SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1 like)

2014-11-01  

Identity

HGNC
SPECC1L
LOCATION
22q11.23
LOCUSID
23384
ALIAS
CYTSA,GBBB2,OBLFC1,TBHS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23384
MIM: 614140
HGNC: 29022
Ensembl: ENSG00000100014

Variants:

dbSNP: 23384
ClinVar: 23384
TCGA: ENSG00000100014
COSMIC: SPECC1L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100014ENST00000314328Q69YQ0
ENSG00000100014ENST00000421374C9J8U1
ENSG00000100014ENST00000437398Q69YQ0
ENSG00000100014ENST00000440893C9JLY8
ENSG00000100014ENST00000541492Q69YQ0
ENSG00000100014ENST00000651059A0A494C1J1

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443434Arthritis, RheumatoidDiseaseClinicalAnnotationassociatedPD18539621
PA450428methotrexateChemicalClinicalAnnotationassociatedPD18539621

References

Pubmed IDYearTitleCitations
222385722012Evidence for transcript networks composed of chimeric RNAs in human cells.35
217035902011Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting.14
253570342014Functional analysis of SPECC1L in craniofacial development and oblique facial cleft pathogenesis.10
254127412015Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.10
267875582016SPECC1L deficiency results in increased adherens junction stability and reduced cranial neural crest cell delamination.8
261110802015Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome.7

Citation

Dessen P

SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1 like)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74166/specc1l