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Aliases for KANK4 Gene

Aliases for KANK4 Gene

  • KN Motif And Ankyrin Repeat Domains 4 2 3 5
  • Ankyrin Repeat Domain-Containing Protein 38 3 4
  • Ankyrin Repeat Domain 38 2 3
  • ANKRD38 3 4
  • KN Motif And Ankyrin Repeat Domain-Containing Protein 4 3
  • Kidney Ankyrin Repeat-Containing Protein 4 3
  • DJ1078M7.1 3

External Ids for KANK4 Gene

Previous HGNC Symbols for KANK4 Gene

  • ANKRD38

Previous GeneCards Identifiers for KANK4 Gene

  • GC01M062474
  • GC01M062701
  • GC01M060814

Summaries for KANK4 Gene

GeneCards Summary for KANK4 Gene

KANK4 (KN Motif And Ankyrin Repeat Domains 4) is a Protein Coding gene. Diseases associated with KANK4 include Fuchs' Endothelial Dystrophy. An important paralog of this gene is KANK1.

UniProtKB/Swiss-Prot for KANK4 Gene

  • May be involved in the control of cytoskeleton formation by regulating actin polymerization.

Additional gene information for KANK4 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 KANK4 Gene

Genomics for KANK4 Gene

GeneHancer (GH) Regulatory Elements for KANK4 Gene

Promoters and enhancers for KANK4 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
GH01I062317 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 550.8 +0.5 520 2.1 SOX13 MXI1 FOXA2 SUZ12 ARID4B ZNF384 CEBPG POLR2A NR2F6 EZH2 KANK4 RNU6-371P
GH01I062287 Promoter 0.6 EPDnew 562.2 +32.1 32050 0.1 ZNF223 KANK4 GC01M062299 GC01M062237
GH01I062356 Enhancer 1.3 FANTOM5 Ensembl ENCODE 17.2 -37.3 -37286 0.6 ZNF493 ZFP64 INSM2 KLF17 ZEB1 ZNF155 ZNF213 ZNF366 ZNF143 FOS USP1 ENSG00000271200 TM2D1 DOCK7 KANK4 LOC105378768
GH01I062271 Enhancer 0.7 Ensembl ENCODE 17.7 +47.2 47207 1.3 CTCF MEIS2 ETV1 MAX FOXP2 ETV6 GABPA KANK4 RNU6-371P L1TD1 GC01M062299 GC01M062237
GH01I062285 Enhancer 1 Ensembl ENCODE 12.2 +32.8 32816 1.3 ELF3 FOXA2 ARID4B RAD21 RARA MXD4 ELF1 KAT8 TGIF2 SSRP1 KANK4 L1TD1 GC01M062299 GC01M062237
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KANK4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KANK4 gene promoter:

Genomic Locations for KANK4 Gene

Genomic Locations for KANK4 Gene
chr1:62,236,165-62,319,414
(GRCh38/hg38)
Size:
83,250 bases
Orientation:
Minus strand
chr1:62,701,837-62,785,085
(GRCh37/hg19)

Genomic View for KANK4 Gene

Genes around KANK4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KANK4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KANK4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KANK4 Gene

Proteins for KANK4 Gene

  • Protein details for KANK4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T7N3-KANK4_HUMAN
    Recommended name:
    KN motif and ankyrin repeat domain-containing protein 4
    Protein Accession:
    Q5T7N3
    Secondary Accessions:
    • B1ALP7
    • Q6P9A0
    • Q86T71
    • Q86VE6
    • Q8NAX3

    Protein attributes for KANK4 Gene

    Size:
    995 amino acids
    Molecular mass:
    107342 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for KANK4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KANK4 Gene

Post-translational modifications for KANK4 Gene

No data available for DME Specific Peptides for KANK4 Gene

Domains & Families for KANK4 Gene

Protein Domains for KANK4 Gene

Suggested Antigen Peptide Sequences for KANK4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KANK4: view

No data available for UniProtKB/Swiss-Prot for KANK4 Gene

Function for KANK4 Gene

Molecular function for KANK4 Gene

UniProtKB/Swiss-Prot Function:
May be involved in the control of cytoskeleton formation by regulating actin polymerization.

Phenotypes From GWAS Catalog for KANK4 Gene

genes like me logo Genes that share phenotypes with KANK4: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KANK4 Gene

Localization for KANK4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KANK4 Gene

Cytoplasm.

