Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SDK2 Gene

Aliases for SDK2 Gene

  • Sidekick Cell Adhesion Molecule 2 2 3 5
  • Sidekick Homolog 2 (Chicken) 2
  • KIAA1514 4

External Ids for SDK2 Gene

Previous GeneCards Identifiers for SDK2 Gene

  • GC17P071133
  • GC17M074374
  • GC17M071798
  • GC17M071930
  • GC17M068842
  • GC17M071330
  • GC17M066739

Summaries for SDK2 Gene

Entrez Gene Summary for SDK2 Gene

  • The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains two immunoglobulin domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. This protein, and a homologous mouse sequence, are very similar to the Drosophila sidekick gene product but the specific function of this superfamily member is not yet known. Evidence for alternative splicing at this gene locus has been observed but the full-length nature of additional variants has not yet been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for SDK2 Gene

SDK2 (Sidekick Cell Adhesion Molecule 2) is a Protein Coding gene. Diseases associated with SDK2 include Congenital Stationary Night Blindness and Joubert Syndrome 1. An important paralog of this gene is SDK1.

UniProtKB/Swiss-Prot for SDK2 Gene

  • Adhesion molecule that promotes lamina-specific synaptic connections in the retina and is specifically required for the formation of neuronal circuits that detect motion. Acts by promoting formation of synapses between two specific retinal cell types: the retinal ganglion cells W3B-RGCs and the excitatory amacrine cells VG3-ACs. Formation of synapses between these two cells plays a key role in detection of motion. Promotes synaptic connectivity via homophilic interactions.

Gene Wiki entry for SDK2 Gene

Additional gene information for SDK2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SDK2 Gene

Genomics for SDK2 Gene

GeneHancer (GH) Regulatory Elements for SDK2 Gene

Promoters and enhancers for SDK2 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
GH17I073642 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE 568.9 +0.2 154 3 INSM2 KLF17 MZF1 ZNF76 SIN3A FEZF1 GLI4 ZNF2 RAD21 ZNF335 SDK2 COG1 C17orf80 ENSG00000264750
GH17I073591 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 27.5 +51.6 51576 3.5 NCOA3 PKNOX1 ZSCAN4 SIN3A YBX1 EBF1 PLRG1 RUNX3 SRF ELF1 SDK2 GC17P073633 GC17M073539
GH17I073611 Enhancer 1 Ensembl ENCODE dbSUPER 18.3 +31.0 30999 4.2 HLF SIN3A FEZF1 ZIC2 OSR2 GLIS2 POLR2A GLIS1 ZNF341 ZNF600 SDK2 GC17P073633 GC17M073539
GH17I073566 Enhancer 0.9 Ensembl ENCODE dbSUPER 11 +77.0 77043 2 SP1 MAX POU5F1 ZIC2 SDK2 GC17M073539 GC17P073537 GC17P073633
GH17I073616 Enhancer 0.8 ENCODE dbSUPER 12.1 +27.8 27756 0.8 ZNF687 MAZ ZNF398 ZIC2 ZFHX2 GLIS2 GLIS1 CEBPA ZBTB33 WT1 SDK2 GC17P073633 GC17M073539
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SDK2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SDK2 gene promoter:

Genomic Locations for SDK2 Gene

Genomic Locations for SDK2 Gene
chr17:73,334,384-73,644,484
(GRCh38/hg38)
Size:
310,101 bases
Orientation:
Minus strand
chr17:71,330,523-71,640,228
(GRCh37/hg19)

Genomic View for SDK2 Gene

Genes around SDK2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SDK2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SDK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SDK2 Gene

Proteins for SDK2 Gene

  • Protein details for SDK2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q58EX2-SDK2_HUMAN
    Recommended name:
    Protein sidekick-2
    Protein Accession:
    Q58EX2
    Secondary Accessions:
    • A6NMR8
    • C9JA57
    • Q86VY3
    • Q9NTD2
    • Q9NVB3
    • Q9P214

    Protein attributes for SDK2 Gene

    Size:
    2172 amino acids
    Molecular mass:
    239396 Da
    Quaternary structure:
    • Homodimer; mediates homophilic interactions to promote cell adhesion. Interacts (via PDZ-binding motif) with MAGI1, MAGI2, DLG2, DLG3 and DLG4.
    SequenceCaution:
    • Sequence=BAA91841.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SDK2 Gene

