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ODAPH odontogenesis associated phosphoprotein [ Homo sapiens (human) ]

Gene ID: 152816, updated on 23-Nov-2021

Summary

Official Symbol
ODAPHprovided by HGNC
Official Full Name
odontogenesis associated phosphoproteinprovided by HGNC
Primary source
HGNC:HGNC:26300
See related
Ensembl:ENSG00000174792 MIM:614829
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
AI2A4; C4orf26
Summary
Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene is thought to encode an extracellular matrix acidic phosphoprotein that has a function in enamel mineralization during amelogenesis. Mutations in this gene are associated with recessive hypomineralized amelogenesis imperfecta. [provided by RefSeq, Oct 2012]
Expression
Biased expression in placenta (RPKM 1.1) and testis (RPKM 0.0) See more
Orthologs
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Genomic context

See ODAPH in Genome Data Viewer
Location:
4q21.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (75554997..75565893)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (76481276..76491103)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986230 Neighboring gene ring finger and CHY zinc finger domain containing 1 Neighboring gene THAP domain containing 6 Neighboring gene cytochrome c oxidase subunit 6C pseudogene 9 Neighboring gene cyclin dependent kinase like 2 Neighboring gene G3BP stress granule assembly factor 2

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

Phenotypes

Associated conditions

Description Tests
Amelogenesis imperfecta, hypomaturation type IIA4
MedGen: C3553830 OMIM: 614832 GeneReviews: Not available
Compare labs
Genomic determinants of motor and cognitive outcomes in Parkinson's disease.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23657, FLJ23937, FLJ53097, MGC150951

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
odontogenesis associated phosphoprotein
Names
amelogenesis imperfecta type IIA4
uncharacterized protein C4orf26

NCBI Reference Sequences (RefSeq)

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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.

Genomic

  1. NG_032974.1 RefSeqGene

    Range
    5019..14838
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001206981.2NP_001193910.1  odontogenesis associated phosphoprotein isoform 1 precursor

    See identical proteins and their annotated locations for NP_001193910.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK300227, BC061701, BC117342, BX377852
    Consensus CDS
    CCDS56334.1
    UniProtKB/Swiss-Prot
    Q17RF5
    Related
    ENSP00000406925.2, ENST00000435974.2
  2. NM_001257072.2NP_001244001.1  odontogenesis associated phosphoprotein isoform 3 precursor

    See identical proteins and their annotated locations for NP_001244001.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon that results in a frameshift in the central and subsequent coding region, and it lacks a segment in the 3' coding region, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC096759, AK300227, BC144003, BX377852, R32248
    Consensus CDS
    CCDS75142.1
    UniProtKB/Swiss-Prot
    Q17RF5
    UniProtKB/TrEMBL
    A0A087WV33
    Related
    ENSP00000479147.1, ENST00000616557.1
    Conserved Domains (1) summary
    pfam15848
    Location:2676
    DUF4721; Domain of unknown function (DUF4721)
  3. NM_178497.5NP_848592.2  odontogenesis associated phosphoprotein isoform 2 precursor

    See identical proteins and their annotated locations for NP_848592.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon that results in a frameshift in the central and subsequent coding region, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC096759
    Consensus CDS
    CCDS3569.1
    UniProtKB/Swiss-Prot
    Q17RF5
    Related
    ENSP00000311307.5, ENST00000311623.9
    Conserved Domains (1) summary
    pfam15848
    Location:26117
    DUF4721; Domain of unknown function (DUF4721)

RNA

  1. NR_046429.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) includes an additional exon and lacks a segment in the 3' region, compared to variant 1. This variant is represented as non-coding because use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC096759, AK300227, BC144003, BX377852
  2. NR_046430.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate exon in the 5' region but includes an addtional exon and lacks a segment in the 3' region, compared to variant 1. This variant is represented as non-coding because use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC096759, AK300227, BC144005, BX377852

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    75554997..75565893
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531668.2XP_011529970.1  odontogenesis associated phosphoprotein isoform X1

    See identical proteins and their annotated locations for XP_011529970.1

    UniProtKB/Swiss-Prot
    Q17RF5
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