KANK4 Gene (Protein Coding)

KN Motif And Ankyrin Repeat Domains 4

GC01M062236
GIFtS:
34
See more...

Aliases for KANK4 Gene

Aliases for KANK4 Gene

  • KN Motif And Ankyrin Repeat Domains 4 2 3 5
  • KN Motif And Ankyrin Repeat Domain-Containing Protein 4 3 4
  • Ankyrin Repeat Domain-Containing Protein 38 3 4
  • Ankyrin Repeat Domain 38 2 3
  • ANKRD38 3 4
  • Kidney Ankyrin Repeat-Containing Protein 4 3
  • DJ1078M7.1 3
  • KIAA0172 2
  • KANK4 5

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 Corneal Endothelial Dystrophy and Fuchs' Endothelial Dystrophy. An important paralog of this gene is KANK1.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for KANK4 Gene

Genomics for KANK4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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
GH01J062435 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.1 -118.2 -118197 5.3 TBP ZBTB10 MXD4 SP1 MNT IKZF1 SMAD5 HES1 MBD2 POLR2A USP1 lnc-DOCK7-8 KANK4 DOCK7 ATG4C MN308740 ANGPTL3
GH01J062317 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.5 540 2.1 CEBPA SMAD4 GABPB1 DMAP1 BCL6 FOXP1 CTCF HNF4A NR2F6 CEBPG KANK4 RF00026-044 RNU6-371P L1TD1
GH01J062356 Enhancer 1.2 FANTOM5 Ensembl ENCODE 18.5 -35.3 -35266 5.8 ZEB1 CEBPB ZNF623 EP300 ZNF433 TEAD3 SMC3 JUND FOSL1 ZNF143 USP1 TM2D1 KANK4 RNU6-371P DOCK7 ENSG00000271200 piR-61945-025 HSALNG0004060
GH01J062271 Enhancer 0.9 Ensembl ENCODE CraniofacialAtlas 17.7 +47.1 47069 2.9 CTCF GABPA MAX REST RCOR1 GATA2 NFIB MEIS2 SPI1 CHD2 KANK4 RNU6-371P L1TD1 RF00017-231 RF00026-044
GH01J062285 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas 12.2 +33.2 33169 2.5 MXD4 CEBPA ETS1 ZIC2 HOMEZ FOXA2 SMAD4 SAP130 ZSCAN9 ETV4 KANK4 L1TD1 RF00026-044 RNU6-371P RF00017-231
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KANK4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KANK4

Top Transcription factor binding sites by QIAGEN in the KANK4 gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • C/EBPalpha
  • E47
  • HEN1
  • Pax-5
  • RORalpha2
  • RSRFC4
  • TBP

Genomic Locations for KANK4 Gene

Latest Assembly
chr1:62,236,165-62,319,434
(GRCh38/hg38)
Size:
83,270 bases
Orientation:
Minus strand

Previous Assembly
chr1:62,701,837-62,785,105
(GRCh37/hg19 by Entrez Gene)
Size:
83,269 bases
Orientation:
Minus strand

chr1:62,702,651-62,785,085
(GRCh37/hg19 by Ensembl)
Size:
82,435 bases
Orientation:
Minus strand

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 Structure • Gene Density

RefSeq DNA sequence for KANK4 Gene

Proteins for KANK4 Gene

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  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • 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

Protein Expression for KANK4 Gene

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

Post-translational modifications for KANK4 Gene

  • Ubiquitination at Lys642
  • Modification sites at PhosphoSitePlus

Other Protein References for KANK4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KANK4 Gene

Domains & Families for KANK4 Gene

Gene Families for KANK4 Gene

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

Protein Domains for KANK4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KANK4 Gene

GenScript: Design optimal peptide antigens:
  • Kidney ankyrin repeat-containing protein 4 (B0I1P6_HUMAN)
  • Ankyrin repeat domain-containing protein 38 (KANK4_HUMAN)
genes like me logo Genes that share domains with KANK4: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KANK4 Gene

Function for KANK4 Gene

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  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
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  6. Cell Lines for research

