C12orf4 - chromosome 12 open reading frame 4 Gene

中文名称：12 号染色体开放阅读框 4

种属: Homo sapiens

同用名: MRT66

基因 ID: 57102 | 基因类型: protein coding

关于 C12orf4

Cytogenetic location: 12p13.32 Genomic coordinates (GRCh38): 12:4,487,735-4,538,469 (from NCBI)

This gene has 9 transcripts (splice variants), 210 orthologues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 4.7), thyroid (RPKM 4.4) and 25 other tissues.

功能概要

该基因从线虫到人类高度保守。在大鼠中，直系同源基因编码一种参与肥大细胞脱颗粒的细胞质蛋白。人类基因与常染色体隐性智力障碍有关。[RefSeq 提供，2016 年 9 月]

This gene is highly conserved from nematodes to humans. In rat, the orthologous gene encodes a cytoplasmic protein that is involved in mast cell degranulation. The human gene has been implicated in autosomal recessive intellectual disability. [provided by RefSeq, Sep 2016]

C12orf4 基因产物(7)

mRNA	Protein	Name
NM_001304811.2	NP_001291740.1	protein C12orf4 isoform a
NM_001346153.2	NP_001333082.1	protein C12orf4 isoform b
NM_001346155.2	NP_001333084.1	protein C12orf4 isoform b
NM_001346156.2	NP_001333085.1	protein C12orf4 isoform c
NM_001346157.2	NP_001333086.1	protein C12orf4 isoform d
NM_001352962.2	NP_001339891.1	protein C12orf4 isoform e
NM_020374.4	NP_065107.1	protein C12orf4 isoform a

C12orf4 蛋白结构

DUF2362

0
100
200
300
400
500
552 a.a.

蛋白主名

其他名称

protein C12orf4

C12orf4 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	FERRY3	Q9NQ89	LAMP2	Homo sapiens	P13473-2	Y2H Array	32814053
种属内	FERRY3	Q9NQ89	LAMP2	Homo sapiens	P13473-2	Validated Y2H	32814053
种属内	FERRY3	Q9NQ89	LAMP2	Homo sapiens	P13473-2	Y2H Pooling	32814053
种属内	FERRY3	Q9NQ89	SH3GLB1	Homo sapiens	Q9Y371	Validated Y2H	32814053
种属内	FERRY3	Q9NQ89	SH3GLB1	Homo sapiens	Q9Y371	Y2H Array	32814053
种属内	FERRY3	Q9NQ89	SH3GLB1	Homo sapiens	Q9Y371	Y2H Pooling	32814053
种属内	FERRY3	Q9NQ89	PPP1R21	Homo sapiens	Q6ZMI0	GMS	37267906
种属内	FERRY3	Q9NQ89	PPP1R21	Homo sapiens	Q6ZMI0	Anti Tag CoIP	33961781
种属内	FERRY3	Q9NQ89	PPP1R21	Homo sapiens	Q6ZMI0	Crosslink	37267906
种属内	FERRY3	Q9NQ89	PPP1R21	Homo sapiens	Q6ZMI0	Biophysical	37267906
种属内	FERRY3	Q9NQ89	PRPF40A	Homo sapiens	O75400-2	Validated Y2H	32814053
种属内	FERRY3	Q9NQ89	PRPF40A	Homo sapiens	O75400-2	Y2H Array	32814053
种属内	FERRY3	Q9NQ89	PRPF40A	Homo sapiens	O75400-2	Y2H Pooling	32814053
种属内	FERRY3	Q9NQ89	HMOX2	Homo sapiens	P30519	Y2H Array	32814053
种属内	FERRY3	Q9NQ89	HMOX2	Homo sapiens	P30519	Y2H Pooling	32814053
种属内	FERRY3	Q9NQ89	HMOX2	Homo sapiens	P30519	Validated Y2H	32814053
种属内	FERRY3	Q9NQ89	CASP6	Homo sapiens	P55212	Y2H Pooling	32814053
种属内	FERRY3	Q9NQ89	CASP6	Homo sapiens	P55212	Validated Y2H	32814053
种属内	FERRY3	Q9NQ89	CASP6	Homo sapiens	P55212	Y2H Array	32814053

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

Intellectual Developmental Disorder, Autosomal Recessive 66

Mental Retardation, Autosomal Recessive 66	MRT66
Autosomal Recessive Intellectual Developmental Disorder 66

Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid

Retinitis Pigmentosa 75

RP75	Retinitis Pigmentosa, Type 75

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

Hypotonia

Distal Muscular Dystrophy With Anterior Tibial Onset

Dmat

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-RS01697	C12orf4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	C12orf4	RGD	RGD:1311164
Felis catus	C12orf4	VGNC	VGNC:60416
Bos taurus	C12orf4	VGNC	VGNC:106665
Macaca mulatta	C12orf4	VGNC	VGNC:70296
Canis familiaris	C12orf4	VGNC	VGNC:49229
Mus musculus	C12orf4	MGD	MGI:107893
Others	C12orf4	NCBI

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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）

C12orf4 - chromosome 12 open reading frame 4 Gene

关于 C12orf4

功能概要

C12orf4 基因产物(7)

C12orf4 蛋白结构

C12orf4 蛋白互作信息

关联疾病

直系同源

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C12orf4 - chromosome 12 open reading frame 4 Gene

关于 C12orf4

功能概要

C12orf4 基因产物(7)

C12orf4 蛋白结构

C12orf4 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z