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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	3142
Gene name	H2.0 like homeobox
Gene symbol	HLX
Synonyms (NCBI Gene)	HB24HLX1
Chromosome	1
Chromosome location	1q41

Show/Hide all (93)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052679	hsa-miR-1260b	CLASH	23622248
MIRT717649	hsa-miR-1276	HITS-CLIP	19536157
MIRT717648	hsa-miR-5582-5p	HITS-CLIP	19536157
MIRT717647	hsa-miR-3622a-5p	HITS-CLIP	19536157
MIRT717646	hsa-miR-645	HITS-CLIP	19536157
MIRT717645	hsa-miR-3670	HITS-CLIP	19536157
MIRT717644	hsa-miR-6878-5p	HITS-CLIP	19536157
MIRT717643	hsa-miR-3175	HITS-CLIP	19536157
MIRT717642	hsa-miR-1343-5p	HITS-CLIP	19536157
MIRT717641	hsa-miR-939-5p	HITS-CLIP	19536157
MIRT717640	hsa-miR-6825-5p	HITS-CLIP	19536157
MIRT717639	hsa-miR-4423-3p	HITS-CLIP	19536157
MIRT717638	hsa-miR-2110	HITS-CLIP	19536157
MIRT717637	hsa-miR-6810-5p	HITS-CLIP	19536157
MIRT717636	hsa-miR-3150a-3p	HITS-CLIP	19536157
MIRT717635	hsa-miR-6763-5p	HITS-CLIP	19536157
MIRT717634	hsa-miR-6857-5p	HITS-CLIP	19536157
MIRT717633	hsa-miR-450a-2-3p	HITS-CLIP	19536157
MIRT717632	hsa-miR-4260	HITS-CLIP	19536157
MIRT717631	hsa-miR-5572	HITS-CLIP	19536157
MIRT717649	hsa-miR-1276	HITS-CLIP	19536157
MIRT717648	hsa-miR-5582-5p	HITS-CLIP	19536157
MIRT717647	hsa-miR-3622a-5p	HITS-CLIP	19536157
MIRT717646	hsa-miR-645	HITS-CLIP	19536157
MIRT717645	hsa-miR-3670	HITS-CLIP	19536157
MIRT717644	hsa-miR-6878-5p	HITS-CLIP	19536157
MIRT717643	hsa-miR-3175	HITS-CLIP	19536157
MIRT717642	hsa-miR-1343-5p	HITS-CLIP	19536157
MIRT717641	hsa-miR-939-5p	HITS-CLIP	19536157
MIRT717640	hsa-miR-6825-5p	HITS-CLIP	19536157
MIRT717639	hsa-miR-4423-3p	HITS-CLIP	19536157
MIRT717638	hsa-miR-2110	HITS-CLIP	19536157
MIRT717637	hsa-miR-6810-5p	HITS-CLIP	19536157
MIRT717636	hsa-miR-3150a-3p	HITS-CLIP	19536157
MIRT717635	hsa-miR-6763-5p	HITS-CLIP	19536157
MIRT717634	hsa-miR-6857-5p	HITS-CLIP	19536157
MIRT717633	hsa-miR-450a-2-3p	HITS-CLIP	19536157
MIRT717632	hsa-miR-4260	HITS-CLIP	19536157
MIRT717631	hsa-miR-5572	HITS-CLIP	19536157
MIRT717649	hsa-miR-1276	HITS-CLIP	19536157
MIRT717648	hsa-miR-5582-5p	HITS-CLIP	19536157
MIRT717647	hsa-miR-3622a-5p	HITS-CLIP	19536157
MIRT717646	hsa-miR-645	HITS-CLIP	19536157
MIRT717645	hsa-miR-3670	HITS-CLIP	19536157
MIRT717644	hsa-miR-6878-5p	HITS-CLIP	19536157
MIRT717643	hsa-miR-3175	HITS-CLIP	19536157
MIRT717642	hsa-miR-1343-5p	HITS-CLIP	19536157
MIRT717641	hsa-miR-939-5p	HITS-CLIP	19536157
MIRT717640	hsa-miR-6825-5p	HITS-CLIP	19536157
MIRT717639	hsa-miR-4423-3p	HITS-CLIP	19536157
MIRT717638	hsa-miR-2110	HITS-CLIP	19536157
MIRT717637	hsa-miR-6810-5p	HITS-CLIP	19536157
MIRT717636	hsa-miR-3150a-3p	HITS-CLIP	19536157
MIRT717635	hsa-miR-6763-5p	HITS-CLIP	19536157
MIRT717634	hsa-miR-6857-5p	HITS-CLIP	19536157
MIRT717633	hsa-miR-450a-2-3p	HITS-CLIP	19536157
MIRT717632	hsa-miR-4260	HITS-CLIP	19536157
MIRT717631	hsa-miR-5572	HITS-CLIP	19536157
MIRT717649	hsa-miR-1276	HITS-CLIP	19536157
MIRT717648	hsa-miR-5582-5p	HITS-CLIP	19536157
MIRT717647	hsa-miR-3622a-5p	HITS-CLIP	19536157
MIRT717646	hsa-miR-645	HITS-CLIP	19536157
MIRT717645	hsa-miR-3670	HITS-CLIP	19536157
MIRT717644	hsa-miR-6878-5p	HITS-CLIP	19536157
MIRT717643	hsa-miR-3175	HITS-CLIP	19536157
MIRT717642	hsa-miR-1343-5p	HITS-CLIP	19536157
MIRT717641	hsa-miR-939-5p	HITS-CLIP	19536157
MIRT717640	hsa-miR-6825-5p	HITS-CLIP	19536157
MIRT717639	hsa-miR-4423-3p	HITS-CLIP	19536157
MIRT717638	hsa-miR-2110	HITS-CLIP	19536157
MIRT717637	hsa-miR-6810-5p	HITS-CLIP	19536157
MIRT717636	hsa-miR-3150a-3p	HITS-CLIP	19536157
MIRT717635	hsa-miR-6763-5p	HITS-CLIP	19536157
MIRT717634	hsa-miR-6857-5p	HITS-CLIP	19536157
MIRT717633	hsa-miR-450a-2-3p	HITS-CLIP	19536157
MIRT717632	hsa-miR-4260	HITS-CLIP	19536157
MIRT717631	hsa-miR-5572	HITS-CLIP	19536157
MIRT1048731	hsa-miR-3151	CLIP-seq
MIRT1048732	hsa-miR-3180	CLIP-seq
MIRT1048733	hsa-miR-3180-3p	CLIP-seq
MIRT1048734	hsa-miR-3196	CLIP-seq
MIRT1048735	hsa-miR-4676-5p	CLIP-seq
MIRT1048736	hsa-miR-503	CLIP-seq
MIRT1048737	hsa-miR-575	CLIP-seq
MIRT2546548	hsa-miR-1184	CLIP-seq
MIRT2546549	hsa-miR-34a	CLIP-seq
MIRT2546550	hsa-miR-34c-5p	CLIP-seq
MIRT2546551	hsa-miR-3672	CLIP-seq
MIRT2546552	hsa-miR-449a	CLIP-seq
MIRT2546553	hsa-miR-449b	CLIP-seq
MIRT2546554	hsa-miR-4669	CLIP-seq
MIRT1048735	hsa-miR-4676-5p	CLIP-seq
MIRT1048737	hsa-miR-575	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
POU5F1	Repression	17068183

