Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KPTN Gene

Aliases for KPTN Gene

  • Kaptin (Actin Binding Protein) 2 3
  • Actin-Associated Protein 2E4 3 4
  • MRT41 3 6
  • 2E4 3 6
  • Kaptin (Actin-Binding Protein) 2
  • Kaptin 3

External Ids for KPTN Gene

Previous GeneCards Identifiers for KPTN Gene

  • GC19M048625
  • GC19M048369
  • GC19M052654
  • GC19M052670
  • GC19M052657
  • GC19M047978
  • GC19M044406

Summaries for KPTN Gene

Entrez Gene Summary for KPTN Gene

  • This gene encodes a filamentous-actin-associated protein, which is involved in actin dynamics and plays an important role in neuromorphogenesis. Mutations in this gene result in recessive mental retardation-41. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]

GeneCards Summary for KPTN Gene

KPTN (Kaptin (Actin Binding Protein)) is a Protein Coding gene. Diseases associated with KPTN include mental retardation, autosomal recessive 41 and macrocephaly-developmental delay syndrome. GO annotations related to this gene include actin binding.

UniProtKB/Swiss-Prot for KPTN Gene

  • Necessary for normal neuromorphogenesis. May be involved in actin dynamics. May play a role in producing the sensory apparatus in hair cells. May play a role in actin rearrangements that accompany platelet activation and stereocilia formation.

Gene Wiki entry for KPTN Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KPTN Gene

Genomics for KPTN Gene

Regulatory Elements for KPTN Gene

Genomic Location for KPTN Gene

Start:
47,475,141 bp from pter
End:
47,484,268 bp from pter
Size:
9,128 bases
Orientation:
Minus strand

Genomic View for KPTN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KPTN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KPTN Gene

Proteins for KPTN Gene

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

    Protein Symbol:
    Q9Y664-KPTN_HUMAN
    Recommended name:
    Kaptin
    Protein Accession:
    Q9Y664
    Secondary Accessions:
    • B3KN86
    • B4DQ76
    • Q96GT1

    Protein attributes for KPTN Gene

    Size:
    436 amino acids
    Molecular mass:
    48080 Da
    Quaternary structure:
    • Associates with one end of F-actin filaments
    SequenceCaution:
    • Sequence=AAD39358.1; Type=Frameshift; Positions=8, 14, 410, 419; Evidence={ECO:0000305};

    Alternative splice isoforms for KPTN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KPTN Gene

Proteomics data for KPTN Gene at MOPED

Post-translational modifications for KPTN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KPTN Gene

No data available for DME Specific Peptides for KPTN Gene

Domains for KPTN Gene

Protein Domains for KPTN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KPTN Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for Gene Families and UniProtKB/Swiss-Prot for KPTN Gene

Function for KPTN Gene

Molecular function for KPTN Gene

UniProtKB/Swiss-Prot Function: Necessary for normal neuromorphogenesis. May be involved in actin dynamics. May play a role in producing the sensory apparatus in hair cells. May play a role in actin rearrangements that accompany platelet activation and stereocilia formation.

Gene Ontology (GO) - Molecular Function for KPTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
genes like me logo Genes that share ontologies with KPTN: view
genes like me logo Genes that share phenotypes with KPTN: view

Animal Model Products

CRISPR Products

miRNA for KPTN Gene

miRTarBase miRNAs that target KPTN

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KPTN

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for KPTN Gene

Localization for KPTN Gene

Subcellular locations from UniProtKB/Swiss-Prot for KPTN Gene

Cytoplasm. Cytoplasm, perinuclear region. Cell projection, stereocilium. Cell projection, growth cone. Note=Perinuclear at the tips of stereocilium in the inner ear. Localized at sites of actin polymerization in motile fibroblasts and neuronal growth cones.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KPTN Gene COMPARTMENTS Subcellular localization image for KPTN gene
Compartment Confidence
cytoskeleton 4
nucleus 4
cytosol 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for KPTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 1372044
GO:0005737 cytoplasm --
GO:0005815 microtubule organizing center TAS 1372044
GO:0015629 actin cytoskeleton IEA --
GO:0030426 growth cone IEA --
genes like me logo Genes that share ontologies with KPTN: view

Pathways for KPTN Gene

SuperPathways for KPTN Gene

No Data Available

Gene Ontology (GO) - Biological Process for KPTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006928 movement of cell or subcellular component TAS 10099934
GO:0007015 actin filament organization IEA --
GO:0007605 sensory perception of sound NAS 10099934
genes like me logo Genes that share ontologies with KPTN: view

