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Aliases for HMCN2 Gene

Aliases for HMCN2 Gene

  • Hemicentin 2 2 3 5
  • Hemicentin-2 3

External Ids for HMCN2 Gene

Previous GeneCards Identifiers for HMCN2 Gene

  • GC09P132213
  • GC09P133223
  • GC09P102707
  • GC09P133029

Summaries for HMCN2 Gene

GeneCards Summary for HMCN2 Gene

HMCN2 (Hemicentin 2) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is HMCN1.

Additional gene information for HMCN2 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 HMCN2 Gene

Genomics for HMCN2 Gene

GeneHancer (GH) Regulatory Elements for HMCN2 Gene

Promoters and enhancers for HMCN2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I130265 Promoter/Enhancer 1.5 EPDnew FANTOM5 Ensembl ENCODE 556.1 +0.5 537 2.1 BCOR MAZ ZSCAN4 SIN3A ZNF398 JUND POLR2A ATF3 ZNF143 ZBTB26 HMCN2 GC09M130264
GH09I130431 Enhancer 1.1 Ensembl ENCODE 11.7 +167.3 167295 2.3 FOXA2 SIN3A GLI4 ZNF48 YY1 GLIS2 ZNF143 RXRA REST ZNF592 HMCN2 FUBP3 ASS1 RN7SL665P
GH09I130424 Enhancer 0.9 Ensembl ENCODE 11.7 +160.3 160293 3.3 CTCF TFAP4 KLF17 MAX ZIC2 RAD21 ZFHX2 GLIS2 PATZ1 ZNF600 HMCN2 FUBP3 ASS1 RN7SL665P
GH09I130300 Enhancer 0.7 ENCODE 13.1 +35.7 35725 1.5 MAZ ZNF398 ZEB2 ZIC2 ATF2 PRDM2 HIC1 ZFP69B ZFHX2 ZNF366 HMCN2 LOC401554 NCS1 GC09M130264
GH09I130289 Enhancer 0.7 ENCODE 12.6 +24.6 24553 1.5 PKNOX1 MAZ ZNF10 USF2 ZNF384 ZNF398 MITF RAD51 ZNF23 CBFA2T2 HMCN2 PRDM12 GC09M130264
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HMCN2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HMCN2 gene promoter:

Genomic Locations for HMCN2 Gene

Genomic Locations for HMCN2 Gene
chr9:130,265,759-130,434,123
(GRCh38/hg38)
Size:
168,365 bases
Orientation:
Plus strand
chr9:133,046,882-133,309,510
(GRCh37/hg19)

Genomic View for HMCN2 Gene

Genes around HMCN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HMCN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HMCN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HMCN2 Gene

Proteins for HMCN2 Gene

  • Protein details for HMCN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NDA2-HMCN2_HUMAN
    Recommended name:
    Hemicentin-2
    Protein Accession:
    Q8NDA2
    Secondary Accessions:
    • A0A096LP30
    • Q8N225
    • Q8TCI8

    Protein attributes for HMCN2 Gene

    Size:
    5059 amino acids
    Molecular mass:
    541978 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB85069.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC04201.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAD38854.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=EAW87931.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for HMCN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HMCN2 Gene

Post-translational modifications for HMCN2 Gene

  • Glycosylation at posLast=329329, posLast=346346, isoforms=2, 3379, isoforms=2, 3478, posLast=525525, isoforms=2, 3547, posLast=674674, isoforms=2, 31024, posLast=12231223, isoforms=2, 31309, posLast=15071507, isoforms=2, 31533, posLast=16411641, isoforms=2, 31900, isoforms=2, 32000, isoforms=2, 32079, isoforms=2, 32085, posLast=22432243, isoforms=2, 32281, posLast=23612361, posLast=24352435, isoforms=2, 32468, posLast=25072507, posLast=25722572, isoforms=2, 32654, isoforms=2, 32858, posLast=29522952, posLast=33963396, posLast=35263526, isoforms=2, 33541, isoforms=2, 33683, isoforms=2, 33687, posLast=37723772, posLast=40684068, isoforms=34270, isoforms=4421, posLast=45674567, posLast=48104810, and posLast=50005000

No data available for DME Specific Peptides for HMCN2 Gene

Domains & Families for HMCN2 Gene

Gene Families for HMCN2 Gene

Suggested Antigen Peptide Sequences for HMCN2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with HMCN2: view

No data available for UniProtKB/Swiss-Prot for HMCN2 Gene

Function for HMCN2 Gene

Gene Ontology (GO) - Molecular Function for HMCN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with HMCN2: view
genes like me logo Genes that share phenotypes with HMCN2: view

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HMCN2 Gene

Localization for HMCN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HMCN2 Gene

Secreted, extracellular space, extracellular matrix. Cleavage furrow. Note=The antibody used to determine subcellular location does not distinguish between HMCN1 and HMCN2. {ECO:0000250 UniProtKB:A2AJ76}.

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 HMCN2 gene
Compartment Confidence
extracellular 4
nucleus 2
cytosol 2
plasma membrane 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HMCN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005604 basement membrane IEA --
GO:0005938 cell cortex IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with HMCN2: view

Pathways & Interactions for HMCN2 Gene

SuperPathways for HMCN2 Gene

No Data Available

Interacting Proteins for HMCN2 Gene

Gene Ontology (GO) - Biological Process for HMCN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006939 smooth muscle contraction IBA --
GO:0007155 cell adhesion IEA --
GO:0030335 positive regulation of cell migration IBA --
GO:0050896 response to stimulus IEA --
genes like me logo Genes that share ontologies with HMCN2: view

No data available for Pathways by source and SIGNOR curated interactions for HMCN2 Gene

Drugs & Compounds for HMCN2 Gene

No Compound Related Data Available

Transcripts for HMCN2 Gene

mRNA/cDNA for HMCN2 Gene

(10) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HMCN2 Gene

Hemicentin 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HMCN2 Gene

No ASD Table

Relevant External Links for HMCN2 Gene

GeneLoc Exon Structure for
HMCN2
ECgene alternative splicing isoforms for
HMCN2

Expression for HMCN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HMCN2 Gene

mRNA differential expression in normal tissues according to GTEx for HMCN2 Gene

This gene is overexpressed in Colon - Sigmoid (x9.2) and Small Intestine - Terminal Ileum (x4.4).

Protein differential expression in normal tissues from HIPED for HMCN2 Gene

This gene is overexpressed in Plasma (22.9), Serum (17.6), and Colon (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HMCN2 Gene



NURSA nuclear receptor signaling pathways regulating expression of HMCN2 Gene:

HMCN2

SOURCE GeneReport for Unigene cluster for HMCN2 Gene:

Hs.32194

Evidence on tissue expression from TISSUES for HMCN2 Gene

  • Intestine(4.2)
  • Muscle(2.7)
  • Liver(2.3)
  • Stomach(2)
genes like me logo Genes that share expression patterns with HMCN2: 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 HMCN2 Gene

Orthologs for HMCN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for HMCN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HMCN2 34
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HMCN2 33 34
  • 85.64 (n)
dog
(Canis familiaris)
Mammalia HMCN2 33 34
  • 85.24 (n)
mouse
(Mus musculus)
Mammalia Hmcn2 33 16 34
  • 81.39 (n)
rat
(Rattus norvegicus)
Mammalia Hmcn2 33
  • 81.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HMCN2 34
  • 66 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HMCN2 34
  • 10 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hmcn2 33
  • 57.74 (n)
zebrafish
(Danio rerio)
Actinopterygii hmcn2 34
  • 11 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea him-4 34
  • 3 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 21 (a)
OneToMany
Species where no ortholog for HMCN2 was found in the sources mined by GeneCards:
  • 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)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 HMCN2 Gene

ENSEMBL:
Gene Tree for HMCN2 (if available)
TreeFam:
Gene Tree for HMCN2 (if available)

Paralogs for HMCN2 Gene

Variants for HMCN2 Gene

Sequence variations from dbSNP and Humsavar for HMCN2 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000027245 -- 130,403,691(+) G/C genic_downstream_transcript_variant, intron_variant
rs1000040159 -- 130,363,205(+) A/C genic_upstream_transcript_variant, intron_variant
rs1000070783 -- 130,431,713(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000103153 -- 130,291,897(+) G/T genic_upstream_transcript_variant, intron_variant
rs1000107315 -- 130,327,859(+) C/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for HMCN2 Gene

Variant ID Type Subtype PubMed ID
esv2739102 CNV deletion 23290073
esv2739101 CNV deletion 23290073
esv2739100 CNV deletion 23290073
esv2739099 CNV deletion 23290073
esv2739098 CNV deletion 23290073
esv2668020 CNV deletion 23128226
esv2667751 CNV deletion 23128226
esv2664836 CNV deletion 23128226
esv2663591 CNV deletion 23128226
dgv496e215 CNV deletion 23714750
dgv4150n106 CNV deletion 24896259
dgv12910n54 CNV loss 21841781
dgv12909n54 CNV loss 21841781
dgv1239n67 CNV loss 20364138
nsv480056 CNV novel sequence insertion 20440878
nsv479635 CNV novel sequence insertion 20440878
nsv479334 CNV novel sequence insertion 20440878
nsv479098 CNV novel sequence insertion 20440878
nsv478210 CNV novel sequence insertion 20440878
nsv477024 CNV novel sequence insertion 20440878
nsv476227 CNV novel sequence insertion 20440878
nsv475814 CNV novel sequence insertion 20440878
nsv474054 CNV novel sequence insertion 20440878
nsv473943 CNV novel sequence insertion 20440878
nsv473381 CNV novel sequence insertion 20440878
nsv466596 CNV loss 19166990
nsv433505 CNV loss 18776910
nsv1141032 CNV deletion 24896259
nsv1139371 CNV deletion 24896259
nsv1132227 CNV deletion 24896259
nsv1124481 CNV deletion 24896259
esv3621860 CNV loss 21293372
esv3621858 CNV loss 21293372
esv27899 CNV loss 19812545
nsv831733 CNV loss 17160897
nsv825118 CNV loss 20364138
nsv818727 CNV gain 17921354
nsv6733 CNV deletion 18451855
nsv615522 CNV loss 21841781
nsv615521 CNV loss 21841781
nsv615505 CNV loss 21841781
nsv528828 CNV loss 19592680
nsv522297 CNV loss 19592680
nsv515127 CNV loss 21397061
nsv481565 CNV novel sequence insertion 20440878
nsv481524 CNV novel sequence insertion 20440878
nsv481201 CNV novel sequence insertion 20440878
nsv480505 CNV novel sequence insertion 20440878

Variation tolerance for HMCN2 Gene

Gene Damage Index Score: 9.72; 89.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HMCN2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HMCN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HMCN2 Gene

Disorders for HMCN2 Gene

Additional Disease Information for HMCN2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for HMCN2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HMCN2 Gene

Publications for HMCN2 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Extracellular matrix remodelling in response to venous hypertension: proteomics of human varicose veins. (PMID: 27068509) Barallobre-Barreiro J … Mayr M (Cardiovascular research 2016) 3 58
  4. SR protein kinases promote splicing of nonconsensus introns. (PMID: 26167880) Lipp JJ … Guthrie C (Nature structural & molecular biology 2015) 3 58
  5. Global analysis of host-pathogen interactions that regulate early-stage HIV-1 replication. (PMID: 18854154) König R … Chanda SK (Cell 2008) 3 58

Products for HMCN2 Gene

Sources for HMCN2 Gene

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