HEPACAM2 Gene (Protein Coding)

HEPACAM Family Member 2

GC07M093188
GIFtS:
32
This gene encodes a protein related to the immunoglobulin superfamily that plays a role in mitosis. Knockdown of this gene results in prometaphase arrest, abnormal nuclear morphology and apoptosis. Poly(ADP-ribosylation) of the encoded protein promotes its translocation to centrosomes, which may stimulate centrosome maturation. A chromosomal deletion including this gene may be ... See more...

Aliases for HEPACAM2 Gene

Aliases for HEPACAM2 Gene

  • HEPACAM Family Member 2 2 3 4 5
  • Mitotic Kinetics Regulator 3 4
  • MIKI 3 4
  • HEPACAM2 5
  • FLJ38683 2

External Ids for HEPACAM2 Gene

Previous GeneCards Identifiers for HEPACAM2 Gene

  • GC07M092656
  • GC07M092817
  • GC07M087426

Summaries for HEPACAM2 Gene

Entrez Gene Summary for HEPACAM2 Gene

  • This gene encodes a protein related to the immunoglobulin superfamily that plays a role in mitosis. Knockdown of this gene results in prometaphase arrest, abnormal nuclear morphology and apoptosis. Poly(ADP-ribosylation) of the encoded protein promotes its translocation to centrosomes, which may stimulate centrosome maturation. A chromosomal deletion including this gene may be associated with myeloid leukemia and myelodysplastic syndrome in human patients. [provided by RefSeq, Oct 2016]

GeneCards Summary for HEPACAM2 Gene

HEPACAM2 (HEPACAM Family Member 2) is a Protein Coding gene. Diseases associated with HEPACAM2 include Retinitis Pigmentosa 32 and Myelodysplastic Syndrome. An important paralog of this gene is HEPACAM.

UniProtKB/Swiss-Prot Summary for HEPACAM2 Gene

  • Required during prometaphase for centrosome maturation. Following poly-ADP-ribosylation (PARsylation) by TNKS, translocates from the Golgi apparatus to mitotic centrosomes and plays a key role in the formation of robust microtubules for prompt movement of chromosomes: anchors AKAP9/CG-NAP, a scaffold protein of the gamma-tubulin ring complex and promotes centrosome maturation.

Additional gene information for HEPACAM2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HEPACAM2 Gene

Genomics for HEPACAM2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for HEPACAM2 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
GH07J093231 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 -0.1 -52 2.5 CEBPG CREB1 GATAD2A PRDM10 ZNF629 REST TFE3 SIX5 LEF1 IKZF1 VPS50 HEPACAM2 KRIT1 PEX1 BET1-AS1 GATAD1 SAMD9L FAM133B BET1 piR-41880-027
GH07J093219 Promoter/Enhancer 1.1 EPDnew Ensembl 600.4 +12.6 12592 1 LEF1 IKZF1 JUND PKNOX1 REST DPF2 SOX6 EP300 SCRT2 HMBOX1 HEPACAM2 piR-56883-178 SAMD9L
GH07J093165 Enhancer 0.9 FANTOM5 Ensembl ENCODE 10.6 +66.5 66492 1.6 RELA ARID3A DPF2 RELB CEBPB CEBPG TBX21 ATF7 MTA2 SPI1 HEPACAM2 SAMD9 VPS50 piR-46256-049 SAMD9L
GH07J093194 Enhancer 0.4 Ensembl 12.4 +37.7 37710 0.4 CEBPB BHLHE40 FOS HEPACAM2 VPS50 MIR489 MIR653 FAM133B piR-56883-178 SAMD9L
GH07J093196 Enhancer 0.3 Ensembl 11.9 +35.6 35592 1 SPI1 HEPACAM2 VPS50 SAMD9L piR-56883-178
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HEPACAM2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HEPACAM2

Top Transcription factor binding sites by QIAGEN in the HEPACAM2 gene promoter:
  • aMEF-2
  • MEF-2A
  • Nkx2-5
  • Nkx3-1
  • Pax-6
  • Sox5

