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Aliases for KHDRBS2 Gene

Aliases for KHDRBS2 Gene

  • KH RNA Binding Domain Containing, Signal Transduction Associated 2 2 3 5
  • Sam68-Like Mammalian Protein 1 2 3 4
  • SLM-1 3 4
  • SLM1 3 4
  • KH Domain-Containing, RNA-Binding, Signal Transduction-Associated Protein 2 3
  • KH Domain Containing, RNA Binding, Signal Transduction Associated 2 3
  • HSLM-1 4

External Ids for KHDRBS2 Gene

Previous GeneCards Identifiers for KHDRBS2 Gene

  • GC00U991173
  • GC06M062386
  • GC06M062447
  • GC06M059556

Summaries for KHDRBS2 Gene

GeneCards Summary for KHDRBS2 Gene

KHDRBS2 (KH RNA Binding Domain Containing, Signal Transduction Associated 2) is a Protein Coding gene. Among its related pathways are Signaling by PTK6 and Signaling by GPCR. GO annotations related to this gene include nucleic acid binding and protein heterodimerization activity. An important paralog of this gene is KHDRBS3.

UniProtKB/Swiss-Prot for KHDRBS2 Gene

  • RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA splice site selection and exon inclusion. Binds both poly(A) and poly(U) homopolymers. Phosphorylation by PTK6 inhibits its RNA-binding ability (By similarity). Induces an increased concentration-dependent incorporation of exon in CD44 pre-mRNA by direct binding to purine-rich exonic enhancer. Can regulate alternative splicing of NRXN1 in the laminin G-like domain 6 containing the evolutionary conserved neurexin alternative spliced segment 4 (AS4) involved in neurexin selective targeting to postsynaptic partners. Regulates cell-type specific alternative splicing of NRXN1 at AS4 and acts synergystically with SAM68 in exon skipping. In contrast acts antagonistically with SAM68 in NRXN3 exon skipping at AS4. Its phosphorylation by FYN inhibits its ability to regulate splice site selection. May function as an adapter protein for Src kinases during mitosis.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KHDRBS2 Gene

Genomics for KHDRBS2 Gene

Regulatory Elements for KHDRBS2 Gene

Enhancers for KHDRBS2 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
GH06G061951 0.4 ENCODE 6.7 +334.6 334626 0.9 ATF2 KHDRBS2 GC06P061937 GC06M061991
GH06G062614 0.4 ENCODE 6.3 -329.5 -329526 2.5 CTCF NFIA KHDRBS2 ENSG00000262566 GC06P062656 GC06P062657 GC06P062658 GC06P062659 GC06P062660 GC06P062661
GH06G061605 0.4 ENCODE 4.7 +679.9 679891 1.3 CHD7 ENSG00000250686 KHDRBS2 GC06P061621 GC06M061619
GH06G062617 0.2 ENCODE 6.3 -331.3 -331324 0.2 KHDRBS2 ENSG00000262566 GC06P062656 GC06P062657 GC06P062658 GC06P062659 GC06P062660 GC06P062661
GH06G061885 0.3 FANTOM5 2.8 +400.3 400345 0.3 KHDRBS2 GC06M061769 GC06M061934 GC06M061935 GC06M061936 GC06M061937 GC06M061933
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KHDRBS2 on UCSC Golden Path with GeneCards custom track

Promoters for KHDRBS2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000198481 226 1200 MXI1 PKNOX1 CEBPZ NFIA NFYC RBBP5 DPF2 EP300 SP1 POLR2A

Genomic Location for KHDRBS2 Gene

Chromosome:
6
Start:
61,630,484 bp from pter
End:
62,286,227 bp from pter
Size:
655,744 bases
Orientation:
Minus strand

Genomic View for KHDRBS2 Gene

Genes around KHDRBS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KHDRBS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KHDRBS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KHDRBS2 Gene

Proteins for KHDRBS2 Gene

  • Protein details for KHDRBS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VWX1-KHDR2_HUMAN
    Recommended name:
    KH domain-containing, RNA-binding, signal transduction-associated protein 2
    Protein Accession:
    Q5VWX1
    Secondary Accessions:
    • A8K7M8
    • Q8N4I4
    • Q8TCZ4

