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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ACD Gene

protein-coding   GIFtS: 53
GCID: GC16M067691

Adrenocortical Dysplasia Homolog (Mouse)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Adrenocortical Dysplasia Homolog (Mouse)1 2     TIN2 Interacting Protein 11 2
PIP12 3 5     TPP12 3
PTOP2 3 5     POT1 And TIN2-Interacting Protein2 3
TINT12 3 5     Adrenocortical Dysplasia Protein Homolog2
POT1 And TIN2 Organizing Protein1 2     

External Ids:    HGNC: 250701   Entrez Gene: 650572   Ensembl: ENSG000001029777   OMIM: 6093775   UniProtKB: Q96AP03   

Export aliases for ACD gene to outside databases

Previous GC identifers: GC16M066249 GC16M053564


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ACD Gene:
This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the
telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends.
Through its interaction with other components, this protein plays a key role in the assembly and stabilization of
this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding
different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from
the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. (provided by RefSeq, Jul 2008)

GeneCards Summary for ACD Gene: 
ACD (adrenocortical dysplasia homolog (mouse)) is a protein-coding gene. Diseases associated with ACD include hydronephrosis, and cerebrovascular disease, and among its related super-pathways are Meiotic Synapsis and Telomere Maintenance. GO annotations related to this gene include DNA binding and DNA polymerase binding.

UniProtKB/Swiss-Prot: ACD_HUMAN, Q96AP0
Function: Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and
protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects
chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance
and chromosome ends are inappropriately processed by DNA repair pathways. Promotes binding of POT1 to
single-stranded telomeric DNA. Modulates the inhibitory effects of POT1 on telomere elongation. The ACD-POT1
heterodimer enhances telomere elongation by increasing telomerase processivity. Plays a role in shelterin complex
assembly. May play a role in organogenesis

Gene Wiki entry for ACD Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010498.15  NC_018927.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ACD gene promoter:
         AREB6   Pax-5   AML1a   Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ACD promoter sequence
   Search SABiosciences Chromatin IP Primers for ACD

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACD


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q22.1   Ensembl cytogenetic band:  16q22.1   HGNC cytogenetic band: 16q22

ACD Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACD gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M067691:  view genomic region     (about GC identifiers)

Start:
67,691,415 bp from pter      End:
67,694,718 bp from pter
Size:
3,304 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ACD_HUMAN, Q96AP0 (See protein sequence)
Recommended Name: Adrenocortical dysplasia protein homolog  
Size: 544 amino acids; 57733 Da
Subunit: Component of the shelterin complex (telosome) composed of TERF1, TERF2, TINF2, TERF2IP ACD and POT1.
Forms heterodimers with POT1. Identified in a complex with POT1 and single-stranded telomeric DNA. Interacts with
STN1/OBFC1 and TINF2
Subcellular location: Nucleus. Chromosome, telomere
Sequence caution: Sequence=AAX82621.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
1 PDB 3D structure from and Proteopedia for ACD:
2I46 (3D)    
Secondary accessions: Q562H5 Q9H8F9
Alternative splicing: 2 isoforms:  Q96AP0-1   Q96AP0-2   

Explore the universe of human proteins at neXtProt for ACD: NX_Q96AP0

Explore proteomics data for ACD at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96AP0

  • ACD Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ACD Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001075955.1  NP_001075956.1  NP_075065.2  

    ENSEMBL proteins: 
     ENSP00000219251   ENSP00000473313   ENSP00000377496   ENSP00000473679   ENSP00000473595  
    Reactome Protein details: Q96AP0
    Human Recombinant Protein Products for ACD: 
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    OriGene Protein Over-expression Lysate for ACD
    OriGene MassSpec for ACD 
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    Novus Biologicals ACD Protein
    Novus Biologicals ACD Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ACD 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000781chromosome, telomeric region IDA15380063
    GO:0000783nuclear telomere cap complex IDA16880378
    GO:0005654nucleoplasm TAS--
    GO:0005697telomerase holoenzyme complex IEA--

    ACD for ontologies           About GeneDecksing



    ACD Antibody Products: 
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    Novus Biologicals ACD Antibodies
    Abcam antibodies for ACD
    Cloud-Clone Corp. Antibodies for ACD 
    Search ThermoFisher Antibodies for ACD
    LSBio Antibodies in human, mouse, rat for ACD 

    Assay Products for ACD: 
    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for ACD 
    Cloud-Clone Corp. CLIAs for ACD


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR021594 Telomere_Pot1

    Graphical View of Domain Structure for InterPro Entry Q96AP0

    ProtoNet protein and cluster: Q96AP0


    ACD for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACD_HUMAN, Q96AP0
    Function: Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and
    protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects
    chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance
    and chromosome ends are inappropriately processed by DNA repair pathways. Promotes binding of POT1 to
    single-stranded telomeric DNA. Modulates the inhibitory effects of POT1 on telomere elongation. The ACD-POT1
    heterodimer enhances telomere elongation by increasing telomerase processivity. Plays a role in shelterin complex
    assembly. May play a role in organogenesis

