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Specc1l Gene Detail
Summary
  • Symbol
    Specc1l
  • Name
    sperm antigen with calponin homology and coiled-coil domains 1-like
  • Synonyms
    4930470P14Rik, 4932439K10Rik, 9530057A13Rik, Cytsa, mKIAA0376, Specc1l
  • Feature Type
    protein coding gene
  • IDs
    MGI:1921642
    NCBI Gene: 74392
  • Alliance
    genome feature page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:75047872-75148234 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 38.51 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1881 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1921642
 protein coding gene Chr10:75047872-75148577 (+)
129S1/SvImJ ENSMUSG00200049840
 protein coding gene Chr10:71748947-71849626 (+)
A/J ENSMUSG00195038679
 protein coding gene Chr10:72060995-72161681 (+)
AKR/J ENSMUSG00220043776
 protein coding gene Chr10:71720738-71821432 (+)
BALB/cJ ENSMUSG00180044734
 protein coding gene Chr10:72075474-72176170 (+)
C3H/HeJ ENSMUSG00175050783
 protein coding gene Chr10:71946854-72047548 (+)
C57BL/6NJ ENSMUSG00215048902
 protein coding gene Chr10:71684412-71785106 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015437
 protein coding gene Chr10:69240856-69343962 (+)
CAST/EiJ ENSTCUG00005026641
 protein coding gene Chr10:71555637-71659718 (+)
CBA/J ENSMUSG00210048654
 protein coding gene Chr10:71803028-71903714 (+)
DBA/2J ENSMUSG00185051151
 protein coding gene Chr10:72145370-72246057 (+)
FVB/NJ ENSMUSG00205036072
 protein coding gene Chr10:71839091-71939785 (+)
JF1/MsJ ENSUMUG00000035062
 protein coding gene Chr10:73283019-73390228 (+)
LP/J ENSMUSG00230044137
 protein coding gene Chr10:73914979-74015670 (+)
NOD/ShiLtJ ENSMUSG00190043883
 protein coding gene Chr10:72116457-72217155 (+)
NZO/HlLtJ ENSMUSG00225046361
 protein coding gene Chr10:78211477-78312157 (+)
PWK/PhJ ENSLUMG00010035151
 protein coding gene Chr10:71681275-71785602 (+)
SPRET/EiJ ENSMSPG00010043030
 protein coding gene Chr10:73466894-73568156 (+)
WSB/EiJ ENSIUOG00005046176
 protein coding gene Chr10:71699474-71800187 (+)



Homology
more
  • Human Ortholog
    SPECC1L, sperm antigen with calponin homology and coiled-coil domains 1 like
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SPECC1L, sperm antigen with calponin homology and coiled-coil domains 1 like
  • Synonyms
    CYTSA, GBBB2, OBLFC1, TBHS, TBHS1
  • Links
    NCBI Gene ID: 23384
    UniProt: Q69YQ0

  • Chr Location
    22q11.23; chr22:24270817-24417740 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Specc1l mouse models; 2 with human SPECC1L associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
 View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    20 phenotypes from 8 alleles in 4 genetic backgrounds
    20 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous knockout affects cranial neural crest cell migration, which causes neural tube closure defects and leads to embryonic lethality.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    30
  • GO References
    6
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    628
  • Tissues
    18
  • cDNA Data
    148
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 74392 NCBI Gene Model | MGI Sequence Detail 100363 C57BL/6J ±  kb
    transcript NM_001145826 RefSeq | MGI Sequence Detail 6307 C57BL/6  
    polypeptide Q2KN98 UniProt | EBI | MGI Sequence Detail 1118 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 149
      cDNA 148
      Other 1
      Antibodies 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1922253, MGI:2143573, MGI:2444709
    References
    more
    • Summaries
      All 49
      Developmental Gene Expression 7
      Diseases 1
      Gene Ontology 6
      Phenotypes 20
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:379178 Tran AJ, et al., Loss of SPECC1L in cranial neural crest cells results in increased hedgehog signaling and frontonasal dysplasia. Front Physiol. 2026;17:1751758
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/01/2026
    MGI 6.24     		The Jackson Laboratory