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Aliases for CRYBB2P1 Gene

Aliases for CRYBB2P1 Gene

  • Crystallin Beta B2 Pseudogene 1 2 3 5
  • Crystallin, Beta B2 Pseudogene 1 2
  • CRYB2B 3

External Ids for CRYBB2P1 Gene

Previous HGNC Symbols for CRYBB2P1 Gene

  • CRYB2B

Previous GeneCards Identifiers for CRYBB2P1 Gene

  • GC22P022540
  • GC22P024168
  • GC22P025845
  • GC22P008791
  • GC22P025847

Summaries for CRYBB2P1 Gene

GeneCards Summary for CRYBB2P1 Gene

CRYBB2P1 (Crystallin Beta B2 Pseudogene 1) is a Pseudogene.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CRYBB2P1 Gene

Genomics for CRYBB2P1 Gene

Regulatory Elements for CRYBB2P1 Gene

Enhancers for CRYBB2P1 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
GH22F024726 1.4 Ensembl ENCODE 10.2 -719.0 -718996 4.6 PKNOX1 ARNT MLX ZFP64 ARID4B FEZF1 DMAP1 ZNF2 FOS SP5 LOC105372966 SNRPD3 CRYBB2P1 ZNF70 GGTLC4P LRP5L GC22P024755 TOP1P2
GH22F025060 1.4 FANTOM5 Ensembl ENCODE 10.1 -386.0 -385986 3.0 HDGF CTCF ZNF146 ZNF133 RAD21 ZFHX2 POLR2A ZBTB48 ZNF366 PRDM10 KIAA1671 LOC105372966 CRYBB2P1 CRYBB2 ENSG00000279110 ENSG00000279006
GH22F024630 1.3 Ensembl ENCODE 10 -815.1 -815087 6.0 HDGF PKNOX1 ARNT ARID4B GLI4 ZNF121 ZNF207 ZNF143 KLF7 KDM4B GGT1 LOC105372966 ZNF70 ENSG00000272578 SNRPD3 ENSG00000232545 CRYBB2P1 POM121L10P BCRP3 PIRC111
GH22F025447 1 ENCODE 0.8 +0.4 392 2.8 HDGF PKNOX1 CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A ZNF48 ZNF121 GLIS2 LOC105372966 ENSG00000272798 CRYBB2P1 MIR6817
GH22F025437 0.5 ENCODE 0.4 -10.3 -10254 1.0 ZNF341 MAFK KDM6A ENSG00000272798 LOC105372966 IGLVIVOR22-1 CRYBB2P1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CRYBB2P1 on UCSC Golden Path with GeneCards custom track

Promoters for CRYBB2P1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000616091 613 2201 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B ZNF48 ZNF121 SLC30A9 GLIS2 ZNF207

Genomic Location for CRYBB2P1 Gene

Chromosome:
22
Start:
25,448,087 bp from pter
End:
25,520,854 bp from pter
Size:
72,768 bases
Orientation:
Plus strand

Genomic View for CRYBB2P1 Gene

Genes around CRYBB2P1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CRYBB2P1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CRYBB2P1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CRYBB2P1 Gene

Proteins for CRYBB2P1 Gene

Post-translational modifications for CRYBB2P1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for CRYBB2P1 Gene

Domains & Families for CRYBB2P1 Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for CRYBB2P1 Gene

Function for CRYBB2P1 Gene

Molecular function for CRYBB2P1 Gene

GENATLAS Biochemistry:
crystallin,beta polypeptide B2,pseudogene 1 (see CRYB@)

Phenotypes for CRYBB2P1 Gene

GenomeRNAi human phenotypes for CRYBB2P1:
genes like me logo Genes that share phenotypes with CRYBB2P1: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CRYBB2P1 Gene

Localization for CRYBB2P1 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for CRYBB2P1 Gene

Pathways & Interactions for CRYBB2P1 Gene

SuperPathways for CRYBB2P1 Gene

No Data Available

Interacting Proteins for CRYBB2P1 Gene

Gene Ontology (GO) - Biological Process for CRYBB2P1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CRYBB2P1 Gene

Transcripts for CRYBB2P1 Gene

Unigene Clusters for CRYBB2P1 Gene

Crystallin, beta B2 pseudogene 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CRYBB2P1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b
SP1:
SP2: -
SP3:

Relevant External Links for CRYBB2P1 Gene

GeneLoc Exon Structure for
CRYBB2P1
ECgene alternative splicing isoforms for
CRYBB2P1

Expression for CRYBB2P1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CRYBB2P1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CRYBB2P1 Gene:

CRYBB2P1

SOURCE GeneReport for Unigene cluster for CRYBB2P1 Gene:

Hs.571835
genes like me logo Genes that share expression patterns with CRYBB2P1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for CRYBB2P1 Gene

Orthologs for CRYBB2P1 Gene

Evolution for CRYBB2P1 Gene

ENSEMBL:
Gene Tree for CRYBB2P1 (if available)
TreeFam:
Gene Tree for CRYBB2P1 (if available)

