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Aliases for VPS13B Gene

Aliases for VPS13B Gene

  • Vacuolar Protein Sorting 13 Homolog B 2 3 5
  • CHS1 3 4
  • COH1 3 4
  • Vacuolar Protein Sorting-Associated Protein 13B 3
  • Vacuolar Protein Sorting 13 Homolog B (Yeast) 2
  • Cohen Syndrome Protein 1 4
  • Cohen Syndrome 1 2
  • KIAA0532 4

External Ids for VPS13B Gene

Previous HGNC Symbols for VPS13B Gene

  • CHS1
  • COH1

Previous GeneCards Identifiers for VPS13B Gene

  • GC08P100095
  • GC08P095228
  • GC08P100026

Summaries for VPS13B Gene

Entrez Gene Summary for VPS13B Gene

  • This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for VPS13B Gene

VPS13B (Vacuolar Protein Sorting 13 Homolog B) is a Protein Coding gene. Diseases associated with VPS13B include Cohen Syndrome and Body Dysmorphic Disorder. An important paralog of this gene is VPS13C.

UniProtKB/Swiss-Prot for VPS13B Gene

  • May be involved in protein sorting in post Golgi membrane traffic.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VPS13B Gene

Genomics for VPS13B Gene

Regulatory Elements for VPS13B Gene

Enhancers for VPS13B 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
GH08G099891 1.1 ENCODE 10.8 +880.1 880148 2.7 HDGF PKNOX1 ARNT WRNIP1 ARID4B SIN3A FEZF1 ZNF2 YY1 SLC30A9 ENSG00000253180 PABPC1 VPS13B ANKRD46 COX6C GC08M099806
GH08G099034 0.7 ENCODE 16.9 +21.5 21520 0.7 FOXA2 CBX3 TAL1 ZMYM3 ZNF384 TCF12 ZNF121 ZNF316 ADNP FOS VPS13B LOC105375666 ENSG00000253562
GH08G099858 1.1 Ensembl ENCODE 10.1 +848.3 848263 4.9 BCOR CTCF RB1 SUZ12 ZMYM3 FEZF1 RAD21 ZFHX2 ZNF143 ZNF207 ENSG00000253912 ENSG00000253539 RGS22 VPS13B COX6C GC08M099806
GH08G099869 1 ENCODE 10.6 +856.5 856548 0.9 PKNOX1 ATF1 FEZF1 ZBTB7B TCF12 ZNF766 CBX5 FOS CAVIN1 REST VPS13B COX6C GC08M099806
GH08G098973 0.9 Ensembl ENCODE 11.6 -39.0 -39017 1.7 CTCF RNF2 SUZ12 CHD1 MAX CBX2 RBBP5 RAD21 FOXA1 ZBTB33 STK3 OSR2 VPS13B LOC105375666 ENSG00000229625 GC08P098985
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around VPS13B on UCSC Golden Path with GeneCards custom track

Promoters for VPS13B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000227796 329 2401 CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 ZNF143 SP3 TBX21 MEF2D

Genomic Location for VPS13B Gene

Chromosome:
8
Start:
99,013,071 bp from pter
End:
99,877,586 bp from pter
Size:
864,516 bases
Orientation:
Plus strand

Genomic View for VPS13B Gene

Genes around VPS13B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VPS13B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VPS13B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VPS13B Gene

Proteins for VPS13B Gene

  • Protein details for VPS13B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z7G8-VP13B_HUMAN
    Recommended name:
    Vacuolar protein sorting-associated protein 13B
    Protein Accession:
    Q7Z7G8
    Secondary Accessions:
    • C9JD30
    • Q709C6
    • Q709C7
    • Q7Z7G4
    • Q7Z7G5
    • Q7Z7G6
    • Q7Z7G7
    • Q8NB77
    • Q9NWV1
    • Q9Y4E7

    Protein attributes for VPS13B Gene

    Size:
    4022 amino acids
    Molecular mass:
    448664 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC03664.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for VPS13B Gene

neXtProt entry for VPS13B Gene

Post-translational modifications for VPS13B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for VPS13B Gene

Domains & Families for VPS13B Gene

Protein Domains for VPS13B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for VPS13B Gene

