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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

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

Genomics for SDK2 Gene

Regulatory Elements for SDK2 Gene

Enhancers for SDK2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G073591 1.5 FANTOM5 Ensembl ENCODE dbSUPER 27.5 +51.6 51577 3.5 PKNOX1 NR2F1 BHLHE40 ZSCAN4 YBX1 PLRG1 EBF1 REST TBX21 EP300 SDK2 GC17P073633 GC17M073539
GH17G073642 1.2 FANTOM5 ENCODE 18.8 +0.5 525 2.3 INSM2 ZNF76 KLF17 SIN3A FEZF1 GLI4 ZNF2 RAD21 GLIS2 SCRT2 SDK2 ENSG00000264750
GH17G073611 1.2 Ensembl ENCODE dbSUPER 18.3 +31.0 31000 4.2 HLF FEZF1 RBBP5 ZIC2 BRCA1 OSR2 ZNF274 GLIS2 POLR2A SMARCA4 SDK2 GC17P073633 GC17M073539
GH17G073685 1 ENCODE 11.1 -41.9 -41851 0.9 HNRNPUL1 FOXA2 ATF1 MLX ZFP64 ARID4B DMAP1 YY1 SLC30A9 NFYC SDK2 GC17P073678 LOC100134391
GH17G073566 1 Ensembl ENCODE dbSUPER 11 +77.0 77044 2.0 BCL11A MAX POU5F1 ZIC2 SDK2 GC17M073539 GC17P073633
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SDK2 on UCSC Golden Path with GeneCards custom track

Promoters for SDK2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000098118 184 2601 INSM2 ZNF76 KLF17 FEZF1 GLI4 ZNF2 RAD21 GLIS2 SCRT2 ZNF391

Genomic Location for SDK2 Gene

Chromosome:
17
Start:
73,334,384 bp from pter
End:
73,644,484 bp from pter
Size:
310,101 bases
Orientation:
Minus strand

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 Asn193, Asn403, Asn609, isoforms=2, 3, 4743, isoforms=2, 3, 4936, isoforms=2, 3, 4948, Asn1102, Asn1256, and isoforms=2, 3, 41670
  • Modification sites at PhosphoSitePlus

Other Protein References for SDK2 Gene

No data available for DME Specific Peptides for SDK2 Gene

Domains & Families for SDK2 Gene

Protein Domains 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.
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

  • Taconic Biosciences Mouse Models for SDK2

Inhibitory RNA 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

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 IEA,ISS --
GO:0010842 retina layer formation ISS,IEA --
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:

Inhibitory RNA Products

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

Primer Products

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 34 35
  • 99.31 (n)
oppossum
(Monodelphis domestica)
Mammalia SDK2 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SDK2 34 35
  • 90.93 (n)
rat
(Rattus norvegicus)
Mammalia Sdk2 34
  • 87.77 (n)
mouse
(Mus musculus)
Mammalia Sdk2 34 16 35
  • 87.68 (n)
cow
(Bos Taurus)
Mammalia SDK2 34 35
  • 85.39 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SDK2 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves SDK2 34 35
  • 82.33 (n)
lizard
(Anolis carolinensis)
Reptilia SDK2 35
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sdk2 34
  • 72.33 (n)
zebrafish
(Danio rerio)
Actinopterygii SDK2 (2 of 2) 35
  • 78 (a)
OneToMany
sdk2b 34 35
  • 74.27 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000659 34
  • 48.1 (n)
fruit fly
(Drosophila melanogaster)
Insecta sdk 34
  • 26.89 (n)
Dscam2 35
  • 19 (a)
ManyToMany
Dscam4 35
  • 18 (a)
ManyToMany
Dscam 35
  • 17 (a)
ManyToMany
Dscam3 35
  • 17 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea rig-4 34 35
  • 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 Sequence Context AA Info Type
rs1000014353 -- 73,437,448(+) TGTCT(A/G)CAGCT intron-variant
rs1000029940 -- 73,429,852(+) CCCGG(C/G)TTTTA intron-variant
rs1000033809 -- 73,605,965(+) TTTTT(C/T)CCTTC intron-variant
rs1000034947 -- 73,575,424(+) TGCCA(A/G)TTCCA intron-variant
rs1000037065 -- 73,585,875(+) TCTAA(C/T)ATAAA intron-variant

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

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

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)

Relevant External Links 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 and GeneCards

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

Relevant External Links for SDK2

Genetic Association Database (GAD)
SDK2
Human Genome Epidemiology (HuGE) Navigator
SDK2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SDK2
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 P.E. (J. Am. Soc. Nephrol. 2004) 2 3 22 64
  2. Genome-wide association study of panic disorder in the Japanese population. (PMID: 19165232) Otowa T. … Okazaki Y. (J. Hum. Genet. 2009) 3 46 64
  3. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody M.C. … Nusbaum C. (Nature 2006) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for SDK2 Gene

Sources for SDK2 Gene

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