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Aliases for VPS13B Gene

Aliases for VPS13B Gene

  • Vacuolar Protein Sorting 13 Homolog B (Yeast) 2 3
  • CHS1 3 4
  • COH1 3 4
  • 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 (Yeast)) is a Protein Coding gene. Diseases associated with VPS13B include cohen syndrome and hiatus hernia. 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 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for VPS13B Gene at MOPED

Post-translational modifications for VPS13B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for VPS13B

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

Animal Model Products

CRISPR 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
Jensen Localization Image for VPS13B Gene COMPARTMENTS Subcellular localization image for VPS13B gene
Compartment Confidence
extracellular 1
golgi apparatus 1
vacuole 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

Interacting Proteins for VPS13B Gene

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:

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 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, MOPED, and MaxQB for VPS13B Gene



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.
genes like me logo Genes that share expression patterns with VPS13B: view

Protein tissue co-expression partners for VPS13B Gene

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia VPS13B 35
  • 90.2 (n)
  • 90.74 (a)
-- 36
  • 89 (a)
OneToMany
-- 36
  • 85 (a)
OneToMany
-- 36
  • 93 (a)
OneToMany
dog
(Canis familiaris)
Mammalia VPS13B 35
  • 90.67 (n)
  • 90.37 (a)
VPS13B 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Vps13b 35
  • 86.42 (n)
  • 87.32 (a)
Vps13b 16
Vps13b 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia VPS13B 35
  • 99.67 (n)
  • 99.53 (a)
VPS13B 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Vps13b 35
  • 85.66 (n)
  • 86.55 (a)
oppossum
(Monodelphis domestica)
Mammalia VPS13B 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 84 (a)
OneToMany
-- 36
  • 93 (a)
OneToMany
-- 36
  • 63 (a)
OneToMany
-- 36
  • 25 (a)
OneToMany
-- 36
  • 69 (a)
OneToMany
-- 36
  • 75 (a)
OneToMany
-- 36
  • 71 (a)
OneToMany
-- 36
  • 86 (a)
OneToMany
-- 36
  • 77 (a)
OneToMany
chicken
(Gallus gallus)
Aves VPS13B 35
  • 77.19 (n)
  • 79.6 (a)
VPS13B 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia VPS13B 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11735 35
vps13b 35
  • 72.2 (n)
  • 74.07 (a)
zebrafish
(Danio rerio)
Actinopterygii CABZ01111454.1 36
  • 58 (a)
OneToMany
VPS13B (1 of 5) 36
  • 82 (a)
OneToMany
VPS13B (2 of 5) 36
  • 88 (a)
OneToMany
VPS13B (3 of 5) 36
  • 57 (a)
OneToMany
VPS13B (5 of 5) 36
  • 47 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG15523 36
  • 21 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C25H3.8 36
  • 11 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS13 36
  • 11 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 23 (a)
OneToOne
Species with no ortholog for VPS13B:
  • 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 MAF
rs7157 -- 99,877,449(+) GTCTA(C/T)TGTTA utr-variant-3-prime
rs17553 -- 99,862,753(+) TCTCT(C/T)TGATC intron-variant
rs689483 -- 99,866,901(-) CTATC(-/AA)GAGTG intron-variant
rs716454 -- 99,346,171(+) TTGGA(A/G)TTCTT intron-variant
rs717365 -- 99,533,950(-) AATGC(C/T)TTTAT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv891221 CNV Loss 21882294
esv2675614 CNV Deletion 23128226
dgv2245e1 CNV Complex 17122850
nsv524617 CNV Loss 19592680
esv1037958 CNV Deletion 17803354
esv1158340 CNV Deletion 17803354
nsv891222 CNV Loss 21882294
esv2677833 CNV Deletion 23128226
nsv821659 CNV Loss 15273396
esv6620 OTHER Inversion 19470904
nsv6328 CNV Insertion 18451855
esv27193 CNV Gain 19812545
nsv891223 CNV Loss 21882294
nsv891224 CNV Loss 21882294
nsv891225 CNV Loss 21882294
nsv831407 CNV Loss 17160897
nsv891226 CNV Loss 21882294
nsv891227 CNV Gain 21882294
esv2674895 CNV Deletion 23128226
esv2471268 CNV Deletion 19546169
dgv2246e1 CNV Complex 17122850
dgv2247e1 CNV Complex 17122850
essv20276 CNV CNV 17122850
nsv831408 CNV Loss 17160897
nsv891228 CNV Loss 21882294
esv2657142 CNV Deletion 23128226
esv2664964 CNV Deletion 23128226
nsv396580 CNV Loss 16902084
nsv8368 CNV Loss 18304495
esv2660790 CNV Deletion 23128226
esv28492 CNV Loss 19812545
esv2659434 CNV Deletion 23128226
nsv523290 CNV Loss 19592680
esv269230 CNV Insertion 20981092
esv2737353 CNV Deletion 23290073
esv2431771 CNV Insertion 19546169
esv2737354 CNV Deletion 23290073
esv2737355 CNV Deletion 23290073
nsv396852 CNV Loss 16902084
esv2737356 CNV Deletion 23290073
esv2737357 CNV Deletion 23290073
esv2737358 CNV Deletion 23290073

Variation tolerance for VPS13B Gene

Residual Variation Intolerance Score: .77% 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

HapMap Linkage Disequilibrium report
VPS13B
Human Gene Mutation Database (HGMD)
VPS13B

PCR Panel Products

  • Copy Number PCR Panels: for VPS13B

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

Disorders for VPS13B Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
cohen syndrome
  • coh1
hiatus hernia
  • hiatal hernia
trichorhinophalangeal syndrome, type i
  • trichorhinophalangeal syndrome type i
dubowitz syndrome
  • dubowitz's syndrome
epididymo-orchitis
- elite association

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 23 67
  2. 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 23 67
  3. Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome. (PMID: 19533689) Balikova I. … Vermeesch J.R. (Hum. Mutat. 2009) 23 67
  4. Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population. (PMID: 18655112) Bugiani M. … Petersen M.B. (Am. J. Med. Genet. A 2008) 23 67
  5. Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features. (PMID: 17383910) Taban M. … Traboulsi E.I. (J AAPOS 2007) 23 67

Products for VPS13B Gene

Sources for VPS13B Gene

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