MAB21L2 - mab-21 like 2 Gene

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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	25416956	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in eye development	IMP IMP: 通过突变表型推断	24906020	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasm	IDA IDA: 通过直接分析推断	25719200	GOA
located in nucleus	IDA IDA: 通过直接分析推断	25719200	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

MAB21L2 蛋白结构

Mab-21

0
100
200
300
359 a.a.

蛋白主名

其他名称

protein mab-21-like 2

MAB21L2 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	MAB21L2	Q9Y586	CCDC102B	Homo sapiens	Q68D86	Validated Y2H	25416956
种属内	MAB21L2	Q9Y586	CCDC102B	Homo sapiens	Q68D86	Y2H Array	25416956
种属内	MAB21L2	Q9Y586	KRT34	Homo sapiens	O76011	Y2H Prey Pooling	32296183
种属内	MAB21L2	Q9Y586	KRT34	Homo sapiens	O76011	Y2H Array	32296183
种属内	MAB21L2	Q9Y586	AP1S2	Homo sapiens	P56377	Y2H Array	32296183
种属内	MAB21L2	Q9Y586	AP1S2	Homo sapiens	P56377	Y2H Prey Pooling	32296183
种属内	MAB21L2	Q9Y586	TFIP11	Homo sapiens	Q9UBB9	Y2H Array	32296183
种属内	MAB21L2	Q9Y586	TFIP11	Homo sapiens	Q9UBB9	Y2H Prey Pooling	32296183
种属内	MAB21L2	Q9Y586	ABI1	Homo sapiens	Q8IZP0-5	Y2H Prey Pooling	32296183
种属内	MAB21L2	Q9Y586	ABI1	Homo sapiens	Q8IZP0-5	Y2H Array	32296183
种属内	MAB21L2	Q9Y586	MEOX2	Homo sapiens	Q6FHY5	Y2H Prey Pooling	32296183
种属内	MAB21L2	Q9Y586	MEOX2	Homo sapiens	Q6FHY5	Y2H Array	32296183
种属内	MAB21L2	Q9Y586	PNMA1	Homo sapiens	Q8ND90	Validated Y2H	25416956
种属内	MAB21L2	Q9Y586	PNMA1	Homo sapiens	Q8ND90	Y2H Prey Pooling	25416956
种属内	MAB21L2	Q9Y586	GOLGA6L9	Homo sapiens	A6NEM1	Y2H Array	32296183
种属内	MAB21L2	Q9Y586	GOLGA2	Homo sapiens	Q08379	Y2H Array	25416956
种属内	MAB21L2	Q9Y586	CEP70	Homo sapiens	Q8NHQ1	Y2H Prey Pooling	32296183
种属内	MAB21L2	Q9Y586	CEP70	Homo sapiens	Q8NHQ1	Y2H Array	32296183
种属内	MAB21L2	Q9Y586	KRT31	Homo sapiens	Q15323	Y2H Prey Pooling	32296183
种属内	MAB21L2	Q9Y586	KRT31	Homo sapiens	Q15323	Y2H Array	32296183
种属内	MAB21L2	Q9Y586	ARID5A	Homo sapiens	Q03989	Y2H Prey Pooling	32296183
种属内	MAB21L2	Q9Y586	ARID5A	Homo sapiens	Q03989	Y2H Array	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 MAB21L2 蛋白

目录号	产品名	蛋白编号	纯度
HY-P77074	MAB21L2 Protein, Human (His)	Q9Y586/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

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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