Aliases for TANC2 Gene

Aliases for TANC2 Gene

  • Tetratricopeptide Repeat, Ankyrin Repeat And Coiled-Coil Containing 2 2 3 5
  • Tetratricopeptide Repeat, Ankyrin Repeat And Coiled-Coil Domain-Containing Protein 2 3 4
  • Protein TANC2 3 4
  • KIAA1148 2 4
  • KIAA1636 2 4
  • ROLSA 2 3
  • Rols 2 3
  • Putative Ankyrin-Repeat Containing Protein 3
  • Rolling Pebbles Homolog B (Drosophila) 2
  • Rolling Pebbles Homolog B 3
  • DKFZP564D166 2
  • FLJ10215 2
  • FLJ11824 2
  • IDDALDS 3
  • TANC2 5

External Ids for TANC2 Gene

Previous GeneCards Identifiers for TANC2 Gene

  • GC17P058397
  • GC17P058625
  • GC17P061086
  • GC17P056455

Summaries for TANC2 Gene

GeneCards Summary for TANC2 Gene

TANC2 (Tetratricopeptide Repeat, Ankyrin Repeat And Coiled-Coil Containing 2) is a Protein Coding gene. Diseases associated with TANC2 include Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures and Angular Cheilitis. An important paralog of this gene is TANC1.

UniProtKB/Swiss-Prot Summary for TANC2 Gene

  • Scaffolding protein in the dendritic spines which acts as immobile postsynaptic posts able to recruit KIF1A-driven dense core vesicles to dendritic spines.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TANC2 Gene

Genomics for TANC2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TANC2 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
GH17J062964 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 607.6 +0.8 790 4.4 GATAD2A CTCF PRDM10 ZNF629 LEF1 ZNF692 ZNF174 JUND FOXA1 ZNF143 TANC2 ENSG00000283538 CYB561 TLK2 DDX42 ENSG00000265971
GH17J063189 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 600.1 +225.3 225266 5.4 ZNF501 JUND NFE2 ZNF316 MAFG ZNF195 MAFK SPI1 ATF3 NFXL1 TANC2 CYB561 DDX42 DNAJB6P8 lnc-ACE-3 piR-57134-050 ENSG00000233635
GH17J062818 Enhancer 1.5 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 7 -144.0 -144000 7.4 CEBPG CREB1 ZBTB33 ARID3A ATF7 YBX1 PRDM10 ZNF629 TARDBP ZHX2 TANC2 MARCHF10 MARCHF10-DT PRELID3BP3
GH17J062986 Enhancer 0.7 Ensembl ENCODE 12.5 +20.5 20487 1.3 CTCF TARDBP SMARCA5 ZNF444 YY1 ZNF143 RAD21 TRIM22 TANC2 MIR633 MRC2 CYB561 ENSG00000265971 ENSG00000270324 RF00017-2497 lnc-MARCH10-7
GH17J063149 Promoter/Enhancer 1.3 ENCODE CraniofacialAtlas 5.4 +185.8 185775 4.5 PRDM10 ZNF629 RFX1 PRDM1 ZSCAN4 PATZ1 ZNF600 SCRT2 ZBTB44 ZNF512B CYB561 TANC2 ENSG00000264513 lnc-ACE-3 DNAJB6P8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TANC2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TANC2

Top Transcription factor binding sites by QIAGEN in the TANC2 gene promoter:
  • FOXJ2
  • FOXJ2 (long isoform)
  • Nkx2-2
  • Pbx1a
  • RORalpha1
  • RORalpha2
  • SRF
  • SRF (504 AA)
  • TBP
  • TFIID

Genomic Locations for TANC2 Gene

Genomic Locations for TANC2 Gene
chr17:62,966,235-63,427,706
(GRCh38/hg38)
Size:
461,472 bases
Orientation:
Plus strand
chr17:61,086,898-61,505,067
(GRCh37/hg19)
Size:
418,170 bases
Orientation:
Plus strand

Genomic View for TANC2 Gene

Genes around TANC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TANC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TANC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TANC2 Gene

Proteins for TANC2 Gene

  • Protein details for TANC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HCD6-TANC2_HUMAN
    Recommended name:
    Protein TANC2
    Protein Accession:
    Q9HCD6
    Secondary Accessions:
    • Q9HAC3
    • Q9NW88
    • Q9NXY9
    • Q9ULS2

