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  2. KAT6B - lysine acetyltransferase 6B Gene

KAT6B - lysine acetyltransferase 6B Gene

中文名称:赖氨酸乙酰转移酶 6B

种属: Homo sapiens

同用名: qkf; MORF; MOZ2; GTPTS; MYST4; ZC2HC6B; querkopf

基因 ID: 23522 | 基因类型: protein coding

关于 KAT6B

Cytogenetic location: 10q22.2 Genomic coordinates (GRCh38): 10:74,824,936-75,032,624 (from NCBI)

This gene has 41 transcripts (splice variants), 1 gene allele, 222 orthologues, 9 paralogues and is associated with 97 phenotypes. Ubiquitous expression in ovary (RPKM 9.9), testis (RPKM 7.9) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种组蛋白乙酰转移酶,是 MOZ/MORF 蛋白质复合物的组成部分。除了其乙酰转移酶活性外,编码的蛋白质在其 N 末端具有转录激活活性,在其 C 末端具有转录抑制活性。这种蛋白质是 RUNX2 依赖性转录激活所必需的,并且可能参与大脑发育。在生殖-髌骨综合征患者中发现了突变。该基因和 CREBBP 基因的易位导致急性髓性白血病。已发现该基因的三个转录变体编码不同的亚型。[RefSeq 提供,2012 年 3 月]

The protein encoded by this gene is a Histone Acetyltransferase and component of the MOZ/MORF protein complex. In addition to its acetyltransferase activity, the encoded protein has transcriptional activation activity in its N-terminal end and transcriptional repression activity in its C-terminal end. This protein is necessary for RUNX2-dependent transcriptional activation and could be involved in brain development. Mutations have been found in patients with genitopatellar syndrome. A translocation of this gene and the CREBBP gene results in acute myeloid leukemias. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]

KAT6B 基因产物(16)

mRNA Protein Name
NM_001256468.2 NP_001243397.1 histone acetyltransferase KAT6B isoform 2
NM_001256469.2 NP_001243398.1 histone acetyltransferase KAT6B isoform 3
NM_001370132.1 NP_001357061.1 histone acetyltransferase KAT6B isoform 4
NM_001370133.1 NP_001357062.1 histone acetyltransferase KAT6B isoform 5
NM_001370134.1 NP_001357063.1 histone acetyltransferase KAT6B isoform 6
NM_001370135.1 NP_001357064.1 histone acetyltransferase KAT6B isoform 7
NM_001370136.1 NP_001357065.1 histone acetyltransferase KAT6B isoform 1
NM_001370137.1 NP_001357066.1 histone acetyltransferase KAT6B isoform 1
NM_001370138.1 NP_001357067.1 histone acetyltransferase KAT6B isoform 2
NM_001370139.1 NP_001357068.1 histone acetyltransferase KAT6B isoform 3
NM_001370140.1 NP_001357069.1 histone acetyltransferase KAT6B isoform 3
NM_001370141.1 NP_001357070.1 histone acetyltransferase KAT6B isoform 3
NM_001370142.1 NP_001357071.1 histone acetyltransferase KAT6B isoform 3
NM_001370143.1 NP_001357072.1 histone acetyltransferase KAT6B isoform 8
NM_001370144.1 NP_001357073.1 histone acetyltransferase KAT6B isoform 8
NM_012330.4 NP_036462.2 histone acetyltransferase KAT6B isoform 1

KAT6B 蛋白结构

Linker_histone

Linker_histone: linker histone H1 and H5 family (110 - 167)

PHD

PHD: PHD-finger (272 - 320)

MOZ_SAS

MOZ_SAS: MOZ/SAS family (773 - 957)

  • 0
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  • 1600
  • 2073 a.a.
蛋白主名 其他名称

histone acetyltransferase KAT6B

K(lysine) acetyltransferase 6B

关联疾病

疾病名称 别名
Genitopatellar Syndrome

GTPTS

Absent Patellae, Scrotal Hypoplasia, Renal Anomalies, Facial Dysmorphism, And Mental Retardation