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15231715
    GO:0042162telomeric DNA binding IEA--
    GO:0070182DNA polymerase binding IPI17237767
         
    ACD for ontologies           About GeneDecksing


    Phenotypes:
         15 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Acd):
     behavior/neurological  cellular  craniofacial  digestive/alimentary  endocrine/exocrine gland 
     growth/size  hearing/vestibular/ear  homeostasis/metabolism  integument  limbs/digits/tail 
     mortality/aging  pigmentation  renal/urinary system  reproductive system  tumorigenesis 

    ACD for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Acdtm1.2Cek for ACD

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ACD 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ACD

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACD 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACD 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACD
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate ACD:
    hsa-miR-548am hsa-miR-548x
    SwitchGear 3'UTR luciferase reporter plasmidACD 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ACD
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    Gene Editing
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    Browse Sino Biological Human cDNA Clones
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                         Customized lentivirus expression plasmids for stable overexpression of ACD 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACD


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ACD About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Meiotic Synapsis
    Meiotic Synapsis0.70
    Chromosome Maintenance0.56
    Meiosis0.70
    2Packaging Of Telomere Ends
    Packaging Of Telomere Ends0.56
    Telomere Maintenance0.56
    3Cell Cycle
    Cell Cycle0.84
    4Regulation of Telomerase
    Regulation of Telomerase

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for ACD
        Regulation of Telomerase

    5/6        Reactome Pathways for ACD (see all 6)
        Telomere Maintenance
    Meiotic Synapsis
    Packaging Of Telomere Ends
    Cell Cycle
    Meiosis



    ACD for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ACD

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/95 Interacting proteins for ACD (Q96AP01, 2, 3 ENSP000003774964) via UniProtKB, MINT, STRING, and/or I2D (see all 95)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UPF1Q929002, 3, ENSP000002628034MINT-8286631 MINT-8286600 MINT-8286615 I2D: score=1 STRING: ENSP00000262803
    XRCC6P129562, 3MINT-65113 I2D: score=5 
    C6orf48Q9UBA63I2D: score=1 
    ENSG00000206380Q9UBA63I2D: score=1 
    ENSG00000226710Q9UBA63I2D: score=1 
    About this table

    Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000723telomere maintenance TAS--
    GO:0001501skeletal system development IEA--
    GO:0001655urogenital system development IEA--
    GO:0006886intracellular protein transport IMP15181449
    GO:0007004telomere maintenance via telomerase IEA--

    ACD for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ACD for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ACD

    1 Novoseek inferred chemical compound relationship for ACD gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tin(2+) 98.1 13 15316005 (3), 15380063 (3), 15383534 (3), 15231715 (2) (see all 6)

    Search CenterWatch for drugs/clinical trials and news about ACD

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ACD gene (3 alternative transcripts): 
    NM_001082486.1  NM_001082487.1  NM_022914.2  

    Unigene Cluster for ACD:

    Adrenocortical dysplasia homolog (mouse)
    Hs.78019  [show with all ESTs]
    Unigene Representative Sequence: NM_001082486
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000219251(uc002etp.4 uc002etq.4 uc002etr.4 uc010vjt.1)
    ENST00000602382 ENST00000393919 ENST00000602656 ENST00000602622 ENST00000602320
    ENST00000602860 ENST00000602850 ENST00000602945 ENST00000602519 ENST00000602423
    ENST00000602780 ENST00000602821
    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate ACD:
    hsa-miR-548am hsa-miR-548x
    SwitchGear 3'UTR luciferase reporter plasmidACD 3' UTR sequence
    Inhib. RNA
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    Clone
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    GenScript Custom all cDNA clones Services for ACD
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACD
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                         Customized lentivirus expression plasmids for stable overexpression of ACD 
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    OriGene qSTAR qPCR primer pairs in human, mouse for ACD
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ACD
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACD

    Additional mRNA sequence: 

    AF070535.1 AK023726.1 AK301090.1 AY502940.1 BC016904.1 

    13 DOTS entries:

    DT.312917  DT.95161809  DT.100016955  DT.95161808  DT.75126055  DT.100817189  DT.427457  DT.100817181 
    DT.120660503  DT.95161806  DT.100817182  DT.92436100  DT.97852587 

    24/221 AceView cDNA sequences (see all 221):

    AA295811 NM_022914 BU633539 CD364610 CR616320 BI832604 BX104813 BM918213 
    AL517551 BQ669484 AK023726 BI756687 AK125623 BG744354 BQ645796 CB989933 
    BE393922 CR603519 AI278567 BC016904 AA772175 BI752954 BX091130 BQ687392 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for ACD (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g · 1h · 1i ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^
    SP1:                                                                          -                 -           -     -     -                                       
    SP2:                                                        -                 -                 -           -     -     -                                       
    SP3:                                                                                            -           -     -     -                                       
    SP4:                                                                          -                 -           -     -     -                                       
    SP5:                                                                          -                 -                                                               

