NIPSNAP3B belongs to a family of proteins with putative roles in vesicular trafficking (Buechler et al., 2004 [PubMed 15177564]).[supplied by OMIM, Mar 2008] See more...

Aliases for NIPSNAP3B Gene

Aliases for NIPSNAP3B Gene

  • Nipsnap Homolog 3B 2 3 5
  • Protein NipSnap Homolog 3B 3 4
  • NIPSNAP3 3 4
  • SNAP1 3 4
  • Nipsnap Homolog 3B (C. Elegans) 2
  • NipSnap3B 4
  • FLJ11275 2
  • FP944 3

External Ids for NIPSNAP3B Gene

Previous GeneCards Identifiers for NIPSNAP3B Gene

  • GC09P102906
  • GC09P104606
  • GC09P106566
  • GC09P107526
  • GC09P077128

Summaries for NIPSNAP3B Gene

Entrez Gene Summary for NIPSNAP3B Gene

  • NIPSNAP3B belongs to a family of proteins with putative roles in vesicular trafficking (Buechler et al., 2004 [PubMed 15177564]).[supplied by OMIM, Mar 2008]

GeneCards Summary for NIPSNAP3B Gene

NIPSNAP3B (Nipsnap Homolog 3B) is a Protein Coding gene. Diseases associated with NIPSNAP3B include Ischemic Neuropathy and Splenic Artery Aneurysm. An important paralog of this gene is NIPSNAP3A.

Additional gene information for NIPSNAP3B Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NIPSNAP3B Gene

Genomics for NIPSNAP3B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NIPSNAP3B Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J104763 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 610.4 +0.7 660 2.4 FOXA1 RBFOX2 PATZ1 NR2C1 POLR2A SCRT2 KMT2B NONO KLF9 MGA NIPSNAP3B NIPSNAP3A RALGAPA1P1 FKTN lnc-NIPSNAP3B-2 ABCA1
GH09J104754 Promoter 0.3 EPDnew 600.4 -9.2 -9155 0.1 NIPSNAP3B NIPSNAP3A
GH09J104772 Enhancer 1.1 ENCODE dbSUPER 0.4 +11.1 11082 3.8 SP1 ZNF512 LEF1 IKZF1 POLR2A JUND DDX20 MTA2 PHF21A PKNOX1 lnc-NIPSNAP3B-2 NIPSNAP3A NIPSNAP3B piR-33804-159 ABCA1
GH09J104758 Enhancer 0.6 Ensembl ENCODE 0.7 -4.4 -4383 1.1 ATF2 EZH2 CREB1 NIPSNAP3A NIPSNAP3B
GH09J104779 Enhancer 1 Ensembl ENCODE dbSUPER 0.4 +17.4 17360 3.4 CTCF REST RAD21 TRIM22 CEBPB RBM22 JUND NR2F2 FOSL2 RFX5 NIPSNAP3A lnc-NIPSNAP3B-2 NIPSNAP3B piR-33804-159 ABCA1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NIPSNAP3B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NIPSNAP3B

Top Transcription factor binding sites by QIAGEN in the NIPSNAP3B gene promoter:
  • c-Myb
  • C/EBPalpha
  • CHOP-10
  • COMP1
  • Evi-1
  • Nkx6-1
  • POU3F2
  • PPAR-gamma1
  • PPAR-gamma2
  • TGIF

Genomic Locations for NIPSNAP3B Gene

Genomic Locations for NIPSNAP3B Gene
14,024 bases
Plus strand
13,301 bases
Plus strand

Genomic View for NIPSNAP3B Gene

Genes around NIPSNAP3B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NIPSNAP3B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NIPSNAP3B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NIPSNAP3B Gene

Proteins for NIPSNAP3B Gene

  • Protein details for NIPSNAP3B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein NipSnap homolog 3B
    Protein Accession:
    Secondary Accessions:
    • Q5VX30
    • Q9NUM2

    Protein attributes for NIPSNAP3B Gene

    247 amino acids
    Molecular mass:
    28313 Da
    Quaternary structure:
    No Data Available

neXtProt entry for NIPSNAP3B Gene

Post-translational modifications for NIPSNAP3B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NIPSNAP3B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NIPSNAP3B Gene

Domains & Families for NIPSNAP3B Gene

Gene Families for NIPSNAP3B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for NIPSNAP3B Gene


Suggested Antigen Peptide Sequences for NIPSNAP3B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the NipSnap family.
  • Belongs to the NipSnap family.
genes like me logo Genes that share domains with NIPSNAP3B: view

Function for NIPSNAP3B Gene

Phenotypes From GWAS Catalog for NIPSNAP3B Gene

genes like me logo Genes that share phenotypes with NIPSNAP3B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NIPSNAP3B

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NIPSNAP3B Gene

Localization for NIPSNAP3B Gene

Subcellular locations from

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 NIPSNAP3B gene
Compartment Confidence
mitochondrion 4
plasma membrane 1
extracellular 1
cytoskeleton 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for NIPSNAP3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA 21873635
genes like me logo Genes that share ontologies with NIPSNAP3B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for NIPSNAP3B Gene

