LHX4 - LIM homeobox 4 Gene

Also Known as CPHD4

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 89884

About LHX4

Cytogenetic location: 1q25.2 Genomic coordinates (GRCh38): 1:180,228,375-180,278,984 (from NCBI)

This gene has 3 transcripts (splice variants), 213 orthologues, 20 paralogues and is associated with 6 phenotypes. Ubiquitous expression in testis (RPKM 1.2), placenta (RPKM 0.8) and 24 other tissues.

Summary

This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor involved in the control of differentiation and development of the pituitary gland. Mutations in this gene cause combined pituitary hormone deficiency 4. [provided by RefSeq, Dec 2010]

LHX4 Products (1)

mRNA Protein Name
NM_033343.4 NP_203129.1 LIM/homeobox protein Lhx4
Molecular Function GO Annotation Evidence Verweise Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
15998782 GOA
enables methyl-CpG binding IDA
IDA: Inferred from direct assay
28473536 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
20211142 GOA
enables sequence-specific DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
15998782 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

LHX4 Protein Structure

LIM

LIM: LIM domain (30 - 85)

LIM

LIM: LIM domain (89 - 146)

Homeobox

Homeobox: Homeobox domain (158 - 214)

  • 0
  • 100
  • 200
  • 300
  • 390 a.a.
Protein Preferred Names Protein Names

LIM/homeobox protein Lhx4

  • LIM homeobox protein 4

LHX4 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
LHX4 Q969G2 FDX2 Homo sapiens Q6P4F2 25416956
Intra
LHX4 Q969G2 FDX2 Homo sapiens Q6P4F2 25416956
Intra
LHX4 Q969G2 LDB1 Homo sapiens Q86U70-2 28514442
Intra
LHX4 Q969G2 MRS2 Homo sapiens Q9HD23-2 32296183
Intra
LHX4 Q969G2 PARP11 Homo sapiens Q9NR21-1 32296183
Intra
LHX4 Q969G2 ISL2 Homo sapiens Q96A47 27820671
Intra
LHX4 Q969G2 ISL2 Homo sapiens Q96A47 35140242
Intra
LHX4 Q969G2 ISL2 Homo sapiens Q96A47 35140242
Intra
LHX4 Q969G2 ISL2 Homo sapiens Q96A47 33961781
Intra
LHX4 Q969G2 ISL2 Homo sapiens Q96A47 28514442
Intra
LHX4 Q969G2 CHCHD2 Homo sapiens Q9Y6H1 25416956
Intra
LHX4 Q969G2 LONRF1 Homo sapiens Q17RB8 25416956
Intra
LHX4 Q969G2 ERO1A Homo sapiens Q96HE7 32296183
Intra
LHX4 Q969G2 TXNDC5 Homo sapiens Q86UY0 25416956
Intra
LHX4 Q969G2 TXNDC5 Homo sapiens Q86UY0 25416956
Intra
LHX4 Q969G2 TXNDC5 Homo sapiens Q86UY0 25416956
Intra
LHX4 Q969G2 CORO1B Homo sapiens Q9BR76 32296183
Intra
LHX4 Q969G2 ORC6 Homo sapiens Q9Y5N6 32296183
Intra
LHX4 Q969G2 ORC6 Homo sapiens Q9Y5N6 25416956
Intra
LHX4 Q969G2 ORC6 Homo sapiens Q9Y5N6 25416956
Intra
LHX4 Q969G2 ORC6 Homo sapiens Q9Y5N6 31515488
Intra
LHX4 Q969G2 ISL1 Homo sapiens P61371 28514442
Intra
LHX4 Q969G2 ISL1 Homo sapiens P61371 33961781
Intra
LHX4 Q969G2 SH2D1A Homo sapiens O60880 25416956
Intra
LHX4 Q969G2 SH2D1A Homo sapiens O60880 25416956
Intra
LHX4 Q969G2 WASHC3 Homo sapiens Q9Y3C0 32296183
Intra
LHX4 Q969G2 INO80B Homo sapiens Q9C086 32296183
Intra
LHX4 Q969G2 MAPRE3 Homo sapiens Q9UPY8 32296183
Intra
LHX4 Q969G2 USP2 Homo sapiens O75604 25416956
Intra
LHX4 Q969G2 USP2 Homo sapiens O75604 25416956
Intra
LHX4 Q969G2 MYOZ1 Homo sapiens Q9NP98 32296183
Intra
LHX4 Q969G2 DHRS1 Homo sapiens Q96LJ7 32296183
Intra
LHX4 Q969G2 YY1 Homo sapiens P25490 35140242
Intra
LHX4 Q969G2 SNRNP25 Homo sapiens Q9BV90 25416956
Intra
LHX4 Q969G2 SNRNP25 Homo sapiens Q9BV90 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Pituitary Hormone Deficiency, Combined, 4
  • Short Stature-Pituitary And Cerebellar Defects-Small Sella Turcica Syndrome

