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 b... See more...

Aliases for NIN Gene

Aliases for NIN Gene

  • Ninein 2 3 4 5
  • Glycogen Synthase Kinase 3 Beta-Interacting Protein 3 4
  • Ninein (GSK3B Interacting Protein) 2 3
  • HNinein 3 4
  • Ninein Centrosomal Protein 3
  • GSK3B-Interacting Protein 4
  • KIAA1565 4
  • SCKL7 3

External Ids for NIN Gene

Previous GeneCards Identifiers for NIN Gene

  • GC14M048508
  • GC14M044982
  • GC14M049176
  • GC14M050256
  • GC14M051187
  • GC14M031312

Summaries for NIN Gene

Entrez Gene Summary for NIN Gene

  • 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]

GeneCards Summary for NIN Gene

NIN (Ninein) is a Protein Coding gene. Diseases associated with NIN include Seckel Syndrome 7 and Seckel Syndrome. Gene Ontology (GO) annotations related to this gene include calcium ion binding and GTP binding. An important paralog of this gene is NINL.

UniProtKB/Swiss-Prot Summary for NIN Gene

  • Centrosomal protein required in the positioning and anchorage of the microtubule minus-end in epithelial cells (PubMed:15190203, PubMed:23386061). May also act as a centrosome maturation factor (PubMed:11956314). May play a role in microtubule nucleation, by recruiting the gamma-tubulin ring complex to the centrosome (PubMed:15190203). Overexpression does not perturb nucleation or elongation of microtubules but suppresses release of microtubules (PubMed:15190203). Required for centriole organization and microtubule anchoring at the mother centriole (PubMed:23386061).

Gene Wiki entry for NIN Gene

Additional gene information for NIN Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NIN Gene

Genomics for NIN Gene

GeneHancer (GH) Regulatory Elements for NIN Gene

Promoters and enhancers for NIN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J050828 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +1.5 1464 5.4 EP300 GTF2E2 PHF8 ZFX ZNF10 ZIC2 POLR2A ZBTB10 ZBTB26 RFX1 NIN ENSG00000258942 ENSG00000285747 ENSG00000258843 lnc-ABHD12B-2
GH14J050738 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 510.2 +90.7 90728 3.9 MEF2C ZNF316 ZNF384 ARNT MEF2B NFE2 MAFK JUND FOS NR2F1 NIN RF00017-1549 lnc-SAV1-2 SAV1 NONHSAG014927.2 ENSG00000270062 lnc-ABHD12B-2
GH14J050833 Enhancer 0.3 Ensembl 500.7 -1.9 -1936 0.2 HLF ENSG00000285747 NIN ENSG00000252945 lnc-ABHD12B-2
GH14J050784 Promoter/Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 21.3 +42.1 42054 9 MEF2C TRIM22 POLR2A RELA BCL11A TCF12 ZBTB17 CBFB ZNF384 SRF NIN ENSG00000252945 ABHD12B SAV1 LOC105370489 NONHSAG014927.2 lnc-ABHD12B-2
GH14J050773 Enhancer 1.1 Ensembl ENCODE dbSUPER 18.9 +54.1 54065 7.4 EP300 CTCF JUND REST RAD21 TRIM22 SMC3 OSR2 DEK MYNN NIN ABHD12B MAP4K5 ATL1 SAV1 NONHSAG014927.2 LOC105370489 lnc-ABHD12B-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NIN on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NIN

Top Transcription factor binding sites by QIAGEN in the NIN gene promoter:
  • Nkx2-5
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B
  • POU2F2C

Genomic Locations for NIN Gene

Genomic Locations for NIN Gene
chr14:50,719,763-50,831,165
(GRCh38/hg38)
Size:
111,403 bases
Orientation:
Minus strand
chr14:51,186,481-51,297,839
(GRCh37/hg19)
Size:
111,359 bases
Orientation:
Minus strand

Genomic View for NIN Gene

Genes around NIN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NIN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NIN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NIN Gene

Proteins for NIN Gene

  • Protein details for NIN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N4C6-NIN_HUMAN
    Recommended name:
    Ninein
    Protein Accession:
    Q8N4C6
    Secondary Accessions:
    • A6NDB8
    • B7WPA3
    • C9JSB6
    • C9JSG2
    • C9JXL2
    • Q5BKU3
    • Q6P0P6
    • Q9BWU6
    • Q9C012
    • Q9C013
    • Q9C014
    • Q9H5I6
    • Q9HAT7
    • Q9HBY5
    • Q9HCK7
    • Q9UH61

