HEPACAM2 - HEPACAM family member 2 Gene
Also Known as MIKI
Species: Homo sapiens
About HEPACAM2
This gene has 5 transcripts (splice variants), 196 orthologues and 24 paralogues. Biased expression in colon (RPKM 38.5), small intestine (RPKM 21.6) and 3 other tissues.
Summary
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 Products (5)
| mRNA | Protein | Name |
|---|---|---|
| NM_001039372.4 | NP_001034461.1 | HEPACAM family member 2 isoform 1 precursor |
| NM_001288804.3 | NP_001275733.1 | HEPACAM family member 2 isoform 3 |
| NM_001288810.3 | NP_001275739.1 | HEPACAM family member 2 isoform 4 precursor |
| NM_001346642.2 | NP_001333571.1 | HEPACAM family member 2 isoform 5 |
| NM_198151.4 | NP_937794.1 | HEPACAM family member 2 isoform 2 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
22864114 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in centrosome cycle |
IMP
IMP: Inferred from mutant phenotype
|
22864114 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in Golgi apparatus |
IDA
IDA: Inferred from direct assay
|
22864114 | GOA |
| located in centrosome |
IDA
IDA: Inferred from direct assay
|
22864114 | GOA |
| located in midbody |
IDA
IDA: Inferred from direct assay
|
22864114 | GOA |
| located in spindle |
IDA
IDA: Inferred from direct assay
|
22864114 | GOA |
HEPACAM2 Protein Structure
V-set: Immunoglobulin V-set domain (33 - 142)
I-set: Immunoglobulin I-set domain (150 - 232)
Ig_2: Immunoglobulin domain (259 - 325)
- 0
- 100
- 200
- 300
- 400
- 462 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
HEPACAM family member 2 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Myelodysplastic Syndrome |
|
|
| Tumoral Calcinosis, Normophosphatemic, Familial |
|
|
| Dystonia |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | HEPACAM2 | VGNC | VGNC:29811 |
| Canis familiaris | HEPACAM2 | VGNC | VGNC:41658 |
| Felis catus | HEPACAM2 | VGNC | VGNC:62797 |
| Mus musculus | HEPACAM2 | MGD | MGI:2141520 |
| Rattus norvegicus | HEPACAM2 | RGD | RGD:1305697 |
| Macaca mulatta | HEPACAM2 | VGNC | VGNC:73247 |
| Others | HEPACAM2 | NCBI |