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Symbol NHS contributors: mct/npt - updated : 26-10-2018
HGNC name Nance-Horan syndrome (congenital cataracts and dental anomalies)
HGNC id 7820
Corresponding disease
CCXNS3 non syndromic congenital cataract 3
NHS Nance-Horan syndrome
Location Xp22.2      Physical location : 17.393.542 - 17.754.111
Synonym name Nance-Horan syndrome protein
Synonym symbol(s) SCML1, FLJ22511, DKFZp781F2016, DKFZp781L0254, CTRCT40, CXN
TYPE functioning gene
STRUCTURE 360.57 kb     10 Exon(s)
MAPPING cloned Y linked N status provisional
Physical map
ASB9 Xp ankyrin repeat and SOCS box-containing 9 ASB11 Xp22.31 ankyrin repeat and SOCS box-containing 11 PIGA Xp22.1 phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria) FIGF Xp22.1 c-fos induced growth factor (vascular endothelial growth factor D) PIR Xp22.31 c-fos induced growth factor (vascular endothelial growth factor D) BMX Xp22.2 BMX non-receptor tyrosine kinase ACE2 Xp22 angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 NX17 Xp22 kidney-specific membrane protein LOC340591 Xp22.31 similar to carbonic anhydrase VB, mitochondrial precursor; carbonic dehydratase CA5B Xp22.1 carbonic anhydrase VB, mitochondrial U2AF1L2 Xp22.1 U2(RNU2) small nuclear RNA auxiliary factor 1-like 2 AP1S2 Xp36.3-p21.3 adaptor-related protein complex 1, sigma 2 subunit GRPR Xp22.2-p22.13 gastrin-releasing peptide receptor LOC139451 Xp22.22 similar to melanoma antigen, family B, 4; melanoma-associated antigen B4 LOC139452 Xp22.22 similar to 60S ribosomal protein L6 (TAX-responsive enhancer element binding protein 107) (TAXREB107) (Neoplasm-related protein C140) LOC392429 X similar to Hspcb protein CTPS2 Xp22 CTP synthase II CALB3 Xp22.2 calbindin 3, (vitamin D-dependent calcium binding protein) SYAP1 Xp22.31 synapse associated protein 1, SAP47 homolog (Drosophila) CXorf15 Xp22.22 chromosome X open reading frame 15 RBBP7 Xp22.31 retinoblastoma binding protein 7 RNU4P6 Xp22.22 RNA, U4 small nuclear pseudogene 6 REPS2 Xp22.22 RALBP1 associated Eps domain containing 2 PRO0386 Xp22.22 hypothetical protein PRO0386 NHS Xp22.13 Nance-Horan syndrome (congenital cataracts and dental anomalies) SCML1 Xp22 sex comb on midleg-like 1 (Drosophila) LOC392430 X similar to dJ40E16.3 (novel gene similar to D. melanogaster CG5327 ) RAI2 Xp22 retinoic acid induced 2 LOC392431 X similar to Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse) MGC33653 Xp22.22 hypothetical protein MGC33653 SCML2 Xp22 sex comb on midleg-like 2 (Drosophila) CDKL5 Xp22 cyclin-dependent kinase-like 5 RS1 Xp22.2 retinoschisis (X-linked, juvenile) 1 PPEF1 Xp22.2-p22.1 protein phosphatase, EF hand calcium-binding domain 1 PHKA2 Xp22.2-p22.13 phosphorylase kinase, alpha 2 (liver) GPR64 Xp22.22 G protein-coupled receptor 64 PDHA1 Xp22.1 pyruvate dehydrogenase (lipoamide) alpha 1 LOC389840 X similar to MAP/ERK kinase kinase 5; apoptosis signal regulating kinase
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 8244 160.8 1474 - 2010 20332100
  • also called NHS-A
  • having an unusually large intron 1 (350 kb)
  • with NHS-1A are both transcribed from exon 1, but differ in the presence or absence of exon 3a
  • differ from other NHS isoforms in that they contain a WHD domain
  • are critical to the pathogenesis of NHS
  • 8 - 8776 176.7 1630 - 2010 20332100
  • also called NHS-C
  • transcribed and translated from exon 1a
  • thought to be important in the pathogenesis of NHS, because patient mutations identified in exon 1 are only predicted to affect this isoform
  • - - - - 1355 - 2010 20332100
  • also called NHS-B
  • transcribed from exon 1b and translated from exon 4
  • 9 - 8839 - 1651 - 2010 20332100
  • NHS1A
  • with NHS-A are both transcribed from exon 1, but differ in the presence or absence of exon 3a . differ from other NHS isoforms in that they contain a WHD domain . are critical to the pathogenesis of NHS
  • 8 - 8181 - 1453 - 2010 20332100
    Type widely
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately Homo sapiens
    Digestivemouthtooth  moderately Homo sapiens
    Hearing/Equilibriumearinnercochlea highly
    Nervousbrain     Homo sapiens
    Respiratoryrespiratory tractlarynx  highly
    Visualeyelens  highly Homo sapiens
     eyeretina  moderately Homo sapiens
    SystemCellPubmedSpeciesStageRna symbol
    Respiratoryepithelial cell
    cell lineage
    cell lines
    at STAGE
    physiological period fetal
    Text teeth, brain, fetal eyes, lens, eye anterior segment, optic nerve, retina foveal and macular, RPE and choroid
  • four conserved nuclear localization signals
  • a functional WHD (WAVE homology domain) which interacts with the Abi family of proteins (Brooks 2010)
    interspecies ortholog to murine Xcat
  • NHS family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,tight
    intracellular,nucleus,nucleoplasm,nuclear bodies
  • localized at the tight junction (Sharma 2006)
  • localizes to sites of cell–cell contact, the leading edge of lamellipodia and focal adhesions (Brooks 2010)
  • basic FUNCTION
  • key functions in the regulation of eye, tooth, brain and craniofacial development
  • regulator of actin remodelling and cell morphology, that orchestrates actin regulatory protein function in response to signalling events during development (Brooks 2010)
  • essential for maintaining cell morphology through the regulation of actin cytoskeletal dynamics (Brooks 2010)
  • also controls lamellipod protrusions in motile cells (Brooks 2010)
  • regulatory role of NHS in actin remodeling, is cell type dependent
  • encode for a functional WAVE homology domain and to be a part of WAVE heteropentameric complex that is critical for actin remodeling and cell morphology control, and subsequently, for cell motility, migration, and cell contact
    a component
    small molecule
    cell & other
    corresponding disease(s) NHS , CCXNS3
    Variant & Polymorphism
    Candidate gene
    Therapy target