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  2. LUZP2 - leucine zipper protein 2 Gene

LUZP2 - leucine zipper protein 2 Gene

中文名称:亮氨酸拉链蛋白 2

种属: Homo sapiens

同用名: PRO6246; KFSP2566

基因 ID: 338645 | 基因类型: protein coding

关于 LUZP2

Cytogenetic location: 11p14.3 Genomic coordinates (GRCh38): 11:24,497,053-25,082,638 (from NCBI)

This gene has 8 transcripts (splice variants) and 198 orthologues. Biased expression in brain (RPKM 5.0), adrenal (RPKM 1.6) and 1 other tissue.

功能概要

该基因编码亮氨酸拉链蛋白。这种蛋白质在一些 Wilms 肿瘤-无虹膜-泌尿生殖系统异常-智力迟钝 (WAGR) 综合征患者中缺失。交替剪接导致多个转录本变体。[RefSeq 提供,2011 年 10 月]

This gene encodes a leucine zipper protein. This protein is deleted in some patients with Wilms tumor-Aniridia-Genitourinary anomalies-mental Retardation (WAGR) syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]

LUZP2 基因产物(3)

mRNA Protein Name
NM_001009909.4 NP_001009909.2 leucine zipper protein 2 isoform 1 precursor
NM_001252008.2 NP_001238937.1 leucine zipper protein 2 isoform 2
NM_001252010.2 NP_001238939.1 leucine zipper protein 2 isoform 3

LUZP2 蛋白结构

Leu_zip

Leu_zip: Leucine zipper (22 - 261)

  • 0
  • 100
  • 200
  • 300
  • 346 a.a.
蛋白主名 其他名称

leucine zipper protein 2

关联疾病

疾病名称 别名
Albinism, Oculocutaneous, Type Ii

OCA2

Oculocutaneous Albinism Type 2

Oculocutaneous Albinism Type Ii

Albinoidism

Tyrosinase-Positive Oculocutaneous Albinism

Brown Oculocutaneous Albinism

Oculocutaneous Albinism, Tyrosinase-Positive

Albinism Ii

Albinism, Brown Oculocutaneous

Oculocutaneous Albinism, Type Ii, Modifier Of

Oculocutaneous Albinism, Type Ii

Albinism, Oculocutaneous, Type Ii, Modifier Of

Albinism 2

Albinism, Oculocutaneous, Type 2

Oculocutaneous Albinism Tyrosinase Positive

Oculocutaneous Albinism, Tyrosinase Positive

Albinism, Oculocutaneous, 2

Boca

Oca-2

Oculocutaneous Albinism Tyrosinase-Positive

Aniridia 1

Aniridia

Congenital Aniridia

AN1

An

Cataract With Late-Onset Corneal Dystrophy

Aplasia Of Iris

Absent Iris

Irideremia

Aniridia Ii, Formerly

An2, Formerly

An2

Aniridia Type Ii

Aniridia, Type 1

An-1

Absence Of Iris

Agenesis Of Iris

Congenital Absence Of Iris

Hereditary Aniridia

Sporadic Aniridia

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 LUZP2 VGNC VGNC:42869
Rattus norvegicus LUZP2 RGD RGD:6496163
Felis catus LUZP2 VGNC VGNC:63331
Macaca mulatta LUZP2 VGNC VGNC:74336
Bos taurus LUZP2 VGNC VGNC:31085
Mus musculus LUZP2 MGD MGI:1889615