Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ARL6IP6 Gene

Aliases for ARL6IP6 Gene

  • ADP Ribosylation Factor Like GTPase 6 Interacting Protein 6 2 3 5
  • ADP-Ribosylation Factor-Like 6 Interacting Protein 6 2 3
  • Phosphonoformate Immuno-Associated Protein 1 3 4
  • ARL-6-Interacting Protein 6 3 4
  • PFAAP1 3 4
  • AIP-6 3 4
  • ADP-Ribosylation Factor-Like Protein 6-Interacting Protein 6 3
  • ADP-Ribosylation Factor GTPase 6 Interacting Protein 6 3
  • ADP-Ribosylation-Like Factor 6 Interacting Protein 6 3
  • Regulated By Phosphonoformate 3
  • AIP6 3

External Ids for ARL6IP6 Gene

Previous GeneCards Identifiers for ARL6IP6 Gene

  • GC02P153400
  • GC02P153282
  • GC02P153574
  • GC02P145460

Summaries for ARL6IP6 Gene

GeneCards Summary for ARL6IP6 Gene

ARL6IP6 (ADP Ribosylation Factor Like GTPase 6 Interacting Protein 6) is a Protein Coding gene. Diseases associated with ARL6IP6 include Cutis Marmorata Telangiectatica Congenita.

Additional gene information for ARL6IP6 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARL6IP6 Gene

Genomics for ARL6IP6 Gene

Regulatory Elements for ARL6IP6 Gene

Enhancers for ARL6IP6 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
GH02H152715 1.2 ENCODE 16.3 +0.0 16 4 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF766 PRPF40A RPL30P2 STAM2 ARL6IP6
GH02H151826 1.1 ENCODE 13 -890.0 -889999 2 HDGF FOXA2 MLX ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 CBX5 PRPF40A STAM2 RIF1 ARL6IP6 RPL30P2 NEB ARL5A PIR49049
GH02H152593 1.5 FANTOM5 Ensembl ENCODE dbSUPER 5.4 -123.2 -123224 1 PKNOX1 ZNF687 L3MBTL2 ETV1 MAX ZNF175 GABPA ZNF589 ELK1 NFE2 ARL6IP6 PRPF40A GC02M152585 GC02M152586 LOC105373690
GH02H152730 1 Ensembl ENCODE 7.5 +13.0 13008 1 SOX13 FOXA2 MAX CEBPG BMI1 MTA3 CTBP1 GATA3 POLR2A RCOR1 PRPF40A ARL6IP6 GC02P152749
GH02H152452 1.1 FANTOM5 ENCODE dbSUPER 4.3 -264.2 -264248 3 SOX5 SOX13 POLR2A HOMEZ FMNL2 ARL6IP6 CACNB4 NUDCP1 ENSG00000270776
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ARL6IP6 on UCSC Golden Path with GeneCards custom track

Promoters for ARL6IP6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000124796 107 4001 DMAP1 YY1 ZNF143 SP3 NFYC ZC3H11A SSRP1 NR2C1 NBN KDM1A

Genomic Location for ARL6IP6 Gene

Chromosome:
2
Start:
152,717,893 bp from pter
End:
152,761,253 bp from pter
Size:
43,361 bases
Orientation:
Plus strand

Genomic View for ARL6IP6 Gene

Genes around ARL6IP6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARL6IP6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARL6IP6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARL6IP6 Gene

Proteins for ARL6IP6 Gene

  • Protein details for ARL6IP6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N6S5-AR6P6_HUMAN
    Recommended name:
    ADP-ribosylation factor-like protein 6-interacting protein 6
    Protein Accession:
    Q8N6S5
    Secondary Accessions:
    • B2RDS6
    • Q7Z4G7

    Protein attributes for ARL6IP6 Gene

    Size:
    226 amino acids
    Molecular mass:
    24676 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ARL6IP6 Gene

Post-translational modifications for ARL6IP6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ARL6IP6 Gene

No data available for DME Specific Peptides for ARL6IP6 Gene

Domains & Families for ARL6IP6 Gene

Gene Families for ARL6IP6 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for ARL6IP6 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ARL6IP6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N6S5

UniProtKB/Swiss-Prot:

AR6P6_HUMAN :
  • Belongs to the ARL6IP6 family.
Family:
  • Belongs to the ARL6IP6 family.
genes like me logo Genes that share domains with ARL6IP6: view

Function for ARL6IP6 Gene

genes like me logo Genes that share phenotypes with ARL6IP6: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ARL6IP6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ARL6IP6 Gene

Localization for ARL6IP6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARL6IP6 Gene

Membrane; Multi-pass membrane protein.