Graphical View of Domain Structure for InterPro Entry

Q7Z7G8

UniProtKB/Swiss-Prot:

VP13B_HUMAN :
  • Belongs to the VPS13 family.
Family:
  • Belongs to the VPS13 family.
genes like me logo Genes that share domains with VPS13B: view

No data available for Gene Families for VPS13B Gene

Function for VPS13B Gene

Molecular function for VPS13B Gene

UniProtKB/Swiss-Prot Function:
May be involved in protein sorting in post Golgi membrane traffic.
genes like me logo Genes that share phenotypes with VPS13B: view

Human Phenotype Ontology for VPS13B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for VPS13B Gene

Localization for VPS13B 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 VPS13B gene
Compartment Confidence
plasma membrane 3
nucleus 2
cytosol 2
extracellular 1
mitochondrion 1
golgi apparatus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for VPS13B Gene

Pathways & Interactions for VPS13B Gene

SuperPathways for VPS13B Gene

No Data Available

Gene Ontology (GO) - Biological Process for VPS13B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with VPS13B: view

No data available for Pathways by source and SIGNOR curated interactions for VPS13B Gene

Drugs & Compounds for VPS13B Gene

No Compound Related Data Available

Transcripts for VPS13B Gene

Unigene Clusters for VPS13B Gene

Vacuolar protein sorting 13 homolog B (yeast):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for VPS13B Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^
SP1: - - -
SP2: - - -
SP3: -
SP4: -
SP5:
SP6:
SP7:

ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35a · 35b ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^
SP1: - -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:

ExUns: 46 ^ 47 ^ 48 ^ 49 ^ 50 ^ 51 ^ 52 ^ 53 ^ 54 ^ 55 ^ 56 ^ 57 ^ 58 ^ 59 ^ 60 ^ 61a · 61b ^ 62 ^ 63 ^ 64
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for VPS13B Gene

GeneLoc Exon Structure for
VPS13B
ECgene alternative splicing isoforms for
VPS13B

Expression for VPS13B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for VPS13B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for VPS13B Gene

This gene is overexpressed in Prostate (53.2) and Serum (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for VPS13B Gene



Protein tissue co-expression partners for VPS13B Gene

NURSA nuclear receptor signaling pathways regulating expression of VPS13B Gene:

VPS13B

SOURCE GeneReport for Unigene cluster for VPS13B Gene:

Hs.191540

mRNA Expression by UniProt/SwissProt for VPS13B Gene:

Q7Z7G8-VP13B_HUMAN
Tissue specificity: Widely expressed. There is apparent differential expression of different transcripts. In fetal brain, lung, liver, and kidney, two transcripts of 2 and 5 kb are identified. These transcripts are also seen in all adult tissues analyzed. A larger transcript (12-14 kb) is expressed in prostate, testis, ovary, and colon in the adult. Expression is very low in adult brain tissue. Isoform 1 and isoform 2 are expressed in brain and retina. Isoform 2 is expressed ubiquitously.

Evidence on tissue expression from TISSUES for VPS13B Gene

  • Nervous system(4.6)
  • Blood(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for VPS13B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pituitary gland
  • scalp
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • trachea
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • bone marrow
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with VPS13B: view

Primer Products

No data available for mRNA differential expression in normal tissues for VPS13B Gene