Genomic Locations for HEPACAM2 Gene

Genomic Locations for HEPACAM2 Gene
chr7:93,188,534-93,232,293
(GRCh38/hg38)
Size:
43,760 bases
Orientation:
Minus strand
chr7:92,817,899-92,855,837
(GRCh37/hg19)
Size:
37,939 bases
Orientation:
Minus strand

Genomic View for HEPACAM2 Gene

Genes around HEPACAM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HEPACAM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HEPACAM2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for HEPACAM2 Gene

Proteins for HEPACAM2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for HEPACAM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A8MVW5-HECA2_HUMAN
    Recommended name:
    HEPACAM family member 2
    Protein Accession:
    A8MVW5
    Secondary Accessions:
    • B3KTT4
    • B4DPJ1
    • B9EG93
    • E9PDV5
    • Q6UXI0

    Protein attributes for HEPACAM2 Gene

    Size:
    462 amino acids
    Molecular mass:
    51407 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for HEPACAM2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HEPACAM2 Gene

Post-translational modifications for HEPACAM2 Gene

  • Poly-ADP-ribosylated (PARsylated) by tankyrase TNKS during late G2 and prophase, leading to translocation to mitotic centrosomes.
  • N-glycosylated.
  • Glycosylation at Asn85, Asn129, Asn165, Asn216, Asn288, and Asn320
  • Modification sites at PhosphoSitePlus

Other Protein References for HEPACAM2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Boster Bio Antibodies for HEPACAM2

Protein Products

  • Novus Biologicals proteins for HEPACAM2

No data available for DME Specific Peptides for HEPACAM2 Gene

Domains & Families for HEPACAM2 Gene

Gene Families for HEPACAM2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for HEPACAM2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HEPACAM2 Gene

GenScript: Design optimal peptide antigens:
  • HEPACAM family member 2 (HECA2_HUMAN)
genes like me logo Genes that share domains with HEPACAM2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for HEPACAM2 Gene

Function for HEPACAM2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for HEPACAM2 Gene

UniProtKB/Swiss-Prot Function:
Required during prometaphase for centrosome maturation. Following poly-ADP-ribosylation (PARsylation) by TNKS, translocates from the Golgi apparatus to mitotic centrosomes and plays a key role in the formation of robust microtubules for prompt movement of chromosomes: anchors AKAP9/CG-NAP, a scaffold protein of the gamma-tubulin ring complex and promotes centrosome maturation.

Phenotypes From GWAS Catalog for HEPACAM2 Gene

Gene Ontology (GO) - Molecular Function for HEPACAM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22864114
genes like me logo Genes that share ontologies with HEPACAM2: view
genes like me logo Genes that share phenotypes with HEPACAM2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for HEPACAM2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HEPACAM2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HEPACAM2 Gene

Localization for HEPACAM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HEPACAM2 Gene

Golgi apparatus membrane. Single-pass type I membrane protein. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Midbody. Note=In interphase, localizes to the Golgi apparatus. Localizes to centrosomes and spindles during prophase, prometaphase, and metaphase of mitosis, and to midbodies at telophase. Translocation to mitotic centrosomes is the result of poly-ADP-ribosylation (PARsylation). {ECO:0000269 PubMed:19358830, ECO:0000269 PubMed:22864114}.

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 HEPACAM2 gene
Compartment Confidence
cytoskeleton 5
golgi apparatus 5
nucleus 4
plasma membrane 3
extracellular 1
mitochondrion 1
endosome 1
cytosol 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitotic spindle (3)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HEPACAM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IBA,IDA 22864114
GO:0005813 centrosome IBA,IDA 22864114
genes like me logo Genes that share ontologies with HEPACAM2: view

Pathways & Interactions for HEPACAM2 Gene

PathCards logo

SuperPathways for HEPACAM2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HEPACAM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0007098 centrosome cycle IMP 22864114
GO:0051301 cell division IEA --
genes like me logo Genes that share ontologies with HEPACAM2: view

No data available for Pathways by source and SIGNOR curated interactions for HEPACAM2 Gene

Drugs & Compounds for HEPACAM2 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for HEPACAM2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for HEPACAM2 Gene