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 ARL6IP6 gene
Compartment Confidence
plasma membrane 3
cytoskeleton 2
nucleus 2
cytosol 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARL6IP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ARL6IP6: view

Pathways & Interactions for ARL6IP6 Gene

SuperPathways for ARL6IP6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ARL6IP6 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ARL6IP6 Gene

Drugs & Compounds for ARL6IP6 Gene

No Compound Related Data Available

Transcripts for ARL6IP6 Gene

Unigene Clusters for ARL6IP6 Gene

ADP-ribosylation-like factor 6 interacting protein 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ARL6IP6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for ARL6IP6 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e
SP1: - -
SP2: - -
SP3: - - - - -
SP4: - - -
SP5: - - - -
SP6: -

Relevant External Links for ARL6IP6 Gene

GeneLoc Exon Structure for
ARL6IP6
ECgene alternative splicing isoforms for
ARL6IP6

Expression for ARL6IP6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ARL6IP6 Gene

Protein differential expression in normal tissues from HIPED for ARL6IP6 Gene

This gene is overexpressed in Monocytes (17.7), Lung (6.9), CD8 Tcells (6.2), and Peripheral blood mononuclear cells (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ARL6IP6 Gene



Protein tissue co-expression partners for ARL6IP6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ARL6IP6 Gene:

ARL6IP6

SOURCE GeneReport for Unigene cluster for ARL6IP6 Gene:

Hs.744874

Evidence on tissue expression from TISSUES for ARL6IP6 Gene

  • Nervous system(4.4)
  • Lung(4.3)
genes like me logo Genes that share expression patterns with ARL6IP6: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARL6IP6 Gene

Orthologs for ARL6IP6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ARL6IP6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARL6IP6 33 34
  • 99.56 (n)
cow
(Bos Taurus)
Mammalia ARL6IP6 33 34
  • 86.28 (n)
mouse
(Mus musculus)
Mammalia Arl6ip6 33 16 34
  • 83.85 (n)
rat
(Rattus norvegicus)
Mammalia Arl6ip6 33
  • 81.98 (n)
dog
(Canis familiaris)
Mammalia ARL6IP6 33 34
  • 81.61 (n)
oppossum
(Monodelphis domestica)
Mammalia ARL6IP6 34
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARL6IP6 34
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arl6ip6 33
  • 60.49 (n)
Str.10183 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.16810 33
zebrafish
(Danio rerio)
Actinopterygii arl6ip6 34
  • 46 (a)
OneToOne
Species where no ortholog for ARL6IP6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for ARL6IP6 Gene

ENSEMBL:
Gene Tree for ARL6IP6 (if available)
TreeFam:
Gene Tree for ARL6IP6 (if available)

Paralogs for ARL6IP6 Gene

Pseudogenes.org Pseudogenes for ARL6IP6 Gene

genes like me logo Genes that share paralogs with ARL6IP6: view

No data available for Paralogs for ARL6IP6 Gene

Variants for ARL6IP6 Gene

Sequence variations from dbSNP and Humsavar for ARL6IP6 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs867616255 Uncertain significance 152,718,816(+) GCGTG(A/G)TCAGA intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, stop-gained
rs1000010697 -- 152,752,199(+) CCCTC(C/T)ACCCT intron-variant
rs1000037764 -- 152,760,299(+) TACTC(C/T)GACTT nc-transcript-variant, utr-variant-3-prime
rs1000046795 -- 152,720,394(+) GCTGG(C/T)AAATT intron-variant
rs1000169314 -- 152,745,966(+) TTCCA(G/T)AAAGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ARL6IP6 Gene

Variant ID Type Subtype PubMed ID
esv34659 CNV loss 17911159
esv3592922 CNV loss 21293372
esv996049 CNV insertion 20482838
nsv1120385 CNV tandem duplication 24896259
nsv1132891 CNV insertion 24896259
nsv7331 OTHER inversion 18451855
nsv834421 CNV loss 17160897
nsv834422 CNV gain 17160897

Variation tolerance for ARL6IP6 Gene

Residual Variation Intolerance Score: 58.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.81; 34.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ARL6IP6 Gene

Human Gene Mutation Database (HGMD)
ARL6IP6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARL6IP6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARL6IP6 Gene

Disorders for ARL6IP6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ARL6IP6 Gene - From: HGMD and GeneCards

Disorder Aliases PubMed IDs
cutis marmorata telangiectatica congenita
  • cmtc
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ARL6IP6

Genetic Association Database (GAD)
ARL6IP6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ARL6IP6
genes like me logo Genes that share disorders with ARL6IP6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARL6IP6 Gene

Publications for ARL6IP6 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 60
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60
  5. ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita. (PMID: 25957586) Abumansour IS … Alkuraya FS (Human genetics 2015) 3 60

Products for ARL6IP6 Gene

Sources for ARL6IP6 Gene

Content
Loading form....