Orthologs for VPS13B Gene

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

Orthologs for VPS13B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia VPS13B 34 35
  • 99.67 (n)
cow
(Bos Taurus)
Mammalia -- 35
  • 93 (a)
OneToMany
VPS13B 34
  • 90.2 (n)
-- 35
  • 89 (a)
OneToMany
-- 35
  • 85 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 93 (a)
OneToMany
-- 35
  • 86 (a)
OneToMany
-- 35
  • 84 (a)
OneToMany
-- 35
  • 77 (a)
OneToMany
-- 35
  • 75 (a)
OneToMany
-- 35
  • 71 (a)
OneToMany
-- 35
  • 69 (a)
OneToMany
-- 35
  • 63 (a)
OneToMany
-- 35
  • 25 (a)
OneToMany
dog
(Canis familiaris)
Mammalia VPS13B 34 35
  • 90.67 (n)
mouse
(Mus musculus)
Mammalia Vps13b 34 16 35
  • 86.42 (n)
rat
(Rattus norvegicus)
Mammalia Vps13b 34
  • 85.66 (n)
oppossum
(Monodelphis domestica)
Mammalia VPS13B 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves VPS13B 34 35
  • 77.19 (n)
lizard
(Anolis carolinensis)
Reptilia VPS13B 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia vps13b 34
  • 72.2 (n)
Str.11735 34
zebrafish
(Danio rerio)
Actinopterygii VPS13B (2 of 5) 35
  • 88 (a)
OneToMany
VPS13B (1 of 5) 35
  • 82 (a)
OneToMany
CABZ01111454.1 35
  • 58 (a)
OneToMany
VPS13B (3 of 5) 35
  • 57 (a)
OneToMany
VPS13B (5 of 5) 35
  • 47 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG15523 35
  • 21 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C25H3.8 35
  • 11 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS13 35
  • 11 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 23 (a)
OneToOne
Species where no ortholog for VPS13B 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 VPS13B Gene

ENSEMBL:
Gene Tree for VPS13B (if available)
TreeFam:
Gene Tree for VPS13B (if available)

Paralogs for VPS13B Gene

Paralogs for VPS13B Gene

Pseudogenes.org Pseudogenes for VPS13B Gene

genes like me logo Genes that share paralogs with VPS13B: view

Variants for VPS13B Gene

Sequence variations from dbSNP and Humsavar for VPS13B Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs120074149 Pathogenic, Cohen syndrome (COH1) [MIM:216550] 99,717,219(+) TCTCC(G/T)TAAAA reference, missense
rs120074153 Pathogenic, Cohen syndrome (COH1) [MIM:216550] 99,784,394(+) GTTTG(A/G)CCAGG reference, missense
rs120074155 Pathogenic, Cohen syndrome (COH1) [MIM:216550] 99,818,473(+) TTCCA(C/T)TATTT reference, missense
rs180177370 Pathogenic, Cohen syndrome (COH1) [MIM:216550] 99,817,685(+) GCCTT(C/T)GTACA reference, missense
rs28940272 Pathogenic, Cohen syndrome (COH1) [MIM:216550] 99,820,031(+) TATCA(A/G)TGAAT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for VPS13B Gene

Variant ID Type Subtype PubMed ID
esv1037958 CNV deletion 17803354
esv1158340 CNV deletion 17803354
esv2431771 CNV insertion 19546169
esv2471268 CNV deletion 19546169
esv2657142 CNV deletion 23128226
esv2659434 CNV deletion 23128226
esv2660790 CNV deletion 23128226
esv2664964 CNV deletion 23128226
esv2674895 CNV deletion 23128226
esv2675614 CNV deletion 23128226
esv2677833 CNV deletion 23128226
esv27193 CNV gain 19812545
esv2737353 CNV deletion 23290073
esv2737354 CNV deletion 23290073
esv2737355 CNV deletion 23290073
esv2737356 CNV deletion 23290073
esv2737357 CNV deletion 23290073
esv2737358 CNV deletion 23290073
esv2759632 CNV gain 17122850
esv2759633 CNV loss 17122850
esv28492 CNV loss 19812545
esv3304952 CNV mobile element insertion 20981092
esv3323092 CNV insertion 20981092
esv3424365 CNV insertion 20981092
esv3434292 CNV insertion 20981092
esv3543915 CNV deletion 23714750
esv3618159 CNV gain 21293372
esv3618160 CNV loss 21293372
esv3618161 CNV loss 21293372
esv3618162 CNV loss 21293372
esv3618163 CNV loss 21293372
esv3618164 CNV gain 21293372
esv3618165 CNV loss 21293372
esv3618166 CNV loss 21293372
esv3618167 CNV loss 21293372
esv3618168 CNV gain 21293372
esv3618169 CNV loss 21293372
esv3618170 CNV insertion 21293372
esv3618172 CNV gain 21293372
esv3618173 CNV loss 21293372
esv3618174 CNV loss 21293372
esv3618175 CNV gain 21293372
esv3618176 CNV loss 21293372
esv3618177 CNV loss 21293372
esv3618178 CNV loss 21293372
esv3618179 CNV loss 21293372
esv3618180 CNV loss 21293372
esv3618181 CNV loss 21293372
esv3891445 CNV loss 25118596
esv3891446 CNV gain 25118596
esv3891447 CNV loss 25118596
esv3891449 CNV loss 25118596
esv6620 OTHER inversion 19470904
nsv1015966 CNV loss 25217958
nsv1019168 CNV loss 25217958
nsv1020614 CNV loss 25217958
nsv1033795 CNV loss 25217958
nsv1077524 CNV duplication 25765185
nsv1139940 CNV duplication 24896259
nsv1140386 OTHER inversion 24896259
nsv1140923 CNV deletion 24896259
nsv1149695 CNV duplication 26484159
nsv1161782 CNV duplication 26073780
nsv1161783 CNV duplication 26073780
nsv396580 CNV deletion 16902084
nsv396852 CNV deletion 16902084
nsv473015 CNV novel sequence insertion 20440878
nsv478966 CNV novel sequence insertion 20440878
nsv523290 CNV loss 19592680
nsv524617 CNV loss 19592680
nsv611809 CNV loss 21841781
nsv611810 CNV loss 21841781
nsv611811 CNV loss 21841781
nsv611812 CNV loss 21841781
nsv611813 CNV loss 21841781
nsv6328 CNV insertion 18451855
nsv821659 CNV loss 15273396
nsv831407 CNV loss 17160897
nsv831408 CNV loss 17160897
nsv8368 CNV loss 18304495
nsv967621 CNV duplication 23825009