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
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:0001889	Process	Liver development	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007165	Process	Signal transduction	TAS	8094082
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0035265	Process	Organ growth	IEA
GO:0043565	Function	Sequence-specific DNA binding	IBA
GO:0043565	Function	Sequence-specific DNA binding	IDA	9073066
GO:0045063	Process	T-helper 1 cell differentiation	IEA
GO:0045064	Process	T-helper 2 cell differentiation	IEA
GO:0045627	Process	Positive regulation of T-helper 1 cell differentiation	IEA
GO:0045629	Process	Negative regulation of T-helper 2 cell differentiation	IEA
GO:0046622	Process	Positive regulation of organ growth	IEA
GO:0048484	Process	Enteric nervous system development	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0048557	Process	Embryonic digestive tract morphogenesis	IEA
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA

MIM	HGNC	e!Ensembl
142995	4978	ENSG00000136630

Q14774

Protein name

H2.0-like homeobox protein (Homeobox protein HB24) (Homeobox protein HLX1)

Protein function

Transcription factor required for TBX21/T-bet-dependent maturation of Th1 cells as well as maintenance of Th1-specific gene expression. Involved in embryogenesis and hematopoiesis (By similarity).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	277 → 333	Homeodomain	Domain

Tissue specificity

TISSUE SPECIFICITY: Low level in normal B and T-cells, high level in activated lymphocytes and monocytes. Also found in thymus, tonsil, bone marrow, developing vessels, and fetal brain.

Sequence

MFAAGLAPFYASNFSLWSAAYCSSAGPGGCSFPLDPAAVKKPSFCIADILHAGVGDLGAA
PEGLAGASAAALTAHLGSVHPHASFQAAARSPLRPTPVVAPSEVPAGFPQRLSPLSAAYH
HHHPQQQQQQQQPQQQQPPPPPRAGALQPPASGTRVVPNPHHSGSAPAPSSKDLKFGIDR
ILSAEFDPKVKEGNTLRDLTSLLTGGRPAGVHLSGLQPSAGQFFASLDPINEASAILSPL
NSNPRNSVQHQFQDTFPGPYAVLTKDTMPQTYKRKRSWSRAVFSNLQRKGLEKRFEIQKY
VTKPDRKQLAAMLGLTDAQVKVWFQNRRMKWRHSKEAQAQKDKDKEAGEKPSGGAPAADG
EQDERSPSRSEGEAESESSDSESLDMAPSDTERTEGSERSLHQTTVIKAPVTGALITASS
AGSGGSSGGGGNSFSFSSASSLSSSSTSAGCASSLGGGGASELLPATQPTASSAPKSPEP
AQGALGCL

Sequence length

488

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIAPHRAGMATIC HERNIA, SHORT BOWEL, ASPLENIA SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIAPHRAGMATIC HERNIA-SHORT BOWEL-ASPLENIA SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HLX-related disorder	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Appendicitis	Associate	35693796	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Associate	15161049, 37719132	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	37719132	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fetal Growth Retardation	Inhibit	16436665, 20008130	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Associate	22014209	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Associate	37719132	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hernias Diaphragmatic Congenital	Associate	20799323	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Associate	1375114, 31825998	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma Large B Cell Diffuse	Associate	31141539	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	24067365	★★★★★ ★☆☆☆☆ Found in Text Mining only
Placenta Diseases	Associate	16436665	★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	28151996	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Associate	23243425	★★★★★ ★☆☆☆☆ Found in Text Mining only

HLX (H2.0 like homeobox)