FAT4 - FAT atypical cadherin 4 Gene

中文名称：FAT 非典型钙粘蛋白 4

种属: Homo sapiens

同用名: FATJ; FAT-J; CDHF14; CDHR11; HKLLS2; VMLDS2; NBLA00548

基因 ID: 79633 | 基因类型: protein coding

关于 FAT4

Cytogenetic location: 4q28.1 Genomic coordinates (GRCh38): 4:125,314,955-125,492,932 (from NCBI)

This gene has 5 transcripts (splice variants), 223 orthologues, 6 paralogues and is associated with 136 phenotypes. Ubiquitous expression in gall bladder (RPKM 2.8), ovary (RPKM 2.6) and 23 other tissues.

功能概要

由该基因编码的蛋白质是原钙粘蛋白家族的成员。该基因可能在调节平面细胞极性 (PCP) 中发挥作用。对小鼠的研究表明，PCP 信号传导的缺失可能会导致囊性肾病，并且该基因的突变与 Van Maldergem 综合征 2 相关。已注意到该基因的选择性剪接转录物变体。[RefSeq 提供，2014 年 3 月]

The protein encoded by this gene is a member of the protocadherin family. This gene may play a role in regulating planar cell polarity (PCP). Studies in mice suggest that loss of PCP signaling may cause cystic kidney disease, and mutations in this gene have been associated with Van Maldergem Syndrome 2. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Mar 2014]

FAT4 基因产物(3)

mRNA	Protein	Name
NM_001291285.3	NP_001278214.1	protocadherin Fat 4 isoform 2 precursor
NM_001291303.3	NP_001278232.1	protocadherin Fat 4 isoform 1 precursor
NM_024582.6	NP_078858.4	protocadherin Fat 4 isoform 3 precursor

基因本体论

分子功能

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	22153077	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

FAT4 蛋白结构

Cadherin

EGF_CA

Laminin_G_2

0
800
1600
2400
3200
4000
4981 a.a.

蛋白主名

其他名称

protocadherin Fat 4

FAT tumor suppressor homolog 4

关联疾病

疾病名称

别名

Van Maldergem Syndrome 2

VMLDS2

Hennekam Lymphangiectasia-Lymphedema Syndrome 2

HKLLS2

Van Maldergem Syndrome 1

Cerebrofacioarticular Syndrome	VMLDS1
Van Maldergem Syndrome	Cerebro-Facio-Articular Syndrome
Van Maldergem Wetzburger Verloes Syndrome

Hennekam Syndrome

Hennekam Lymphangiectasia Lymphedema Syndrome	Hennekam Lymphangiectasia-Lymphedema Syndrome
Lymphedema-Lymphangiectasia-Intellectual Disability Syndrome	Lymphedem-Lymphangiectasia-Intellectual Disability Syndrome
Intestinal Lymphagiectasia Lymphedema Intellectual Deficit Syndrome	Lymphangiectasies And Lymphedema Hennekam Type
Generalized Lymphatic Dysplasia	Intestinal Lymphagiectasia-Lymphedema-Mental Retardation Syndrome

Van Maldergem Syndrome

Van Maldergem Wetzburger Verloes Syndrome	Cerebro-Facio-Articular Syndrome
Cerebro-Facio-Articular Syndrome Of Van Maldergem	Cerebrofacioarticular Syndrome
Cerebro Facio Articular Syndrome	Van Maldergem-Wetzburger-Verloes Syndrome

Cakut

Renal Or Urinary Tract Malformation	Congenital Anomalies Of Kidney And Urinary Tract
Congenital Anomaly Of Kidney And Urinary Tract	Congenital Anomalies Of The Kidney And Urinary Tract
Kidney And Urinary Tract, Anomalies, Congenital	Renal Hypodysplasia, Nonsyndromic, 1

Renal Hypoplasia

Periventricular Nodular Heterotopia

Periventricular Heterotopia	Pvnh
Familial Nodular Heterotopia	Heterotopia, Periventricular
Periventricular Heterotopia, X-Linked

Cystic Kidney Disease

Renal Cyst	Simple Renal Cyst
Kidney Cysts	Kidney Diseases, Cystic
Renal Cysts	Kidney Cyst
Cystic Kidney	Congenital Cystic Kidney Disease
Cystic Kidney Diseases	Bosniak 1 Cyst

Liposarcoma Of Bone

Liposarcoma Of The Bone

Hypogonadotropic Hypogonadism 2 With Or Without Anosmia

Kallmann Syndrome 2	Kal2
HH2	Hypogonadism, Hypogonadotropic, Type 2 With/Without Anosmia

Spinocerebellar Ataxia 45

SCA45

Spinocerebellar Ataxia Type 45

Colorectal Cancer

Colon Cancer	Colorectal Carcinoma
Colon Carcinoma	Colorectal Cancer, Susceptibility To
Carcinoma Of Colon	CRC
Colorectal Cancer With Chromosomal Instability, Somatic	Colon Cancer, Somatic
Colon Cancer, Susceptibility To	Colonic Neoplasms
Colorectal Neoplasms	Colorectal Cancer, Somatic
Colon Cancer, Advanced, Somatic	Colonic Carcinoma
Colorectal Carcinomas	Colon Cancers
Colorectal Cancers	Cancer, Colorectal, Somatic
Cancer, Colon	Cancer, Colorectal, Susceptibility To
Colorectal Neoplasm	Colonic Neoplasm
Malignant Tumor Of Colon

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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-N12851	4-OHE	Inhibitor	≥95.0%	否
HY-RS04763	FAT4 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	FAT4	VGNC	VGNC:78492
Bos taurus	FAT4	VGNC	VGNC:28877
Macaca mulatta	FAT4	VGNC	VGNC:72552
Mus musculus	FAT4	MGD	MGI:3045256
Rattus norvegicus	FAT4	RGD	RGD:1564291
Canis familiaris	FAT4	VGNC	VGNC:40745

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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）

FAT4 - FAT atypical cadherin 4 Gene

关于 FAT4

功能概要

FAT4 基因产物(3)

FAT4 蛋白结构

关联疾病

直系同源

热门区域

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FAT4 - FAT atypical cadherin 4 Gene

关于 FAT4

功能概要

FAT4 基因产物(3)

FAT4 蛋白结构

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