NHS

GENERAL INFORMATION

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Gene name

NHS

Gene description

Nance-Horan syndrome (congenital cataracts and dental anomalies)

Protein class

Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

4
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Mixed
GTEx:Mixed

Protein evidence

Evidence at protein level

Protein localization

Most of the normal tissues showed weak to moderate cytoplasmic positivity in a granular pattern. Strong staining was seen in salivary ductal cells, hepatocytes, renal tubuli, adrenal cortex, endometrial glands and neuronal cells of CNS. Reaction center cells of lymphoid tissues were negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA031497
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Mixed

Organ

Expression

GTEx dataset
RNA tissue category:  Mixed

Organ

Expression



GENE INFORMATION

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Gene name

NHS

Synonyms

Description

Nance-Horan syndrome (congenital cataracts and dental anomalies) (HGNC Symbol)

Entrez gene summary

This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014]

Chromosome

X

Cytoband

Chromosome location (bp)

17375420 - 17735994

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000188158 (version 78.38)

Entrez gene

4810

UniProt

Q6T4R5 (UniProt - Evidence at protein level)

neXtProt

NX_Q6T4R5

Antibodypedia

NHS antibodies


PROTEIN BROWSER

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ENST00000380060
 
ENST00000398097
 
ENST00000615422
 
ENST00000617601
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

NHS-001 ENSP00000369400
ENST00000380060
Q6T4R5
Show all »
Show » Show » 1630 176.7 No 0
NHS-003 ENSP00000381170
ENST00000398097
Q6T4R5
Show all »
Show » Show » 1474 160.8 No 0
NHS-201 ENSP00000480113
ENST00000615422
Show » 1471 160.5 No 0
NHS-202 ENSP00000478433
ENST00000617601
Show » 1447 157.8 No 0