    Protein attributes for KHDRBS2 Gene

    Size:
    349 amino acids
    Molecular mass:
    38927 Da
    Quaternary structure:
    • Self-associates to form homooligomers (By similarity). Interacts with KHDRBS1/SAM68; heterooligomer formation of KHDRBS family proteins may modulate RNA substrate specificity (By similarity). Interacts with RBMX (PubMed:19282290). Interacts with SAFB, SFRS9 and YTHDC1. Interacts with FYN and PLCG1 (via SH3 domain). Interacts (phosphorylated) with FYN, GRB2, PLCG1 and RASA1 (via SH2 domain) (By similarity).

neXtProt entry for KHDRBS2 Gene

Post-translational modifications for KHDRBS2 Gene

No data available for DME Specific Peptides for KHDRBS2 Gene

Domains & Families for KHDRBS2 Gene

Protein Domains for KHDRBS2 Gene

Suggested Antigen Peptide Sequences for KHDRBS2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5VWX1

UniProtKB/Swiss-Prot:

KHDR2_HUMAN :
  • Belongs to the KHDRBS family.
Family:
  • Belongs to the KHDRBS family.
genes like me logo Genes that share domains with KHDRBS2: view

Function for KHDRBS2 Gene

Molecular function for KHDRBS2 Gene

UniProtKB/Swiss-Prot Function:
RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA splice site selection and exon inclusion. Binds both poly(A) and poly(U) homopolymers. Phosphorylation by PTK6 inhibits its RNA-binding ability (By similarity). Induces an increased concentration-dependent incorporation of exon in CD44 pre-mRNA by direct binding to purine-rich exonic enhancer. Can regulate alternative splicing of NRXN1 in the laminin G-like domain 6 containing the evolutionary conserved neurexin alternative spliced segment 4 (AS4) involved in neurexin selective targeting to postsynaptic partners. Regulates cell-type specific alternative splicing of NRXN1 at AS4 and acts synergystically with SAM68 in exon skipping. In contrast acts antagonistically with SAM68 in NRXN3 exon skipping at AS4. Its phosphorylation by FYN inhibits its ability to regulate splice site selection. May function as an adapter protein for Src kinases during mitosis.

Gene Ontology (GO) - Molecular Function for KHDRBS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0005515 protein binding IPI 16189514
GO:0008143 poly(A) binding IEA --
GO:0008266 poly(U) RNA binding IEA --
GO:0017124 SH3 domain binding IEA --
genes like me logo Genes that share ontologies with KHDRBS2: view
genes like me logo Genes that share phenotypes with KHDRBS2: view

Animal Models for KHDRBS2 Gene

MGI Knock Outs for KHDRBS2:

Animal Model Products

CRISPR Products

miRNA for KHDRBS2 Gene

miRTarBase miRNAs that target KHDRBS2

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KHDRBS2 Gene

Localization for KHDRBS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KHDRBS2 Gene

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 KHDRBS2 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for KHDRBS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with KHDRBS2: view

Pathways & Interactions for KHDRBS2 Gene

genes like me logo Genes that share pathways with KHDRBS2: view

Pathways by source for KHDRBS2 Gene

Gene Ontology (GO) - Biological Process for KHDRBS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006397 mRNA processing IEA --
GO:0048024 regulation of mRNA splicing, via spliceosome IEA --
genes like me logo Genes that share ontologies with KHDRBS2: view

No data available for SIGNOR curated interactions for KHDRBS2 Gene

Drugs & Compounds for KHDRBS2 Gene

(1) Drugs for KHDRBS2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with KHDRBS2: view

Transcripts for KHDRBS2 Gene

mRNA/cDNA for KHDRBS2 Gene

(22) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(17) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KHDRBS2 Gene

KH domain containing, RNA binding, signal transduction associated 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KHDRBS2 Gene

No ASD Table

Relevant External Links for KHDRBS2 Gene

GeneLoc Exon Structure for
KHDRBS2
ECgene alternative splicing isoforms for
KHDRBS2

Expression for KHDRBS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KHDRBS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KHDRBS2 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x7.0), Brain - Frontal Cortex (BA9) (x4.8), Brain - Anterior cingulate cortex (BA24) (x4.7), Brain - Putamen (basal ganglia) (x4.6), Brain - Caudate (basal ganglia) (x4.4), and Brain - Hypothalamus (x4.2).

