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Aliases for BBS2 Gene

Aliases for BBS2 Gene

  • Bardet-Biedl Syndrome 2 2 3 5
  • Bardet-Biedl Syndrome 2 Protein 3
  • RP74 3
  • BBS 3

External Ids for BBS2 Gene

Previous HGNC Symbols for BBS2 Gene

  • BBS

Previous GeneCards Identifiers for BBS2 Gene

  • GC16M046902
  • GC16M056569
  • GC16M056238
  • GC16M056293
  • GC16M055075
  • GC16M042388

Summaries for BBS2 Gene

Entrez Gene Summary for BBS2 Gene

  • This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with seven other BBS proteins.[provided by RefSeq, Oct 2014]

GeneCards Summary for BBS2 Gene

BBS2 (Bardet-Biedl Syndrome 2) is a Protein Coding gene. Diseases associated with BBS2 include Bardet-Biedl Syndrome 2 and Retinitis Pigmentosa 74. Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. Gene Ontology (GO) annotations related to this gene include RNA polymerase II repressing transcription factor binding.

UniProtKB/Swiss-Prot for BBS2 Gene

  • The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization.

Gene Wiki entry for BBS2 Gene

Additional gene information for BBS2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BBS2 Gene

Genomics for BBS2 Gene

GeneHancer (GH) Regulatory Elements for BBS2 Gene

Promoters and enhancers for BBS2 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
GH16J056518 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 688.4 +0.7 731 2.9 ATF1 ARID4B SIN3A DMAP1 ZNF48 YY1 POLR2B GLIS2 ZNF207 ZNF143 BBS2 OGFOD1 MT3 MT1G MT1H MT1A NUDT21 MT4 ENSG00000274031
GH16J056450 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 38.8 +68.8 68768 3 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B NUDT21 OGFOD1 BBS2 RSPRY1 NUP93 MT4
GH16J056420 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 37.3 +96.6 96604 6.3 ATF1 FOXA2 ARNT ARID4B SIN3A ZNF48 YY1 GLIS2 GATA2 ZNF143 GC16M056424 PIR43832 PIR36581 AMFR BBS2 OGFOD1 LOC105371286 MT4 PIR52158
GH16J056604 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 17.4 -89.9 -89873 10.8 HDGF PKNOX1 FOXA2 SMAD1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 MT2A GC16P056609 GC16P056608 ENSG00000260823 RSPRY1 NUP93 POLR2C BBS2 MT1A MT1F
GH16J056546 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 24.6 -27.4 -27437 2 ATF1 SOX6 ZEB2 GABPA GTF3C2 SP1 POLR2A ZSCAN16 SPI1 ZBTB20 BBS2 MT3 RSPRY1 MT4 MT1A MT1G MT1H GNAO1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BBS2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BBS2 gene promoter:

Genomic Locations for BBS2 Gene

Genomic Locations for BBS2 Gene
chr16:56,466,836-56,520,283
(GRCh38/hg38)
Size:
53,448 bases
Orientation:
Minus strand
chr16:56,500,748-56,554,195
(GRCh37/hg19)

Genomic View for BBS2 Gene

Genes around BBS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BBS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BBS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BBS2 Gene

Proteins for BBS2 Gene

  • Protein details for BBS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXC9-BBS2_HUMAN
    Recommended name:
    Bardet-Biedl syndrome 2 protein
    Protein Accession:
    Q9BXC9
    Secondary Accessions:
    • Q96CM0
    • Q96SN9

    Protein attributes for BBS2 Gene

    Size:
    721 amino acids
    Molecular mass:
    79871 Da
    Quaternary structure:
    • Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts (via C-terminus) with BBS7. Interacts (via coiled coil domain) with MKKS. Interacts with CCDC28B and ALDOB.

neXtProt entry for BBS2 Gene

Post-translational modifications for BBS2 Gene

  • Ubiquitination at Lys712, posLast=691691, Lys673, posLast=659659, Lys609, posLast=360360, Lys345, Lys231, posLast=3939, and Lys9
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BBS2 Gene

Domains & Families for BBS2 Gene

Gene Families for BBS2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for BBS2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BBS2: view

No data available for UniProtKB/Swiss-Prot for BBS2 Gene

Function for BBS2 Gene

Molecular function for BBS2 Gene

UniProtKB/Swiss-Prot Function:
The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization.

