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

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

CH

CH: Calponin homology (CH) domain (1014 - 1116)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 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

Orthologs Information

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