Aliases for HEPACAM2 Gene
External Ids for HEPACAM2 Gene
- HGNC: 27364
- Entrez Gene: 253012
- Ensembl: ENSG00000188175
- OMIM: 614133
- UniProtKB: A8MVW5
Previous GeneCards Identifiers for HEPACAM2 Gene
- GC07M092656
- GC07M092817
- GC07M087426
Summaries 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 Myelodysplastic Syndrome. An important paralog of this gene is HEPACAM.
UniProtKB/Swiss-Prot 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.
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HEPACAM2 Gene
Genomics for HEPACAM2 Gene
Regulatory Elements for HEPACAM2 Gene
Enhancers for HEPACAM2 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 |
|---|---|---|---|---|---|---|---|---|
| GH07G093165 | 1 | FANTOM5 ENCODE | 10.6 | +66.6 | 66627 | 1.2 | TBP MTA2 CEBPB CEBPG DPF2 TBX21 RELA ARID3A PRDM6 POLR2A | HEPACAM2 SAMD9 SAMD9L |
| GH07G093558 | 0.7 | Ensembl | 9.6 | -327.2 | -327205 | 1.4 | ATF1 NR2F1 MAFG ATF2 JUND CBX8 ZNF316 ATF3 ZNF692 IRF1 | MIR489 MIR653 HEPACAM2 CALCR LOC105375400 |
| GH07G093217 | 0.7 | FANTOM5 | 4.6 | +14.4 | 14357 | 0.2 | GATAD2A TFAP4 NFIA SAP130 ZBTB2 TAL1 NFRKB CEBPB JUNB ARID4B | HEPACAM2 SAMD9L |
| GH07G093231 | 1.1 | ENCODE | 0.7 | +0.2 | 226 | 2.0 | PKNOX1 FOXA2 CREB3L1 ARNT WRNIP1 ARID4B SIN3A ZNF2 YY1 ZNF766 | SAMD9L FAM133B LOC105375403 VPS50 HEPACAM2 |
| GH07G093228 | 0.8 | ENCODE | 0.7 | +3.9 | 3875 | 0.2 | CTCF FOXA2 CEBPG ZNF2 RAD21 FOXK2 SCRT2 ZNF143 SMC3 SCRT1 | SAMD9L VPS50 HEPACAM2 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HEPACAM2 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the HEPACAM2 gene promoter:
Regulatory Element Products
Genomic Location for HEPACAM2 Gene
- Chromosome:
- 7
- Start:
- 93,188,586 bp from pter
- End:
- 93,232,297 bp from pter
- Size:
- 43,712 bases
- Orientation:
- Minus strand
Genomic View for HEPACAM2 Gene
Genes around HEPACAM2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7q21.2 by Ensembl
- 7q21.2 by Entrez Gene
- 7q21.2 by HGNC
HEPACAM2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HEPACAM2 Gene
Proteins for HEPACAM2 Gene
-
Protein details for HEPACAM2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- A8MVW5-HECA2_HUMAN
- Recommended name:
- HEPACAM family member 2
- Protein Accession:
- A8MVW5
- B3KTT4
- B4DPJ1
- B9EG93
- E9PDV5
- Q6UXI0
Protein attributes for HEPACAM2 Gene
- Size:
- 462 amino acids
- Molecular mass:
- 51407 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for HEPACAM2 Gene
- N-glycosylated.
- Poly-ADP-ribosylated (PARsylated) by tankyrase TNKS during late G2 and prophase, leading to translocation to mitotic centrosomes.
- Glycosylation at posLast=8585, posLast=129129, posLast=165165, posLast=216216, isoforms=2, 3288, and posLast=320320
- Modification sites at PhosphoSitePlus
Other Protein References for HEPACAM2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for HEPACAM2
-
Abcam antibodies for HEPACAM2
- Invitrogen Antibodies for HEPACAM2
- GeneTex HEPACAM2 antibody for HEPACAM2
-
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Protein Products
-
OriGene Purified Proteins for HEPACAM2
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- Search GeneTex for Proteins for HEPACAM2
-
Abcam proteins for HEPACAM2
Assay Products
No data available for DME Specific Peptides for HEPACAM2 Gene
Domains & Families for HEPACAM2 Gene
Gene Families for HEPACAM2 Gene
Protein Domains for HEPACAM2 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for HEPACAM2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for HEPACAM2 Gene
Function for HEPACAM2 Gene
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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 22864114 |
Phenotypes for HEPACAM2 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for HEPACAM2
-
ViGene Biosciences lentiviral particle packaged cDNA for HEPACAM2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HEPACAM2 gene
- Search ViGene Biosciences for HEPACAM2
CRISPR Products
-
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-
Santa Cruz Biotechnology (SCBT) CRISPR for HEPACAM2
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miRNA Products
- Search ViGene Biosciences for HEPACAM2
Inhibitory RNA Products
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-
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Cell Line Products
-
Horizon Cell Lines for HEPACAM2
-
ViGene Biosciences adenoviral particle packaged cDNA for HEPACAM2 gene
-
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-
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Flow Cytometry Products
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}.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| golgi apparatus | 5 |
| plasma membrane | 3 |
| extracellular | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| cytosol | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005794 | Golgi apparatus | IEA,IDA | 22864114 |
| GO:0005813 | centrosome | IDA | 22864114 |
| GO:0005815 | microtubule organizing center | IEA | -- |
Pathways & Interactions for HEPACAM2 Gene
No Data Available
Interacting Proteins for HEPACAM2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007049 | cell cycle | IEA | -- |
| GO:0007067 | mitotic nuclear division | IEA | -- |
| GO:0007098 | centrosome cycle | IMP | 22864114 |
| GO:0051297 | centrosome organization | IMP | -- |
