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

Homo sapiens

Also known as TBHS; CYTSA; GBBB2; TBHS1; OBLFC1

Gene ID: 23384 | Gene type: protein coding

About SPECC1L

Cytogenetic location: 22q11.23 Genomic coordinates (GRCh38): 22:24,270,831-24,417,738 (from NCBI)

This gene has 8 transcripts (splice variants), 211 orthologues, 1 paralogue and is associated with 6 phenotypes. Ubiquitous expression in testis (RPKM 21.3), thyroid (RPKM 13.1) and 25 other tissues.

Summary

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 Products(4)

mRNA	Protein	Name
NM_001145468.4	NP_001138940.4	cytospin-A isoform 1
NM_001254732.3	NP_001241661.3	cytospin-A isoform 2
NM_001254733.2	NP_001241662.2	cytospin-A isoform 3
NM_015330.6	NP_056145.5	cytospin-A isoform 1

SPECC1L Protein Structure

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1117 a.a.

Protein Preferred Names

Protein Names

cytospin-A

SPECC1-like protein

Related Diseases

Diseases

Alias

Facial Clefting, Oblique, 1

Oculomaxillofacial Dysostosis	Oculomaxillofacial Dysplasia With Oblique Facial Clefts
OBLFC1	Oblique Facial Clefting 1
Tessier Number 4 Facial Cleft	Oblique Facial Cleft
Orbitofacial Cleft	Oblique Facial Clefts
Richieri Costa Gorlin Syndrome	Richieri-Costa-Gorlin Syndrome
Facial Clefting, Oblique, Type 1

Teebi Hypertelorism Syndrome 1

Teebi Hypertelorism Syndrome	Brachycephalofrontonasal Dysplasia
Hypertelorism, Teebi Type	TBHS1
Tbhs	Chromosome 22q11.2 Deletion Syndrome, Opitz Phenotype
Opitz Gbbb Syndrome Type Ii	Specc1l-Related Hypertelorism Syndrome
Opitz Gbbb Syndrome, Type Ii, Formerly	Gbbb2, Formerly
Opitz Bbbg Syndrome, Type Ii, Formerly	Bbbg2, Formerly
Opitz-G Syndrome, Type Ii, Formerly	Ogs2, Formerly
Opitz Bbb Syndrome, Type Ii, Formerly	Hypertelorism-Hypospadias Syndrome, Formerly
Hypertelorism With Esophageal Abnormality And Hypospadias, Formerly	Opitz Oculogenitolaryngeal Syndrome, Type Ii, Formerly
Opitz-Frias Syndrome, Formerly	Teebi Hypertelorism Syndrome-1
Craniofrontonasal Dysplasia, Teebi Type	Bbb Syndrome
Gbbb Syndrome	G Syndrome
Hypertelorism-Hypospadias Syndrome	Hypertelorism With Esophageal Abnormality And Hypospadias
Hypospadias-Dysphagia Syndrome	Ogs2
Opitz Bbbg Syndrome	Opitz-Frias Syndrome
Opitz Gbbb Syndrome, Autosomal Dominant	Opitz-G Syndrome, Type Ii
Opitz Oculogenitolaryngeal Syndrome, Type Ii	Opitz Gbbb Syndrome, Type Ii
Teebi Syndrome	Opitz-G Syndrome, Type 2
Opitz Gbbb Syndrome, X-Linked	Digeorge Syndrome

Opitz Gbbb Syndrome

Opitz G/Bbb Syndrome	Opitz Syndrome
Hypertelorism-Hypospadias Syndrome	Hypertelorism With Esophageal Abnormality And Hypospadias
Opitz-Frias Syndrome	Os
Osx	Telecanthus-Hypospadias Syndrome
Opitz Gbbb Syndrome Type I	Opitz Bbbg Syndrome
Hypospadias-Dysphagia Syndrome	Opitz Bbb/G Syndrome
GBBB	Opitz Gbbb Syndrome, X-Linked
Opitz Syndrome, X-Linked	Opitz Gbbb Syndrome, Type I, Formerly
Gbbb1, Formerly	Opitz-G Syndrome, Type I, Formerly
Ogs1, Formerly	Opitz Bbbg Syndrome, Type I, Formerly
Bbbg1, Formerly	Bbb Syndrome
G Syndrome	Gbbb Syndrome
Hypertelorism Hypospadias Syndrome	Hypospadias-Dysphagia, Syndrome
Opitz-G Syndrome, Type 2	Telecanthus With Associated Abnormalities
Hypertelorism With Esophageal Abnormalities And Hypospadias	Hypertelorism-Hypospadias Sydrome
Opitz Bbb Syndrome	Opitz G Syndrome
Hypertelorism-Oesophageal Abnormality-Hypospadias Syndrome	Opitz Gbbb Syndrome 1
GBBB1	Bbbg1
Gggb1	Opitz Bbbg Syndrome Type I
Opitz Gbbb Syndrome X-Linked	Opitz-G Syndrome Type I
Opitz Syndrome X-Linked	Opitz G Syndrome, Type I
Opitz Bbbg Syndrome, Type I

