2. Gene
  3. MAB21L2 - mab-21 like 2 Gene

MAB21L2 - mab-21 like 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：mab-21 样 2

种属: Homo sapiens

同用名: MCOPS14; MCSKS14

基因 ID: 10586 | 基因类型: protein coding

关于 MAB21L2

Cytogenetic location: 4q31.3 Genomic coordinates (GRCh38): 4:150,582,151-150,584,693 (from NCBI)

This gene has 1 transcript (splice variant), 121 orthologues, 9 paralogues and is associated with 5 phenotypes.

功能概要

该基因类似于秀丽隐杆线虫 MAB-21 细胞命运决定基因，后者是转化生长因子-β 信号传导的下游靶标。人们认为该基因可能与神经发育有关。由该基因编码的蛋白质主要是核蛋白，尽管已观察到一些细胞质定位。[RefSeq 提供，2008 年 7 月]

This gene is similar to the C. elegans MAB-21 cell fate-determining gene, a downstream target of transforming growth factor-beta signaling. It is thought that this gene may be involved in neural development. The protein encoded by this gene is primarily nuclear, although some cytoplasmic localization has been observed. [provided by RefSeq, Jul 2008]

MAB21L2 基因产物(1)

mRNA Protein Name
NM_006439.5 NP_006430.1 protein mab-21-like 2

MAB21L2 蛋白结构

Mab-21

Mab-21: Mab-21 protein (62 - 346)

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

protein mab-21-like 2

重组 MAB21L2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P77074 MAB21L2 Protein, Human (His) NP_006430 (M1-L359) ≥95%

关联疾病

疾病名称 别名
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome

Colobomatous Microphthalmia-Rhizomelic Dysplasia Syndrome

MCSKS

Mcops14

Microphthalmia And/Or Coloboma With Or Without Rhizomelic Skeletal Dysplasia

Microphthalmia, Syndromic 14

Syndromic Microphthalmia 14

Microphthalmia-Coloboma-Rhizomelic Skeletal Dysplasia

Microphthalmia, Syndromic, 14

Microphthalmia And/Or Coloboma, With Or Without Rhizomelic Skeletal Dysplasia

Microphthalmia, Syndromic, Type 14
Autosomal Dominant Wolfram Syndrome
Microphthalmia

Microphthalmos

Isolated Anophthalmia-Microphthalmia Syndrome

Isolated Microphthalmia-Anophthalmia-Coloboma

Simple Microphthalmos

Clinical Anophthalmia

Isolated Anophthalmia - Microphthalmia

Isolated Pure Microphthalmia

Mac Spectrum

Microphthalmia-Anophthalmia-Coloboma Spectrum

Primitive Anophthalmia

Globe Of Eye Small

Small Eyeball

Hypoplasia Of Eye

Isolated Nanophthalmos

Rudimentary Eye

Dysplasia Of Eye
Baraitser-Winter Syndrome

Fryns-Aftimos Syndrome

Brws

Cerebro-Frontofacial Syndrome, Type 3

Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation

Iris Coloboma With Ptosis Hypertelorism And Intellectual Disability

Trigonocephaly Ptosis Coloboma

Trigonocephaly Ptosis Intellectual Disability

Cerebrofrontofacial Syndrome Type 3
Syndromic Microphthalmia

Microphthalmia, Syndromic
Coloboma Of Macula

Coloboma

Congenital Ocular Coloboma

Microphthalmia, Isolated, With Coloboma

Agenesis Of Macula

Hereditary Macular Coloboma

Ocular Coloboma

Coloboma Of Eye

Macular Coloboma

Uveoretinal Coloboma
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
Glaucoma 3, Primary Congenital, A

Buphthalmos

Glaucoma, Congenital

Congenital Glaucoma

Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset

GLC3A

Glc3

Buphthalmia

Primary Congenital Glaucoma

Glaucoma, Primary Open Angle, Juvenile-Onset

Simple Buphthalmos

Buphthalmus

Glaucoma, Primary Open Angle, Adult-Onset

Primary Congenital Glaucoma 3a

Primary Infantile Glaucoma Type 3a

Glaucoma 3a, Primary Congenital

Glaucoma, Congenital, Primary, Type 3a

Hydrophthalmos

Cystic Eyeball
Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly

Anterior Segment Mesenchymal Dysgenesis

Corneal Opacification And Other Ocular Anomalies

Sclerocornea With Other Ocular Anomalies

Asmd

Asod

Anterior Segment Ocular Dysgenesis

Foxe3-Related Ocular Disorder

Familial Ocular Anterior Segment Mesenchymal Dysgenesis

Dysgenesis, Anterior Segment

Irido-Corneal Dysgenesis

Axenfeld-Rieger Syndrome, Type 3
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

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-RS07939 MAB21L2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus MAB21L2 VGNC VGNC:68122
Canis familiaris MAB21L2 VGNC VGNC:42911
Rattus norvegicus MAB21L2 RGD RGD:1595520
Mus musculus MAB21L2 MGD MGI:1346022
Bos taurus MAB21L2 VGNC VGNC:31128
Macaca mulatta MAB21L2 VGNC VGNC:100243
Others MAB21L2 NCBI
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