C12orf57 - chromosome 12 open reading frame 57 Gene

中文名称：12 号染色体开放阅读框 57

种属: Homo sapiens

同用名: C10; GRCC10

基因 ID: 113246 | 基因类型: protein coding

关于 C12orf57

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:6,943,433-6,946,003 (from NCBI)

This gene has 7 transcripts (splice variants), 187 orthologues and is associated with 3 phenotypes. Ubiquitous expression in ovary (RPKM 98.5), prostate (RPKM 39.0) and 25 other tissues.

功能概要

该基因在人体组织中普遍表达。它是人类胼胝体发育所必需的。该基因的突变与 Temtamy 综合征 (TEMTYS) 相关。已发现该基因的多个选择性剪接转录物变体。[RefSeq 提供，2014 年 9 月]

This gene is ubiquitously expressed in human tissues. It is required for development of the human corpus callosum. Mutations in this gene are associated with Temtamy syndrome (TEMTYS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]

C12orf57 基因产物(5)

mRNA	Protein	Name
NM_001301834.1	NP_001288763.1	protein C10 isoform 1
NM_001301836.2	NP_001288765.1	protein C10 isoform 2
NM_001301837.2	NP_001288766.1	protein C10 isoform 3
NM_001301838.2	NP_001288767.1	protein C10 isoform 4
NM_138425.4	NP_612434.1	protein C10 isoform 1

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	32296183	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in camera-type eye morphogenesis	IMP IMP: 通过突变表型推断	23453665	GOA
involved in cognition	IMP IMP: 通过突变表型推断	23633300	GOA
involved in corpus callosum morphogenesis	IMP IMP: 通过突变表型推断	23453665	GOA
involved in post-embryonic development	IMP IMP: 通过突变表型推断	23453665	GOA
involved in psychomotor behavior	IMP IMP: 通过突变表型推断	23633300	GOA
involved in regulation of skeletal muscle contraction	IMP IMP: 通过突变表型推断	23453665	GOA
involved in third ventricle development	IMP IMP: 通过突变表型推断	23453666	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	23453666	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

C12orf57 蛋白结构

P_C10

0
100
126 a.a.

蛋白主名

其他名称

protein C10

gene rich cluster C10

C12orf57 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	C12orf57	Q99622	INSL3	Homo sapiens	P51460	Y2H Array	32296183
种属内	C12orf57	Q99622	INSL3	Homo sapiens	P51460	Y2H Prey Pooling	32296183

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

Temtamy Syndrome

TEMTYS	Craniofacial Dysmorphism With Ocular Coloboma Absent Corpus Callosum And Aortic Dilatation
Craniofacial Dysmorphism-Coloboma-Corpus Callosum Agenesis Syndrome	Dysmorphism, Corpus Callosum Agenesis And Colobomas
Temtamy-Shalash Syndrome	Mental Retardation With Or Without Craniofacial Dysmorphism, Ocular Coloboma, Or Abnormal Corpus Callosum

Aicardi-Goutieres Syndrome 9

AGS9

Vesicoureteral Reflux

Vesico-Ureteral Reflux

Hydronephrosis

Stricture Of Ureteropelvic Junction With Hydronephrosis

Hydronephrosis With Ureteral Stricture, Not Elsewhere Classified

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder	ADHD
Attention Deficit Disorder	Attention Deficit-Hyperactivity Disorder, Susceptibility To
Attention Deficit Disorder With Hyperactivity	Hyperkinetic Disorder
Hyperactivity Of Childhood	Attention-Deficit/Hyperactivity Disorder
Add	Addh
Attention Deficit	Attention Deficit Disorder Of Childhood With Hyperactivity
Attention Deficit Disorder With Hyperactivity Syndrome	Hyperkinetic Syndrome
Attention-Deficit Hyperactivity Disorder	Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type
Disturbance Of Activity And Attention	Disorder Of Activity And Attention
Adhd - [Attention Deficit Hyperactivity Disorder]	Hyperkinetic Disorders
Disorder Of Activity And Attention With Hyperkinesia	Attention Deficit Syndrome With Hyperactivity

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

Colobomatous Microphthalmia

Anophthalmia-Microphthalmia Syndrome	Mac
Microphthalmia With Colobomatous Cyst	Microphthalmia-Anophthalmia-Coloboma Syndrome
Microphthalmia-Anophthalmia-Coloboma	Microphthalmia And Mental Deficiency

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-RS01698	C12orf57 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	C12orf57	VGNC	VGNC:55856
Canis familiaris	C12orf57	VGNC	VGNC:49231
Macaca mulatta	C12orf57	VGNC	VGNC:70437
Mus musculus	C12orf57	MGD	MGI:1315201
Rattus norvegicus	C12orf57	RGD	RGD:2318975
Felis catus	C12orf57	VGNC	VGNC:60420

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

C12orf57 - chromosome 12 open reading frame 57 Gene

关于 C12orf57

功能概要

C12orf57 基因产物(5)

C12orf57 蛋白结构

C12orf57 蛋白互作信息

关联疾病

直系同源

热门区域

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C12orf57 - chromosome 12 open reading frame 57 Gene

关于 C12orf57

功能概要

C12orf57 基因产物(5)

C12orf57 蛋白结构

C12orf57 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z