ANKS6 - ankyrin repeat and sterile alpha motif domain containing 6 Gene

中文名称：含锚蛋白重复序列和无菌 alpha 基序域 6

种属: Homo sapiens

同用名: PKDR1; SAMD6; NPHP16; ANKRD14

基因 ID: 203286 | 基因类型: protein coding

关于 ANKS6

Cytogenetic location: 9q22.33 Genomic coordinates (GRCh38): 9:98,732,009-98,796,555 (from NCBI)

This gene has 7 transcripts (splice variants), 199 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 4.5), kidney (RPKM 2.8) and 24 other tissues.

功能概要

该基因编码的蛋白质包含多个锚蛋白重复序列和一个 SAM 结构域。据认为，这种蛋白质可能定位于初级纤毛的近端区域，并可能在肾脏和心血管发育中发挥作用。该基因的突变已被证明会导致一种形式的肾病 (NPHP16) ，这是一种慢性肾小管间质性肾炎。[RefSeq 提供，2015 年 7 月]

This gene encodes a protein containing multiple ankyrin repeats and a SAM domain. It is thought that this protein may localize to the proximal region of the primary cilium, and may play a role in renal and cardiovascular development. Mutations in this gene have been shown to cause a form of nephronophthisis (NPHP16), a chronic tubulo-interstitial nephritis. [provided by RefSeq, Jul 2015]

ANKS6 基因产物(1)

mRNA	Protein	Name
NM_173551.5	NP_775822.3	ankyrin repeat and SAM domain-containing protein 6

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	24998259	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

ANKS6 蛋白结构

Ank_2

SAM_1

0
200
400
600
800
871 a.a.

蛋白主名

其他名称

ankyrin repeat and SAM domain-containing protein 6

SAM domain-containing protein 6

ANKS6 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
Intra	ANKS6	Q68DC2	AGTRAP	Homo sapiens	Q6RW13-2	Validated Y2H	32296183
Intra	ANKS6	Q68DC2	AGTRAP	Homo sapiens	Q6RW13-2	Y2H Array	32296183
Intra	ANKS6	Q68DC2	AGTRAP	Homo sapiens	Q6RW13-2	Y2H Prey Pooling	32296183
Intra	ANKS6	Q68DC2	PITPNC1	Homo sapiens	Q9UKF7-2	Validated Y2H	32296183
Intra	ANKS6	Q68DC2	MARCHF5	Homo sapiens	Q9NX47	Validated Y2H	32296183
Intra	ANKS6	Q68DC2	TMEM60	Homo sapiens	Q9H2L4	Validated Y2H	32296183
Intra	ANKS6	Q68DC2	BCL2L2	Homo sapiens	Q92843	Validated Y2H	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

Nephronophthisis 16

NPHP16

Nephronophthisis, Type 16

Infantile Nephronophthisis

Autosomal Recessive Infantile Nphp	Autosomal Recessive Infantile Nephronophthisis
Nephronophthisis 2

Juvenile Nephronophthisis

Nephronophthisis

Nephronophthisis, Familial Juvenile

Interstitial Nephritis

Nephritis, Interstitial	Renal Tubulo-Interstitial Disease
Nephritis Interstitial	Nephritis, Tubulointerstitial

Nephronophthisis

Medullary Cystic Disease	Medullary Cystic Kidney
Nph	Nphp
Kidney Disease, Cystic, Medullary

Nephronophthisis 9

NPHP9

Nephronophthisis, Type 9

Nephronophthisis 11

NPHP11

Nephronophthisis, Type 11

Situs Inversus

Situs Inversus Viscerum	Laterality Sequence
Complete Transposition	Siv

Nephrotic Syndrome, Type 21

NPHS21	Nephrotic Syndrome Type 21
Nephrotic Syndrome 21

Nephronophthisis 18

NPHP18

Nephronophthisis, Type 18

Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease

Autosomal Recessive Polycystic Kidney Disease	Arpkd
Polycystic Kidney Disease, Autosomal Recessive	Polycystic Kidney And Hepatic Disease 1
Pkhd1	PKD4
Polycystic Kidney Disease 4 With Or Without Hepatic Disease	Polycystic Kidney Disease, Infantile, Type I
Polycystic Kidney Disease, Infantile Type	Polycystic Kidney, Autosomal Recessive
Pkd3, Formerly	Polycystic Kidney Disease 4, With Or Without Hepatic Disease
Arpkd/Chf	Ar-Pkd
Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease	Infantile Polycystic Kidney Disease Type I
Pkd3	Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease
Polycystic Kidney Disease 3, Autosomal Dominant