    Protein attributes for NIN Gene

    Size:
    2090 amino acids
    Molecular mass:
    243249 Da
    Quaternary structure:
    • Homooligomer. Interacts with GSK3B/GSK3-beta via its C-terminal domain (PubMed:11004522). Interacts with C14ORF166, such interaction may prevent its phosphorylation by GSK3B (PubMed:15147888). Interacts with AUNIP (via N-terminus) (PubMed:20596670). Identified in a complex with AUNIP and AURKA (PubMed:20596670). Interacts with CCDC120 (PubMed:28422092). Interacts (via C-terminus) with CEP250 (By similarity). Interacts with CEP170 (By similarity). Interacts with the gamma-tubulin ring complex component TUBGCP3 (By similarity). Interacts with gamma-tubulin (By similarity). Isoform 6 does not interact with CEP170 or CEP250 (By similarity).
    Miscellaneous:
    • Antibodies against NIN are present in sera from patients with autoimmune diseases that developed autoantibodies against centrosomal proteins.
    • [Isoform 2]: Dubious isoform produced through aberrant splice sites.
    • [Isoform 3]: Dubious isoform produced through aberrant splice sites.
    • [Isoform 4]: Dubious isoform produced through aberrant splice sites.
    SequenceCaution:
    • Sequence=AAH65521.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAH65521.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAK00628.1; Type=Miscellaneous discrepancy; Note=Several sequencing errors.; Evidence={ECO:0000305}; Sequence=AAK00629.1; Type=Miscellaneous discrepancy; Note=Several sequencing errors and frameshifts.; Evidence={ECO:0000305}; Sequence=AAK00630.1; Type=Miscellaneous discrepancy; Note=Several sequencing errors.; Evidence={ECO:0000305}; Sequence=BAB13391.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAB15640.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for NIN Gene

neXtProt entry for NIN Gene

Post-translational modifications for NIN Gene

  • Phosphorylated by AURKA/Aurora kinase A and PKA kinases but not CK2 or AURKB/ Aurora kinase B.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NIN Gene

Domains & Families for NIN Gene

Gene Families for NIN Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for NIN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NIN Gene

GenScript: Design optimal peptide antigens:
  • Glycogen synthase kinase 3 beta-interacting protein (NIN_HUMAN)
  • Ninein isoform 6 (Q5XUU0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N4C6

UniProtKB/Swiss-Prot:

NIN_HUMAN :
  • There is conflicting information regarding the regions required for centrosomal localization. One study shows that the region 1601-1682 is necessary and sufficient for targeting to the centrosome (PubMed:12927815). Another study shows that a separate region, 1291-1575, is important for centrosomal localization (PubMed:15190203). However, a third study shows that the coiled-coil region (373-1885) is not sufficient for centrosomal localization and instead localizes to cytoplasmic speckles (By similarity). The observed differences might be due to oligomerization of the longer coiled-coil domain-containing sequence, which would mask the shorter centrosomal targeting sequences (By similarity).
Domain:
  • There is conflicting information regarding the regions required for centrosomal localization. One study shows that the region 1601-1682 is necessary and sufficient for targeting to the centrosome (PubMed:12927815). Another study shows that a separate region, 1291-1575, is important for centrosomal localization (PubMed:15190203). However, a third study shows that the coiled-coil region (373-1885) is not sufficient for centrosomal localization and instead localizes to cytoplasmic speckles (By similarity). The observed differences might be due to oligomerization of the longer coiled-coil domain-containing sequence, which would mask the shorter centrosomal targeting sequences (By similarity).
  • The N-terminal domain is important for targeting to the mother centriole, although it is not sufficient by itself for centrosomal localization.
genes like me logo Genes that share domains with NIN: view

Function for NIN Gene

Molecular function for NIN Gene

UniProtKB/Swiss-Prot Function:
Centrosomal protein required in the positioning and anchorage of the microtubule minus-end in epithelial cells (PubMed:15190203, PubMed:23386061). May also act as a centrosome maturation factor (PubMed:11956314). May play a role in microtubule nucleation, by recruiting the gamma-tubulin ring complex to the centrosome (PubMed:15190203). Overexpression does not perturb nucleation or elongation of microtubules but suppresses release of microtubules (PubMed:15190203). Required for centriole organization and microtubule anchoring at the mother centriole (PubMed:23386061).