    Alternative splice isoforms for SDK2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SDK2 Gene

Post-translational modifications for SDK2 Gene

  • Glycosylation at posLast=193193, posLast=403403, isoforms=2, 3, 4609, posLast=743743, posLast=936936, posLast=948948, isoforms=2, 3, 41102, posLast=12561256, and posLast=16701670

Other Protein References for SDK2 Gene

No data available for DME Specific Peptides for SDK2 Gene

Domains & Families for SDK2 Gene

Suggested Antigen Peptide Sequences for SDK2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q58EX2

UniProtKB/Swiss-Prot:

SDK2_HUMAN :
  • the PDZ-binding motif mediates interaction with PDZ domain-containing proteins MAGI1, MAGI2, DLG2, DLG3 and DLG4 and is required for is required for synaptic localization in photoreceptors.
  • Belongs to the sidekick family.
Domain:
  • the PDZ-binding motif mediates interaction with PDZ domain-containing proteins MAGI1, MAGI2, DLG2, DLG3 and DLG4 and is required for is required for synaptic localization in photoreceptors.
Family:
  • Belongs to the sidekick family.
genes like me logo Genes that share domains with SDK2: view

Function for SDK2 Gene

Molecular function for SDK2 Gene

UniProtKB/Swiss-Prot Function:
Adhesion molecule that promotes lamina-specific synaptic connections in the retina and is specifically required for the formation of neuronal circuits that detect motion. Acts by promoting formation of synapses between two specific retinal cell types: the retinal ganglion cells W3B-RGCs and the excitatory amacrine cells VG3-ACs. Formation of synapses between these two cells plays a key role in detection of motion. Promotes synaptic connectivity via homophilic interactions.

Phenotypes From GWAS Catalog for SDK2 Gene

genes like me logo Genes that share phenotypes with SDK2: view

Animal Models for SDK2 Gene

MGI Knock Outs for SDK2:
  • Sdk2 tm1.1(cre/ERT2)Jrs

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SDK2 Gene

Localization for SDK2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SDK2 Gene

Cell membrane; Single-pass type I membrane protein. Cell junction, synapse.

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 SDK2 gene
Compartment Confidence
plasma membrane 5
peroxisome 2
nucleus 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SDK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
GO:0045202 synapse ISS --
genes like me logo Genes that share ontologies with SDK2: view

Pathways & Interactions for SDK2 Gene

No Data Available

Interacting Proteins for SDK2 Gene

Gene Ontology (GO) - Biological Process for SDK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA,ISS --
GO:0007416 synapse assembly ISS,IEA --
GO:0010842 retina layer formation IEA,ISS --
GO:0045216 cell-cell junction organization TAS --
genes like me logo Genes that share ontologies with SDK2: view

No data available for Pathways by source and SIGNOR curated interactions for SDK2 Gene

Drugs & Compounds for SDK2 Gene

No Compound Related Data Available

Transcripts for SDK2 Gene

Unigene Clusters for SDK2 Gene

Sidekick cell adhesion molecule 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SDK2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6: -

ExUns: 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35a · 35b ^ 36 ^ 37 ^ 38 ^ 39 ^ 40
SP1: -
SP2:
SP3: - -
SP4:
SP5:
SP6:

Relevant External Links for SDK2 Gene

GeneLoc Exon Structure for
SDK2
ECgene alternative splicing isoforms for
SDK2

Expression for SDK2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SDK2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SDK2 Gene

This gene is overexpressed in Testis (x8.4).