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

Gene Ontology (GO) - Molecular Function for KANK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with KANK4: view
genes like me logo Genes that share phenotypes with KANK4: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KANK4

No data available for Enzyme Numbers (IUBMB) , 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
plasma membrane 1
extracellular 1
endoplasmic reticulum 1

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:0005737 cytoplasm IBA,IDA 25961457
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton IBA 21873635
GO:0015630 microtubule cytoskeleton IDA --
genes like me logo Genes that share ontologies with KANK4: view

Pathways & Interactions for KANK4 Gene

PathCards logo

SuperPathways for KANK4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KANK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030837 negative regulation of actin filament polymerization IBA 21873635
genes like me logo Genes that share ontologies with KANK4: view

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

Drugs & Compounds for KANK4 Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for KANK4 Gene

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  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for KANK4 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
4 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 KANK4

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

Expression for KANK4 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 KANK4 Gene

mRNA expression in normal human tissues for KANK4 Gene
mRNA expression by BioGPS for KANK4 GenemRNA expression by GTEx 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, MaxQB, and MOPED for KANK4 Gene



Protein tissue co-expression partners for KANK4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.4)
  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with KANK4: view

Primer products for research

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 30 31
  • 98.36 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia KANK4 30 31
  • 85.58 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia KANK4 30 31
  • 83.22 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Kank4 30
  • 78.82 (n)
Mouse
(Mus musculus)
 Mammalia Kank4 30 17 31
  • 78.63 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia KANK4 31
  • 63 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia KANK4 31
  • 44 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves KANK4 30 31
  • 59.04 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia KANK4 31
  • 49 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia kank4 30
  • 60.07 (n)
Zebrafish
(Danio rerio)
 Actinopterygii kank4 31
  • 25 (a)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta CG10249 31
  • 15 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea vab-19 31
  • 18 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.3164 31
  • 25 (a)
 ManyToMany
-- 31
  • 10 (a)
 ManyToMany
Species where no ortholog for KANK4 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)
  • 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for KANK4: view image

Paralogs for KANK4 Gene

Paralogs for KANK4 Gene

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

  • KANK4_HUMAN
  • B1ALP5_HUMAN
  • B1ALP6_HUMAN
genes like me logo Genes that share paralogs with KANK4: view

Variants for KANK4 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KANK4 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs111413521 Benign: not provided 62,273,554(-) C/T
NM_181712.5(KANK4):c.1550G>A (p.Arg517Lys) 		MISSENSE_VARIANT,INTRON
rs112048152 Benign: not provided 62,273,875(-) G/A
NM_181712.5(KANK4):c.1229C>T (p.Thr410Met) 		MISSENSE_VARIANT,INTRON
rs145623004 Uncertain Significance: not provided. - 62,263,230(-) A/Gp.Tyr801His
NM_181712.5(KANK4):c.2401T>C (p.Tyr801His) 		MISSENSE
rs150098757 Likely Benign: not provided 62,273,870(-) C/T
NM_181712.5(KANK4):c.1234G>A (p.Val412Met) 		MISSENSE_VARIANT,INTRON
rs370065609 Uncertain Significance: not provided 62,273,762(-) G/A
NM_181712.5(KANK4):c.1342C>T (p.Arg448Ter) 		NONSENSE,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KANK4 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 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

SNP Genotyping and Copy Number Assays for research

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

Disorders for KANK4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for KANK4 Gene - From: COP

- 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

Genetic Association Database
(GAD)
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 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
  2. KANK deficiency leads to podocyte dysfunction and nephrotic syndrome. (PMID: 25961457) Gee HY … Hildebrandt F (The Journal of clinical investigation 2015) 3 4
  3. Kank proteins: structure, functions and diseases. (PMID: 19554261) Kakinuma N … Kiyama R (Cellular and molecular life sciences : CMLS 2009) 2 3
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

ExternalLinks

View latest publications for KANK4 gene in Mastermind

Products for KANK4 Gene

Sources for KANK4 Gene