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  2. HEPACAM2 - HEPACAM family member 2 Gene

HEPACAM2 - HEPACAM family member 2 Gene

Homo sapiens

Also known as MIKI

Gene ID: 253012 | Gene type: protein coding

About HEPACAM2

Cytogenetic location: 7q21.2 Genomic coordinates (GRCh38): 7:93,188,534-93,232,285 (from NCBI)

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
22864114 GOA
Biological Process GO Annotation Evidence Reference Source
involved in centrosome cycle IMP
IMP: Inferred from mutant phenotype
22864114 GOA
Cellular Component GO Annotation Evidence Reference 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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HEPACAM2 Protein Structure

V-set

V-set: Immunoglobulin V-set domain (33 - 142)

I-set

I-set: Immunoglobulin I-set domain (150 - 232)

Ig_2

Ig_2: Immunoglobulin domain (259 - 325)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 462 a.a.
Protein Preferred Names Protein Names

HEPACAM family member 2

mitotic kinetics regulator

Related Diseases

Diseases Alias
Myelodysplastic Syndrome

Myelodysplastic Syndromes

Myelodysplasia

MDS

Myelodysplastic Syndrome Included

Myelodysplastic Syndrome, Susceptibility To, Included

Myelodysplastic Syndrome, Somatic

Myelodysplastic Syndrome, Susceptibility To

Tumoral Calcinosis, Normophosphatemic, Familial

Normophosphatemic Familial Tumoral Calcinosis

NFTC

Tumoral Calcinosis, Familial, Normophosphatemic

Calcinosis, Tumoral, With Normophosphatemia

Familial Normophosphatemic Tumoral Calcinosis

Tumoral Calcinosis With Normophosphatemia

Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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