COL4A6 - collagen type IV alpha 6 chain Gene

中文名称：IV 型胶原α6 链

种属: Homo sapiens

同用名: DFNX6; DELXq22.3; CXDELq22.3

基因 ID: 1288 | 基因类型: protein coding

关于 COL4A6

Cytogenetic location: Xq22.3 Genomic coordinates (GRCh38): X:108,155,614-108,439,458 (from NCBI)

This gene has 9 transcripts (splice variants), 147 orthologues, 37 paralogues and is associated with 3 phenotypes. Broad expression in endometrium (RPKM 9.0), gall bladder (RPKM 7.4) and 16 other tissues.

功能概要

该基因编码 IV 型胶原蛋白的六个亚基之一，IV 型胶原蛋白是基底膜的主要结构成分。与 IV 型胶原蛋白基因家族的其他成员一样，该基因与另一种 IV 型胶原蛋白基因 alpha 5 IV 型胶原蛋白以头对头的构象组织在一起，因此该基因对共享一个共同的启动子。延伸到 alpha 6 基因的 alpha 5 基因缺失会导致弥漫性平滑肌瘤病，伴随由 alpha 5 基因缺失引起的 X 连锁 Alport 综合征。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2013 年 12 月]

This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Like the Other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]

COL4A6 基因产物(5)

mRNA	Protein	Name
NM_001287758.2	NP_001274687.1	collagen alpha-6(IV) chain isoform 3 precursor
NM_001287759.2	NP_001274688.1	collagen alpha-6(IV) chain isoform 4 precursor
NM_001287760.2	NP_001274689.1	collagen alpha-6(IV) chain isoform 5 precursor
NM_001847.4	NP_001838.2	collagen alpha-6(IV) chain isoform A precursor
NM_033641.4	NP_378667.1	collagen alpha-6(IV) chain isoform B 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	32814053	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

COL4A6 蛋白结构

Collagen

0
300
600
900
1200
1500
1691 a.a.

蛋白主名

其他名称

collagen alpha-6(IV) chain

collagen IV, alpha-6 polypeptide

关联疾病

疾病名称

别名

Deafness, X-Linked 6

DFNX6	X-Linked Deafness 6
Deafness, X-Linked, 6	Deafness, X-Linked, Type 6

X-Linked Non-Syndromic Sensorineural Deafness Type Dfn

X-Linked Isolated Neurosensory Deafness Type Dfn	X-Linked Isolated Neurosensory Hearing Loss Type Dfn
X-Linked Isolated Sensorineural Deafness Type Dfn	X-Linked Isolated Sensorineural Hearing Loss Type Dfn
X-Linked Non-Syndromic Neurosensory Deafness Type Dfn	X-Linked Non-Syndromic Neurosensory Hearing Loss Type Dfn
X-Linked Non-Syndromic Sensorineural Hearing Loss Type Dfn

Leiomyomatosis

Alport Syndrome

Hereditary Nephritis	Alport Syndrome, X-Linked
Hemorrhagic Hereditary Nephritis	Congenital Hereditary Hematuria
Hemorrhagic Familial Nephritis	Familial Nephritis
Thin Basement Membrane Disease	Thin Basement Membrane Nephropathy
Hematuria-Nephropathy-Deafness Syndrome	Hematuric Hereditary Nephritis
Hereditary Familial Congenital Hemorrhagic Nephritis	Hereditary Hematuria Syndrome
Hereditary Interstitial Pyelonephritis	Alport Deafness-Nephropathy
Alport Hearing Loss-Nephropathy	Alports Syndrome
Nephritis, Hereditary

X-Linked Alport Syndrome

Nephropathy And Deafness, X-Linked

X-Linked Alport Syndrome-Diffuse Leiomyomatosis

Xq22.3 Microdeletion Syndrome

X-Linked Diffuse Leiomyomatosis-Alport Syndrome

Leiomyoma

Leiomyomatous Neoplasm	Leiomyomatous Tumor
Leiomyomas	Fibroid Tumor
Uterine Fibroids

Colon Leiomyoma

Colonic Leiomyoma

Autosomal Recessive Alport Syndrome

Alport Syndrome, Recessive Type	Alport Syndrome, Autosomal Recessive
Alport Syndrome Autosomal Recessive	Alport Syndrome Recessive Type
Nephropathy And Deafness

Deafness, X-Linked 4

DFNX4	Dfn6
Deafness, Nonsyndromic Sensorineural Progressive 6	X-Linked Deafness 4
Deafness, X-Linked 6, Progressive	Nonsyndromic Sensorineural Progressive Deafness 6
X-Linked Progressive Deafness 6	Deafness, X-Linked, 4
Deafness Nonsyndromic Sensorineural Progressive 6	Deafness X-Linked 6 Progressive
Deafness, X-Linked, Type 4

X-Linked Nonsyndromic Deafness

X-Linked Deafness

Deafness, X-Linked

Deafness, X-Linked 5, With Peripheral Neuropathy

Deafness, X-Linked 5	DFNX5
Aunx1	Auditory Neuropathy, X-Linked, 1, With Peripheral Sensory Neuropathy
X-Linked Deafness 5	X-Linked Auditory Neuropathy With Peripheral Sensory Neuropathy Type 1
X-Linked Hsan With Deafness	X-Linked Auditory Neuropathy 1 With Peripheral Sensory Neuropathy
X-Linked Hereditary Sensory And Autonomic Neuropathy With Deafness	X-Linked Hsan With Hearing Loss
X-Linked Hereditary Sensory And Autonomic Neuropathy With Hearing Loss	Deafness, X-Linked, 5, With Peripheral Neuropathy
Deafness, X-Linked, Type 5

