NFIX - nuclear factor I X Gene

Homo sapiens

Also known as CTF; NF1A; MALNS; NF1-X; MRSHSS; NF-I/X; SOTOS2

Gene ID: 4784 | Gene type: protein coding

About NFIX

Cytogenetic location: 19p13.13 Genomic coordinates (GRCh38): 19:12,995,475-13,098,796 (from NCBI)

This gene has 17 transcripts (splice variants), 283 orthologues, 3 paralogues and is associated with 6 phenotypes. Ubiquitous expression in brain (RPKM 36.5), fat (RPKM 32.4) and 23 other tissues.

Summary

The protein encoded by this gene is a transcription factor that binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3 in viral and cellular promoters. The encoded protein can also stimulate adenovirus replication in vitro. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012]

NFIX Products(10)

mRNA	Protein	Name
NM_001271043.2	NP_001257972.1	nuclear factor 1 X-type isoform 1
NM_001271044.3	NP_001257973.1	nuclear factor 1 X-type isoform 3
NM_001365902.3	NP_001352831.1	nuclear factor 1 X-type isoform 4
NM_001365982.2	NP_001352911.1	nuclear factor 1 X-type isoform 5
NM_001365983.2	NP_001352912.1	nuclear factor 1 X-type isoform 6
NM_001365984.2	NP_001352913.1	nuclear factor 1 X-type isoform 7
NM_001365985.2	NP_001352914.1	nuclear factor 1 X-type isoform 8
NM_001378404.1	NP_001365333.1	nuclear factor 1 X-type isoform 9
NM_001378405.1	NP_001365334.1	nuclear factor 1 X-type isoform 10
NM_002501.4	NP_002492.2	nuclear factor 1 X-type isoform 2

NFIX Protein Structure

NfI_DNAbd_pre-N

MH1

CTF_NFI

0
100
200
300
400
502 a.a.

Protein Preferred Names

Protein Names

nuclear factor 1 X-type

CCAAT-box-binding transcription factor

Related Diseases

Diseases

Alias

Malan Syndrome

Malan Overgrowth Syndrome	MALNS
Sotos Syndrome 2	Sotos Syndrome 2, Formerly
Sotos2, Formerly	Sotos2

Marshall-Smith Syndrome

MRSHSS	Accelerated Skeletal Maturation-Facial Dysmorphism-Failure To Thrive Syndrome
Mss

Sotos Syndrome 2

Sotos2

Sotos Syndrome, Type 2

19p13.3 Microduplication Syndrome

Dup(19)(P13.13)

Laryngomalacia

Congenital Laryngomalacia	Congenital Laryngeal Stridor
Laryngomalacia Congenital	Floppy Epiglottis

Exophthalmos

Proptosis

Megalocornea

Isolated Congenital Megalocornea	Congenital Anterior Megalophthalmia
Anterior Megalophthalmos	Mgc1
Mgcn	Congenital Keratoglobus

Strabismus

Strabismus, Susceptibility To	Strabismus, Susceptibility To, 1
Strabismus 1

Sotos Syndrome 1

Sotos1	Sotos Syndrome, Type 1
Sotos' Syndrome

Sotos Syndrome 3

Sotos3

Sotos Syndrome, Type 3

Brain Malformations With Or Without Urinary Tract Defects

Chromosome 1p32-P31 Deletion Syndrome	Nfia-Related Disorder
Chromosome 1, Monosomy 1p32	BRMUTD
1p31p32 Microdeletion Syndrome	Nfia Haploinsufficiency
Del(1)(P31p32)	Monosomy 1p31p32
Nfia-Related Disorders

Cornelia De Lange Syndrome 5

CDLS5

Cornelia De Lange Syndrome, Type 5

Cellular Neurofibroma

Developmental And Epileptic Encephalopathy 60

DEE60	Epileptic Encephalopathy, Early Infantile, 60
Eiee60	Developmental And Epileptic Encephalopathy, 60
Early Infantile Epileptic Encephalopathy 60

Sotos Syndrome

Cerebral Gigantism	SOTOS
Chromosome 5q35 Deletion Syndrome	Sotos Syndrome 1, Formerly
Sotos1, Formerly	Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development
Sotos Sequence	Sotos' Syndrome
Sotos1	Sotos Syndrome 1

Marshall Syndrome

MRSHS	Deafness, Myopia, Cataract, Saddle Nose-Marshall Type
Periodic Fever, Aphthous Stomatitis, Pharyngitis And Adenitis	Pfapa Syndrome
Pfapa	Marshall Syndrome With Periodic Fever
Periodic Fever-Aphtous Stomatitis-Pharyngitis-Adenopathy Syndrome

Developmental And Epileptic Encephalopathy 11

Epileptic Encephalopathy, Early Infantile, 11	DEE11
Eiee11	Developmental And Epileptic Encephalopathy, 11
Early Infantile Epileptic Encephalopathy 11	Encephalopathy, Developmental And Epileptic, Type 11

Scoliosis

Weaver Syndrome

Wss	Weaver-Smith Syndrome
WVS	Weaver-Like Syndrome
Weaver-Williams Syndrome	Camptodactyly-Overgrowth-Unusual Facies Syndrome
Camptodactyly - Overgrowth - Unusual Facies	Ezh2 Related Overgrowth
Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly	Weaver Smith Syndrome
Weaver Like Syndrome	Weaver Williams Syndrome
Camptodactyly-Overgrowth-Unusual Facies	Weaver Syndrome 1
Weaver Syndrome 2	Wvs1
Wvs2

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome	Fifth Digit Syndrome
Css	CSS1
Mrd12	Mental Retardation, Autosomal Dominant 12
Hhid	Dwarfism-Onychodysplasia
Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features	Autosomal Dominant Mental Retardation 12
Short Stature-Onychodysplasia.	Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx
Mental Retardation With Hypoplastic Fifth Fingernails And Toenails	Short Stature-Onychodysplasia
Coffin-Siris Syndrome, Type 1	Mental Retardation, Autosomal Dominant, Type 12

Diseases	Alias
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.	Product Name	Effect	Purity	Rare Diseases
HY-RS09253	NFIX Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	NFIX	MGD	MGI:97311
Canis familiaris	NFIX	VGNC	VGNC:43779
Rattus norvegicus	NFIX	RGD	RGD:69080
Bos taurus	NFIX	VGNC	VGNC:32042
Felis catus	NFIX	VGNC	VGNC:68479
Macaca mulatta	NFIX	VGNC	VGNC:75338