NIN - ninein Gene

Homo sapiens

Also known as SCKL7

Gene ID: 51199 | Gene type: protein coding

About NIN

Cytogenetic location: 14q22.1 Genomic coordinates (GRCh38): 14:50,719,763-50,831,503 (from NCBI)

This gene has 21 transcripts (splice variants), 206 orthologues, 1 paralogue and is associated with 89 phenotypes. Ubiquitous expression in lymph node (RPKM 13.5), appendix (RPKM 9.8) and 24 other tissues.

Summary

This gene encodes one of the proteins important for centrosomal function. This protein is important for positioning and anchoring the microtubules minus-ends in epithelial cells. Localization of this protein to the centrosome requires three leucine zippers in the central coiled-coil domain. Multiple alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq, Jul 2008]

NIN Products(4)

mRNA	Protein	Name
NM_016350.5	NP_057434.4	ninein isoform 6
NM_020921.4	NP_065972.4	ninein isoform 2
NM_182944.3	NP_891989.3	ninein isoform 1
NM_182946.2	NP_891991.2	ninein isoform 5

NIN Protein Structure

EF-hand_6

0
400
800
1200
1600
2090 a.a.

Protein Preferred Names

Protein Names

ninein

glycogen synthase kinase 3 beta-interacting protein

Related Diseases

Diseases

Alias

Seckel Syndrome 7

SCKL7	Microcephalic Primordial Dwarfism, Dauber Type
Seckel Syndrome, Type 7

Seckel Syndrome

Microcephalic Primordial Dwarfism	Bird-Headed Dwarfism
Harper'S Syndrome	Virchow-Seckel Dwarfism
Nanocephalic Dwarfism	Sckl
Seckel-Type Dwarfism

Dental Anomalies And Short Stature

Brachyolmia-Amelogenesis Imperfecta Syndrome	Platyspondyly With Amelogenesis Imperfecta
DASS	Verloes Bourguignon Syndrome
Verloes-Bourguignon Syndrome	Vbs
Sthag6	Tooth Agenesis, Selective, 6
Tooth Agenesis, Selective, 6, Formerly	Sthag6, Formerly
Selective Tooth Agenesis 5	Amelogenesis Imperfecta And Platyspondyly
Skeletal Dysplasia With Amelogenesis Imperfecta And Platyspondyly	Platyspondyly-Amelogenesis Imperfecta Syndrome

Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2

SEMDJL2	Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations, Hall Type	Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 2
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations Hall Type	Spondyloepimetaphyseal Dysplasia With Joint Laxity, Hall Type
Semd-Md	Spondyloepimetaphyseal Dysplasia With Joint Laxicity, Hall Type
Spondyloepimetaphyseal Dysplasia With Joint Laxity, 2	Lepto-Semdjl
Spondyloepimetaphyseal Dysplasia With Joint Laxity Hall Type	Spondyloepimetaphyseal Dysplasia With Joint Laxity Leptodactylic Type
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations

Seckel Syndrome 4

SCKL4

Seckel Syndrome, Type 4

Meckel Syndrome, Type 1

Meckel-Gruber Syndrome	Meckel Syndrome
Dysencephalia Splanchnocystica	Meckel Syndrome 1
MKS1	Mks
Gruber Syndrome	Meckel-Gruber Syndrome, Type 1
Mes	Dysencephalia Splachnocystica
Meckel Gruber Syndrome	Meckel Syndrome Type 1

Orofaciodigital Syndrome I

OFD1	Orofaciodigital Syndrome 1
Oral-Facial-Digital Syndrome, Type I	Oral-Facial-Digital Syndrome 1
Ofds I	Papillon-Leage And Psaume Syndrome
Papillon-Leage-Psaume Syndrome	Oral-Facial-Digital Syndrome Type 1
Orofaciodigital Syndrome Type 1	Orofaciodigital Syndromes
Orofaciodigital Syndrome Type I	Oral-Facial-Digital Syndrome Type I
Ofd Syndrome 1	Ofds 1
Oral Facial Digital Syndrome 1	Oral Facial Digital Syndrome Type 1
Papillon-League-Psaume Syndrome	Ofdi
Ofdsi	Orofaciodigital Syndrome, Type I

Primary Microcephaly

True Microcephaly

Microcephaly, Primary

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Isolated Growth Hormone Deficiency, Type Ia

Ighd Ia	Primordial Dwarfism
Isolated Growth Hormone Deficiency Type Ia	Sexual Ateleiotic Dwarfism
Pituitary Dwarfism I	IGHD1A
Illig-Type Growth Hormone Deficiency	Growth Hormone Deficiency, Isolated, Type Ia
Congenital Ighd Type Ia	Congenital Isolated Gh Deficiency Type Ia
Congenital Isolated Growth Hormone Deficiency Type Ia	Pituitary Dwarfism 1
Growth Hormone Deficiency, Isolated, Autosomal Recessive	Autosomal Recessive Isolated Growth Hormone Deficiency
Isolated Growth Hormone Deficiency Type 1a	Congenital Ighd
Congenital Isolated Gh Deficiency	Congenital Isolated Growth Hormone Deficiency
Growth Hormone Deficiency, Isolated Autosomal Recessive	Illig Type Growth Hormone Deficiency
Non-Acquired Isolated Growth Hormone Deficiency	Growth Hormone Deficiency, Isolated, 1a
Growth Hormone Deficiency Isolated Autosomal Recessive	Dwarfism, Primordial
Dwarfism

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly	Mcph
True Microcephaly	Microcephalia Vera
Microcephaly Vera	Microcephaly Primary Hereditary
Microcephaly, Primary, Autosomal Recessive	Primary Microcephaly

Periventricular Nodular Heterotopia

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

Nephronophthisis

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

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-150235	Galectin-8N-IN-1	Inhibitor	98.09%	Unkown
HY-RS09297	NIN Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	NIN	VGNC	VGNC:43810
Rattus norvegicus	NIN	RGD	RGD:1306492
Mus musculus	NIN	MGD	MGI:105108
Macaca mulatta	NIN	VGNC	VGNC:75177
Bos taurus	NIN	VGNC	VGNC:32077
Felis catus	NIN	VGNC	VGNC:63804
Macaca fascicularis	NIN	NCBI
Others	NIN	NCBI

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