| GO:0051301 | cell division | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for HEPACAM2 Gene
Transcripts for HEPACAM2 Gene
mRNA/cDNA for HEPACAM2 Gene
- (7) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (47) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HEPACAM2 Gene
CRISPR Products
-
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-
Santa Cruz Biotechnology (SCBT) CRISPR for HEPACAM2
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miRNA Products
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Inhibitory RNA Products
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-
ViGene Biosciences ready-to-package AAV shRNAs for HEPACAM2 gene
Flow Cytometry Products
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||
| SP2: | - | ||||||||||||||||||||
| SP3: |
Expression for HEPACAM2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Pancreas (Endocrine System)
- Endocrine Progenitor Cells Dorsal Pancreatic Bud
- Bipotent Endocrine/Duct Progenitor Cells Dorsal Pancreatic Bud
- Endocrine Progenitor Cells Ventral Pancreatic Bud
- Bipotent Endocrine/Duct Progenitor Cells Ventral Pancreatic Bud
-
Epithelial Cells
- Endocrine Progenitor Cells Dorsal Pancreatic Bud
- Bipotent Endocrine/Duct Progenitor Cells Dorsal Pancreatic Bud
- Endocrine Progenitor Cells Ventral Pancreatic Bud
- Bipotent Endocrine/Duct Progenitor Cells Ventral Pancreatic Bud
-
Testis (Reproductive System)
- Secondary Spermatocyte Seminiferous Tubules
-
Gonad
- Secondary Spermatocyte Seminiferous Tubules
- Spleen (Hematopoietic System)
- Blood (Cardiovascular System)
- Neural Tube (Nervous System)
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).
NURSA nuclear receptor signaling pathways regulating expression of HEPACAM2 Gene:
HEPACAM2SOURCE GeneReport for Unigene cluster for HEPACAM2 Gene:
Hs.443169mRNA Expression by UniProt/SwissProt for HEPACAM2 Gene:
A8MVW5-HECA2_HUMAN
Tissue specificity:
Widely expressed.
Evidence on tissue expression from TISSUES for HEPACAM2 Gene
- Kidney(4.2)
Primer Products
-
OriGene qPCR primer pairs for HEPACAM2
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HEPACAM2 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | HEPACAM2 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | HEPACAM2 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Hepacam2 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hepacam2 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | HEPACAM2 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | HEPACAM2 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | HEPACAM2 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | hepacam2 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC558612 34 |
|
||
| hepacam2 35 |
|
OneToOne |
- Species where no ortholog for HEPACAM2 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)
- 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 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)
Paralogs for HEPACAM2 Gene
Variants for HEPACAM2 Gene
| SNP ID | Clin | Chr 07 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| VAR_042976 | A breast cancer sample | ||||
| rs193921119 | Uncertain significance | 93,219,492(-) | GAAAT(A/G)TGGCT | intron-variant, reference, missense | |
| rs1000022155 | -- | 93,222,801(+) | GGTAG(A/C)AGCTA | intron-variant | |
| rs1000176690 | -- | 93,195,105(+) | TTGTC(-/A)AAAGA | intron-variant | |
| rs1000206833 | -- | 93,197,128(+) | CTGTT(A/G)TATTA | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2581618 | CNV | deletion | 19546169 |
| nsv528267 | CNV | loss | 19592680 |
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)
Relevant External Links for HEPACAM2 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HEPACAM2 Gene
Disorders for HEPACAM2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myelodysplastic syndrome |
|
|
Search HEPACAM2 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for HEPACAM2
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- HEPACAM2
No data available for UniProtKB/Swiss-Prot and Genatlas for HEPACAM2 Gene
Publications for HEPACAM2 Gene
- The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 2 3 4 64
- Poly-ADP ribosylation of Miki by tankyrase-1 promotes centrosome maturation. (PMID: 22864114) Ozaki Y. … Inaba T. (Mol. Cell 2012) 3 4 64
- Identification of a common microdeletion cluster in 7q21.3 subband among patients with myeloid leukemia and myelodysplastic syndrome. (PMID: 19358830) Asou H. … Inaba T. (Biochem. Biophys. Res. Commun. 2009) 3 4 64
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
- The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
Products for HEPACAM2 Gene
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- Mammalian expression: PiggyBac
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- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HEPACAM2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
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- (128) Genetics Home Reference
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- (135) Gene Damage Index
- (136) ViGene Biosciences
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- (141) ENCODE
- (142) ProSci
- (143) Horizon
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- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer