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Acd Gene Detail
Summary
  • Symbol
    Acd
  • Name
    adrenocortical dysplasia
  • Feature Type
    protein coding gene
  • IDs
    MGI:87873
    NCBI Gene: 497652
  • Alliance
    genome feature page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:106424789-106427748 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 53.04 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    112 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_87873
 protein coding gene Chr8:106422492-106427748 (-)
129S1/SvImJ ENSMUSG00200014155
 protein coding gene Chr8:100702151-100707393 (-)
A/J ENSMUSG00195015947
 protein coding gene Chr8:101024603-101029845 (-)
AKR/J ENSMUSG00220014792
 protein coding gene Chr8:101167268-101172510 (-)
BALB/cJ ENSMUSG00180020886
 protein coding gene Chr8:101030441-101035683 (-)
C3H/HeJ ENSMUSG00175024597
 protein coding gene Chr8:101087121-101092363 (-)
C57BL/6NJ ENSMUSG00215017967
 protein coding gene Chr8:100701501-100706743 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031490
 protein coding gene Chr8:96822536-96825483 (-)
CAST/EiJ ENSTCUG00005020783
 protein coding gene Chr8:100465972-100471251 (-)
CBA/J ENSMUSG00210030438
 protein coding gene Chr8:101014833-101020075 (-)
DBA/2J ENSMUSG00185005531
 protein coding gene Chr8:107123607-107128849 (-)
FVB/NJ ENSMUSG00205014193
 protein coding gene Chr8:99999146-100004388 (-)
JF1/MsJ ENSUMUG00000007681
 protein coding gene Chr8:109456816-109462058 (-)
LP/J ENSMUSG00230028858
 protein coding gene Chr8:110804007-110809249 (-)
NOD/ShiLtJ ENSMUSG00190026606
 protein coding gene Chr8:101154056-101159298 (-)
NZO/HlLtJ ENSMUSG00225020494
 protein coding gene Chr8:114154540-114159782 (-)
PWK/PhJ ENSLUMG00010003918
 protein coding gene Chr8:100938210-100943466 (-)
SPRET/EiJ ENSMSPG00010034713
 protein coding gene Chr8:103018397-103021354 (-)
WSB/EiJ ENSIUOG00005028401
 protein coding gene Chr8:101826257-101831514 (-)



Homology
more
  • Human Ortholog
    ACD, ACD shelterin complex subunit and telomerase recruitment factor
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ACD, ACD shelterin complex subunit and telomerase recruitment factor
  • Synonyms
    DKCA6, DKCB7, PIP1, PTOP, TINT1, TPP1
  • Links
    NCBI Gene ID: 65057
    UniProt: Q96AP0

  • Chr Location
    16q22.1; chr16:67657512-67660810 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human ACD associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    47 phenotypes from 4 alleles in 5 genetic backgrounds
    19 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.
Mutations in this gene produce skeletal, coat, vibrissae and skin pigmentation defects. Kidney and adrenal abnormalities cause a shortened lifespan.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    68
  • GO References
    14
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
    682
  • Tissues
    55
  • cDNA Data
    17
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 497652 NCBI Gene Model | MGI Sequence Detail 2960 C57BL/6J ±  kb
    transcript NR_145824 RefSeq | MGI Sequence Detail 1539 ZRU/MplStud  
    polypeptide Q5EE38 UniProt | EBI | MGI Sequence Detail 416 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 24
      cDNA 17
      Primer pair 7

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-1031
    References
    more
    • Summaries
      All 63
      Developmental Gene Expression 3
      Gene Ontology 14
      Phenotypes 19
    • Earliest
      J:18027 Beamer WG, et al., Adrenocortical dysplasia: a mouse model system for adrenocortical insufficiency. J Endocrinol. 1994 Apr;141(1):33-43
    • Latest
      J:375765 Sanchez-Vazquez R, et al., Mice carrying the homologous human shelterin POT1-L259S mutation linked to pulmonary fibrosis show a telomerase deficiency-like phenotype with telomere shortening with increasing mouse generations. Genes Dev. 2025 Dec 1;39(23-24):1490-1508
    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)
    Citing These Resources
    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