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  2. HEPACAM2 - HEPACAM family member 2 Gene

HEPACAM2 - HEPACAM family member 2 Gene

中文名称:HEPACAM 家族成员 2

种属: Homo sapiens

同用名: MIKI

基因 ID: 253012 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种与在有丝分裂中起作用的免疫球蛋白超家族相关的蛋白质。该基因的敲低导致中期停滞、核形态异常和细胞凋亡。编码蛋白的聚 (ADP-核糖基化) 促进其易位至中心体,这可能会刺激中心体成熟。包括该基因在内的染色体缺失可能与人类患者的骨髓性白血病和骨髓增生异常综合征有关。[RefSeq 提供,2016 年 10 月]

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 基因产物(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

HEPACAM2 蛋白结构

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)

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  • 462 a.a.
蛋白主名 其他名称

HEPACAM family member 2

mitotic kinetics regulator

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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