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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 3
  • 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. Diseases associated with CRYBB2P1 include neurofibromatosis, type 2.

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

Promoters for CRYBB2P1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CRYBB2P1 on UCSC Golden Path with GeneCards custom track

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

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

Drugs & Compounds for CRYBB2P1 Gene

No Compound Related Data Available

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 for CRYBB2P1 Gene

SOURCE GeneReport for Unigene cluster for CRYBB2P1 Gene Hs.571835

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

In Situ Assay Products

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 , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
rs12345 -- 25,459,492(-) AAAGT(C/T)GCTGC nc-transcript-variant
rs523957 -- 25,449,768(+) cgcct(C/T)ggcct intron-variant
rs574946 -- 25,447,917(+) CCCAC(A/G)AGGCA upstream-variant-2KB
rs576585 -- 25,448,054(+) CACCG(C/T)AGACG upstream-variant-2KB
rs3198642 -- 25,448,180(+) GACCA(C/T)TTGGA nc-transcript-variant

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

Variant ID Type Subtype PubMed ID
nsv7350 OTHER Inversion 18451855
dgv1392e1 CNV Complex 17122850
dgv1393e1 CNV Complex 17122850
dgv175e55 CNV Gain 17911159
dgv1394e1 CNV Complex 17122850
esv23681 CNV Gain+Loss 19812545
dgv575n27 CNV Loss 19166990
dgv576n27 CNV Gain 19166990
dgv778e201 CNV Deletion 23290073
nsv436354 CNV Deletion 17901297
dgv44n64 CNV Gain 17921354
dgv4915n71 CNV Loss 21882294
dgv577n27 CNV Gain 19166990
nsv517205 CNV Gain+Loss 19592680
dgv176e55 CNV Loss 17911159
nsv471189 CNV Gain 18288195
dgv4918n71 CNV Gain+Loss 21882294
dgv4919n71 CNV Gain 21882294
dgv756n67 CNV Gain 20364138
dgv4922n71 CNV Gain 21882294
esv32873 CNV Gain+Loss 17666407
nsv436865 CNV Insertion 17901297
esv2751952 CNV Gain 17911159
dgv828e199 CNV Deletion 23128226
nsv9890 CNV Gain+Loss 18304495
dgv4925n71 CNV Loss 21882294
dgv4926n71 CNV Gain+Loss 21882294
nsv433458 CNV Gain 18776910
dgv45n64 CNV Loss 17921354
esv2421729 OTHER Complex 20811451
nsv442794 CNV CNV 18776908
nsv471190 CNV Loss 18288195
nsv817983 CNV Gain+Loss 17921354
nsv514967 CNV Complex 21397061
nsv436347 CNV Deletion 17901297
dgv4928n71 CNV Gain 21882294
nsv834164 CNV Gain+Loss 17160897
dgv177e55 CNV Loss 17911159
nsv459855 CNV Gain 19166990
esv2496250 CNV Gain 19546169
nsv469622 CNV Loss 16826518
nsv821696 CNV Gain 15273396
dgv4929n71 CNV Gain 21882294
dgv4930n71 CNV Gain 21882294
dgv578n27 CNV Loss 19166990
dgv4933n71 CNV Gain 21882294
dgv4934n71 CNV Gain 21882294
dgv4935n71 CNV Gain+Loss 21882294
nsv914856 CNV Loss 21882294
dgv4936n71 CNV Gain 21882294
dgv4937n71 CNV Loss 21882294
dgv4938n71 CNV Gain 21882294
esv2724087 CNV Deletion 23290073
nsv436355 CNV Deletion 17901297
dgv4939n71 CNV Loss 21882294
dgv4940n71 CNV Gain 21882294
nsv914882 CNV Gain 21882294
nsv914888 CNV Gain+Loss 21882294
dgv4941n71 CNV Gain 21882294
nsv469691 CNV Complex 16826518
nsv471598 CNV Gain+Loss 15918152

Relevant External Links for CRYBB2P1 Gene

HapMap Linkage Disequilibrium report
CRYBB2P1

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

Disorders for CRYBB2P1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CRYBB2P1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
neurofibromatosis, type 2
  • central neurofibromatosis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CRYBB2P1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CRYBB2P1
genes like me logo Genes that share disorders with CRYBB2P1: view

No data available for 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 23 67
  2. Genome-wide association of mood-incongruent psychotic bipolar disorder. (PMID: 23092984) Goes F.S. … Potash J.B. (Transl Psychiatry 2012) 3
  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
  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) 23
  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) 23

Products for CRYBB2P1 Gene

Sources for CRYBB2P1 Gene

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