No data available for Orthologs for CRYBB2P1 Gene

Paralogs for CRYBB2P1 Gene

No data available for Paralogs for CRYBB2P1 Gene

Variants for CRYBB2P1 Gene

Sequence variations from dbSNP and Humsavar for CRYBB2P1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs10548092 -- 25,453,222(+) TGTTT(-/TATC)TATCT intron-variant
rs111327189 -- 25,452,676(+) GTGTC(A/C)AACTC intron-variant
rs111702921 -- 25,450,969(+) GACCT(A/C)GTGAT intron-variant
rs111706659 -- 25,456,769(+) GTGCA(C/T)GTGTG intron-variant
rs112095297 -- 25,454,834(+) AGCCC(C/T)TTGAC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CRYBB2P1 Gene

Variant ID Type Subtype PubMed ID
dgv100e203 CNV gain+loss 21179565
dgv1304e212 CNV gain 25503493
dgv1305e212 CNV loss 25503493
dgv1306e212 CNV loss 25503493
dgv1307e212 CNV gain 25503493
dgv175e55 CNV gain 17911159
dgv176e55 CNV loss 17911159
dgv177e55 CNV loss 17911159
dgv44e213 CNV gain 24956385
dgv44n64 CNV gain 17921354
dgv4545n100 CNV loss 25217958
dgv4547n100 CNV gain 25217958
nsv9890 CNV gain+loss 18304495
nsv979663 CNV duplication 23825009
nsv962871 CNV duplication 23825009
nsv834164 CNV gain+loss 17160897
nsv821696 CNV gain 15273396
nsv817983 CNV gain+loss 17921354
nsv7350 OTHER inversion 18451855
nsv588857 CNV gain 21841781
nsv517205 CNV gain+loss 19592680
nsv514967 CNV gain+loss 21397061
nsv471598 CNV gain+loss 15918152
nsv471190 CNV loss 18288195
nsv471189 CNV gain 18288195
nsv469691 CNV gain+loss 16826518
nsv469622 CNV gain+loss 16826518
nsv459855 CNV gain 19166990
nsv442794 CNV gain+loss 18776908
nsv436865 CNV insertion 17901297
nsv436355 CNV deletion 17901297
nsv436354 CNV deletion 17901297
nsv436347 CNV deletion 17901297
nsv433458 CNV gain 18776910
nsv1160747 OTHER complex 26073780
nsv1160745 CNV deletion 26073780
nsv1126013 CNV deletion 24896259
nsv1065503 CNV loss 25217958
nsv1056779 CNV loss 25217958
esv3893468 CNV gain 25118596
esv3893466 CNV gain 25118596
esv3893465 CNV gain+loss 25118596
esv3647474 CNV loss 21293372
esv3647470 CNV loss 21293372
esv3647461 CNV loss 21293372
esv32873 CNV gain+loss 17666407
esv2758829 CNV gain+loss 17122850
esv2751952 CNV gain 17911159
esv2724087 CNV deletion 23290073
esv2496250 CNV gain 19546169
esv2421729 OTHER complex 20811451
esv23681 CNV gain+loss 19812545
dgv834e214 CNV gain 21293372
dgv833e214 CNV gain 21293372
dgv831e214 CNV gain 21293372
dgv828e199 CNV deletion 23128226
dgv8081n54 CNV loss 21841781
dgv8080n54 CNV loss 21841781
dgv8078n54 CNV gain 21841781
dgv8077n54 CNV loss 21841781
dgv8075n54 CNV loss 21841781
dgv8074n54 CNV gain 21841781
dgv8073n54 CNV gain+loss 21841781
dgv8071n54 CNV gain 21841781
dgv756n67 CNV gain 20364138
dgv731e201 CNV deletion 23290073
dgv578n27 CNV loss 19166990
dgv577n27 CNV gain 19166990
dgv576n27 CNV gain 19166990
dgv575n27 CNV loss 19166990
dgv45n64 CNV loss 17921354
dgv4558n100 CNV gain 25217958
dgv4557n100 CNV gain 25217958
dgv4556n100 CNV gain+loss 25217958
dgv4555n100 CNV gain 25217958
dgv4554n100 CNV loss 25217958
dgv4552n100 CNV loss 25217958
dgv4550n100 CNV gain 25217958
dgv4549n100 CNV gain+loss 25217958

Relevant External Links for CRYBB2P1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CRYBB2P1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for CRYBB2P1 Gene

Disorders for CRYBB2P1 Gene

Relevant External Links for CRYBB2P1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CRYBB2P1

No disorders were found for CRYBB2P1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CRYBB2P1 Gene

Publications for CRYBB2P1 Gene

  1. A second gene for cerulean cataracts maps to the beta crystallin region on chromosome 22. (PMID: 8812489) Kramer P. … Litt M. (Genomics 1996) 3 22 64
  2. Genome-wide association of mood-incongruent psychotic bipolar disorder. (PMID: 23092984) Goes F.S. … Potash J.B. (Transl Psychiatry 2012) 3 64
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 64
  4. The beta crystallin genes on human chromosome 22 define a new region of homology with mouse chromosome 5. (PMID: 7789995) Hulsebos T.J. … Copeland N.G. (Genomics 1995) 22 64
  5. Regional fine mapping of the beta crystallin genes on chromosome 22 excludes these genes as physically linked markers for neurofibromatosis type 2. (PMID: 7504514) Bijlsma E.K. … Hulsebos T.J.M. (Genes Chromosomes Cancer 1993) 22 64

Products for CRYBB2P1 Gene

Sources for CRYBB2P1 Gene

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