    ExUns: 10a · 10b ^ 11 ^ 12
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for ACD

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ACD expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGGCAAAAAA
    ACD Expression
    About this image


    See ACD Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACD

    SOURCE GeneReport for Unigene cluster: Hs.78019
        SABiosciences Expression via Pathway-Focused PCR Array including ACD: 
              Telomeres & Telomerase in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACD

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for ACD gene from 2/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acd1 , 5 adrenocortical dysplasia1, 5 76.12(n)1
    65.77(a)1
      8 (53.04 cM)5
    4976521  NM_001012638.11  NP_001012656.11 
     1056981595 
    chicken
    (Gallus gallus)
    Aves ACD6
    Uncharacterized protein
    20(a)
    1 ↔ 1
    11(1149085-1154559)


    ENSEMBL Gene Tree for ACD (if available)
    TreeFam Gene Tree for ACD (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ACD gene

    ACD for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for ACD
    PGOHUM00000238369 PGOHUM00000245719


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/52 SNPs in ACD are shown (see all 52)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0602254
    ----see VAR_0602252 V A mis40--------
    rs2002271161,2
    --67692039(+) ACATGA/GCTACG 6 S syn10--------
    rs2021047411,2
    C--67692098(+) GCTGGC/TGTGTG 6 T A mis10--------
    rs1473068631,2
    C--67692151(+) GTGAGG/TGCTGG 6 H P mis11Minor allele frequency- T:0.00NA 4514
    rs1471891921,2
    C,F--67692172(+) TCTGCC/TCTGGG 6 E G mis12Minor allele frequency- T:0.01NA EU 5699
    rs2002983081,2
    --67692233(+) TTCCTC/TGGATG 6 K E mis10--------
    rs1998569651,2
    --67692249(+) TGGCCA/GGGTAA 6 P syn10--------
    rs2019654771,2
    C--67692258(+) AAGGCC/TGGGGT 6 P syn10--------
    rs725491801,2
    F--67692373(-) TGCACG/AGTGGG 3 -- int16Minor allele frequency- A:0.02MN WA 526
    rs1827656271,2
    --67692397(+) CCTGCA/GCAGCC 3 -- int10--------

    HapMap Linkage Disequilibrium report for ACD (67691415 - 67694718 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for ACD:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv906809CNV Loss21882294
    dgv2890n71CNV Loss21882294
    dgv2891n71CNV Loss21882294
    nsv524363CNV Loss19592680
    nsv522852CNV Gain19592680

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609377    OMIM disorders: --

    4 diseases for ACD:    About MalaCards
    hydronephrosis    cerebrovascular disease    laryngitis    leukemia


    ACD for disorders           About GeneDecksing

    Genetic Association Database (GAD): ACD
    Human Genome Epidemiology (HuGE) Navigator: ACD (14 documents)

    Export disorders for ACD gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ACD gene, integrated from 9 sources (see all 47):
    (articles sorted by number of sources associating them with ACD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PTOP interacts with POT1 and regulates its localization to telomeres. (PubMed id 15181449)1, 2, 3, 9 Liu D....Songyang Z. (2004)
    2. POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex. (PubMed id 15231715)1, 2, 3, 9 Ye J.Z.-S.... de Lange T. (2004)
    3. TIN2 binds TRF1 and TRF2 simultaneously and stabilizes the TRF2 complex on telomeres. (PubMed id 15316005)1, 2, 9 Ye J.Z.-S.... de Lange T. (2004)
    4. Telosome, a mammalian telomere-associated complex formed by multiple telomeric proteins. (PubMed id 15383534)1, 2, 9 Liu D.... Songyang Z. (2004)
    5. Genetic variants in eleven telomere-associated genes and the risk of incident cardio/cerebrovascular disease: The Women's Genome Hea lth Study. (PubMed id 20937264)1, 4 Zee R.Y....Chasman D.I. (2011)
    6. OB fold-containing protein 1 (OBFC1), a human homolog of yeast Stn1, associates with TPP1 and is implicated in telomere length regulation. (PubMed id 19648609)1, 2 Wan M.... Liu D. (2009)
    7. Polymorphisms in telomere-associated genes, breast ca ncer susceptibility and prognosis. (PubMed id 19766477)1, 4 Varadi V....FAPrsti A. (2009)
    8. The POT1-TPP1 telomere complex is a telomerase processivity factor. (PubMed id 17237768)1, 2 Wang F....Lei M. (2007)
    9. Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes. (PubMed id 17466001)1, 4 Keegan C.E....Hammer G.D. (2007)
    10. A critical role for TPP1 and TIN2 interaction in high-order telomeric complex assembly. (PubMed id 16880378)1, 2 O'Connor M.S.... Songyang Z. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 65057 HGNC: 25070 AceView: PTOP Ensembl:ENSG00000102977 euGenes: HUgn65057
    ECgene: ACD H-InvDB: ACD

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ACD Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ACD gene:
    Search GeneIP for patents involving ACD

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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