Pathways & Interactions for NIPSNAP3B Gene

PathCards logo

SuperPathways for NIPSNAP3B Gene

No Data Available

Interacting Proteins for NIPSNAP3B Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 13)
STRING Interaction Network
Selected Interacting proteins: ENSP00000363894 Q9BS92-NPS3B_HUMAN for NIPSNAP3B Gene via STRING IID

Gene Ontology (GO) - Biological Process for NIPSNAP3B Gene


No data available for Pathways by source and SIGNOR curated interactions for NIPSNAP3B Gene

Drugs & Compounds for NIPSNAP3B Gene

No Compound Related Data Available

Transcripts for NIPSNAP3B Gene


10 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NIPSNAP3B

Alternative Splicing Database (ASD) splice patterns (SP) for NIPSNAP3B Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8
SP1: - -
SP2: -
SP3: - - -

Relevant External Links for NIPSNAP3B Gene

GeneLoc Exon Structure for

Expression for NIPSNAP3B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NIPSNAP3B Gene

mRNA differential expression in normal tissues according to GTEx for NIPSNAP3B Gene

This gene is overexpressed in Heart - Left Ventricle (x4.4) and Muscle - Skeletal (x4.4).

Protein differential expression in normal tissues from HIPED for NIPSNAP3B Gene

This gene is overexpressed in Heart (26.7), Fetal heart (15.6), Brain (6.1), and Frontal cortex (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NIPSNAP3B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NIPSNAP3B

SOURCE GeneReport for Unigene cluster for NIPSNAP3B Gene:


Evidence on tissue expression from TISSUES for NIPSNAP3B Gene

  • Muscle(4.4)
  • Heart(4.4)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with NIPSNAP3B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NIPSNAP3B Gene

Orthologs for NIPSNAP3B Gene

This gene was present in the common ancestor of chordates.

Orthologs for NIPSNAP3B Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia NIPSNAP3B 30 31
  • 99.19 (n)
(Canis familiaris)
Mammalia NIPSNAP3A 30
  • 87.85 (n)
(Mus musculus)
Mammalia Nipsnap3b 31
  • 78 (a)
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 74 (a)
(Monodelphis domestica)
Mammalia -- 31
  • 64 (a)
(Gallus gallus)
Aves -- 31
  • 64 (a)
(Anolis carolinensis)
Reptilia -- 31
  • 57 (a)
(Danio rerio)
Actinopterygii nipsnap3 31
  • 52 (a)
zgc56466 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8944 31
  • 34 (a)
Species where no ortholog for NIPSNAP3B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • Cow (Bos Taurus)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for NIPSNAP3B Gene

Gene Tree for NIPSNAP3B (if available)
Gene Tree for NIPSNAP3B (if available)
Evolutionary constrained regions (ECRs) for NIPSNAP3B: view image

Paralogs for NIPSNAP3B Gene

Paralogs for NIPSNAP3B Gene

(1) SIMAP similar genes for NIPSNAP3B Gene using alignment to 3 proteins:

  • F2Z3L7_HUMAN
  • L8EA27_HUMAN
genes like me logo Genes that share paralogs with NIPSNAP3B: view

Variants for NIPSNAP3B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NIPSNAP3B Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
778962 Benign: not provided 104,773,004(+) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
rs10761084 - p.Ala94Pro
rs3739740 - p.Lys154Glu
rs3739741 - p.Ala159Gly

Additional dbSNP identifiers (rs#s) for NIPSNAP3B Gene

Structural Variations from Database of Genomic Variants (DGV) for NIPSNAP3B Gene

Variant ID Type Subtype PubMed ID
esv2666191 CNV deletion 23128226
esv3621343 CNV loss 21293372
esv3621344 CNV loss 21293372
esv3891705 CNV loss 25118596
esv3891706 CNV gain 25118596
nsv521783 CNV loss 19592680

Variation tolerance for NIPSNAP3B Gene

Residual Variation Intolerance Score: 89.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.05; 96.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NIPSNAP3B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NIPSNAP3B Gene

Disorders for NIPSNAP3B Gene

MalaCards: The human disease database

(3) MalaCards diseases for NIPSNAP3B Gene - From: DISEASES

Disorder Aliases PubMed IDs
ischemic neuropathy
  • ischemic peripheral neuropathy
splenic artery aneurysm
  • aneurysm of splenic artery
3-methylglutaconic aciduria, type i
  • mgca1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NIPSNAP3B

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with NIPSNAP3B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NIPSNAP3B Gene

Publications for NIPSNAP3B Gene

  1. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Expression pattern and raft association of NIPSNAP3 and NIPSNAP4, highly homologous proteins encoded by genes in close proximity to the ATP-binding cassette transporter A1. (PMID: 15177564) Buechler C … Schmitz G (Genomics 2004) 3 23
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3

Products for NIPSNAP3B Gene

Sources for NIPSNAP3B Gene