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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]
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.
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 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 22864114 |
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 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007049 | cell cycle | IEA | -- |
GO:0007098 | centrosome cycle | IMP | 22864114 |
GO:0051301 | cell division | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||
SP2: | - | ||||||||||||||||||||
SP3: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HEPACAM2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | HEPACAM2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | HEPACAM2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Hepacam2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Hepacam2 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | HEPACAM2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | HEPACAM2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | HEPACAM2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hepacam2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC558612 30 |
|
||
hepacam2 31 |
|
OneToOne |
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 |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2581618 | CNV | deletion | 19546169 |
nsv528267 | CNV | loss | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
retinitis pigmentosa 32 |
|
|
myelodysplastic syndrome |
|
|
tumoral calcinosis, normophosphatemic, familial |
|
|
dystonia |
|
|