Absent Patellae-Scrotal Hypoplasia-Renal Anomalies-Facial Dysmorphism-Intellectual Disability Syndrome

Gps

Ohdo Syndrome, Sbbys Variant

Say-Barber-Biesecker-Young-Simpson Syndrome

SBBYSS

Young-Simpson Syndrome

Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type

Yss

Sbbys Variant Of Ohdo Syndrome

Blepharophimosis - Intellectual Disability Syndrome, Sbbys Type

Young Simpson Syndrome

Sbbyss Syndrome

Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

Blepharophimosis And Mental Retardation Syndrome, Say-Barber/Biesecker/Young-Simpson Type

Blepharophimosis-Intellectual Deficit Syndrome, Say-Barber/Biesecker/Young-Simpson Type

Bmrs Sbbys

Ohdo Syndrome, Say-Barber-Biesecker Variant

Say-Barber-Biesecker-Young-Simpson Variant Of Ohdo Syndrome

Hypothyroidism-Dysmorphism-Postaxial Polydactyly-Intellectual Disability Syndrome

Say-Barber-Biesecker Variant Of Ohdo Syndrome

Ohdo Syndrome

Young Simpson Syndrome

Ohdo Blepharophimosis Syndrome

Blepharophimosis Syndrome Ohdo Type

Blepharophimosis Intellectual Disability Syndromes

Bmrs

Blepharophimosis-Intellectual Disability Syndrome

Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, And Hypoplastic Teeth

Sbbys Syndrome

Say Barber Biesecker Young-Simpson Syndrome

Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type

Bmrs, Ohdo Type

Blepharophimosis Syndrome, Ohdo Type

Ohdo-Madokoro-Sonoda Syndrome

Blepharophimosis - Intellectual Disability Syndrome, Ohdo Type

Blepharophimosis - Intellectual Disability Syndrome

Kat6b-Related Multiple Congenital Anomalies Syndrome

Kat6b-Related Disorder

Kat6b-Related Disorders

Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant

PADMAL

Dementia, Hereditary Multi-Infarct, Swedish Type

Pontine Autosomal Dominant Microangiopathy With Leukoencephalopathy

Brain Small Vessel Disease 1 With Or Without Ocular Anomalies

BSVD1

Gould Syndrome 1

Hemiplegia, Infantile, With Porencephaly

Brain Small Vessel Disease With Hemorrhage

Retinal Arteriolar Tortuosity, Infantile Hemiparesis, And Leukoencephalopathy, Autosomal Dominant

Brain Small Vessel Disease With Axenfeld-Rieger Anomaly

Leukoencephalopathy With Axenfeld-Rieger Anomaly

Porencephaly, Type 1, Formerly

T1p, Formerly

Porencephaly, Type 1, Autosomal Dominant, Formerly

Adt1p, Formerly

Porencephaly 1, Formerly

Poren1, Formerly

Brain Small Vessel Disease With Or Without Ocular Anomalies

Adt1p

Hemiplegia Infantile With Porencephaly Type 1

Poren1

Porencephaly 1

Porencephaly Type 1

Porencephaly Type 1 Autosomal Dominant

T1p

Porencephaly, Familial

Retinal Arteries, Tortuosity Of

Retinal Arterial Tortuosity

Retinal Hemorrhage With Vascular Tortuosity

RATOR

Tortuosity Of Retinal Arteries

Retinal Arteriolar Tortuosity

Familial Isolated Retinal Arterial Tortuosity

Tortuosity, Arteries, Retinal

Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps

Autosomal Dominant Familial Hematuria-Retinal Arteriolar Tortuosity-Contractures Syndrome