Phenotypes From GWAS Catalog for NIN Gene

Gene Ontology (GO) - Molecular Function for NIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 11004522
GO:0005525 GTP binding IEA --
GO:0019900 kinase binding IEA --
genes like me logo Genes that share ontologies with NIN: view
genes like me logo Genes that share phenotypes with NIN: view

Human Phenotype Ontology for NIN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NIN Gene

MGI Knock Outs for NIN:
  • Nin Nin<tm1b(EUCOMM)Hmgu>
  • Nin Nin<tm1d(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NIN

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NIN Gene

Localization for NIN Gene

Subcellular locations from UniProtKB/Swiss-Prot for NIN Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Note=Component of the core centrosome. Arranged in a tubular conformation with an open and a closed end within the centrosome. In the mother centrosome, it localizes at both ends of the centrosome tube, including the site of centrosome duplication, while in the daughter centrosome it is present only at the closed end. Requires PCM1 for centrosome localization. Localizes to the subdistal appendage region of the centriole in a DCTN1-dependent manner. {ECO:0000269 PubMed:11956314, ECO:0000269 PubMed:12403812, ECO:0000269 PubMed:23386061}.
[Isoform 6]: Cytoplasm. Note=Seems to have a dominant-negative effect on localization of other isoforms, promoting their dissociation from the centrosome. {ECO:0000250 UniProtKB:Q61043}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NIN gene
Compartment Confidence
cytoskeleton 5
nucleus 5
plasma membrane 3
cytosol 3
golgi apparatus 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (4)
  • Nucleoli (4)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000242 pericentriolar material IDA,IBA 8834802
GO:0000922 spindle pole IMP 18331714
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
genes like me logo Genes that share ontologies with NIN: view

Pathways & Interactions for NIN Gene

PathCards logo

SuperPathways for NIN Gene

No Data Available

SIGNOR curated interactions for NIN Gene

Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for NIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008104 protein localization IMP 23213374
GO:0010457 centriole-centriole cohesion IMP 23213374
GO:0021540 corpus callosum morphogenesis IEA --
GO:0021957 corticospinal tract morphogenesis IEA --
GO:0031116 positive regulation of microtubule polymerization IEA --
genes like me logo Genes that share ontologies with NIN: view

No data available for Pathways by source for NIN Gene

Drugs & Compounds for NIN Gene

(2) Drugs for NIN Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with NIN: view

Transcripts for NIN Gene

mRNA/cDNA for NIN Gene

5 REFSEQ mRNAs :
24 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NIN

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NIN Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a ·
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - - -
SP5: - - - - - - -
SP6:
SP7:
SP8:
SP9: - -
SP10: - -
SP11: - -
SP12:
SP13:
SP14:

ExUns: 15b ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32 ^ 33a · 33b ^ 34a · 34b ·
SP1: - - - -
SP2: - - - - -
SP3: - - - - -
SP4: - - - - - -
SP5:
SP6: - - - -
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

ExUns: 34c · 34d · 34e ^ 35a · 35b · 35c
SP1:
SP2: - - -
SP3:
SP4:
SP5:
SP6: - - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: - - -

Relevant External Links for NIN Gene

GeneLoc Exon Structure for
NIN

Expression for NIN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NIN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NIN Gene

This gene is overexpressed in Whole Blood (x5.3).

Protein differential expression in normal tissues from HIPED for NIN Gene

This gene is overexpressed in Uterus (26.0) and Peripheral blood mononuclear cells (12.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NIN Gene



Protein tissue co-expression partners for NIN Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NIN

SOURCE GeneReport for Unigene cluster for NIN Gene:

Hs.310429

mRNA Expression by UniProt/SwissProt for NIN Gene:

Q8N4C6-NIN_HUMAN
Tissue specificity: Ubiquitous. Highly expressed in heart and skeletal muscle. Isoform 1 is more expressed than isoform 5.

Evidence on tissue expression from TISSUES for NIN Gene

  • Nervous system(4.7)
  • Bone marrow(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NIN Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
  • thyroid
Thorax:
  • breast
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • large intestine
  • small intestine
Pelvis:
  • ovary
  • pelvis
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with NIN: view

Orthologs for NIN Gene

This gene was present in the common ancestor of animals.