    Protein attributes for TANC2 Gene

    Size:
    1990 amino acids
    Molecular mass:
    219650 Da
    Quaternary structure:
    • Interacts with KIF1A; the interaction decreases in presence of calcium.
    SequenceCaution:
    • Sequence=CAB92314.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAB92314.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for TANC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TANC2 Gene

Post-translational modifications for TANC2 Gene

  • Glycosylation at Asn1928
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TANC2 Gene

Domains & Families for TANC2 Gene

Gene Families for TANC2 Gene

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

Suggested Antigen Peptide Sequences for TANC2 Gene

GenScript: Design optimal peptide antigens:
  • Tetratricopeptide repeat, ankyrin repeat and coiled-coil domain-containing protein 2 (TANC2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HCD6

UniProtKB/Swiss-Prot:

TANC2_HUMAN :
  • Belongs to the TANC family.
Family:
  • Belongs to the TANC family.
genes like me logo Genes that share domains with TANC2: view

Function for TANC2 Gene

Molecular function for TANC2 Gene

UniProtKB/Swiss-Prot Function:
Scaffolding protein in the dendritic spines which acts as immobile postsynaptic posts able to recruit KIF1A-driven dense core vesicles to dendritic spines.

Phenotypes From GWAS Catalog for TANC2 Gene

Gene Ontology (GO) - Molecular Function for TANC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with TANC2: view
genes like me logo Genes that share phenotypes with TANC2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TANC2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TANC2 Gene

Localization for TANC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TANC2 Gene

Cell projection, dendritic spine.

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 TANC2 gene
Compartment Confidence
cytosol 4
plasma membrane 2
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TANC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030054 cell junction IEA --
GO:0030424 axon IEA --
GO:0042995 cell projection IEA --
GO:0043197 dendritic spine IEA,IDA 30021165
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with TANC2: view

Pathways & Interactions for TANC2 Gene

PathCards logo

SuperPathways for TANC2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TANC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0060998 regulation of dendritic spine development ISS --
GO:0061001 regulation of dendritic spine morphogenesis ISS --
GO:0099519 dense core granule cytoskeletal transport ISS --
genes like me logo Genes that share ontologies with TANC2: view

No data available for Pathways by source and SIGNOR curated interactions for TANC2 Gene

Drugs & Compounds for TANC2 Gene

(1) Drugs for TANC2 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium channel blockers Pharma 2175
genes like me logo Genes that share compounds with TANC2: view

Transcripts for TANC2 Gene

mRNA/cDNA for TANC2 Gene

3 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TANC2

Alternative Splicing Database (ASD) splice patterns (SP) for TANC2 Gene

No ASD Table

Relevant External Links for TANC2 Gene

GeneLoc Exon Structure for
TANC2

Expression for TANC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TANC2 Gene

Protein differential expression in normal tissues from HIPED for TANC2 Gene

This gene is overexpressed in Tlymphocyte (11.7), Bone (11.0), Lung (10.3), Skin (9.0), Fetal Brain (8.6), and Frontal cortex (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TANC2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TANC2

SOURCE GeneReport for Unigene cluster for TANC2 Gene:

Hs.410889

Evidence on tissue expression from TISSUES for TANC2 Gene

  • Nervous system(4.9)
  • Skin(2.2)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with TANC2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TANC2 Gene

Orthologs for TANC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for TANC2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TANC2 30 31
  • 99.66 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TANC2 30 31
  • 93.58 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tanc2 30 17 31
  • 92.09 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TANC2 31
  • 92 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tanc2 30
  • 91.94 (n)
Cow
(Bos Taurus)
Mammalia TANC2 30 31
  • 91.39 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TANC2 31
  • 91 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TANC2 30 31
  • 81.52 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TANC2 31
  • 89 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tanc2 30
  • 75.1 (n)
Zebrafish
(Danio rerio)
Actinopterygii TANC2 (1 of 2) 31
  • 74 (a)
OneToMany
tanc2 30 31
  • 68.74 (n)
OneToMany
Dr.8965 30
Fruit Fly
(Drosophila melanogaster)
Insecta rols 31
  • 29 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1817 31
  • 42 (a)
ManyToMany
-- 31
  • 41 (a)
ManyToMany
-- 31
  • 38 (a)
ManyToMany
Species where no ortholog for TANC2 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)
  • Worm (Caenorhabditis elegans)

