NCKAP5 Gene (Protein Coding)

NCK Associated Protein 5

GC02M132671
GIFtS:
33
See more...

Aliases for NCKAP5 Gene

Aliases for NCKAP5 Gene

  • NCK Associated Protein 5 2 3 5
  • NAP5 2 3 4
  • Peripheral Clock Protein 2 4
  • Nck-Associated Protein 5 3 4
  • ERIH1 2 3
  • ERIH2 2 3
  • NAP-5 3 4
  • Peripheral Clock Protein 2 3
  • NCKAP5 5
  • ERIH 4

External Ids for NCKAP5 Gene

Previous GeneCards Identifiers for NCKAP5 Gene

  • GC02M133146
  • GC02M133429
  • GC02M125422

Summaries for NCKAP5 Gene

GeneCards Summary for NCKAP5 Gene

NCKAP5 (NCK Associated Protein 5) is a Protein Coding gene. Diseases associated with NCKAP5 include Attention Deficit-Hyperactivity Disorder. An important paralog of this gene is NCKAP5L.

Additional gene information for NCKAP5 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NCKAP5 Gene

Genomics for NCKAP5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for NCKAP5 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
GH02J133566 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE CraniofacialAtlas 255.6 +107.5 107468 2.3 RXRA SIN3A RAD21 JUND ZBTB40 HNF4A FOXA1 REST MAX SP1 NCKAP5 ENSG00000223430 lnc-MGAT5-5 LYPD1
GH02J133673 Promoter/Enhancer 1.5 EPDnew FANTOM5 ENCODE CraniofacialAtlas 250.7 -0.2 -221 3.5 ZSCAN16 FEZF1 ZIC2 CEBPB SIN3A FOXA2 ZNF639 EP300 RXRA ZBTB33 NCKAP5 HSALNG0018999 MGAT5
GH02J133640 Promoter/Enhancer 1 EPDnew ENCODE 250.3 +33.4 33445 1.9 ZNF217 CTCF ELF1 MBD2 CUX1 RAD21 CTBP1 SIN3A SMARCE1 MAZ NCKAP5 HSALNG0018998 LYPD1
GH02J133492 Enhancer 0.8 ENCODE dbSUPER 16.6 +182.2 182179 1 ZNF217 MBD2 CTBP1 SMARCE1 FOXA1 PKNOX1 RAD51 DPF2 NCOA3 HNF4A NCKAP5 piR-48799-058 ENSG00000223430 LYPD1
GH02J133633 Enhancer 0.7 Ensembl ENCODE 10.9 +41.1 41081 1 ZNF843 TCF7L2 SP7 ZXDB ZNF629 ZNF692 CEBPB NCKAP5 HSALNG0018998 LYPD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NCKAP5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NCKAP5

Genomic Locations for NCKAP5 Gene

Latest Assembly
chr2:132,671,788-133,675,182
(GRCh38/hg38)
Size:
1,003,395 bases
Orientation:
Minus strand

Previous Assembly
chr2:133,429,361-134,326,034
(GRCh37/hg19 by Entrez Gene)
Size:
896,674 bases
Orientation:
Minus strand

chr2:133,429,374-134,326,034
(GRCh37/hg19 by Ensembl)
Size:
896,661 bases
Orientation:
Minus strand

Genomic View for NCKAP5 Gene

Genes around NCKAP5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NCKAP5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NCKAP5 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for NCKAP5 Gene

Proteins for NCKAP5 Gene

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  • Protein details for NCKAP5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14513-NCKP5_HUMAN
    Recommended name:
    Nck-associated protein 5
    Protein Accession:
    O14513
    Secondary Accessions:
    • B8ZZL0
    • Q29SS9
    • Q29ST0
    • Q2NL90
    • Q6ZVE2
    • Q8NAS3

    Protein attributes for NCKAP5 Gene

    Size:
    1909 amino acids
    Molecular mass:
    208537 Da
    Quaternary structure:
    • Interacts with the SH3-containing region of the adapter protein NCK.
    SequenceCaution:
    • Sequence=BAA22433.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAC85920.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for NCKAP5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NCKAP5 Gene

Protein Expression for NCKAP5 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for NCKAP5 Gene

  • Glycosylation at Asn585
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • NCKP5_HUMAN (758)

Other Protein References for NCKAP5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NCKAP5 Gene

Domains & Families for NCKAP5 Gene

Gene Families for NCKAP5 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for NCKAP5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NCKAP5 Gene

GenScript: Design optimal peptide antigens:
  • Peripheral clock protein (NCKP5_HUMAN)
genes like me logo Genes that share domains with NCKAP5: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for NCKAP5 Gene

Function for NCKAP5 Gene

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  6. Cell Lines for research