Deafness, X-Linked 2

Progressive Deafness With Stapes Fixation	DFNX2
Dfn3	Nance Deafness
Perilymphatic Gusher-Deafness Syndrome	Stapedo-Vestibular Ankylosis
Sensorineural Deafness, Profound, With Or Without A Conductive Component, Associated With A Unique Developmental Abnormality Of The Ear	X-Linked Deafness 2
X-Linked Mixed Conductive And Neurosensory Deafness	X-Linked Mixed Conductive And Sensorineural Deafness
Deafness 3 Conductive With Stapes Fixation	Deafness Conductive With Stapes Fixation
Deafness Mixed With Perilymphatic Gusher	Thies-Reis Syndrome
Deafness, Conductive, With Stapes Fixation	Deafness 3, Conductive, With Stapes Fixation
Deafness, Mixed, With Perilymphatic Gusher	Conductive Deafness 3 With Stapes Fixation
Conductive Deafness With Stapes Fixation	Mixed Deafness With Perilymphatic Gusher
X-Linked Deafness Type 2	X-Linked Mixed Conductive And Neurosensory Hearing Loss
X-Linked Mixed Conductive And Sensorineural Hearing Loss	X-Linked Sensorineural Deafness
X-Linked Stapes Gusher Syndrome	Deafness Mixed With Perilymphatic Gusher, X-Linked
Dfn 3 Nonsyndromic Hearing Loss And Deafness	Gusher Syndrome
Thies Reis Syndrome	Progressive Hearing Loss With Stapes Fixation
Deafness, X-Linked, 2	Deafness Mixed With Perilymph Gusher X-Linked
Deafness, X-Linked, Type 2	Progressive Hearing Loss Stapes Fixation

Nail Disorder, Nonsyndromic Congenital, 8

Nonsyndromic Congenital Nail Disorder 8	Toenail Dystrophy, Isolated
NDNC8	Isolated Toenail Dystrophy
Nail Disorder, Non-Syndromic Congenital, 8	Isolated Toenail Dystrophy Without Skin Fragility
Nail Disorder, Nonsyndromic Congenital, Type 8

Autosomal Dominant Alport Syndrome

Alport Syndrome, Autosomal Dominant	Alport Syndrome Dominant Type
Renal Failure And Sensorineural Hearing Loss	Alport Syndrome, Dominant Type

Deafness, X-Linked 3

DFNX3	Dfn4
X-Linked Deafness 3	Deafness, X-Linked 4, Congenital Sensorineural
Congenital Sensorineural X-Linked Deafness 4

Intravenous Leiomyomatosis

Leiomyomatosis

Brain Small Vessel Disease

Deafness, X-Linked 7

X-Linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome	DFNX7
X-Linked Deafness 7	Deafness, X-Linked, 7

Leiomyoma Cutis

Cutaneous Leiomyoma

Leiomyoma Of The Skin

Dermis Tumor

Dermis Tumour	Neoplasm Of Dermis
Tumor Of Dermis	Tumour Of Dermis

Brain Small Vessel Disease 1

Col4a1-Related Brain Small Vessel Disease With Hemorrhage	Col4a1-Related Familial Vascular Leukoencephalopathy
Col4a1-Related Retinal Arteriolar Tortuosity-Infantile Hemiparesis-Autosomal Dominant Leukoencephalopathy Syndrome	Autosomal Dominant Retinal Arteriolar Tortuosity, Infantile Hemiparesis, And Leukencephalopathy
Brain Small Vessel Disease With Axenfeld-Riegar Anomaly	Brain Small Vessel Disease With Hemorrhage
Brain Small Vessel Disease With Or Without Ocular Anomalies	Bsvd1
Infantile Hemiparesis	Leukoencephalopathy With Axenfeld-Riegar Anomaly

Hematuria, Benign Familial

Benign Familial Hematuria	BFH
Thin Membrane Nephropathy	Tmn
Thin Basement Membrane Nephropathy	Thin-Basement-Membrane Nephropathy
Hematuria, Familial Benign	Hematuria Benign Familial
Hematuria, Benign, Familial	Thin Basement Membrane Disease

Porencephaly

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Uterine Benign Neoplasm

Stickler Syndrome

Arthroophthalmopathy	Hereditary Arthro-Ophthalmo-Dystrophy
Hereditary Arthro-Ophthalmopathy	Stickler Dysplasia
Hereditary Progressive Arthroophthalmopathy	Stickler Syndrome, Type 1

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-RS02988	COL4A6 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	COL4A6	VGNC	VGNC:27567
Macaca mulatta	COL4A6	VGNC	VGNC:71300
Felis catus	COL4A6	VGNC	VGNC:97387
Rattus norvegicus	COL4A6	RGD	RGD:1589724
Mus musculus	COL4A6	MGD	MGI:2152695
Canis familiaris	COL4A6	VGNC	VGNC:39477

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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）

COL4A6 - collagen type IV alpha 6 chain Gene

关于 COL4A6

功能概要

COL4A6 基因产物(5)

COL4A6 蛋白结构

关联疾病

直系同源

热门区域

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COL4A6 - collagen type IV alpha 6 chain Gene

关于 COL4A6

功能概要

COL4A6 基因产物(5)

COL4A6 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