv2727099 CNV deletion 23290073
esv2727100 CNV deletion 23290073
esv2727101 CNV deletion 23290073
esv2830903 CNV deletion 24192839
esv34140 CNV loss 18971310
esv34196 OTHER inversion 12058347
esv3563370 CNV deletion 23714750
esv3563372 CNV deletion 23714750
esv3599538 CNV loss 21293372
esv3599539 CNV loss 21293372
esv4240 CNV loss 18987735
nsv1002794 CNV gain 25217958
nsv1072359 CNV deletion 25765185
nsv1073729 CNV deletion 25765185
nsv290326 CNV deletion 16902084
nsv290664 CNV deletion 16902084
nsv461216 CNV loss 19166990
nsv469779 CNV loss 16826518
nsv470009 CNV loss 18288195
nsv508997 CNV insertion 20534489
nsv593621 CNV loss 21841781
nsv593622 CNV loss 21841781
nsv593623 CNV loss 21841781
nsv593624 CNV gain 21841781
nsv593625 CNV loss 21841781
nsv593626 CNV loss 21841781
nsv829851 CNV loss 17160897
nsv829852 CNV gain+loss 17160897
nsv949782 CNV deletion 24416366
nsv949783 CNV deletion 24416366
nsv954383 CNV deletion 24416366

Variation tolerance for ABLIM2 Gene

Residual Variation Intolerance Score: 48.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.80; 33.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABLIM2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABLIM2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABLIM2 Gene

Disorders for ABLIM2 Gene

Additional Disease Information for ABLIM2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ABLIM2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ABLIM2 Gene

Publications for ABLIM2 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  2. Two novel members of the ABLIM protein family, ABLIM-2 and -3, associate with STARS and directly bind F-actin. (PMID: 17194709) Barrientos T … Frey N (The Journal of biological chemistry 2007) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11347906) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 3 4 58

Products for ABLIM2 Gene

Sources for ABLIM2 Gene

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