Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3199
Gene name Gene Name - the full gene name approved by the HGNC.	Homeobox A2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	HOXA2
Synonyms (NCBI Gene) Gene synonyms aliases	HOX1K, MCOHI
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7p15.2
Summary Summary of gene provided in NCBI Entrez Gene.	In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic develo

Show/Hide all(3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs119489104	G>T	Pathogenic	Missense variant, coding sequence variant
rs398122360	G>A	Pathogenic	Stop gained, coding sequence variant
rs1554334301	C>A	Pathogenic	Coding sequence variant, stop gained

Show/Hide all(3)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017046	hsa-miR-335-5p	Microarray	18185580
MIRT1549597	hsa-miR-2052	CLIP-seq
MIRT1549597	hsa-miR-2052	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
CHD8	Unknown	20085832

Show/Hide all(40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0001709	Process	Cell fate determination	IEA
GO:0002076	Process	Osteoblast development	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007379	Process	Segment specification	IEA
GO:0007389	Process	Pattern specification process	IEA
GO:0008045	Process	Motor neuron axon guidance	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IEA
GO:0021568	Process	Rhombomere 2 development	IEA
GO:0021569	Process	Rhombomere 3 development	IEA
GO:0021658	Process	Rhombomere 3 morphogenesis	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0035284	Process	Brain segmentation	IEA
GO:0042474	Process	Middle ear morphogenesis	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045165	Process	Cell fate commitment	IEA
GO:0045665	Process	Negative regulation of neuron differentiation	IEA
GO:0045668	Process	Negative regulation of osteoblast differentiation	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048703	Process	Embryonic viscerocranium morphogenesis	IEA
GO:0048704	Process	Embryonic skeletal system morphogenesis	IEA
GO:0048706	Process	Embryonic skeletal system development	IEA
GO:0060037	Process	Pharyngeal system development	IEA
GO:0061061	Process	Muscle structure development	IEA
GO:0071300	Process	Cellular response to retinoic acid	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
604685	5103	ENSG00000105996

Protein

UniProt ID

O43364

Protein name

Homeobox protein Hox-A2 (Homeobox protein Hox-1K)

Protein function

Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	144 → 200	Homeodomain	Domain

Sequence

MNYEFEREIGFINSQPSLAECLTSFPPVADTFQSSSIKTSTLSHSTLIPPPFEQTIPSLN
PGSHPRHGAGGRPKPSPAGSRGSPVPAGALQPPEYPWMKEKKAAKKTALLPAAAAAATAA
ATGPACLSHKESLEIADGSGGGSRRLRTAYTNTQLLELEKEFHFNKYLCRPRRVEIAALL
DLTERQVKVWFQNRRMKHKRQTQCKENQNSEGKCKSLEDSEKVEEDEEEKTLFEQALSVS
GALLEREGYTFQQNALSQQQAPNGHNGDSQSFPVSPLTSNEKNLKHFQHQSPTVPNCLST
MGQNCGAGLNNDSPEALEVPSLQDFSVFSTDSCLQLSDAVSPSLPGSLDSPVDISADSLD
FFTDTLTTIDLQHLNY

Sequence length

376

Interactions

View interactions

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Bilateral Microtia-Deafness-Cleft Palate Syndrome	bilateral microtia-deafness-cleft palate syndrome	rs119489104	N/A
MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT	microtia with or without hearing impairment	rs398122360	N/A
MICROTIA WITHOUT HEARING IMPAIRMENT	microtia without hearing impairment	rs1554334301	N/A

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Carcinoma Non Small Cell Lung	Associate	37665081
Carcinoma Renal Cell	Associate	32444962
Cholangiocarcinoma	Associate	21876633
Chromosome Aberrations	Associate	23775976
Clubfoot	Associate	19938081
Colitis Ulcerative	Associate	32908909
Congenital Microtia	Associate	23775976
Esophageal Squamous Cell Carcinoma	Associate	39596630
Fibrosis	Associate	27152124
Glioma	Associate	32436804
Glioma	Stimulate	35349479
Hearing Loss	Associate	23775976
Leukemia Myeloid Acute	Stimulate	31426381
Nasopharyngeal Carcinoma	Associate	24243817
Neoplasms	Stimulate	32436804
Orofacial Cleft 1	Associate	28603561
Prostatic Neoplasms	Associate	30033361, 35372588, 37143720

HOXA2 (homeobox A2)