Protein differential expression in normal tissues from HIPED for KHDRBS2 Gene

This gene is overexpressed in Fetal Brain (38.7), Retina (11.0), and Fetal gut (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KHDRBS2 Gene



Protein tissue co-expression partners for KHDRBS2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KHDRBS2 Gene:

KHDRBS2

SOURCE GeneReport for Unigene cluster for KHDRBS2 Gene:

Hs.519794

mRNA Expression by UniProt/SwissProt for KHDRBS2 Gene:

Q5VWX1-KHDR2_HUMAN
Tissue specificity: Highly expressed in brain, lung, kidney and small intestine. Weakly expressed in placenta, liver, spleen, thymus, ovary and colon.

Evidence on tissue expression from TISSUES for KHDRBS2 Gene

  • Nervous system(4.5)
  • Spleen(4.2)
genes like me logo Genes that share expression patterns with KHDRBS2: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KHDRBS2 Gene

Orthologs for KHDRBS2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for KHDRBS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KHDRBS2 34 35
  • 99.43 (n)
dog
(Canis familiaris)
Mammalia KHDRBS2 34 35
  • 95.8 (n)
oppossum
(Monodelphis domestica)
Mammalia KHDRBS2 35
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 92 (a)
OneToMany
-- 35
  • 87 (a)
OneToMany
-- 35
  • 82 (a)
OneToMany
-- 35
  • 43 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Khdrbs2 34 16 35
  • 91.21 (n)
rat
(Rattus norvegicus)
Mammalia Khdrbs2 34
  • 89.97 (n)
cow
(Bos Taurus)
Mammalia KHDRBS2 34 35
  • 89.56 (n)
chicken
(Gallus gallus)
Aves KHDRBS2 34 35
  • 83.81 (n)
lizard
(Anolis carolinensis)
Reptilia KHDRBS2 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia khdrbs2 34
  • 72.66 (n)
zebrafish
(Danio rerio)
Actinopterygii khdrbs2 34 35
  • 70.43 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3927 35
  • 33 (a)
ManyToMany
CG4021 35
  • 32 (a)
ManyToMany
qkr58E-3 35
  • 32 (a)
ManyToMany
qkr58E-1 35
  • 31 (a)
ManyToMany
qkr54B 35
  • 30 (a)
ManyToMany
nsr 35
  • 29 (a)
ManyToMany
qkr58E-2 35
  • 28 (a)
ManyToMany
CG10384 35
  • 21 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea K07H8.9 35
  • 25 (a)
ManyToMany
Y57G11C.36 35
  • 24 (a)
ManyToMany
Y69A2AR.32 35
  • 23 (a)
ManyToMany
F54D1.1 35
  • 22 (a)
ManyToMany
B0280.17 35
  • 20 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSL5 35
  • 12 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11338 35
  • 35 (a)
OneToMany
Species where no ortholog for KHDRBS2 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)
  • 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 KHDRBS2 Gene

ENSEMBL:
Gene Tree for KHDRBS2 (if available)
TreeFam:
Gene Tree for KHDRBS2 (if available)

Paralogs for KHDRBS2 Gene

Paralogs for KHDRBS2 Gene

(3) SIMAP similar genes for KHDRBS2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with KHDRBS2: view

Variants for KHDRBS2 Gene

Sequence variations from dbSNP and Humsavar for KHDRBS2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000000425 -- 61,660,266(+) GATCA(A/G)ATTCA intron-variant
rs1000001003 -- 62,188,974(+) GCCAC(A/G)TGTGG intron-variant, upstream-variant-2KB
rs1000002348 -- 61,937,701(+) TTTAT(A/C)CTATA intron-variant
rs1000009440 -- 61,681,119(+) TAGTC(A/T)TTTAA intron-variant
rs1000015220 -- 62,076,848(+) GAGAC(A/C)AGCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KHDRBS2 Gene