  • CPHD4

  • Pituitary Hormone Deficiency, Combined, With Or Without Cerebellar Defects

  • Short Stature, Pituitary And Cerebellar Defects, And Small Sella Turcica

  • Pituitary Hormone Deficiency, Combined 4

  • Pituitary Hormone Deficiency, Combined With Or Without Cerebellar Defects

  • Short Stature, Pituitary And Cerebellar Defects And Small Sella Turcica

  • Pituitary Hormone Deficiency Combined With Or Without Cerebellar Defects

  • Short Stature Pituitary And Cerebellar Defects And Small Sella Turcica

  • Hormone Deficiency, Pituitary, Combined, Type 4

Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Combined Pituitary Hormone Deficiencies, Genetic Forms
  • Congenital Hypopituitarism

  • Pituitary Hormone Deficiency, Combined 1

  • Congenital Combined Pituitary Hormone Deficiency

  • Non-Acquired Combined Pituitary Hormone Deficiency

  • Cphd1

  • Familial Congenital Hypopituitarism

  • Multiple Pituitary Hormone Deficiencies, Genetic Forms

  • Combined Pituitary Hormone Deficiencies, Genetic Form

  • Hormone Deficiency, Pituitary, Combined, Type 1

Pituitary Stalk Interruption Syndrome
  • Ectopic Neurohypophysis

  • Psis

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

Pituitary Hypoplasia
  • Hypoplasia Of The Pituitary Gland

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

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

Sheehan Syndrome
  • Postpartum Hypopituitarism

  • Sheehan'S Syndrome

  • Postpartum Panhypopituitarism

  • Postpartum Panhypopituitary Syndrome

  • Postpartum Pituitary Necrosis

  • Simmond'S Disease

Culler-Jones Syndrome
  • Postaxial Polydactyly-Anterior Pituitary Anomalies-Facial Dysmorphism Syndrome

  • CJS

  • Pallister-Hall Syndrome 2, Formerly

  • Phs2, Formerly

  • Pallister-Hall Syndrome 2

  • Phs2

Pituitary Gland Disease
  • Pituitary Diseases

  • Pituitary Dysfunction

  • Pituitary Disease

  • Pituitary Deficiency

  • Pituitary Disorders

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

Panhypopituitarism, X-Linked
  • PHPX

  • X-Linked Panhypopituitarism

  • Pituitary Dwarfism Iv

  • Panhypopituitarism X-Linked

  • Pituitary Dwarfism Iv, Formerly

  • Panhypopituitarism - X-Linked

Hypogonadotropic Hypogonadism
  • Klinefelter Syndrome

  • Klinefelter'S Syndrome

  • Xxy Syndrome

  • Xxy Trisomy

  • Hypogonadotropism

  • 47, Xxy

  • Congenital Idiopathic Hypogonadotropic Hypogonadism

  • Isolated Congenital Gonadotropin Deficiency

  • 47,Xxy Syndrome

  • 47, Xxy Syndrome

  • Klinefelters Syndrome

  • Hypogonadism

  • Klinefelter Syndrome In Males

  • Klinefelter Syndrome, Unspecified

  • Klinefelter Syndrome Karyotype 47, Xxy

Hypothyroidism
  • Thyroid Diseases

  • Thyroid Disease

  • Thyroid Deficiency

  • Thyroid Insufficiency

  • Dysfunction Thyroid

  • Thyroid Dysfunction

Otopalatodigital Syndrome, Type I
  • Otopalatodigital Syndrome Type 1

  • Taybi Syndrome

  • OPD1

  • Opd Syndrome 1

  • Oto-Palato-Digital Syndrome Type 1

  • Opd I Syndrome

  • Oto-Palato-Digital Syndrome, Type I

  • Otopalatodigital Syndrome Type I

  • Opd Syndrome

  • Cranioorodigital Syndrome

  • Faciopalatoosseous Syndrome

  • Fpo

  • Opd Syndrome, Type 1

  • Otopalatodigital Syndrome 1

Hypophosphatemic Rickets, X-Linked Recessive
  • Hypophosphatemic Rickets

  • X-Linked Recessive Hypophosphatemic Rickets

  • XLRHR

  • Hypophosphatemic Rickets Disorders

  • Rickets Hypophosphatemic

  • Rickets, Hypophosphatemic, X-Linked Recessive

  • Familial Hypophosphatemic Rickets

Pallister-Hall Syndrome
  • PHS

  • Hypothalamic Hamartomas

  • Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, And Postaxial Polydactyly

  • Hypothalamic Hamartoblastoma Syndrome

  • Hamartoma Of The Hypothalamus

  • Pallister Hall Syndrome

  • Hall-Pallister Syndrome

  • Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus And Postaxial Polydactyly

  • Hamartoma, Hypothalamic

Holoprosencephaly
  • Holoprosencephaly Sequence

  • Hpe

  • Hpe - [Holoprosencephaly]

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

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 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

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

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

Orthologs Information

Species Symbol Source ID
Felis catus LHX4 VGNC VGNC:107893
Rattus norvegicus LHX4 RGD RGD:1308044
Canis familiaris LHX4 VGNC VGNC:42665
Mus musculus LHX4 MGD MGI:101776
Macaca mulatta LHX4 VGNC VGNC:106402
Bos taurus LHX4 VGNC VGNC:30874
Others LHX4 NCBI