Orthologs for NIN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NIN 31 30
  • 99.47 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NIN 31 30
  • 87.98 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NIN 31 30
  • 87.86 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nin 30
  • 82.04 (n)
mouse
(Mus musculus)
Mammalia Nin 17 31 30
  • 81.67 (n)
oppossum
(Monodelphis domestica)
Mammalia NIN 31
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves NIN 31 30
  • 66.34 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NIN 31
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nin 30
  • 62.1 (n)
Str.20462 30
zebrafish
(Danio rerio)
Actinopterygii nin 31
  • 22 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Bsg25D 31
  • 17 (a)
OneToMany
Species where no ortholog for NIN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NIN Gene

ENSEMBL:
Gene Tree for NIN (if available)
TreeFam:
Gene Tree for NIN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NIN: view image

Paralogs for NIN Gene

Paralogs for NIN Gene

(1) SIMAP similar genes for NIN Gene using alignment to 10 proteins:

  • NIN_HUMAN
  • C9J066_HUMAN
  • E9PJH9_HUMAN
  • E9PN67_HUMAN
  • F8W6D3_HUMAN
  • H0YDJ4_HUMAN
  • H7C162_HUMAN
  • H9KV85_HUMAN
  • Q5XUU0_HUMAN
  • R4GN85_HUMAN
genes like me logo Genes that share paralogs with NIN: view

Variants for NIN Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NIN Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
711608 Likely Benign: not provided 50,741,738(-) G/A INTRON_VARIANT
711609 Likely Benign: not provided 50,752,551(-) A/G SYNONYMOUS_VARIANT
713997 Likely Benign: not provided 50,756,674(-) T/C SYNONYMOUS_VARIANT,INTRON_VARIANT
716999 Benign: not provided 50,760,184(-) T/C MISSENSE_VARIANT
719264 Benign: not provided 50,806,820(-) T/TA INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for NIN Gene

Structural Variations from Database of Genomic Variants (DGV) for NIN Gene

Variant ID Type Subtype PubMed ID
esv3634490 CNV loss 21293372
nsv1040775 CNV gain 25217958
nsv1143749 CNV deletion 24896259
nsv472262 CNV novel sequence insertion 20440878
nsv564840 CNV gain 21841781
nsv832794 CNV gain 17160897

Variation tolerance for NIN Gene

Residual Variation Intolerance Score: 64.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.82; 89.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NIN Gene

Human Gene Mutation Database (HGMD)
NIN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NIN

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NIN Gene

Disorders for NIN Gene

MalaCards: The human disease database

(9) MalaCards diseases for NIN Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
seckel syndrome 7
  • sckl7
seckel syndrome
  • sckl
keratomalacia
  • night blindness
meckel syndrome, type 1
  • mks1
microcephaly
  • microcephalus
- elite association - COSMIC cancer census association via MalaCards
Search NIN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NIN_HUMAN
  • Seckel syndrome 7 (SCKL7) [MIM:614851]: A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation. {ECO:0000269 PubMed:22933543}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NIN

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NIN: view

No data available for Genatlas for NIN Gene

Publications for NIN Gene

  1. Cloning and characterization of a novel human ninein protein that interacts with the glycogen synthase kinase 3beta. (PMID: 11004522) Hong YR … Howng SL (Biochimica et biophysica acta 2000) 2 3 4 23 54
  2. Genomic organization and molecular characterization of the human ninein gene. (PMID: 11162463) Hong YR … Howng SL (Biochemical and biophysical research communications 2000) 2 3 4 23 54
  3. A novel ninein-interaction protein, CGI-99, blocks ninein phosphorylation by GSK3beta and is highly expressed in brain tumors. (PMID: 15147888) Howng SL … Hong YR (FEBS letters 2004) 3 4 23 54
  4. Human ninein is a centrosomal autoantigen recognized by CREST patient sera and plays a regulatory role in microtubule nucleation. (PMID: 15190203) Stillwell EE … Joshi HC (Cell cycle (Georgetown, Tex.) 2004) 3 4 23 54
  5. Molecular characterization of human ninein protein: two distinct subdomains required for centrosomal targeting and regulating signals in cell cycle. (PMID: 12927815) Chen CH … Hong YR (Biochemical and biophysical research communications 2003) 3 4 23 54

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