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 KANK4 gene
Compartment Confidence
cytosol 5
cytoskeleton 4
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Microtubules (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KANK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IDA --
GO:0015630 microtubule cytoskeleton IDA --
genes like me logo Genes that share ontologies with KANK4: view

Pathways & Interactions for KANK4 Gene

SuperPathways for KANK4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KANK4 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KANK4 Gene

Drugs & Compounds for KANK4 Gene

No Compound Related Data Available

Transcripts for KANK4 Gene

Unigene Clusters for KANK4 Gene

KN motif and ankyrin repeat domains 4:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KANK4 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b · 11c
SP1: - - - - -
SP2: - - -
SP3: - -
SP4:
SP5:
SP6: - -

Relevant External Links for KANK4 Gene

GeneLoc Exon Structure for
KANK4
ECgene alternative splicing isoforms for
KANK4

Expression for KANK4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KANK4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KANK4 Gene

This gene is overexpressed in Nerve - Tibial (x14.5), Pancreas (x7.5), Brain - Spinal cord (cervical c-1) (x6.3), and Brain - Substantia nigra (x5.1).

Protein differential expression in normal tissues from HIPED for KANK4 Gene

This gene is overexpressed in Pancreas (27.7), Adrenal (13.7), Fetal ovary (9.0), and Salivary gland (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KANK4 Gene



Protein tissue co-expression partners for KANK4 Gene

NURSA nuclear receptor signaling pathways regulating expression of KANK4 Gene:

KANK4

SOURCE GeneReport for Unigene cluster for KANK4 Gene:

Hs.283398

mRNA Expression by UniProt/SwissProt for KANK4 Gene:

Q5T7N3-KANK4_HUMAN
Tissue specificity: Strongly expressed in colon, liver, lung, skeletal muscle and kidney.

Evidence on tissue expression from TISSUES for KANK4 Gene

  • Kidney(4.2)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with KANK4: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KANK4 Gene

Orthologs for KANK4 Gene

This gene was present in the common ancestor of animals.

Orthologs for KANK4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KANK4 33 34
  • 98.36 (n)
dog
(Canis familiaris)
Mammalia KANK4 33 34
  • 85.58 (n)
cow
(Bos Taurus)
Mammalia KANK4 33 34
  • 83.22 (n)
rat
(Rattus norvegicus)
Mammalia Kank4 33
  • 78.82 (n)
mouse
(Mus musculus)
Mammalia Kank4 33 16 34
  • 78.63 (n)
oppossum
(Monodelphis domestica)
Mammalia KANK4 34
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KANK4 34
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves KANK4 33 34
  • 59.04 (n)
lizard
(Anolis carolinensis)
Reptilia KANK4 34
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kank4 33
  • 60.07 (n)
zebrafish
(Danio rerio)
Actinopterygii kank4 34
  • 25 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10249 34
  • 15 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea vab-19 34
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3164 34
  • 25 (a)
ManyToMany
-- 34
  • 10 (a)
ManyToMany
Species where no ortholog for KANK4 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)
  • 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 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)

Evolution for KANK4 Gene

ENSEMBL:
Gene Tree for KANK4 (if available)
TreeFam:
Gene Tree for KANK4 (if available)

Paralogs for KANK4 Gene

Paralogs for KANK4 Gene

(13) SIMAP similar genes for KANK4 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with KANK4: view

Variants for KANK4 Gene

Sequence variations from dbSNP and Humsavar for KANK4 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs145623004 uncertain-significance, not provided 62,263,230(-) A/G coding_sequence_variant, missense_variant
rs1000025060 -- 62,288,305(-) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000088070 -- 62,308,182(-) A/T genic_upstream_transcript_variant, intron_variant
rs1000095722 -- 62,259,582(-) T/G intron_variant
rs1000308234 -- 62,310,679(-) C/A/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for KANK4 Gene

Variant ID Type Subtype PubMed ID
esv2457868 CNV deletion 19546169
esv2660405 CNV deletion 23128226
esv3562982 CNV deletion 23714750
esv3562993 CNV deletion 23714750
esv3577900 CNV loss 25503493
esv3586233 CNV loss 21293372
esv3893601 CNV loss 25118596
nsv1122353 CNV deletion 24896259
nsv520333 CNV loss 19592680
nsv525191 CNV loss 19592680

Variation tolerance for KANK4 Gene

Residual Variation Intolerance Score: 89.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.31; 88.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KANK4 Gene

Human Gene Mutation Database (HGMD)
KANK4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KANK4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KANK4 Gene

Disorders for KANK4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KANK4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
fuchs' endothelial dystrophy
  • fced
- elite association - COSMIC cancer census association via MalaCards
Search KANK4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KANK4

genes like me logo Genes that share disorders with KANK4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KANK4 Gene

Publications for KANK4 Gene

  1. Kank proteins: a new family of ankyrin-repeat domain-containing proteins. (PMID: 17996375) Zhu Y … Kiyama R (Biochimica et biophysica acta 2008) 2 3 4 58
  2. Kank proteins: structure, functions and diseases. (PMID: 19554261) Kakinuma N … Kiyama R (Cellular and molecular life sciences : CMLS 2009) 2 3 58
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. 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

Products for KANK4 Gene

Sources for KANK4 Gene

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