Variation tolerance for VPS13B Gene

Residual Variation Intolerance Score: 0.765% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.60; 97.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for VPS13B Gene

Human Gene Mutation Database (HGMD)
VPS13B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
VPS13B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VPS13B Gene

Disorders for VPS13B Gene

MalaCards: The human disease database

(10) MalaCards diseases for VPS13B Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cohen syndrome
  • coh1
body dysmorphic disorder
  • body dysmorphia
hiatus hernia
  • diaphragmatic - hiatus -hernia
rubinstein-taybi syndrome
  • rubinstein-taybi syndrome 1
trichorhinophalangeal syndrome, type i
  • trichorhinophalangeal syndrome type i
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

VP13B_HUMAN
  • Cohen syndrome (COH1) [MIM:216550]: A rare autosomal recessive disorder characterized by obesity, hypotonia, intellectual deficit, characteristic craniofacial dysmorphism and abnormalities of the hands and feet. Characteristic facial features include high-arched or wave-shaped eyelids, a short philtrum, thick hair and low hairline. {ECO:0000269 PubMed:12730828, ECO:0000269 PubMed:15141358, ECO:0000269 PubMed:15154116, ECO:0000269 PubMed:15211651, ECO:0000269 PubMed:16648375, ECO:0000269 PubMed:19006247}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for VPS13B

Genetic Association Database (GAD)
VPS13B
Human Genome Epidemiology (HuGE) Navigator
VPS13B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
VPS13B
genes like me logo Genes that share disorders with VPS13B: view

No data available for Genatlas for VPS13B Gene

Publications for VPS13B Gene

  1. Analysis of the human VPS13 gene family. (PMID: 15498460) Velayos-Baeza A. … Monaco A.P. (Genomics 2004) 2 3 4 22 64
  2. Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. (PMID: 15154116) Hennies H.C. … Horn D. (Am. J. Hum. Genet. 2004) 3 4 22 64
  3. Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. (PMID: 12730828) Kolehmainen J. … Lehesjoki A.-E. (Am. J. Hum. Genet. 2003) 3 4 22 64
  4. Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis. (PMID: 7920642) Tahvanainen E. … de la Chapelle A. (Nat. Genet. 1994) 2 3 22 64
  5. Genome-wide copy number variation association study suggested VPS13B gene for osteoporosis in Caucasians. (PMID: 19680589) Deng F.Y. … Deng H.W. (Osteoporos Int 2010) 3 46 64

Products for VPS13B Gene

Sources for VPS13B Gene

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