2. Gene
  3. PALM2AKAP2 - PALM2 and AKAP2 fusion Gene

PALM2AKAP2 - PALM2 and AKAP2 fusion Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品

中文名称：PALM2 和 AKAP2 融合

种属: Homo sapiens

同用名: AKAP2; MISP2; PALM2; PRKA2; AKAP-2; AKAPKL; AKAP-KL; PALM2-AKAP2

基因 ID: 445815 | 基因类型: protein coding

关于 PALM2AKAP2

Cytogenetic location: 9q31.3 Genomic coordinates (GRCh38): 9:109,640,787-110,172,512 (from NCBI)

This gene has 17 transcripts (splice variants), 107 orthologues and 3 paralogues. Broad expression in fat (RPKM 49.5), lung (RPKM 48.4) and 24 other tissues.

功能概要

该基因属于 PMID:22855693 中定义的副林明下游基因 (PDG) 家族。 Paralemmin 下游基因可能与 paralemmin 基因连续进化，并与人类和其他几个分类群中的其他 paralemmin paralogs 相关联。该基因编码三种不同的蛋白质亚型，即 PALM2 亚型、AKAP2 亚型和 PALM2-AKAP2 亚型。 PALM2-AKAP2 亚型的生物学意义尚不清楚。早些时候，PALM2 和 AKAP2 被注释为单独的基因，而 PALM2-AKAP2 被注释为通读基因。[RefSeq 提供，2019 年 5 月]

This gene belongs to the paralemmin downstream gene (PDG) family defined in PMID:22855693. Paralemmin downstream genes may have evolved contiguously with the paralemmin genes and are associated with other paralemmin paralogs in humans and several other taxa. The gene encodes three distinct protein isoforms, the PALM2 isoform, the AKAP2 isoform and the PALM2-AKAP2 isoform. The biological significance of the PALM2-AKAP2 isoforms is yet unknown. Earlier, PALM2 and AKAP2 were annotated as separate genes and PALM2-AKAP2 was annotated as a readthrough gene. [provided by RefSeq, May 2019]

PALM2AKAP2 基因产物(7)

mRNA Protein Name
NM_001004065.4 NP_001004065.2 A-kinase anchor protein 2 isoform 5 (AKAP2)
NM_001037293.3 NP_001032370.1 A-kinase anchor protein 2 isoform 2 (PALM2)
NM_001136562.3 NP_001130034.1 A-kinase anchor protein 2 isoform 7 (AKAP2)
NM_001198656.1 NP_001185585.1 A-kinase anchor protein 2 isoform 6 (AKAP2)
NM_007203.5 NP_009134.1 PALM2-AKAP2 protein isoform 3 (PALM2-AKAP2)
NM_053016.6 NP_443749.5 A-kinase anchor protein 2 isoform 1 (PALM2)
NM_147150.3 NP_671492.1 PALM2-AKAP2 protein isoform 4 (PALM2-AKAP2)

PALM2AKAP2 蛋白结构

Paralemmin

Paralemmin: Paralemmin (67 - 110)

RII_binding_1

RII_binding_1: RII binding domain (797 - 813)

AKAP2_C

AKAP2_C: A-kinase anchor protein 2 C-terminus (876 - 1095)

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  • 1103 a.a.
蛋白主名 其他名称

A-kinase anchor protein 2

PALM2-AKAP2 protein

A kinase (PRKA) anchor protein 2

关联疾病

疾病名称 别名
Kallmann Syndrome

Hypogonadism With Anosmia

Kallman'S Syndrome

Anosmic Hypogonadism

Anosmic Idiopathic Hypogonadotropic Hypogonadism

Hypogonadotropic Hypogonadism And Anosmia

Hypogonadotropic Hypogonadism-Anosmia Syndrome

Olfacto-Genital Pathological Sequence

Familial Hypogonadism With Anosmia

Kallman Syndrome

Dysplasia Olfactogenitalis Of De Morsier

Kallmann'S Syndrome

Congenital Hypogonadotropic Hypogonadism With Anosmia
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

相关产品

Clinical Phase
生物活性分子 (2)
目录号 产品名 作用方式
纯度 Phase
HY-P10031A SAR441255 TFA Agonist 99.65% Phase 1
HY-P10031 SAR441255 Agonist / Phase 1
Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS10006 PALM2AKAP2 Human Pre-designed siRNA Set A / 否
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