ODAPH odontogenesis associated phosphoprotein [Homo sapiens (human)] - Gene

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; AllianceGenome:HGNC:26300
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: mouse all
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Genomic context

Location:: 4q21.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (75556066..75565893)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (78896230..78906039)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (76481276..76491103)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Autozygosity mapping and clonal sequencing of an Omani family identified mutations in the uncharacterized gene, C4orf26, as a cause of recessive hypomineralized amelogenesis imperfecta
Title: Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Amelogenesis imperfecta hypomaturation type 2A4 MedGen: C3553830 OMIM: 614832 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genomic determinants of motor and cognitive outcomes in Parkinson's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-50699 (e-PCR)
- UniSTS:32862

G16705 (e-PCR)
- UniSTS:29296

NoName (e-PCR)
- UniSTS:490482

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in positive regulation of biomineral tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of enamel mineralization	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of enamel mineralization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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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

NG_032974.1 RefSeqGene

Range

5019..13770

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001206981.2 → NP_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
NM_001257072.2 → NP_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/TrEMBL

A0A087WV33

Related

ENSP00000479147.1, ENST00000616557.1

Conserved Domains (1) summary

pfam15848
Location:26 → 76

DUF4721; Domain of unknown function (DUF4721)
NM_178497.5 → NP_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

B4DTI3, E7ETQ0, Q17RF5, Q8TEC3

Related

ENSP00000311307.5, ENST00000311623.9

Conserved Domains (1) summary

pfam15848
Location:26 → 117

DUF4721; Domain of unknown function (DUF4721)

RNA

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
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