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

HMP19 Gene

protein-coding   GIFtS: 44
GCID: GC05P173405

HMP19 Protein


  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
Protein P192 3     Neuron-Specific Protein Family Member 22
NSG22     P19 Protein2
HMP19 Protein2     Hmp193
Hypothalamus Golgi Apparatus Expressed 19 KDa Protein2     

External Ids:    Entrez Gene: 516172   Ensembl: ENSG000001700917   UniProtKB: Q9Y3283   

Export aliases for HMP19 gene to outside databases

Previous GC identifers: GC05P173730 GC05P174174 GC05P173408 GC05P173453 GC05P168568


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

GeneCards Summary for HMP19 Gene: 
HMP19 is a protein-coding gene. Diseases associated with HMP19 include neuronitis, and t-cell leukemia. GO annotations related to this gene include dopamine receptor binding. An important paralog of this gene is CALY.


(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_000005.9  NT_023133.13  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HMP19 gene promoter:
         Tal-1   MyoD   FOXD1   LCR-F1   E47   C/EBPalpha   SRY   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHMP19 promoter sequence
   Search SABiosciences Chromatin IP Primers for HMP19

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HMP19


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

Entrez Gene cytogenetic band: 5q35.2   Ensembl cytogenetic band:  5q35.2   

HMP19 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HMP19 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P173405:  view genomic region     (about GC identifiers)

Start:
173,472,607 bp from pter      End:
173,670,504 bp from pter
Size:
197,898 bases      Orientation:
plus 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: NSG2_HUMAN, Q9Y328 (See protein sequence)
Recommended Name: Neuron-specific protein family member 2  
Size: 171 amino acids; 19085 Da
Subcellular location: Cytoplasmic vesicle membrane; Single-pass type II membrane protein (By similarity). Golgi
apparatus, Golgi stack membrane; Single-pass type II membrane protein (By similarity). Endosome, multivesicular
body membrane; Single-pass type II membrane protein (By similarity). Note=Mainly Golgi stack, but also found in
small vacuolar organelles and multivesicular bodies (By similarity)
Secondary accessions: B2R5Y0 D3DQN0 Q9UHX8

Explore the universe of human proteins at neXtProt for HMP19: NX_Q9Y328

Explore proteomics data for HMP19 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y328

  • HMP19 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HMP19 Protein Expression
    REFSEQ proteins: NP_057064.1  
    ENSEMBL proteins: 
     ENSP00000307722   ENSP00000427809   ENSP00000429689   ENSP00000429863   ENSP00000430208  
     ENSP00000431119  

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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--
    GO:0030659cytoplasmic vesicle membrane IEA--
    GO:0032580Golgi cisterna membrane IEA--
    GO:0032585multivesicular body membrane IEA--

    HMP19 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR009431 calcyon_neuron-sp

    Graphical View of Domain Structure for InterPro Entry Q9Y328

    ProtoNet protein and cluster: Q9Y328

    1 Blocks protein domain: IPB009431 D1 dopamine receptor-interacting

    UniProtKB/Swiss-Prot: NSG2_HUMAN, Q9Y328
    Similarity: Belongs to the NSG family


    HMP19 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

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0032051clathrin light chain binding IEA--
         
    HMP19 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for HMP19:
     Decreased viability of wild-ty 

    Animal Models:
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    (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




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HMP19

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/15 Interacting proteins for HMP19 (Q9Y3282, 3 ENSP000003077224) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HCFC1R1Q9NWW02, 3, ENSP000002480894MINT-65807 I2D: score=3 STRING: ENSP00000248089
    STX18Q9P2W92, 3, ENSP000003058104MINT-65809 I2D: score=3 STRING: ENSP00000305810
    APOC1P026542, 3, ENSP000002524914MINT-8249025 I2D: score=2 STRING: ENSP00000252491
    NDUFA2O436782, 3, ENSP000002521024MINT-8263588 I2D: score=2 STRING: ENSP00000252102
    UCHL3P153742, 3, ENSP000003668194MINT-8276684 I2D: score=2 STRING: ENSP00000366819
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007212dopamine receptor signaling pathway IEA--
    GO:0048268clathrin coat assembly IEA--

    HMP19 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HMP19 (NSG2)

    Search CenterWatch for drugs/clinical trials and news about HMP19 / NSG2

    (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 HMP19 gene: 
    NM_015980.4  

    Unigene Cluster for HMP19:

    HMP19 protein
    Hs.559412  [show with all ESTs]
    Unigene Representative Sequence: AK098398
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000303177(uc003mcx.3 uc011dfh.2) ENST00000517902 ENST00000517587
    ENST00000519867 ENST00000521585 ENST00000521278 ENST00000519717 ENST00000521959
    ENST00000521146
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    8/37 QIAGEN miScript miRNA Assays for microRNAs that regulate HMP19 (see all 37):
    hsa-miR-142-5p hsa-miR-3685 hsa-miR-549 hsa-miR-19b-2* hsa-let-7a-2* hsa-miR-3613-3p hsa-miR-508-5p hsa-miR-532-5p
    SwitchGear 3'UTR luciferase reporter plasmidHMP19 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF113537.1 AF123767.1 AF133422.1 AK098398.1 AK294383.1 AK295206.1 AK297196.1 AK312359.1 
    AK315949.1 AK315952.1 BC002619.2 BC018873.2 CR457142.1 

