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Aliases for KPTN Gene

Aliases for KPTN Gene

  • Kaptin, Actin Binding Protein 2 3 5
  • Actin-Associated Protein 2E4 3 4
  • Kaptin (Actin-Binding Protein) 2
  • Kaptin 3
  • MRT41 3
  • 2E4 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 Pervasive Developmental Disorder. 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

Enhancers for KPTN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F047509 1.8 FANTOM5 Ensembl ENCODE 7.3 -26.2 -26152 7.1 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A ZNF2 YY1 ZNF143 CCDC9 KDELR1 ZC3H4 GLTSCR2-AS1 GRWD1 SLC1A5 SNORD23 CYTH2 KPTN NAPA
GH19F047607 1.4 Ensembl ENCODE 5.8 -124.3 -124296 6.9 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 FOS ENSG00000269321 CCDC9 KDELR1 TPRX2P ELSPBP1 ZNF541 LOC105372430 GLTSCR2-AS1 ZC3H4 GRWD1
GH19F047728 1 ENCODE 8.1 -242.9 -242868 3.1 PKNOX1 ARID4B SIN3A GLI4 ZNF2 GLIS2 ELK1 GATA2 FOS SP3 CCDC9 SELENOW CABP5 C5AR2 LIG1 GLTSCR2 KPTN PIR33748 GC19M047700
GH19F047506 1.1 Ensembl ENCODE 7.3 -20.5 -20508 2.3 CTCF ATF1 ZIC2 RAD21 ZNF155 ZEB1 ZFHX2 RBAK ZNF157 ZNF239 GLTSCR1 ZC3H4 GRWD1 ZNF541 GLTSCR2-AS1 KPTN TMEM143 NAPA ENSG00000279861
GH19F047721 1.2 Ensembl ENCODE 6.6 -236.6 -236554 2.9 ATF1 NFXL1 FEZF1 ZEB1 GLIS2 ZNF366 SCRT2 CREM EGR2 SMARCA5 SELENOW KPTN PIR33748 EHD2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KPTN on UCSC Golden Path with GeneCards custom track

Genomic Location for KPTN Gene

Chromosome:
19
Start:
47,475,141 bp from pter
End:
47,486,791 bp from pter
Size:
11,651 bases
Orientation:
Minus strand

Genomic View for KPTN Gene

Genes around KPTN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KPTN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for KPTN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for KPTN
  • Santa Cruz Biotechnology (SCBT) Antibodies for KPTN

No data available for DME Specific Peptides for KPTN Gene

Domains & Families 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

Human Phenotype Ontology for KPTN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KPTN Gene

MGI Knock Outs for KPTN:
  • Kptn tm1a(EUCOMM)Wtsi

Animal Model Products

miRNA for KPTN Gene

miRTarBase miRNAs that target KPTN

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
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 KPTN gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 3
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 IEA --
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 & Interactions 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 and SIGNOR curated interactions for KPTN Gene

Transcripts for KPTN Gene

Unigene Clusters for KPTN Gene

Kaptin (actin binding protein):
Representative Sequences:

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and SAGE for KPTN Gene

Protein differential expression in normal tissues from HIPED for KPTN Gene

This gene is overexpressed in Ovary (49.5) and Islet of Langerhans (15.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KPTN Gene



Protein tissue co-expression partners for KPTN Gene

NURSA nuclear receptor signaling pathways regulating expression of KPTN Gene:

KPTN

SOURCE GeneReport for Unigene cluster for KPTN Gene:

Hs.25441
genes like me logo Genes that share expression patterns with KPTN: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KPTN 34 35
  • 90.52 (n)
cow
(Bos Taurus)
Mammalia KPTN 34 35
  • 89.14 (n)
mouse
(Mus musculus)
Mammalia Kptn 34 16 35
  • 84.19 (n)
oppossum
(Monodelphis domestica)
Mammalia KPTN 35
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KPTN 35
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KPTN 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kptn 34
  • 72.81 (n)
Str.12230 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.25661 34
zebrafish
(Danio rerio)
Actinopterygii kptn 34 35
  • 62.6 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 30 (a)
OneToOne
Species where no ortholog for KPTN was found in the sources mined by GeneCards:
  • 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
rs374298314 Pathogenic 47,479,874(+) CGGCC(A/G/T)AGAGG nc-transcript-variant, reference, missense, stop-gained
rs587777148 Pathogenic 47,479,936(+) GCAGA(-/ACCGACCACATCTGCAGA)ACCTC nc-transcript-variant, cds-indel
rs142867197 Uncertain significance 47,483,973(+) CTGGC(C/T)GGATT nc-transcript-variant, upstream-variant-2KB, reference, missense
rs10410138 -- 47,475,997(+) aacaa(A/C)caaaa intron-variant
rs10413780 -- 47,485,305(+) cagtt(G/T)agaga intron-variant, upstream-variant-2KB, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
esv2758765 CNV loss 17122850
nsv1056887 CNV gain 25217958
nsv1143921 CNV deletion 24896259
nsv428366 CNV loss 18775914
nsv579888 CNV gain 21841781

Variation tolerance for KPTN Gene

Residual Variation Intolerance Score: 42.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.98; 36.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KPTN Gene

Human Gene Mutation Database (HGMD)
KPTN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KPTN

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

Disorders for KPTN Gene

MalaCards: The human disease database

(2) MalaCards diseases for KPTN Gene - From: OMIM, ClinVar, GeneTests, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal recessive 41
  • macrocephaly-developmental delay syndrome
pervasive developmental disorder
  • pervasive development disorder
- elite association - COSMIC cancer census association via MalaCards
Search KPTN in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for KPTN

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KPTN
genes like me logo Genes that share disorders with KPTN: view

No data available for Genatlas for KPTN Gene

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 22 64
  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 22 64
  3. Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures. (PMID: 24239382) Baple E.L. … Crosby A.H. (Am. J. Hum. Genet. 2014) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for KPTN Gene

Sources for KPTN Gene

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