Phenotypes From GWAS Catalog for NCKAP5 Gene

genes like me logo Genes that share phenotypes with NCKAP5: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NCKAP5

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NCKAP5 Gene

Localization for NCKAP5 Gene

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 NCKAP5 gene
Compartment Confidence
cytoskeleton 3
nucleus 3
cytosol 3
plasma membrane 2
golgi apparatus 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Nucleoli (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NCKAP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0035371 microtubule plus-end IBA 21873635
genes like me logo Genes that share ontologies with NCKAP5: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for NCKAP5 Gene

Pathways & Interactions for NCKAP5 Gene

PathCards logo

SuperPathways for NCKAP5 Gene

No Data Available

Interacting Proteins for NCKAP5 Gene

STRING Interaction Network Preview (showing top 2 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000387128 O14513-NCKP5_HUMAN for NCKAP5 Gene via STRING IID

GPS-Prot Interaction Network for NCKAP5

Gene Ontology (GO) - Biological Process for NCKAP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001578 microtubule bundle formation IBA 21873635
GO:0007019 microtubule depolymerization IBA 21873635
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with NCKAP5: view

No data available for Pathways by source and SIGNOR curated interactions for NCKAP5 Gene

Drugs & Compounds for NCKAP5 Gene

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No Compound Related Data Available

Transcripts for NCKAP5 Gene

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mRNA/cDNA for NCKAP5 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NCKAP5

Alternative Splicing Database (ASD) splice patterns (SP) for NCKAP5 Gene

No ASD Table

Relevant External Links for NCKAP5 Gene

GeneLoc Exon Structure for
NCKAP5

Expression for NCKAP5 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NCKAP5 Gene

mRNA expression in normal human tissues for NCKAP5 Gene
mRNA expression by GTEx for NCKAP5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NCKAP5 Gene

This gene is overexpressed in Lung (x4.2).

Protein differential expression in normal tissues from HIPED for NCKAP5 Gene

This gene is overexpressed in Cerebrospinal fluid (65.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NCKAP5 Gene



Protein tissue co-expression partners for NCKAP5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NCKAP5

SOURCE GeneReport for Unigene cluster for NCKAP5 Gene:

Hs.537329

mRNA Expression by UniProt/SwissProt for NCKAP5 Gene:

O14513-NCKP5_HUMAN
Tissue specificity: Expressed in fetal and adult brain, leukocytes and fetal fibroblasts.

Evidence on tissue expression from TISSUES for NCKAP5 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with NCKAP5: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for NCKAP5 Gene

Orthologs for NCKAP5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NCKAP5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia NCKAP5 30
  • 97.23 (n)
Dog
(Canis familiaris)
 Mammalia NCKAP5 30 31
  • 84.03 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia NCKAP5 30 31
  • 82.68 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Nckap5 30
  • 75.71 (n)
Mouse
(Mus musculus)
 Mammalia Nckap5 30 17 31
  • 75.51 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia NCKAP5 31
  • 58 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves NCKAP5 30 31
  • 63.13 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia NCKAP5 31
  • 42 (a)
 OneToOne
Species where no ortholog for NCKAP5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for NCKAP5 Gene

ENSEMBL:
Gene Tree for NCKAP5 (if available)
TreeFam:
Gene Tree for NCKAP5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NCKAP5: view image

Paralogs for NCKAP5 Gene

Paralogs for NCKAP5 Gene

genes like me logo Genes that share paralogs with NCKAP5: view

Variants for NCKAP5 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NCKAP5 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs111861429 Likely Benign: not provided 132,781,095(-) T/A
NM_207363.3(NCKAP5):c.5006A>T (p.Asn1669Ile) 		MISSENSE_VARIANT,INTRON
rs116732206 Benign: not provided 132,731,761(-) G/A
NM_207363.3(NCKAP5):c.5419C>T (p.Arg1807Cys) 		MISSENSE
rs141515246 Benign: not provided 132,868,942(-) A/T
NM_207363.3(NCKAP5):c.681T>A (p.Thr227=) 		SYNONYMOUS
rs142356779 Likely Benign: not provided 132,785,515(-) C/G
NM_207363.3(NCKAP5):c.1296G>C (p.Ser432=) 		SYNONYMOUS_VARIANT,INTRON
rs147993981 Likely Benign: not provided 132,784,431(-) T/C
NM_207363.3(NCKAP5):c.2380A>G (p.Ile794Val) 		MISSENSE_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NCKAP5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NCKAP5 Gene