    11 DOTS entries:

    DT.40236081  DT.100820676  DT.100820682  DT.91670850  DT.100820672  DT.100681429  DT.100663203  DT.95199638 
    DT.100654056  DT.100829964  DT.92445643 

    24/243 AceView cDNA sequences (see all 243):

    BX445130 AL537720 CD627354 BX464047 AA774158 CR598992 AL518442 Z38734 
    CB152402 BX461291 T09362 BX440976 AL536882 AL535568 AA457267 CB156687 
    BX418209 AL534735 T32091 BF516258 AL538105 D54712 AL532994 AI494598 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for HMP19    About this scheme

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



    (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

    HMP19 expression in normal human tissues (normalized intensities)      HMP19 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    HMP19 Expression
    About this image


    HMP19 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Endothelial Cells Blood Brain Barrier
             Thalamus
             Caudate nucleus   
     
     Neuron (Nervous System)    fully expand to see all 2 entries
             Human Neurons   
     
     Blood Brain Barrier (Nervous System)
             Endothelial Cells Blood Brain Barrier
     
     Peripheral Nervous System (Nervous System)
             PERIPHERAL NERVOUS SYSTEM   
     
     Endothelium (Cardiovascular System)
             Endothelial Cells Blood Brain Barrier

    See HMP19 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HMP19

    SOURCE GeneReport for Unigene cluster: Hs.559412
        SABiosciences Custom PCR Arrays for HMP19
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    (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 HMP19 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nsg21 , 5 neuron specific gene family member 21, 5 91.03(n)1
    97.08(a)1
      11 (18.72 cM)5
    181971  NM_008741.31  NP_032767.11 
     320004635 
    chicken
    (Gallus gallus)
    Aves LOC4162121 neuron-specific protein family member 2-like 76.22(n)
    83.04(a)
      416212  XM_001231713.2  XP_001231714.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    76(a)
    1 ↔ 1
    2(135706417-135785398)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc731422 hypothetical protein MGC73142 84.46(n)   393847  AY394975.1 


    ENSEMBL Gene Tree for HMP19 (if available)
    TreeFam Gene Tree for HMP19 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HMP19 gene
    CALY2  NSG12  
    4 SIMAP similar genes for HMP19 using alignment to 5 protein entries:     E5RGE8_HUMAN (see all proteins):
    NSG2    D4S234E    NSG1    CALY

    HMP19 for paralogs           About GeneDecksing



    (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

    10/1333 SNPs in HMP19 are shown (see all 1333)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs595338061,2
    --173470648(+) GTCTCG/TCTCTG 1 -- us2k10--------
    rs577551271,2
    C--173470831(+) AGGCTA/GGTCTC 1 -- us2k10--------
    rs1928804021,2
    --173470851(+) ACCTTA/GTGATC 1 -- us2k10--------
    rs1852297421,2
    --173470980(+) GGTATC/TAACCC 1 -- us2k10--------
    rs728147711,2
    C,F--173471004(+) TAGTTT/GGCAGA 1 -- us2k11Minor allele frequency- G:0.14NA 120
    rs1159048541,2
    F--173471178(+) ACAAGG/CGTTCA 1 -- us2k11Minor allele frequency- C:0.05WA 118
    rs1412711111,2
    --173471377(+) AATGTC/TTCTCT 1 -- us2k10--------
    rs716131061,2
    C,F--173471400(+) ACACAC/TGTGTC 1 -- us2k14Minor allele frequency- T:0.22NA 126
    rs1400690441,2
    C--173471405(+) CGTGT-/CCCCCC 1 -- us2k10--------
    rs1901213111,2
    --173471452(+) ACTTAC/TGTTTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for HMP19 (173472607 - 173670504 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for HMP19:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2731130CNV Deletion23290073
    esv990876CNV Deletion20482838
    esv2731129CNV Deletion23290073
    esv2731131CNV Deletion23290073
    esv1477078CNV Deletion17803354
    dgv113n17CNV Loss16327808
    nsv5137CNV Loss18451855

    SABiosciences Cancer Mutation PCR Assays
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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
    3 diseases for HMP19:    About MalaCards
    neuronitis    t-cell leukemia    leukemia


    HMP19 for disorders           About GeneDecksing

    Genetic Association Database (GAD): HMP19

    Export disorders for HMP19 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 HMP19 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with HMP19)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    2. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)1, 2 Hu R.-M.... Chen J.-L. (2000)
    3. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. (PubMed id 22589738)1 Fox C.S....Borecki I.B. (2012)
    4. Whole genome association scan for genetic polymorphis ms influencing information processing speed. (PubMed id 21130836)4 Luciano M....Deary I.J. (2011)
    5. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    6. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (2005)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    8. A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease. (PubMed id 15383276)1 Goehler H....Wanker E.E. (2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    10. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51617 AceView: HMP19 Ensembl:ENSG00000170091 euGenes: HUgn51617

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HMP19 gene:
    Search GeneIP for patents involving HMP19

    GeneCards and IP:
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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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