Phenotypes From GWAS Catalog for BBS2 Gene

Gene Ontology (GO) - Molecular Function for BBS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001103 RNA polymerase II repressing transcription factor binding IPI 22302990
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with BBS2: view
genes like me logo Genes that share phenotypes with BBS2: view

Human Phenotype Ontology for BBS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BBS2 Gene

MGI Knock Outs for BBS2:

Animal Model Products

miRNA for BBS2 Gene

miRTarBase miRNAs that target BBS2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for BBS2 Gene

Localization for BBS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BBS2 Gene

Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.

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 BBS2 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 4
mitochondrion 3
nucleus 1

Gene Ontology (GO) - Cellular Components for BBS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005815 microtubule organizing center IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with BBS2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BBS2 Gene

Pathways & Interactions for BBS2 Gene

genes like me logo Genes that share pathways with BBS2: view

Gene Ontology (GO) - Biological Process for BBS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007288 sperm axoneme assembly ISS,IEA --
GO:0007601 visual perception IMP 25541840
GO:0008104 protein localization ISS,IEA --
GO:0010629 negative regulation of gene expression IEA --
GO:0014824 artery smooth muscle contraction IEA --
genes like me logo Genes that share ontologies with BBS2: view

No data available for SIGNOR curated interactions for BBS2 Gene

Drugs & Compounds for BBS2 Gene

No Compound Related Data Available

Transcripts for BBS2 Gene

mRNA/cDNA for BBS2 Gene

Unigene Clusters for BBS2 Gene

Bardet-Biedl syndrome 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BBS2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b · 13c · 13d ^ 14a ·
SP1: - - - - - -
SP2:
SP3: - - -
SP4: -
SP5: - -
SP6:
SP7:
SP8: -
SP9:
SP10: - -
SP11:

ExUns: 14b ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b
SP1: - -
SP2: - -
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for BBS2 Gene

GeneLoc Exon Structure for
BBS2
ECgene alternative splicing isoforms for
BBS2

Expression for BBS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BBS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BBS2 Gene

This gene is overexpressed in Retina (31.5), Testis (12.5), Ovary (7.8), and Heart (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BBS2 Gene



Protein tissue co-expression partners for BBS2 Gene

NURSA nuclear receptor signaling pathways regulating expression of BBS2 Gene:

BBS2

SOURCE GeneReport for Unigene cluster for BBS2 Gene:

Hs.333738

mRNA Expression by UniProt/SwissProt for BBS2 Gene:

Q9BXC9-BBS2_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for BBS2 Gene

  • Nervous system(4.7)
  • Liver(3.1)
  • Stomach(3.1)
  • Heart(3)
  • Kidney(2.7)
  • Muscle(2.5)
  • Intestine(2.4)
  • Lung(2.2)
  • Blood(2.1)
  • Eye(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BBS2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • nose
  • olfactory bulb
  • outer ear
  • pituitary gland
  • skull
  • tooth
Thorax:
  • breast
  • bronchus
  • heart
  • heart valve
  • lung
Abdomen:
  • biliary tract
  • gallbladder
  • kidney
  • liver
  • pancreas
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with BBS2: view

No data available for mRNA differential expression in normal tissues for BBS2 Gene

Orthologs for BBS2 Gene

This gene was present in the common ancestor of animals.