No data available for Pathways by source for KPTN Gene

Transcripts for KPTN Gene

Unigene Clusters for KPTN Gene

Kaptin (actin binding protein):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KPTN

Primer Products

Flow Cytometry Products

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

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14
SP1: - - -
SP2: - - - - -
SP3: - - - - -
SP4:
SP5: - -

Relevant External Links for KPTN Gene

GeneLoc Exon Structure for
KPTN
ECgene alternative splicing isoforms for
KPTN

Expression for KPTN Gene

mRNA expression in normal human tissues for KPTN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for KPTN Gene

SOURCE GeneReport for Unigene cluster for KPTN Gene Hs.25441

genes like me logo Genes that share expressions with KPTN: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for KPTN Gene

Orthologs for KPTN Gene

This gene was present in the common ancestor of chordates.

Orthologs for KPTN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KPTN 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KPTN 35
  • 89.14 (n)
  • 91.51 (a)
KPTN 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KPTN 35
  • 90.52 (n)
  • 93.12 (a)
KPTN 36
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kptn 35
  • 84.19 (n)
  • 88.84 (a)
Kptn 16
Kptn 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KPTN 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KPTN 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KPTN 36
  • 63 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.25661 35
tropical clawed frog
(Silurana tropicalis)
Amphibia kptn 35
  • 72.81 (n)
  • 78.72 (a)
Str.12230 35
zebrafish
(Danio rerio)
Actinopterygii kptn 35
  • 62.6 (n)
  • 63.61 (a)
kptn 36
  • 59 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 30 (a)
OneToOne
Species with no ortholog for KPTN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 KPTN Gene

ENSEMBL:
Gene Tree for KPTN (if available)
TreeFam:
Gene Tree for KPTN (if available)

Paralogs for KPTN Gene

No data available for Paralogs for KPTN Gene

Variants for KPTN Gene

Sequence variations from dbSNP and Humsavar for KPTN Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs1046273 -- 47,475,482(-) CAGAG(A/G)AGACG synonymous-codon, reference, nc-transcript-variant
rs2272295 -- 47,475,414(-) TTAAG(C/T)ACCCA utr-variant-3-prime, nc-transcript-variant
rs2293424 -- 47,476,896(-) CTGCC(C/T)GGCAG reference, synonymous-codon, nc-transcript-variant
rs3745174 -- 47,477,747(+) AGCAC(A/G)CTGTA reference, synonymous-codon, nc-transcript-variant
rs10410138 -- 47,475,997(+) aacaa(A/C)caaaa intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1107e1 CNV Complex 17122850
nsv428366 CNV Loss 18775914
nsv912202 CNV Loss 21882294

Relevant External Links for KPTN Gene

HapMap Linkage Disequilibrium report
KPTN
Human Gene Mutation Database (HGMD)
KPTN

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

Disorders for KPTN Gene

(1) OMIM Diseases for KPTN Gene (615620)

UniProtKB/Swiss-Prot

KPTN_HUMAN
  • Mental retardation, autosomal recessive 41 (MRT41) [MIM:615637]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT41 most consistent features are global developmental delay, macrocephaly with frontal bossing, high levels of anxiety, and some features suggestive of a pervasive developmental disorder. Less common features include fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly. {ECO:0000269 PubMed:24239382}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with KPTN: view

Publications for KPTN Gene

  1. 2E4 (kaptin): a novel actin-associated protein from human blood platelets found in lamellipodia and the tips of the stereocilia of the inner ear. (PMID: 10099934) Bearer E.L. … Abraham M.T. (Eur. J. Cell Biol. 1999) 2 3 4 23
  2. 2E4/Kaptin (KPTN) - a candidate gene for the hearing loss loci, DFNA4. (PMID: 11409409) Bearer E.L. … Jackson C.L. (Ann. Hum. Genet. 2000) 3 4 23
  3. Actin dynamics in platelets. (PMID: 12019562) Bearer E.L. … Li Z. (Int. Rev. Cytol. 2002) 3 23
  4. An actin-associated protein present in the microtubule organizing center and the growth cones of PC-12 cells. (PMID: 1372044) Bearer E.L. (J. Neurosci. 1992) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for KPTN Gene

Sources for KPTN Gene

Back to Top

Content