Variant ID Type Subtype PubMed ID
dgv2043n106 CNV deletion 24896259
dgv7087n54 CNV loss 21841781
dgv733e199 CNV deletion 23128226
dgv737e214 CNV loss 21293372
esv2340909 CNV deletion 18987734
esv2592119 CNV deletion 19546169
esv26071 CNV loss 19812545
esv2656964 CNV deletion 23128226
esv2664567 CNV deletion 23128226
esv2670272 CNV deletion 23128226
esv2675555 CNV deletion 23128226
esv2677288 CNV deletion 23128226
esv2677357 CNV deletion 23128226
esv2677853 CNV deletion 23128226
esv2720835 CNV deletion 23290073
esv2720836 CNV deletion 23290073
esv2720837 CNV deletion 23290073
esv2760570 CNV loss 21179565
esv3305472 CNV mobile element insertion 20981092
esv3323400 CNV insertion 20981092
esv3330261 CNV insertion 20981092
esv3330609 CNV insertion 20981092
esv3418218 CNV insertion 20981092
esv3560159 CNV deletion 23714750
esv3560161 CNV deletion 23714750
esv3584084 CNV loss 25503493
esv3592514 CNV loss 21293372
esv3592515 CNV loss 21293372
esv3592516 CNV loss 21293372
esv3592517 CNV loss 21293372
esv3592519 CNV loss 21293372
esv3592520 CNV loss 21293372
esv3592521 CNV loss 21293372
esv3592522 CNV loss 21293372
esv3592525 CNV gain 21293372
esv3592528 CNV loss 21293372
esv3592531 CNV loss 21293372
esv3592532 CNV loss 21293372
esv3592533 CNV loss 21293372
esv3592536 CNV loss 21293372
esv3893392 CNV loss 25118596
esv3893403 CNV loss 25118596
esv3903 CNV loss 18987735
esv4378 OTHER complex 18987735
esv7088 CNV loss 19470904
esv8474 CNV loss 19470904
esv998316 CNV deletion 20482838
nsv1001601 CNV loss 25217958
nsv1002197 CNV loss 25217958
nsv1003964 CNV loss 25217958
nsv1004604 CNV loss 25217958
nsv1008965 CNV loss 25217958
nsv1011100 CNV loss 25217958
nsv1011421 CNV gain 25217958
nsv1014718 CNV loss 25217958
nsv1071623 CNV deletion 25765185
nsv1151063 CNV duplication 26484159
nsv1153057 CNV deletion 26484159
nsv1153098 CNV duplication 26484159
nsv1160868 CNV duplication 26073780
nsv2931 CNV deletion 18451855
nsv2933 CNV insertion 18451855
nsv441785 CNV loss 18776908
nsv459452 CNV loss 19166990
nsv459463 CNV loss 19166990
nsv470487 CNV loss 18288195
nsv472188 CNV novel sequence insertion 20440878
nsv476070 CNV novel sequence insertion 20440878
nsv507034 OTHER sequence alteration 20534489
nsv508871 CNV insertion 20534489
nsv516644 CNV gain+loss 19592680
nsv516915 CNV gain 19592680
nsv521538 CNV loss 19592680
nsv522324 CNV loss 19592680
nsv526139 CNV loss 19592680
nsv528037 CNV gain 19592680
nsv583152 CNV gain 21841781
nsv583158 CNV gain 21841781
nsv583159 CNV loss 21841781
nsv583165 CNV loss 21841781
nsv583166 CNV loss 21841781
nsv583167 CNV loss 21841781
nsv583168 CNV loss 21841781
nsv821729 CNV loss 20364138
nsv834379 CNV gain 17160897
nsv834381 CNV gain 17160897
nsv834382 CNV loss 17160897
nsv834383 CNV loss 17160897
nsv834384 CNV gain 17160897

Variation tolerance for NCKAP5 Gene

Residual Variation Intolerance Score: 97.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 19.33; 98.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NCKAP5 Gene

Human Gene Mutation Database (HGMD)
NCKAP5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NCKAP5

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NCKAP5 Gene

Disorders for NCKAP5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NCKAP5 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
attention deficit-hyperactivity disorder
  • adhd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NCKAP5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with NCKAP5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NCKAP5 Gene

Publications for NCKAP5 Gene

  1. A novel ligand for an SH3 domain of the adaptor protein Nck bears an SH2 domain and nuclear signaling motifs. (PMID: 9344857) Matuoka K … Takenawa T (Biochemical and biophysical research communications 1997) 2 3 4
  2. A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma. (PMID: 22419738) Osman W … Nakamura Y (Human molecular genetics 2012) 3 41
  3. A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. (PMID: 20889312) Wang KS … Aragam N (Schizophrenia research 2010) 3 41
  4. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PMID: 19010793) Baranzini SE … Oksenberg JR (Human molecular genetics 2009) 3 41
  5. Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations. (PMID: 18821565) Lasky-Su J … Faraone SV (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008) 3 41

ExternalLinks

View latest publications for NCKAP5 gene in Mastermind

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