Orthologs for BBS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BBS2 34 33
  • 99.58 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BBS2 34 33
  • 90.95 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BBS2 34 33
  • 89.64 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BBS2 34
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bbs2 16 34 33
  • 86.87 (n)
rat
(Rattus norvegicus)
Mammalia Bbs2 33
  • 86.13 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 84 (a)
OneToMany
-- 34
  • 70 (a)
OneToMany
chicken
(Gallus gallus)
Aves BBS2 34 33
  • 72.86 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BBS2 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493660 33
  • 72.35 (n)
Str.13526 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.14339 33
zebrafish
(Danio rerio)
Actinopterygii bbs2 34 33 33
  • 68.67 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10857 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009637 33
  • 47.93 (n)
worm
(Caenorhabditis elegans)
Secernentea bbs-2 34 33
  • 47.07 (n)
OneToOne
F20D12.3 35
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 51 (a)
OneToOne
Species where no ortholog for BBS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • 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 BBS2 Gene

ENSEMBL:
Gene Tree for BBS2 (if available)
TreeFam:
Gene Tree for BBS2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BBS2: view image

Paralogs for BBS2 Gene

(1) SIMAP similar genes for BBS2 Gene using alignment to 6 proteins:

  • BBS2_HUMAN
  • H3BNS7_HUMAN
  • H3BQ79_HUMAN
  • H3BRL0_HUMAN
  • J3QKP7_HUMAN
  • J3QLW0_HUMAN
genes like me logo Genes that share paralogs with BBS2: view

No data available for Paralogs for BBS2 Gene

Variants for BBS2 Gene

Sequence variations from dbSNP and Humsavar for BBS2 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs11373 benign, not specified, Bardet-Biedl syndrome, Bardet-Biedl syndrome 2 56,511,263(-) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs115078074 likely-benign, not specified, Bardet-Biedl syndrome 56,519,902(-) A/G 5_prime_UTR_variant, non_coding_transcript_variant
rs115328064 uncertain-significance, Bardet-Biedl syndrome 56,499,782(-) T/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs117033008 conflicting-interpretations-of-pathogenicity, not specified, Bardet-Biedl syndrome 56,499,883(-) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs117744577 likely-benign, Bardet-Biedl syndrome 56,520,087(-) G/A 5_prime_UTR_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for BBS2 Gene

Variant ID Type Subtype PubMed ID
esv3408422 CNV insertion 20981092
nsv1111141 CNV tandem duplication 24896259
nsv833243 CNV gain 17160897

Variation tolerance for BBS2 Gene

Residual Variation Intolerance Score: 58.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.79; 66.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BBS2 Gene

Human Gene Mutation Database (HGMD)
BBS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BBS2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BBS2 Gene

Disorders for BBS2 Gene

MalaCards: The human disease database

(28) MalaCards diseases for BBS2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bardet-biedl syndrome 2
  • bbs2
retinitis pigmentosa 74
  • rp74
bardet-biedl syndrome
  • biedl-bardet syndrome
bardet-biedl syndrome 1
  • bbs1
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search BBS2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BBS2_HUMAN
  • Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269 PubMed:11285252, ECO:0000269 PubMed:11567139, ECO:0000269 PubMed:12677556, ECO:0000269 PubMed:12872256, ECO:0000269 PubMed:12920096, ECO:0000269 PubMed:15666242, ECO:0000269 PubMed:16823392, ECO:0000269 PubMed:21344540}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Retinitis pigmentosa 74 (RP74) [MIM:616562]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:25541840}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for BBS2

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 BBS2: view

No data available for Genatlas for BBS2 Gene

Publications for BBS2 Gene

  1. Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). (PMID: 11285252) Nishimura DY … Sheffield VC (Human molecular genetics 2001) 2 3 4 22 58
  2. Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. (PMID: 12677556) Beales PL … Katsanis N (American journal of human genetics 2003) 3 4 22 58
  3. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. (PMID: 11567139) Katsanis N … Lupski JR (Science (New York, N.Y.) 2001) 3 4 22 58
  4. Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. (PMID: 25541840) Shevach E … Sharon D (JAMA ophthalmology 2015) 3 4 58
  5. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PMID: 20801516) Booij JC … Florijn RJ (Ophthalmology 2011) 3 44 58

Products for BBS2 Gene

Sources for BBS2 Gene

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