Free for academic non-profit institutions. Other users need a Commercial license
This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. A partial gene fragment named LHFPL4 corresponds to a portion of the first exon of this gene. [provided by RefSeq, Jul 2008]
LHFPL3 (LHFPL Tetraspan Subfamily Member 3) is a Protein Coding gene. Diseases associated with LHFPL3 include Deafness, Autosomal Recessive 53 and Deafness, Autosomal Recessive 66. An important paralog of this gene is LHFPL4.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH07J104330 | Promoter | 1.5 | EPDnew Ensembl CraniofacialAtlas | 600.7 | +0.3 | 344 | 1.6 | ZNF692 ZIC2 EZH2 ZNF341 ZBTB44 CEBPB ZBTB20 SP2 RAD21 ZBTB10 | LHFPL3 RF00017-6539 KMT2E | |
GH07J104331 | Enhancer | 0.3 | Ensembl | 600.7 | +1.4 | 1445 | 0.2 | EZH2 | LHFPL3 RF00017-6539 KMT2E | |
GH07J104772 | Enhancer | 0.7 | Ensembl ENCODE | 9.8 | +444.4 | 444388 | 1.9 | TEAD4 KDM1A POLR2A YY1 RAD21 TAF1 EGR1 CHD2 | LHFPL3-AS1 LHFPL3 LOC105375436 lnc-KMT2E-10 KMT2E | |
GH07J104362 | Enhancer | 0.6 | Ensembl ENCODE | 11.8 | +34.8 | 34845 | 2.6 | CREB1 SCRT2 SP1 | LHFPL3 RF00017-6539 KMT2E | |
GH07J104361 | Enhancer | 0.3 | Ensembl | 11.1 | +32.5 | 32545 | 0.4 | NANOG ZBTB40 | LHFPL3 RF00017-6539 KMT2E |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IBA | 21873635 |
GO:0016020 | membrane | IEA,IBA | 21873635 |
GO:0016021 | integral component of membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007605 | sensory perception of sound | IBA | 21873635 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LHFPL3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LHFPL3 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | LHFPL3 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Lhfpl3 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Lhfpl3 30 17 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | LHFPL3 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | LHFPL3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | lhfpl3 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | lhfpl3 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Tmhs 30 31 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005724 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | F26D10.11 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
726410 | Likely Benign: not provided | 104,736,733(+) | A/G | SYNONYMOUS_VARIANT | |
765065 | Likely Benign: not provided | 104,329,001(+) | G/C | SYNONYMOUS_VARIANT | |
778025 | Benign: not provided | 104,329,077(+) | C/T | SYNONYMOUS_VARIANT | |
778026 | Likely Benign: not provided | 104,329,089(+) | G/T | MISSENSE_VARIANT | |
786772 | Benign: not provided | 104,328,851(+) | G/A | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
deafness, autosomal recessive 53 |
|
|
deafness, autosomal recessive 66 |
|
|