Protein differential expression in normal tissues from HIPED for SDK2 Gene

This gene is overexpressed in CD4 Tcells (31.9), Ovary (15.2), and Testis (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SDK2 Gene



NURSA nuclear receptor signaling pathways regulating expression of SDK2 Gene:

SDK2

SOURCE GeneReport for Unigene cluster for SDK2 Gene:

Hs.435719

Evidence on tissue expression from TISSUES for SDK2 Gene

  • Eye(4.3)
  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with SDK2: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SDK2 Gene

Orthologs for SDK2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SDK2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SDK2 33 34
  • 99.31 (n)
oppossum
(Monodelphis domestica)
Mammalia SDK2 34
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SDK2 33 34
  • 90.93 (n)
rat
(Rattus norvegicus)
Mammalia Sdk2 33
  • 87.77 (n)
mouse
(Mus musculus)
Mammalia Sdk2 33 16 34
  • 87.68 (n)
cow
(Bos Taurus)
Mammalia SDK2 33 34
  • 85.39 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SDK2 34
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves SDK2 33 34
  • 82.33 (n)
lizard
(Anolis carolinensis)
Reptilia SDK2 34
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sdk2 33
  • 72.33 (n)
zebrafish
(Danio rerio)
Actinopterygii SDK2 (2 of 2) 34
  • 78 (a)
OneToMany
sdk2b 33 34
  • 74.27 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000659 33
  • 48.1 (n)
fruit fly
(Drosophila melanogaster)
Insecta sdk 33
  • 26.89 (n)
Dscam2 34
  • 19 (a)
ManyToMany
Dscam4 34
  • 18 (a)
ManyToMany
Dscam 34
  • 17 (a)
ManyToMany
Dscam3 34
  • 17 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea rig-4 33 34
  • 39.61 (n)
Species where no ortholog for SDK2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 squirt (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)
  • wheat (Triticum aestivum)

Evolution for SDK2 Gene

ENSEMBL:
Gene Tree for SDK2 (if available)
TreeFam:
Gene Tree for SDK2 (if available)

Paralogs for SDK2 Gene

Paralogs for SDK2 Gene

(5) SIMAP similar genes for SDK2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SDK2: view

Variants for SDK2 Gene

Sequence variations from dbSNP and Humsavar for SDK2 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000014353 -- 73,437,448(-) A/G intron_variant
rs1000029940 -- 73,429,852(-) C/G intron_variant
rs1000033809 -- 73,605,965(-) T/C intron_variant
rs1000034947 -- 73,575,424(-) G/A intron_variant
rs1000037065 -- 73,585,875(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SDK2 Gene

Variant ID Type Subtype PubMed ID
nsv833534 CNV loss 17160897
nsv575987 CNV loss 21841781
nsv513480 CNV insertion 21212237
nsv479069 CNV novel sequence insertion 20440878
nsv457900 CNV loss 19166990
nsv1109106 CNV deletion 24896259
nsv1071801 CNV deletion 25765185
nsv1059422 CNV gain 25217958
esv3641218 CNV loss 21293372
esv3641217 CNV gain 21293372
esv3582905 CNV loss 25503493
esv3582903 CNV loss 25503493
esv3582902 CNV loss 25503493
esv3554757 CNV deletion 23714750
esv3414376 CNV insertion 20981092
esv3307588 CNV mobile element insertion 20981092
esv2761975 CNV loss 21179565
esv2716200 CNV deletion 23290073
esv2716199 CNV deletion 23290073
esv2716198 CNV deletion 23290073
esv2716197 CNV deletion 23290073
esv2716195 CNV deletion 23290073
esv2659285 CNV deletion 23128226
esv2507814 CNV deletion 19546169
esv2415749 CNV deletion 18987734
esv1445939 CNV insertion 17803354
dgv565e199 CNV deletion 23128226

Variation tolerance for SDK2 Gene

Residual Variation Intolerance Score: 92.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.30; 88.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SDK2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SDK2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SDK2 Gene

Disorders for SDK2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SDK2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
congenital stationary night blindness
  • congenital essential nyctalopia
joubert syndrome 1
  • jbts1
- elite association - COSMIC cancer census association via MalaCards
Search SDK2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SDK2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SDK2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SDK2 Gene

Publications for SDK2 Gene

  1. Sidekick-1 is upregulated in glomeruli in HIV-associated nephropathy. (PMID: 15213259) Kaufman L … Klotman PE (Journal of the American Society of Nephrology : JASN 2004) 2 3 22 58
  2. Genome-wide association study of panic disorder in the Japanese population. (PMID: 19165232) Otowa T … Okazaki Y (Journal of human genetics 2009) 3 44 58
  3. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (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 SDK2 Gene

Sources for SDK2 Gene

Content
Loading form....