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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 (LIM Homeobox 4) is a Protein Coding gene. Diseases associated with LHX4 include Pituitary Hormone Deficiency, Combined, 4 and Pituitary Stalk Interruption Syndrome. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is LHX3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IBA | 21873635 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IDA | 15998782 |
GO:0003677 | DNA binding | IEA | -- |
GO:0005515 | protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001890 | placenta development | IEA | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0008045 | motor neuron axon guidance | IEA | -- |
GO:0009887 | animal organ morphogenesis | IEA | -- |
GO:0021526 | medial motor column neuron differentiation | IEA | -- |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||
SP2: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LHX4 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | LXH4 31 |
|
OneToOne | |
LHX4 30 |
|
||||
Dog (Canis familiaris) |
Mammalia | LHX4 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | LHX4 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Lhx4 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Lhx4 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | LHX4 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LHX4 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | LHX4 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | lhx4 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Lim3 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | ceh-14 31 32 |
|
OneToMany | |
lim-6 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.2190 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708304 | Likely Benign: not provided | 180,248,403(+) | G/A | SYNONYMOUS_VARIANT | |
720999 | Benign: not provided | 180,271,918(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
727667 | Benign: not provided | 180,266,528(+) | G/A | MISSENSE_VARIANT | |
735772 | Likely Benign: not provided | 180,266,602(+) | G/C | INTRON_VARIANT | |
738533 | Likely Benign: not provided | 180,274,459(+) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv474n100 | CNV | gain | 25217958 |
dgv476n100 | CNV | gain | 25217958 |
esv23910 | CNV | loss | 19812545 |
esv2660683 | CNV | deletion | 23128226 |
esv2661645 | CNV | deletion | 23128226 |
esv29505 | CNV | loss | 19812545 |
esv3588063 | CNV | loss | 21293372 |
esv3588064 | CNV | loss | 21293372 |
nsv1013076 | CNV | gain | 25217958 |
nsv466239 | CNV | gain | 19166990 |
nsv548345 | CNV | gain | 21841781 |
nsv832004 | CNV | gain | 17160897 |
nsv946527 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
pituitary hormone deficiency, combined, 4 |
|
|
pituitary stalk interruption syndrome |
|
|
hypothyroidism due to deficient transcription factors involved in pituitary development or function |
|
|
combined pituitary hormone deficiencies, genetic forms |
|
|
hypopituitarism |
|