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  2. NCAPD2 - non-SMC condensin I complex subunit D2 Gene

NCAPD2 - non-SMC condensin I complex subunit D2 Gene

中文名称:非 SMC 凝聚素 I 复合亚基 D2

种属: Homo sapiens

同用名: CNAP1; CAP-D2; MCPH21; hCAP-D2

基因 ID: 9918 | 基因类型: protein coding

关于 NCAPD2

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:6,494,102-6,531,955 (from NCBI)

This gene has 13 transcripts (splice variants), 197 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in lymph node (RPKM 20.3), bone marrow (RPKM 14.5) and 24 other tissues.

功能概要

启用组蛋白结合活动。参与有丝分裂染色体浓缩。位于浓缩染色体;胞质溶胶;和核质。凝缩蛋白复合物的一部分。与细胞质和核染色体共定位。与原发性常染色体隐性遗传性小头畸形有关。 [由基因组资源联盟提供,2022 年 4 月]

Enables histone binding activity. Involved in mitotic chromosome condensation. Located in condensed chromosome; cytosol; and nucleoplasm. Part of condensin complex. Colocalizes with cytoplasm and nuclear chromosome. Implicated in primary autosomal recessive microcephaly. [provided by Alliance of Genome Resources, Apr 2022]

NCAPD2 基因产物(1)

mRNA Protein Name
NM_014865.4 NP_055680.3 condensin complex subunit 1

NCAPD2 蛋白结构

Cnd1_N

Cnd1_N: non-SMC mitotic condensation complex subunit 1, N-term (76 - 240)

Cnd1

Cnd1: non-SMC mitotic condensation complex subunit 1 (1069 - 1233)

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  • 1401 a.a.
蛋白主名 其他名称

condensin complex subunit 1

XCAP-D2 homolog

NCAPD2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
NCAPD2 Q15021 NCAPH Homo sapiens Q15003 17268547
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Microcephaly 21, Primary, Autosomal Recessive

MCPH21

Spastic Monoplegia

Monoplegic Infantile Cerebral Palsy

Spastic Monoplegic Cerebral Palsy

Infantile Monoplegic Cerebral Palsy

Cerebral Palsy Spastic Monoplegic

Spastic Monoplegia Cerebral Palsy

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly

Microcephaly 19, Primary, Autosomal Recessive

MCPH19

Primary Autosomal Recessive Microcephaly 19

Microcephaly, Type 19, Primary, Autosomal Recessive

Osteogenesis Imperfecta, Type Ix

Osteogenesis Imperfecta Type 9

Osteogenesis Imperfecta Type Ix

OI9

Oi Type Ix

Osteogenesis Imperfecta Sillence Type Ii/Iii Without Abnormality Of Type I Collagen

Oi, Type Ix

Oi 9

Osteogenesis Imperfecta 9

Oi-Ix

Primary Microcephaly

True Microcephaly

Microcephaly, Primary

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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
Canis familiaris NCAPD2 VGNC VGNC:43639
Rattus norvegicus NCAPD2 RGD RGD:1562596
Macaca mulatta NCAPD2 VGNC VGNC:75015
Bos taurus NCAPD2 VGNC VGNC:31901
Mus musculus NCAPD2 MGD MGI:1915548
Felis catus NCAPD2 VGNC VGNC:82373