HANAC

Hereditary Angiopathy With Nephropathy, Aneurysms, And Muscle Cramps Syndrome

Hanac Syndrome

Hereditary Angiopathy-Nephropathy-Aneurysms-Muscle Cramps Syndrome

Autosomal Dominant Familial Hematuria, Retinal Arteriolar Tortuosity, Contractures

Hereditary Angiopathy With Nephropathy, Aneurysm, And Muscle Cramps Syndrome

Hereditary Angiopathy With Nephropathy Aneurysms And Muscle Cramps

Epilepsy, Familial Temporal Lobe, 1

ETL1

Adpeaf

Adlte

Epilepsy, Partial, With Auditory Features

Autosomal Dominant Partial Epilepsy With Auditory Features

Epilepsy, Lateral Temporal Lobe, Autosomal Dominant

Familial Temporal Lobe Epilepsy 1

Partial Epilepsy With Auditory Features

Autosomal Dominant Lateral Temporal Lobe Epilepsy

Lateral Temporal Lobe Epilepsy Autosomal Dominant

Epilepsy, Temporal Lobe, Familial, Type 1

Kbg Syndrome

KBGS

Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies

Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies

Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies

Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome

Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome

Hemorrhage, Intracerebral

Intracerebral Hemorrhage

Hemorrhagic Stroke

ICH

Hemorrhage, Intracerebral, Susceptibility To

Stroke, Hemorrhagic

Stroke, Hemorrhagic, Susceptibility To

Brain Hemorrhage

Blepharophimosis
Monocytic Leukemia

Monocytic Leukaemia

Schilling'S Leukaemia

Schilling'S Leukemia

M5b Acute Differentiated Monocytic Leukemia

Telecanthus
Renal Hypoplasia
Clubfoot

Congenital Talipes Equinovarus

Congenital Clubfoot

Congenital Equinovarus

Equinovarus Deformity Of Foot

Club Foot

Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism

Undescended Testicle

Undescended Testis

Cryptorchism

Undescended Testicles

CRYPTO

Impaired Testicular Descent

Cryptosporidiosis

Retained Testis

Unilateral Cryptorchidism

Unilateral Undescended Testis

Nondescent Unilateral Testicle

Unilateral Cryptorchism

Ectopic Testis, Unilateral

Bilateral Cryptorchidism

Bilateral Cryptorchism

Bilateral Nondescent Testicle

Bilateral Undescended Testes

Bilateral Ectopic Testes

Epicanthus
Vesicoureteral Reflux

Vesico-Ureteral Reflux

Talipes Equinovarus

Congenital Equinovarus

Congenital Talipes Equinovarus

Equinovarus

Congenital Varus Clubfoot

Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly

CCF

Familial Clubfoot Due To 5q31 Microdeletion

Familial Clubfoot Due To Pitx1 Point Mutation

Hereditary Clubfoot Due To Pitx1 Point Mutation

Hereditary Clubfoot Due To 5q31 Microdeletion

Talipes Equinovarus

Tev

Clubfoot, Congenital, With/Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly

Hypertelorism

Eyes Wide Apart

Eyes Widely Set

Hypertelorism Of Orbit

Ocular Hypertelorism

Orbital Separation Excessive

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

Cornelia De Lange Syndrome 5

CDLS5

Cornelia De Lange Syndrome, Type 5

46,Xx Sex Reversal 3

SRXX3

Chromosome Xq26 Duplication Syndrome

46,Xx Sex Reversal, Sox3-Related

46xx Sex Reversal 3

46,Xx Male Sex Reversal Sox3-Related

Eyelid Disease

Eyelid Diseases

Eyelid Disorders

Arboleda-Tham Syndrome

Kat6a Syndrome

Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome

ARTHS

Mrd32

Mental Retardation, Autosomal Dominant 32, Formerly

Mrd32, Formerly

Autosomal Dominant Mental Retardation 32

Autosomal Dominant Non-Syndromic Intellectual Disability 32

Arboleda-Tham

Basilicata-Akhtar Syndrome

Mrxs36

MRXSBA

Mental Retardation, X-Linked, Syndromic, Basilicata-Akhtar Type

Mental Retardation, X-Linked, Syndromic 36

X-Linked Syndromic Mental Retardation 36

X-Linked Syndromic Mental Retardation Basilicata-Akhtar Type

Syndromic X-Linked Intellectual Disability Nascimento Type

Mental Retardation, X-Linked Syndromic, Nascimento-Type

X-Linked Intellectual Disability-Nail Dystrophy-Seizures Syndrome

Non-Syndromic X-Linked Intellectual Disability 93

Mrx93

X-Linked Mental Retardation With Macrocephaly

Chromosome 16p13.3 Deletion Syndrome, Proximal

Rubinstein-Taybi Syndrome

Broad Thumb-Hallux Syndrome

Chromosome 16p13.3 Deletion Syndrome

Rubinstein-Taybi Syndrome Due To 16p13.3 Microdeletion

Rubinstein Syndrome

Broad Thumbs-Halluces Syndrome

Rsts

Rubinstein-Taybi Deletion Syndrome

Rsts Deletion Syndrome

Proximal Chromosome 16p13.3 Deletion Syndrome

16p13.3 Deletion Syndrome

Broad Thumbs And Great Toes, Characteristic Facies, And Intellectual Disability

Rts

Hypogonadotropic Hypogonadism 2 With Or Without Anosmia

Kallmann Syndrome 2

Kal2

HH2

Hypogonadism, Hypogonadotropic, Type 2 With/Without Anosmia

Floating-Harbor Syndrome

FLHS

Fhs

Pelletier-Leisti Syndrome

Short Stature With Delayed Bone Age, Expressive Language Delay, A Triangular Face With A Prominent Nose And Deep-Set Eyes

Leisti-Hollander-Rimoin Syndrome

Methylmalonic Aciduria And Homocystinuria, Cblx Type

Mental Retardation, X-Linked 3

Methylmalonic Acidemia With Homocystinuria, Type Cblx

MAHCX

Intellectual Developmental Disorder, X-Linked 3

Xlid3

Mrx3

Methylmalonic Acidemia And Homocysteinemia Cblx Type

Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblx

Methylmalonic Aciduria With Homocystinuria, Type Cblx

Methylmalonic Acidemia And Homocysteinemia, Cblx Type

Methylmalonic Aciduria And Homocysteinemia, Cblx Type

Methylmalonic Aciduria And Homocysteinemia , Cblx Type

Mental Retardation, X-Linked, Type 3

Laryngomalacia

Congenital Laryngomalacia

Congenital Laryngeal Stridor

Laryngomalacia Congenital

Floppy Epiglottis

Hermaphroditism
Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Cardiofaciocutaneous Syndrome 1

Cardiofaciocutaneous Syndrome

Cfc Syndrome

Cardio-Facio-Cutaneous Syndrome

CFC1

Cfcs

Cardio-Facial-Cutaneous Syndrome

Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities And Growth Failure

Cardiofaciocutaneous Syndrome, Type 1

Scoliosis
Kabuki Syndrome 1

Kabuki Syndrome

Niikawa-Kuroki Syndrome

Kabuki Make-Up Syndrome

Kms

KABUK1

Kabuki Make Up Syndrome

Nks

Kabuki Makeup Syndrome

Kabuki Syndrome, Type 1

Ptosis

Blepharoptosis

Drooping Eyelid

Droopy Eyelid

Ptosis Of Eyelid

Paralysis Of Levator Palpebrae Superioris

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

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

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

直系同源

种属 基因名 来源 基因 ID
Felis catus KAT6B VGNC VGNC:63025
Macaca mulatta KAT6B VGNC VGNC:73846
Rattus norvegicus KAT6B RGD RGD:1566399
Bos taurus KAT6B VGNC VGNC:30402
Mus musculus KAT6B MGD MGI:1858746
Canis familiaris KAT6B VGNC VGNC:42213