Macrostomia, Isolated

Macrostomia	Transverse Facial Cleft
Lateral Cleft, Isolated	Commissural Cleft, Isolated
Transverse Cleft, Isolated	Tessier Number 7 Facial Cleft
Commissural Facial Cleft	Congenital Macrostomia

Facial Cleft

Craniofacial Cleft

Craniofacial Clefts

Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome	Autosomal Dominant Opitz G/Bbb Syndrome
Catch22	Cayler Cardiofacial Syndrome
Conotruncal Anomaly Face Syndrome	Digeorge Syndrome
Sedlackova Syndrome	Shprintzen Syndrome
Velocardiofacial Syndrome	22q11.2 Distal Deletion Syndrome
Distal 22q11.2 Microdeletion Syndrome	22q11.2ds
Vcfs	Velo-Cardio-Facial Syndrome
Distal Chromosome 22q11.2 Deletion Syndrome	Chromosome 22q11.2 Deletion Syndrome Distal
Chromosome 22q11.2 Deletion Syndrome	Deletion 22q11.2 Syndrome
22q11ds	Catch 22
Digeorge Sequence	Microdeletion 22q11.2
Monosomy 22q11	Takao Syndrome
Distal Del(22)(Q11.2)	Distal Monosomy 22q11.2
Catch 22 Syndrome	Chromosome Deletion Syndrome 22q11.2, Distal

Elsahy-Waters Syndrome

Brachioskeletogenital Syndrome	Bsg Syndrome
Branchioskeletogenital Syndrome	ESWS
Hypospadias, Hypertelorism, Upper Lid Coloboma, And Mixed-Type Hearing Loss	Branchio-Skeleto-Genital Syndrome

Widow'S Peak

Widow'S Peak Syndrome

Widow'S Peak, Ptosis, And Skeletal Anomalies

Hypertelorism

Eyes Wide Apart	Eyes Widely Set
Hypertelorism Of Orbit	Ocular Hypertelorism
Orbital Separation Excessive

Lipofibromatosis-Like Neural Tumor

Congenital Fibrosarcoma

Infantile Fibrosarcoma

Childhood Fibrosarcoma

Pediatric Fibrosarcoma

Baraitser-Winter Syndrome

Fryns-Aftimos Syndrome	Brws
Cerebro-Frontofacial Syndrome, Type 3	Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation
Iris Coloboma With Ptosis Hypertelorism And Intellectual Disability	Trigonocephaly Ptosis Coloboma
Trigonocephaly Ptosis Intellectual Disability	Cerebrofrontofacial Syndrome Type 3

Infantile Myofibromatosis

Lipofibromatosis

Myofibromatosis

Coffin-Siris Syndrome 3

CSS3	Mrd15
Mental Retardation, Autosomal Dominant 15	Autosomal Dominant Mental Retardation 15
Coffin-Siris Syndrome, Type 3

Acromelic Frontonasal Dysostosis

AFND	Acromelic Frontonasal Dysplasia
Frontonasal Dysplasia Acromelic	Toriello Syndrome
Dysostosis, Acromelic Frontonasal	Sweet Syndrome

Ptosis

Blepharoptosis	Drooping Eyelid
Droopy Eyelid	Ptosis Of Eyelid
Paralysis Of Levator Palpebrae Superioris

Umbilical Hernia

Hernia, Umbilical

Congenital Mesoblastic Nephroma

Mesoblastic Nephroma

Nephroma, Mesoblastic

Tracheomalacia

Congenital Tracheomalacia	Congenital Major Airway Collapse
Tracheomalacia, Congenital	Type 1 Tracheomalacia

Omphalocele

Omphalocoele	Congenital Omphalocele
Exomphalos	Exumbilication

Van Der Woude Syndrome

Lip-Pit Syndrome	Vws
Cleft Lip And/Or Palate With Mucous Cysts Of Lower Lip	Vdws
Lps	Lip Pit Syndrome
Cleft Lip/Palate With Mucous Cysts Of Lower Lip	Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments

Cleft Palate, Isolated

Cleft Palate	Isolated Cleft Palate
CPI	Cp
Palatoschisis	Cleft Palate Isolated
Uranostaphyloschisis	Congenital Fissure Of Palate
Cleft Of Secondary Palate

Orofacial Cleft

Cleft, Orofacial

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13656	SPECC1L Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SPECC1L	MGD	MGI:1921642
Rattus norvegicus	SPECC1L	RGD	RGD:1309570

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