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NKD2 NKD inhibitor of WNT signaling pathway 2 [ Homo sapiens (human) ]

Gene ID: 85409, updated on 22-Aug-2020

Summary

Official Symbol
NKD2provided by HGNC
Official Full Name
NKD inhibitor of WNT signaling pathway 2provided by HGNC
Primary source
HGNC:HGNC:17046
See related
Ensembl:ENSG00000145506 MIM:607852
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Naked2
Summary
This gene encodes a member of a family of proteins that function as negative regulators of Wnt receptor signaling through interaction with Dishevelled family members. The encoded protein participates in the delivery of transforming growth factor alpha-containing vesicles to the cell membrane. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]
Expression
Broad expression in lung (RPKM 6.0), skin (RPKM 2.9) and 15 other tissues See more
Orthologs

Genomic context

See NKD2 in Genome Data Viewer
Location:
5p15.33
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (1008802..1038943)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (1008941..1038927)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene thyroid hormone receptor interactor 13 Neighboring gene uncharacterized LOC100506688 Neighboring gene solute carrier family 12 member 7 Neighboring gene microRNA 4635 Neighboring gene uncharacterized LOC105374612

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
GeneReviews: Not available
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
growth factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
myosin heavy chain binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
cell periphery IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
exocytic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
lateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
protein naked cuticle homolog 2
Names
Dvl-binding protein NKD2
NKD2, WNT signaling pathway inhibitor
naked cuticle homolog 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001271082.2NP_001258011.1  protein naked cuticle homolog 2 isoform 2

    See identical proteins and their annotated locations for NP_001258011.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC116351
    Consensus CDS
    CCDS59486.1
    UniProtKB/Swiss-Prot
    Q969F2
    Related
    ENSP00000274150.4, ENST00000274150.4
  2. NM_033120.4NP_149111.1  protein naked cuticle homolog 2 isoform 1

    See identical proteins and their annotated locations for NP_149111.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC116351
    Consensus CDS
    CCDS3859.1
    UniProtKB/Swiss-Prot
    Q969F2
    Related
    ENSP00000296849.5, ENST00000296849.10

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    1008802..1038943
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248382.3XP_005248439.1  protein naked cuticle homolog 2 isoform X1

    See identical proteins and their annotated locations for XP_005248439.1

  2. XM_011514150.3XP_011512452.1  protein naked cuticle homolog 2 isoform X2

    See identical proteins and their annotated locations for XP_011512452.1

  3. XM_005248383.4XP_005248440.1  protein naked cuticle homolog 2 isoform X3

    See identical proteins and their annotated locations for XP_005248440.1

  4. XM_017010000.1XP_016865489.1  protein naked cuticle homolog 2 isoform X4

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187548.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    27309..57450
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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