Evolution for TANC2 Gene

ENSEMBL:
Gene Tree for TANC2 (if available)
TreeFam:
Gene Tree for TANC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TANC2: view image

Paralogs for TANC2 Gene

Paralogs for TANC2 Gene

(19) SIMAP similar genes for TANC2 Gene using alignment to 5 proteins:

  • TANC2_HUMAN
  • J3KRP9_HUMAN
  • J3KTM5_HUMAN
  • J3QQY7_HUMAN
  • J3QRF0_HUMAN

Pseudogenes.org Pseudogenes for TANC2 Gene

genes like me logo Genes that share paralogs with TANC2: view

Variants for TANC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TANC2 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
718300 Benign: not provided 63,200,782(+) C/T SYNONYMOUS_VARIANT
735188 Likely Benign: not provided 63,389,413(+) A/G MISSENSE_VARIANT
736087 Benign: not provided 63,267,742(+) T/C INTRON_VARIANT
736088 Benign: not provided 63,319,087(+) G/A SYNONYMOUS_VARIANT
765385 Likely Benign: not provided 63,340,340(+) T/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for TANC2 Gene

Structural Variations from Database of Genomic Variants (DGV) for TANC2 Gene

Variant ID Type Subtype PubMed ID
dgv5741n54 CNV loss 21841781
dgv5742n54 CNV loss 21841781
dgv580e214 CNV loss 21293372
esv2657672 CNV deletion 23128226
esv27080 CNV loss 19812545
esv3349047 CNV insertion 20981092
esv3436323 CNV insertion 20981092
esv3640982 CNV loss 21293372
esv3640984 CNV gain 21293372
esv3640986 CNV gain 21293372
esv3640990 CNV loss 21293372
esv3640991 CNV loss 21293372
nsv1064059 CNV gain 25217958
nsv1109101 CNV deletion 24896259
nsv112050 CNV insertion 16902084
nsv2116 CNV insertion 18451855
nsv457865 CNV loss 19166990
nsv457866 CNV loss 19166990
nsv457867 CNV loss 19166990
nsv477071 CNV novel sequence insertion 20440878
nsv480262 CNV novel sequence insertion 20440878
nsv526079 CNV gain 19592680
nsv575846 CNV loss 21841781
nsv575848 CNV loss 21841781
nsv575851 CNV loss 21841781
nsv575853 CNV loss 21841781
nsv833509 CNV gain+loss 17160897
nsv954586 CNV deletion 24416366

Variation tolerance for TANC2 Gene

Residual Variation Intolerance Score: 0.325% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.00; 49.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TANC2 Gene

Human Gene Mutation Database (HGMD)
TANC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TANC2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TANC2 Gene

Disorders for TANC2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for TANC2 Gene - From: OMIM and DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search TANC2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TANC2_HUMAN
  • Note=Defects in TANC2 has been found in a patient with isolated coloboma, a defect of the eye characterized by the absence of ocular structures due to abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Isolated colobomas may be associated with an abnormally small eye (microphthalmia) or small cornea. {ECO:0000269 PubMed:28493397}.

Additional Disease Information for TANC2

genes like me logo Genes that share disorders with TANC2: view

No data available for Genatlas for TANC2 Gene

Publications for TANC2 Gene

  1. Regulation of KIF1A-Driven Dense Core Vesicle Transport: Ca2+/CaM Controls DCV Binding and Liprin-α/TANC2 Recruits DCVs to Postsynaptic Sites. (PMID: 30021165) Stucchi R … Hoogenraad CC (Cell reports 2018) 3 4
  2. Regulation of dendritic spines, spatial memory, and embryonic development by the TANC family of PSD-95-interacting proteins. (PMID: 21068316) Han S … Kim E (The Journal of neuroscience : the official journal of the Society for Neuroscience 2010) 2 3
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10997877) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4
  5. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PMID: 10574461) Hirosawa M … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 3 4

Products for TANC2 Gene

  • Signalway ELISA kits for TANC2

Sources for TANC2 Gene