Variant ID Type Subtype PubMed ID
dgv1009e201 CNV deletion 23290073
dgv10704n54 CNV loss 21841781
dgv10705n54 CNV loss 21841781
dgv10706n54 CNV loss 21841781
dgv10707n54 CNV loss 21841781
dgv10708n54 CNV loss 21841781
dgv10709n54 CNV loss 21841781
dgv10710n54 CNV loss 21841781
dgv1783e212 CNV loss 25503493
dgv5993n100 CNV loss 25217958
dgv5994n100 CNV gain 25217958
esv1257101 CNV deletion 17803354
esv1332559 CNV deletion 17803354
esv2071676 CNV deletion 18987734
esv21623 CNV gain+loss 19812545
esv2664902 CNV deletion 23128226
esv2667072 CNV deletion 23128226
esv2670697 CNV deletion 23128226
esv2670897 CNV deletion 23128226
esv2672959 CNV deletion 23128226
esv2732185 CNV deletion 23290073
esv2732186 CNV deletion 23290073
esv2732187 CNV deletion 23290073
esv2732188 CNV deletion 23290073
esv2732189 CNV deletion 23290073
esv2732192 CNV deletion 23290073
esv2763556 CNV loss 21179565
esv2763954 CNV loss 21179565
esv33001 CNV loss 17666407
esv3334387 CNV duplication 20981092
esv3539836 CNV deletion 23714750
esv3539838 CNV deletion 23714750
esv3539839 CNV deletion 23714750
esv3539840 CNV deletion 23714750
esv3539842 CNV deletion 23714750
esv3571104 CNV loss 25503493
esv3571105 CNV loss 25503493
esv3571106 CNV loss 25503493
esv3571110 CNV loss 25503493
esv3609211 CNV gain 21293372
esv3609212 CNV gain 21293372
esv3609213 CNV gain 21293372
esv3609214 CNV loss 21293372
esv3609215 CNV gain 21293372
esv3609216 CNV loss 21293372
esv3609218 CNV gain 21293372
esv3609219 CNV gain 21293372
esv3609220 CNV gain 21293372
esv3609221 CNV gain 21293372
esv3609222 CNV gain 21293372
esv3609223 CNV loss 21293372
esv3609224 CNV loss 21293372
esv3609227 CNV loss 21293372
esv3609228 CNV gain 21293372
esv3609229 CNV loss 21293372
esv3609230 CNV gain 21293372
esv3609231 CNV loss 21293372
esv3609232 CNV loss 21293372
esv3890858 CNV loss 25118596
esv3890861 CNV loss 25118596
esv3890862 CNV gain 25118596
nsv1021518 CNV loss 25217958
nsv1034161 CNV loss 25217958
nsv1034520 CNV gain 25217958
nsv1074937 CNV deletion 25765185
nsv1128250 CNV deletion 24896259
nsv1131982 CNV deletion 24896259
nsv1137103 CNV deletion 24896259
nsv1152332 CNV duplication 26484159
nsv1161386 CNV deletion 26073780
nsv442002 CNV loss 18776908
nsv462966 CNV gain 19166990
nsv514363 CNV loss 21397061
nsv603266 CNV loss 21841781
nsv603277 CNV gain 21841781
nsv603315 CNV loss 21841781
nsv603316 CNV loss 21841781
nsv603317 CNV gain 21841781
nsv823704 CNV loss 20364138
nsv950454 CNV duplication 24416366
nsv955956 CNV deletion 24416366

Variation tolerance for KHDRBS2 Gene

Residual Variation Intolerance Score: 52.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.32; 41.40% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KHDRBS2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KHDRBS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KHDRBS2 Gene

Disorders for KHDRBS2 Gene

Relevant External Links for KHDRBS2

Genetic Association Database (GAD)
KHDRBS2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KHDRBS2

No disorders were found for KHDRBS2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KHDRBS2 Gene

Publications for KHDRBS2 Gene

  1. Cloning and characterization of a novel human STAR domain containing cDNA KHDRBS2. (PMID: 12549823) Wang L. … Mao Y. (Mol. Biol. Rep. 2002) 3 4 22 64
  2. Heterogeneous nuclear ribonucleoprotein G regulates splice site selection by binding to CC(A/C)-rich regions in pre-mRNA. (PMID: 19282290) Heinrich B. … Stamm S. (J. Biol. Chem. 2009) 3 4 64
  3. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PMID: 18464913) Melzer D. … Ferrucci L. (PLoS Genet. 2008) 3 46 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. Sam68 RNA binding protein is an in vivo substrate for protein arginine N-methyltransferase 1. (PMID: 12529443) Cote J. … Richard S. (Mol. Biol. Cell 2003) 3 4 64

Products for KHDRBS2 Gene

Sources for KHDRBS2 Gene

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