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This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique facial clefting-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A read-through transcript composed of SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and the downstream ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]
SPECC1L (Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1 Like) is a Protein Coding gene. Diseases associated with SPECC1L include Opitz Gbbb Syndrome, Type Ii and Facial Clefting, Oblique, 1. Gene Ontology (GO) annotations related to this gene include protein dimerization activity. An important paralog of this gene is SPECC1L-ADORA2A.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005815 | microtubule organizing center | IBA | 21873635 |
GO:0005819 | spindle | IEA | -- |
GO:0005829 | cytosol | IDA | -- |
GO:0005856 | cytoskeleton | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007049 | cell cycle | IEA | -- |
GO:0007155 | cell adhesion | IDA | 21703590 |
GO:0030036 | actin cytoskeleton organization | IBA | 21873635 |
GO:0051301 | cell division | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Methotrexate | Approved | Pharma | Folate antagonist,inhibits DFHR | 1825 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b | ^ | 19a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: |
ExUns: | 19b |
---|---|
SP1: | |
SP2: | |
SP3: | |
SP4: | |
SP5: | |
SP6: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SPECC1L 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Cow (Bos Taurus) |
Mammalia | -- 31 |
|
OneToMany | |
SPECC1L 30 |
|
||||
Dog (Canis familiaris) |
Mammalia | SPECC1L 30 31 |
|
OneToMany | |
Mouse (Mus musculus) |
Mammalia | Specc1l 30 17 31 |
|
OneToMany | |
Rat (Rattus norvegicus) |
Mammalia | Specc1l 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | SPECC1L 30 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | specc1l 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | specc1la 30 31 |
|
ManyToMany | |
specc1lb 31 |
|
ManyToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG13366 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3677 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.3747 30 |
|
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
599382 | Likely Pathogenic: Hypertelorism, Teebi type | 24,322,229(+) | A/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
691567 | Uncertain Significance: Craniosynostosis | 24,322,895(+) | C/T | NONSENSE,NON_CODING_TRANSCRIPT_VARIANT | |
691915 | Uncertain Significance: Craniosynostosis | 24,322,599(+) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
708016 | Benign: not provided | 24,322,709(+) | A/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
708645 | Benign: not provided | 24,328,848(+) | A/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4528n100 | CNV | gain | 25217958 |
dgv8039n54 | CNV | gain | 21841781 |
esv24290 | CNV | gain | 19812545 |
esv2724041 | CNV | deletion | 23290073 |
esv2724068 | CNV | deletion | 23290073 |
esv3575443 | CNV | gain | 25503493 |
esv3893463 | CNV | gain | 25118596 |
esv996036 | CNV | deletion | 20482838 |
nsv1055830 | CNV | gain | 25217958 |
nsv1057819 | CNV | gain | 25217958 |
nsv1110863 | OTHER | inversion | 24896259 |
nsv526567 | CNV | gain | 19592680 |
nsv588744 | CNV | gain | 21841781 |
nsv7350 | OTHER | inversion | 18451855 |
nsv834158 | CNV | gain | 17160897 |
nsv834160 | CNV | gain | 17160897 |
nsv953060 | CNV | duplication | 24416366 |
nsv953061 | CNV | deletion | 24416366 |
nsv964609 | CNV | duplication | 23825009 |
nsv964610 | CNV | duplication | 23825009 |
nsv966093 | CNV | duplication | 23825009 |
nsv979658 | CNV | duplication | 23825009 |
nsv9883 | CNV | gain+loss | 18304495 |
nsv9884 | CNV | gain+loss | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
opitz gbbb syndrome, type ii |
|
|
facial clefting, oblique, 1 |
|
|
hypertelorism, teebi type |
|
|
oculomaxillofacial dysostosis |
|
|
macrostomia, isolated |
|
|