5 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
5 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 HEPACAM2

Alternative Splicing Database (ASD) splice patterns (SP) for HEPACAM2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1: - -
SP2: -
SP3:

Relevant External Links for HEPACAM2 Gene

GeneLoc Exon Structure for
HEPACAM2

Expression for HEPACAM2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HEPACAM2 Gene

mRNA expression in normal human tissues for HEPACAM2 Gene
mRNA expression by BioGPS for HEPACAM2 GenemRNA expression by GTEx for HEPACAM2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HEPACAM2 Gene

This gene is overexpressed in Colon - Transverse (x22.6), Small Intestine - Terminal Ileum (x9.0), Pituitary (x5.7), and Kidney - Cortex (x5.0).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HEPACAM2

SOURCE GeneReport for Unigene cluster for HEPACAM2 Gene:

Hs.443169

mRNA Expression by UniProt/SwissProt for HEPACAM2 Gene:

A8MVW5-HECA2_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for HEPACAM2 Gene

  • Kidney(4.3)
genes like me logo Genes that share expression patterns with HEPACAM2: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for HEPACAM2 Gene

Orthologs for HEPACAM2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HEPACAM2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia HEPACAM2 30 31
  • 99.71 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia HEPACAM2 30 31
  • 89.58 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia HEPACAM2 30 31
  • 88.99 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Hepacam2 30 17 31
  • 85.28 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Hepacam2 30
  • 84.05 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia HEPACAM2 31
  • 57 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves HEPACAM2 30 31
  • 71.51 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia HEPACAM2 31
  • 62 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia hepacam2 30
  • 65.5 (n)
Zebrafish
(Danio rerio)
 Actinopterygii LOC558612 30
  • 48.53 (n)
hepacam2 31
  • 35 (a)
 OneToOne
Species where no ortholog for HEPACAM2 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)
  • 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)
  • Oppossum (Monodelphis domestica)
  • 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 Vase (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 HEPACAM2 Gene

ENSEMBL:
Gene Tree for HEPACAM2 (if available)
TreeFam:
Gene Tree for HEPACAM2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HEPACAM2: view image

Paralogs for HEPACAM2 Gene

Variants for HEPACAM2 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HEPACAM2 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
753772 Likely Benign: not provided 93,219,137(-) G/A SYNONYMOUS_VARIANT
776240 Benign: not provided 93,215,506(-) G/A MISSENSE_VARIANT
788540 Benign: not provided 93,225,924(-) C/T MISSENSE_VARIANT,INTRON_VARIANT
rs193921119 Uncertain Significance: Malignant tumor of prostate 93,219,492(-) C/T INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT,INTRON_VARIANT
VAR_042976 A breast cancer sample p.Gly31Arg

Additional dbSNP identifiers (rs#s) for HEPACAM2 Gene

Structural Variations from Database of Genomic Variants (DGV) for HEPACAM2 Gene

Variant ID Type Subtype PubMed ID
esv2581618 CNV deletion 19546169
nsv528267 CNV loss 19592680

Variation tolerance for HEPACAM2 Gene

Residual Variation Intolerance Score: 52.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.93; 49.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HEPACAM2 Gene

Human Gene Mutation Database (HGMD)
HEPACAM2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HEPACAM2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HEPACAM2 Gene

Disorders for HEPACAM2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for HEPACAM2 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HEPACAM2

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with HEPACAM2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HEPACAM2 Gene

Publications for HEPACAM2 Gene

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 2 3 4
  2. Poly-ADP ribosylation of Miki by tankyrase-1 promotes centrosome maturation. (PMID: 22864114) Ozaki Y … Inaba T (Molecular cell 2012) 3 4
  3. Identification of a common microdeletion cluster in 7q21.3 subband among patients with myeloid leukemia and myelodysplastic syndrome. (PMID: 19358830) Asou H … Inaba T (Biochemical and biophysical research communications 2009) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

ExternalLinks

View latest publications for HEPACAM2 gene in Mastermind

Products for HEPACAM2 Gene

Sources for HEPACAM2 Gene