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

Autosomal Dominant Polycystic Kidney Disease

Polycystic Kidney Disease, Adult Type	Adpkd
Polycystic Kidney Diseases	Polycystic Kidney, Autosomal Dominant
Congenital Biliary Ectasias	Polycystic Kidney And Hepatic Disease 1
Polycystic Kidney Disease, Autosomal Dominant	Kidney, Polycystic, Disease, Autosomal Dominant
Adult Polycystic Kidney Disease	Polycystic Kidney, Adult Type
Apckd - [Autosomal Polycystic Kidney Disease]

Polycystic Kidney Disease

Polycystic Kidney Diseases	Pkd
Polycystic Renal Disease	Kidney Disease, Polycystic
Polycystic Kidney, Autosomal Dominant

Visceral Heterotaxy

Situs Ambiguus	Heterotaxia
Heterotaxy Syndrome	Heterotaxy
Lateralization Defect	Situs Ambiguous
Left Isomerism	Htx
Ivemark Syndrome	Right Isomerism
Situs Ambiguus Viscerum	Incomplete Situs Inversus
Partial Situs Inversus	Heterotaxy, Visceral
Asplenia Syndrome	Bilateral Left-Sidedness
Polysplenia Syndrome	Moller Syndrome

Joubert Syndrome 1

Joubert Syndrome	Jbts
Cerebellooculorenal Syndrome 1	JBTS1
Joubert-Boltshauser Syndrome	Cerebelloparenchymal Disorder Iv
Cpd4	Cors1
Joubert Syndrome And Related Disorders	Jsrd
Familial Aplasia Of The Vermis	Joubert Syndrome Related Disorders
Js	Cerebellar Vermis Agenesis
Cerebelloparenchymal Disorder 4	Agenesis Of Cerebellar Vermis
Cerebello-Oculo-Renal Syndrome	Cors
Joubert-Bolthauser Syndrome	Cpd Iv
Classic Joubert Syndrome	Joubert Syndrome Type A
Pure Joubert Syndrome	Cerebello-Oculo-Renal Syndrome 1
Joubert Syndrome-1	Joubert Syndrome, Type 1
Joubert'S Syndrome

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome	Kartagener Syndrome
Dextrocardia Bronchiectasis And Sinusitis	Pcd
Ciliary Motility Disorders	Ciliary Motility Disorder
Immotile Ciliary Syndrome	Ciliary Dyskinesia Primary
Ics	Polynesian Bronchiectasis
Dextrocardia-Bronchiectasis-Sinusitis Syndrome	Immotile Cilia Syndrome, Kartagener Type
Primary Ciliary Dyskinesia And Situs Inversus	Primary Ciliary Dyskinesia, Kartagener Type
Siewert Syndrome	Dyskinesia, Ciliary, Primary

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 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-RS00737	ANKS6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	ANKS6	VGNC	VGNC:37920
Bos taurus	ANKS6	VGNC	VGNC:25947
Mus musculus	ANKS6	MGD	MGI:1922941
Felis catus	ANKS6	VGNC	VGNC:59823
Macaca mulatta	ANKS6	VGNC	VGNC:103239
Rattus norvegicus	ANKS6	RGD	RGD:3334

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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）

ANKS6 - ankyrin repeat and sterile alpha motif domain containing 6 Gene

关于 ANKS6

功能概要

ANKS6 基因产物(1)

ANKS6 蛋白结构

ANKS6 蛋白互作信息

关联疾病

直系同源

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ANKS6 - ankyrin repeat and sterile alpha motif domain containing 6 Gene

关于 ANKS6

功能概要

ANKS6 基因产物(1)

ANKS6 蛋白结构

ANKS6 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

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C

F

G

H

J

L

N

Q

S

T

X

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Z