LHX3 - LIM homeobox 3 Gene

Also Known as LIM3; CPHD3; M2-LHX3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8022

About LHX3

Cytogenetic location: 9q34.3 Genomic coordinates (GRCh38): 9:136,196,250-136,205,128 (from NCBI)

This gene has 4 transcripts (splice variants), 201 orthologues, 20 paralogues and is associated with 4 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes a member of a large family of proteins which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor that is required for pituitary development and motor neuron specification. Mutations in this gene cause combined pituitary hormone deficiency 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

LHX3 Products (3)

mRNA	Protein	Name
NM_001363746.1	NP_001350675.1	LIM/homeobox protein Lhx3 isoform c
NM_014564.5	NP_055379.1	LIM/homeobox protein Lhx3 isoform b
NM_178138.6	NP_835258.1	LIM/homeobox protein Lhx3 isoform a

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	15271874	GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	26612202	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	15271874	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in inner ear development	IEP IEP: Inferred from expression pattern	18407919	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	15271874	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LHX3 Protein Structure

LIM

Homeobox

0
100
200
300
397 a.a.

Protein Preferred Names	Protein Names
LIM/homeobox protein Lhx3	LIM homeobox protein 3

LHX3 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82953	LHX3 Antibody (YA2698)	WB, IP, FC	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Pituitary Hormone Deficiency, Combined, 3	CPHD3 Non-Acquired Combined Pituitary Hormone Deficiency-Deafness-Rigid Cervical Spine Syndrome Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome Pituitary Hormone Deficiency, Combined, With Rigid Cervical Spine Deafness, Sensorineural, With Pituitary Dwarfism Pituitary Hormone Deficiency, Combined 3 Winkelmann-Bethge-Pfeiffer Syndrome Combined Pituitary Hormone Deficiency With Rigid Cervical Spine Sensorineural Deafness With Pituitary Dwarfism Pituitary Hormone Deficiency, Combined With Rigid Cervical Spine Hormone Deficiency, Pituitary, Combined, Type 3
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypopituitarism	Pituitary Hypofunction Pituitary Insufficiency Pituitary Hormone Deficiency Subpituitarism Hypophyseal Dystrophy Hypohypophysism Anterior Pituitary Insufficiency Deficient Secretion Of One Or More Pituitary Hormones Hypopituitarism Syndrome Pituitary Deficiency Pituitary Failure Pituitary Insufficiency Nos Anterior Pituitary Hypofunction Deficient Secretion Of All Pituitary Hormones Hypopituitary Dwarfism Hyposomatotropic Dwarfism Hypophyseal Dwarfism Hypopituitary Cachexia Hypophyseal Short Stature Panhypopituitarism Syndrome Pituitary Cachexia Juvenile Hypopituitarism Pituitary Dwarfism Pituitary Gland Hypofunction Primary Hypopituitarism Secondary Hypogonadism Prepubertal Panhypopituitarism Prepubertal Dwarfism Postpartum Panhypopituitary Syndrome Postpartum Hypopituitarism Pituitary Short Stature Pituitary Infantilism Pituitary Hypogonadism Pituitary Hypoadrenocorticism
Pituitary Hormone Deficiency, Combined, 2	Panhypopituitarism Combined Pituitary Hormone Deficiency CPHD2 Ateliotic Dwarfism With Hypogonadism Pituitary Dwarfism Iii Hanhart Dwarfism Simmond'S Disease Simmonds' Disease Cphd Pituitary Hormone Deficiency, Combined Hormone Deficiency, Pituitary, Combined, Type 2 Pituitary Dwarfism Type 3 Sheehan Syndrome
Septooptic Dysplasia	Septo-Optic Dysplasia De Morsier Syndrome Growth Hormone Deficiency With Pituitary Anomalies SOD Pituitary Hormone Deficiency, Combined, 5 Septo-Optic Dysplasia Spectrum Septo-Optic Dysplasia With Growth Hormone Deficiency Pituitary Hormone Deficiency, Combined 5 Hypopituitarism And Septooptic 'Dysplasia' GHDPA CPHD5 Dysplasia, Septo-Optic Kallmann Syndrome
Pituitary Gland Disease	Pituitary Diseases Pituitary Dysfunction Pituitary Disease Pituitary Deficiency Pituitary Disorders
Empty Sella Syndrome	Empty Sella Turcica Empty Sella
Nutritional Deficiency Disease	Malnutrition Nutritional Disorder Nutritional Deficiency Nutrition Deficiency Diseases Carbamoyl-Phosphate Synthase I Deficiency Disease Nutrition Disorders
Hypothyroidism	Thyroid Diseases Thyroid Disease Thyroid Deficiency Thyroid Insufficiency Dysfunction Thyroid Thyroid Dysfunction
Pituitary Hypoplasia	Hypoplasia Of The Pituitary Gland
Kallmann Syndrome	Hypogonadism With Anosmia Kallman'S Syndrome Anosmic Hypogonadism Anosmic Idiopathic Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism And Anosmia Hypogonadotropic Hypogonadism-Anosmia Syndrome Olfacto-Genital Pathological Sequence Familial Hypogonadism With Anosmia Kallman Syndrome Dysplasia Olfactogenitalis Of De Morsier Kallmann'S Syndrome Congenital Hypogonadotropic Hypogonadism With Anosmia
Acth Deficiency, Isolated	Adrenocorticotropic Hormone Deficiency IAD Congenital Isolated Acth Deficiency Isolated Acth Deficiency Isolated Adrenocorticotropic Hormone Deficiency Adrenocorticotropic Hormone Deficiency Adrenocorticotropic Hormone [Acth] Deficiency Secondary Adrenocortical Insufficiency
Deafness, Autosomal Dominant 15	DFNA15 Autosomal Dominant Nonsyndromic Deafness 15 Autosomal Dominant Deafness 15 Deafness, Autosomal Dominant, 15 Deafness, Autosomal Dominant, Type 15
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Isolated Growth Hormone Deficiency	Congenital Ighd Congenital Isolated Gh Deficiency Congenital Isolated Growth Hormone Deficiency Non-Acquired Isolated Growth Hormone Deficiency Pituitary Dwarfism Dwarfism, Pituitary Isolated Somatotropin Deficiency Isolated Congenital Growth Hormone Deficiency Familial Isolated Growth Hormone Deficiency Ighd Dwarfism, Growth Hormone Deficiency Growth Hormone Deficiency Dwarfism Isolated Gh Deficiency Isolated Hgh Deficiency Isolated Human Growth Hormone Deficiency Isolated Somatotropin Deficiency Disorder Dwarfism Pituitary
Holoprosencephaly	Holoprosencephaly Sequence Hpe Hpe - [Holoprosencephaly]
Congenital Hypothyroidism	Cretinism Neonatal Hypothyroidism Ch Cht Congenital Myxedema Myxedema, Congenital Endemic Cretinism Congenital Iodine-Deficiency Syndrome Fetal Iodine Deficiency Syndrome Congenital Iodine-Deficiency Hypothyroidism Nos
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism Undescended Testicle Undescended Testis Cryptorchism Undescended Testicles CRYPTO Impaired Testicular Descent Cryptosporidiosis Retained Testis Unilateral Cryptorchidism Unilateral Undescended Testis Nondescent Unilateral Testicle Unilateral Cryptorchism Ectopic Testis, Unilateral Bilateral Cryptorchidism Bilateral Cryptorchism Bilateral Nondescent Testicle Bilateral Undescended Testes Bilateral Ectopic Testes
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07633	LHX3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-174591	Human LHX3 mRNA		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	LHX3	VGNC	VGNC:30873
Rattus norvegicus	LHX3	RGD	RGD:71078
Felis catus	LHX3	VGNC	VGNC:102948
Canis familiaris	LHX3	VGNC	VGNC:42664
Mus musculus	LHX3	MGD	MGI:102673
Macaca mulatta	LHX3	VGNC	VGNC:74263
Others	LHX3	NCBI